Incidental Mutation 'R4755:Agrn'
| ID |
357890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agrn
|
| Ensembl Gene |
ENSMUSG00000041936 |
| Gene Name |
agrin |
| Synonyms |
Agrin, NMF380, nmf380 |
| MMRRC Submission |
042033-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R4755 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156249747-156281945 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 156257979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071248]
[ENSMUST00000105574]
[ENSMUST00000105575]
[ENSMUST00000180572]
|
| AlphaFold |
A2ASQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071248
|
| SMART Domains |
Protein: ENSMUSP00000071229
Gene: ENSMUSG00000041936
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
FOLN
|
66 |
91 |
8.25e-6 |
SMART |
|
KAZAL
|
91 |
137 |
1.22e-17 |
SMART |
|
FOLN
|
142 |
166 |
7.58e-5 |
SMART |
|
EGF_like
|
142 |
181 |
7.38e1 |
SMART |
|
KAZAL
|
166 |
212 |
1.51e-13 |
SMART |
|
KAZAL
|
241 |
284 |
1.8e-6 |
SMART |
|
KAZAL
|
310 |
356 |
1.55e-10 |
SMART |
|
FOLN
|
362 |
384 |
8.25e-6 |
SMART |
|
KAZAL
|
384 |
429 |
1.14e-17 |
SMART |
|
KAZAL
|
449 |
494 |
6.43e-17 |
SMART |
|
FOLN
|
496 |
519 |
2.94e-2 |
SMART |
|
KAZAL
|
507 |
559 |
8.96e-16 |
SMART |
|
low complexity region
|
565 |
572 |
N/A |
INTRINSIC |
|
KAZAL
|
599 |
645 |
1.12e-16 |
SMART |
|
EGF_Lam
|
688 |
739 |
3.29e-15 |
SMART |
|
EGF_Lam
|
742 |
786 |
6.7e-7 |
SMART |
|
FOLN
|
795 |
817 |
1.94e-2 |
SMART |
|
KAZAL
|
817 |
864 |
3.9e-16 |
SMART |
|
low complexity region
|
889 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
978 |
N/A |
INTRINSIC |
|
SEA
|
1014 |
1139 |
5.57e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105574
|
| SMART Domains |
Protein: ENSMUSP00000101199
Gene: ENSMUSG00000041936
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
FOLN
|
66 |
91 |
8.25e-6 |
SMART |
|
KAZAL
|
91 |
137 |
1.22e-17 |
SMART |
|
FOLN
|
142 |
166 |
7.58e-5 |
SMART |
|
EGF_like
|
142 |
181 |
7.38e1 |
SMART |
|
KAZAL
|
166 |
212 |
1.51e-13 |
SMART |
|
KAZAL
|
241 |
284 |
1.8e-6 |
SMART |
|
KAZAL
|
310 |
356 |
1.55e-10 |
SMART |
|
FOLN
|
362 |
384 |
8.25e-6 |
SMART |
|
KAZAL
|
384 |
429 |
1.14e-17 |
SMART |
|
KAZAL
|
449 |
494 |
6.43e-17 |
SMART |
|
FOLN
|
496 |
519 |
2.94e-2 |
SMART |
|
KAZAL
|
507 |
559 |
8.96e-16 |
SMART |
|
low complexity region
|
565 |
572 |
N/A |
INTRINSIC |
|
KAZAL
|
599 |
645 |
1.12e-16 |
SMART |
|
EGF_Lam
|
688 |
739 |
3.29e-15 |
SMART |
|
EGF_Lam
|
742 |
786 |
6.7e-7 |
SMART |
|
FOLN
|
795 |
817 |
1.94e-2 |
SMART |
|
KAZAL
|
817 |
864 |
3.9e-16 |
SMART |
|
low complexity region
|
889 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
978 |
N/A |
INTRINSIC |
|
SEA
|
1014 |
1136 |
2.26e-35 |
SMART |
|
low complexity region
|
1142 |
1169 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1198 |
N/A |
INTRINSIC |
|
EGF
|
1214 |
1249 |
1.49e-4 |
SMART |
|
LamG
|
1274 |
1410 |
4e-45 |
SMART |
|
EGF
|
1434 |
1468 |
2.23e-3 |
SMART |
|
EGF
|
1473 |
1507 |
7.13e-2 |
SMART |
|
LamG
|
1542 |
1678 |
6.51e-36 |
SMART |
|
EGF
|
1699 |
1735 |
4.35e-6 |
SMART |
|
LamG
|
1771 |
1907 |
5.01e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105575
|
| SMART Domains |
Protein: ENSMUSP00000101200
Gene: ENSMUSG00000041936
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
FOLN
|
66 |
91 |
8.25e-6 |
SMART |
|
KAZAL
|
91 |
137 |
1.22e-17 |
SMART |
|
FOLN
|
142 |
166 |
7.58e-5 |
SMART |
|
EGF_like
|
142 |
181 |
7.38e1 |
SMART |
|
KAZAL
|
166 |
212 |
1.51e-13 |
SMART |
|
KAZAL
|
241 |
284 |
1.8e-6 |
SMART |
|
KAZAL
|
310 |
356 |
1.55e-10 |
SMART |
|
FOLN
|
362 |
384 |
8.25e-6 |
SMART |
|
KAZAL
|
384 |
429 |
1.14e-17 |
SMART |
|
KAZAL
|
449 |
494 |
6.43e-17 |
SMART |
|
FOLN
|
496 |
519 |
2.94e-2 |
SMART |
|
KAZAL
|
507 |
559 |
8.96e-16 |
SMART |
|
low complexity region
|
565 |
572 |
N/A |
INTRINSIC |
|
KAZAL
|
599 |
645 |
1.12e-16 |
SMART |
|
EGF_Lam
|
688 |
739 |
3.29e-15 |
SMART |
|
EGF_Lam
|
742 |
786 |
6.7e-7 |
SMART |
|
FOLN
|
795 |
817 |
1.94e-2 |
SMART |
|
KAZAL
|
817 |
864 |
3.9e-16 |
SMART |
|
low complexity region
|
889 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
978 |
N/A |
INTRINSIC |
|
SEA
|
1014 |
1136 |
2.26e-35 |
SMART |
|
low complexity region
|
1142 |
1169 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1198 |
N/A |
INTRINSIC |
|
EGF
|
1214 |
1249 |
1.49e-4 |
SMART |
|
LamG
|
1274 |
1410 |
4e-45 |
SMART |
|
EGF
|
1434 |
1468 |
2.23e-3 |
SMART |
|
EGF
|
1473 |
1507 |
7.13e-2 |
SMART |
|
LamG
|
1542 |
1682 |
9.2e-36 |
SMART |
|
EGF
|
1703 |
1739 |
4.35e-6 |
SMART |
|
LamG
|
1794 |
1930 |
5.01e-37 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154494
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180572
|
| SMART Domains |
Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:NtA
|
32 |
159 |
5.1e-91 |
PFAM |
|
FOLN
|
173 |
198 |
8.25e-6 |
SMART |
|
KAZAL
|
198 |
244 |
1.22e-17 |
SMART |
|
FOLN
|
249 |
273 |
7.58e-5 |
SMART |
|
EGF_like
|
249 |
288 |
7.38e1 |
SMART |
|
KAZAL
|
273 |
319 |
1.51e-13 |
SMART |
|
KAZAL
|
348 |
391 |
1.8e-6 |
SMART |
|
KAZAL
|
417 |
463 |
1.55e-10 |
SMART |
|
FOLN
|
469 |
491 |
8.25e-6 |
SMART |
|
KAZAL
|
491 |
536 |
1.14e-17 |
SMART |
|
KAZAL
|
556 |
601 |
6.43e-17 |
SMART |
|
FOLN
|
603 |
626 |
2.94e-2 |
SMART |
|
KAZAL
|
614 |
666 |
8.96e-16 |
SMART |
|
low complexity region
|
672 |
679 |
N/A |
INTRINSIC |
|
KAZAL
|
706 |
752 |
1.12e-16 |
SMART |
|
EGF_Lam
|
795 |
846 |
3.29e-15 |
SMART |
|
EGF_Lam
|
849 |
893 |
6.7e-7 |
SMART |
|
FOLN
|
902 |
924 |
1.94e-2 |
SMART |
|
KAZAL
|
924 |
971 |
3.9e-16 |
SMART |
|
low complexity region
|
996 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1056 |
1085 |
N/A |
INTRINSIC |
|
SEA
|
1121 |
1243 |
2.26e-35 |
SMART |
|
low complexity region
|
1249 |
1276 |
N/A |
INTRINSIC |
|
low complexity region
|
1290 |
1305 |
N/A |
INTRINSIC |
|
EGF
|
1321 |
1356 |
1.49e-4 |
SMART |
|
LamG
|
1381 |
1517 |
4e-45 |
SMART |
|
EGF
|
1541 |
1575 |
2.23e-3 |
SMART |
|
EGF
|
1580 |
1614 |
7.13e-2 |
SMART |
|
LamG
|
1649 |
1785 |
6.51e-36 |
SMART |
|
EGF
|
1806 |
1842 |
4.35e-6 |
SMART |
|
LamG
|
1878 |
2014 |
5.01e-37 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181062
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (112/117) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PHENOTYPE: Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted, knock-out(4) Targeted, other(1) Gene trapped(7) |
| Other mutations in this stock |
Total: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
T |
A |
3: 59,733,280 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm1 |
C |
T |
3: 59,843,735 (GRCm39) |
A143V |
probably benign |
Het |
| Accs |
T |
C |
2: 93,671,682 (GRCm39) |
E236G |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,930,946 (GRCm39) |
I929V |
possibly damaging |
Het |
| Akap5 |
C |
A |
12: 76,374,581 (GRCm39) |
C4* |
probably null |
Het |
| Amotl2 |
A |
T |
9: 102,597,679 (GRCm39) |
H146L |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,594,990 (GRCm39) |
N666S |
probably damaging |
Het |
| Atp10d |
A |
T |
5: 72,403,509 (GRCm39) |
T373S |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,161,614 (GRCm39) |
M582K |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,483,452 (GRCm39) |
|
probably null |
Het |
| Ccdc149 |
A |
G |
5: 52,561,493 (GRCm39) |
V229A |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,156,662 (GRCm39) |
S1617P |
probably damaging |
Het |
| Cenpk |
A |
T |
13: 104,367,379 (GRCm39) |
M37L |
probably benign |
Het |
| Cenpk |
A |
T |
13: 104,386,020 (GRCm39) |
H305L |
probably benign |
Het |
| Ces5a |
C |
A |
8: 94,262,305 (GRCm39) |
A11S |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,967,520 (GRCm39) |
E186G |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,016,546 (GRCm39) |
I593F |
probably damaging |
Het |
| Clstn2 |
C |
T |
9: 97,327,726 (GRCm39) |
V961I |
probably benign |
Het |
| Cog5 |
T |
A |
12: 31,919,405 (GRCm39) |
|
probably null |
Het |
| Col4a4 |
T |
C |
1: 82,518,895 (GRCm39) |
D100G |
unknown |
Het |
| Cyp3a41a |
T |
C |
5: 145,652,316 (GRCm39) |
D61G |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,824,809 (GRCm39) |
N655S |
probably benign |
Het |
| Dnai1 |
C |
G |
4: 41,610,269 (GRCm39) |
T295R |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,407,996 (GRCm39) |
A44V |
probably damaging |
Het |
| Eif4enif1 |
A |
T |
11: 3,194,016 (GRCm39) |
D960V |
probably damaging |
Het |
| Fam167b |
C |
T |
4: 129,472,135 (GRCm39) |
G12R |
probably damaging |
Het |
| Fam20b |
A |
T |
1: 156,515,066 (GRCm39) |
Y266* |
probably null |
Het |
| Fer1l6 |
T |
A |
15: 58,512,060 (GRCm39) |
V1509D |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,655,794 (GRCm39) |
I105N |
probably damaging |
Het |
| Fmo2 |
T |
C |
1: 162,716,374 (GRCm39) |
D71G |
probably damaging |
Het |
| Folr2 |
T |
C |
7: 101,493,006 (GRCm39) |
T6A |
possibly damaging |
Het |
| Fry |
A |
C |
5: 150,321,719 (GRCm39) |
E1018A |
probably damaging |
Het |
| Gas2l2 |
A |
G |
11: 83,320,193 (GRCm39) |
I21T |
probably damaging |
Het |
| Gfra1 |
T |
C |
19: 58,441,676 (GRCm39) |
Y85C |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,163,671 (GRCm39) |
Y43F |
probably benign |
Het |
| Gpld1 |
T |
A |
13: 25,163,675 (GRCm39) |
Y44* |
probably null |
Het |
| Grid2 |
A |
G |
6: 63,885,972 (GRCm39) |
T123A |
probably benign |
Het |
| Grina |
T |
C |
15: 76,133,442 (GRCm39) |
L305P |
probably damaging |
Het |
| Gucy1a1 |
G |
A |
3: 82,002,102 (GRCm39) |
A659V |
probably benign |
Het |
| H2-T10 |
T |
A |
17: 36,429,837 (GRCm39) |
K319* |
probably null |
Het |
| Hey2 |
A |
T |
10: 30,710,300 (GRCm39) |
V151E |
probably benign |
Het |
| Ighv1-69 |
G |
A |
12: 115,587,178 (GRCm39) |
T13I |
probably benign |
Het |
| Il1rap |
C |
A |
16: 26,541,532 (GRCm39) |
A591E |
probably benign |
Het |
| Ildr1 |
T |
C |
16: 36,542,383 (GRCm39) |
L261P |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,031,354 (GRCm39) |
Y463H |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,159,285 (GRCm39) |
I1666V |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,361,028 (GRCm39) |
T592S |
probably benign |
Het |
| Lrrc36 |
A |
G |
8: 106,178,776 (GRCm39) |
T445A |
possibly damaging |
Het |
| Ly9 |
G |
A |
1: 171,434,806 (GRCm39) |
S29F |
probably damaging |
Het |
| Mapk7 |
A |
C |
11: 61,381,669 (GRCm39) |
C32W |
probably damaging |
Het |
| Marchf10 |
C |
T |
11: 105,255,302 (GRCm39) |
|
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,385,031 (GRCm39) |
M119K |
probably damaging |
Het |
| Mpv17 |
A |
T |
5: 31,303,326 (GRCm39) |
C59* |
probably null |
Het |
| Mrpl27 |
G |
A |
11: 94,544,659 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
G |
A |
5: 113,022,340 (GRCm39) |
Q351* |
probably null |
Het |
| Myo1a |
A |
G |
10: 127,551,557 (GRCm39) |
I704M |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,360,650 (GRCm39) |
C373R |
probably damaging |
Het |
| Nckipsd |
C |
A |
9: 108,691,938 (GRCm39) |
A513E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,110,221 (GRCm39) |
D209G |
probably damaging |
Het |
| Nkapl |
T |
A |
13: 21,652,457 (GRCm39) |
Q52L |
unknown |
Het |
| Nptx2 |
G |
A |
5: 144,483,250 (GRCm39) |
S126N |
probably benign |
Het |
| Or2a7 |
G |
A |
6: 43,150,977 (GRCm39) |
S19N |
probably benign |
Het |
| Or52d3 |
T |
A |
7: 104,229,268 (GRCm39) |
Y138* |
probably null |
Het |
| Or7g17 |
A |
T |
9: 18,768,476 (GRCm39) |
H185L |
probably benign |
Het |
| Or8b52 |
A |
G |
9: 38,577,128 (GRCm39) |
V4A |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,764,362 (GRCm39) |
R4278S |
unknown |
Het |
| Pcnx1 |
T |
G |
12: 81,997,068 (GRCm39) |
L988R |
probably damaging |
Het |
| Prl2c5 |
C |
A |
13: 13,363,970 (GRCm39) |
N75K |
probably benign |
Het |
| Prpf19 |
T |
G |
19: 10,875,154 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,759,533 (GRCm39) |
S997P |
probably damaging |
Het |
| Rangap1 |
T |
C |
15: 81,597,118 (GRCm39) |
T226A |
probably benign |
Het |
| Rimklb |
G |
A |
6: 122,433,365 (GRCm39) |
L262F |
probably damaging |
Het |
| Rnf169 |
A |
G |
7: 99,574,930 (GRCm39) |
M555T |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,267,519 (GRCm39) |
D1035V |
probably benign |
Het |
| Rps23rg1 |
A |
T |
8: 3,633,922 (GRCm39) |
S8C |
probably damaging |
Het |
| Scd2 |
T |
A |
19: 44,289,791 (GRCm39) |
L262Q |
probably damaging |
Het |
| Scgb2b12 |
T |
A |
7: 32,024,956 (GRCm39) |
M84L |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sipa1l1 |
G |
A |
12: 82,419,160 (GRCm39) |
V613I |
possibly damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,794 (GRCm39) |
D67V |
possibly damaging |
Het |
| Slc25a39 |
C |
T |
11: 102,297,492 (GRCm39) |
|
probably benign |
Het |
| Slc4a10 |
T |
A |
2: 62,127,332 (GRCm39) |
F895Y |
probably damaging |
Het |
| Slc5a4a |
A |
C |
10: 76,022,398 (GRCm39) |
K578Q |
probably benign |
Het |
| Slc6a13 |
G |
A |
6: 121,302,008 (GRCm39) |
G197S |
probably damaging |
Het |
| Smarca2 |
A |
T |
19: 26,631,883 (GRCm39) |
E566V |
possibly damaging |
Het |
| Sorbs3 |
A |
T |
14: 70,421,548 (GRCm39) |
N594K |
probably benign |
Het |
| Spata22 |
A |
T |
11: 73,236,582 (GRCm39) |
D296V |
probably damaging |
Het |
| Sphk2 |
G |
A |
7: 45,363,058 (GRCm39) |
A11V |
possibly damaging |
Het |
| Spp1 |
A |
T |
5: 104,583,081 (GRCm39) |
|
probably benign |
Het |
| Strn3 |
T |
A |
12: 51,656,999 (GRCm39) |
I760L |
possibly damaging |
Het |
| Syk |
A |
T |
13: 52,796,022 (GRCm39) |
Y539F |
probably benign |
Het |
| Tdpoz9-ps1 |
T |
C |
3: 93,846,093 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
T |
A |
1: 130,138,001 (GRCm39) |
Y1560N |
probably benign |
Het |
| Tmod2 |
C |
A |
9: 75,504,494 (GRCm39) |
E42* |
probably null |
Het |
| Tom1l1 |
T |
C |
11: 90,575,942 (GRCm39) |
E30G |
probably damaging |
Het |
| Trav10 |
G |
A |
14: 53,743,518 (GRCm39) |
A40T |
probably benign |
Het |
| Trav14-2 |
G |
A |
14: 53,878,237 (GRCm39) |
|
probably benign |
Het |
| Tril |
T |
A |
6: 53,795,449 (GRCm39) |
E591V |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,059,087 (GRCm39) |
R179* |
probably null |
Het |
| Tspoap1 |
A |
T |
11: 87,662,489 (GRCm39) |
D562V |
possibly damaging |
Het |
| Usp44 |
A |
T |
10: 93,682,768 (GRCm39) |
H406L |
probably damaging |
Het |
| Vangl1 |
A |
G |
3: 102,065,608 (GRCm39) |
I509T |
probably benign |
Het |
| Vax2 |
T |
G |
6: 83,688,379 (GRCm39) |
L34W |
probably damaging |
Het |
| Vmn1r55 |
A |
T |
7: 5,150,025 (GRCm39) |
C133S |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,949,566 (GRCm39) |
D427V |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,205,851 (GRCm39) |
I232T |
possibly damaging |
Het |
| Wnk1 |
C |
A |
6: 119,940,431 (GRCm39) |
A769S |
probably damaging |
Het |
| Xpo4 |
A |
C |
14: 57,855,638 (GRCm39) |
S264A |
probably benign |
Het |
| Zfp330 |
A |
T |
8: 83,496,015 (GRCm39) |
C75* |
probably null |
Het |
| Zfp526 |
T |
A |
7: 24,925,064 (GRCm39) |
L441Q |
probably benign |
Het |
| Zfp607b |
T |
G |
7: 27,402,930 (GRCm39) |
L462R |
probably damaging |
Het |
| Zfp719 |
T |
A |
7: 43,240,217 (GRCm39) |
F602I |
probably damaging |
Het |
|
| Other mutations in Agrn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Agrn
|
APN |
4 |
156,255,029 (GRCm39) |
splice site |
probably benign |
|
|
IGL00811:Agrn
|
APN |
4 |
156,253,231 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01066:Agrn
|
APN |
4 |
156,261,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01412:Agrn
|
APN |
4 |
156,255,491 (GRCm39) |
splice site |
probably benign |
|
|
IGL01414:Agrn
|
APN |
4 |
156,279,696 (GRCm39) |
splice site |
probably null |
|
|
IGL02075:Agrn
|
APN |
4 |
156,254,667 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02609:Agrn
|
APN |
4 |
156,259,680 (GRCm39) |
splice site |
probably benign |
|
|
IGL02669:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02671:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02672:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02674:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02724:Agrn
|
APN |
4 |
156,257,264 (GRCm39) |
nonsense |
probably null |
|
|
IGL02804:Agrn
|
APN |
4 |
156,258,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02986:Agrn
|
APN |
4 |
156,263,311 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03160:Agrn
|
APN |
4 |
156,254,820 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB004:Agrn
|
UTSW |
4 |
156,257,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB014:Agrn
|
UTSW |
4 |
156,257,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
F6893:Agrn
|
UTSW |
4 |
156,258,636 (GRCm39) |
missense |
probably benign |
|
|
R0092:Agrn
|
UTSW |
4 |
156,263,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Agrn
|
UTSW |
4 |
156,259,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Agrn
|
UTSW |
4 |
156,259,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Agrn
|
UTSW |
4 |
156,258,012 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0531:Agrn
|
UTSW |
4 |
156,263,891 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0536:Agrn
|
UTSW |
4 |
156,264,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0690:Agrn
|
UTSW |
4 |
156,258,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0750:Agrn
|
UTSW |
4 |
156,251,394 (GRCm39) |
nonsense |
probably null |
|
|
R1079:Agrn
|
UTSW |
4 |
156,261,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1199:Agrn
|
UTSW |
4 |
156,256,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1222:Agrn
|
UTSW |
4 |
156,261,842 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1534:Agrn
|
UTSW |
4 |
156,261,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Agrn
|
UTSW |
4 |
156,263,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1625:Agrn
|
UTSW |
4 |
156,257,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Agrn
|
UTSW |
4 |
156,251,015 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1717:Agrn
|
UTSW |
4 |
156,250,976 (GRCm39) |
frame shift |
probably null |
|
|
R1718:Agrn
|
UTSW |
4 |
156,250,976 (GRCm39) |
frame shift |
probably null |
|
|
R1721:Agrn
|
UTSW |
4 |
156,259,630 (GRCm39) |
nonsense |
probably null |
|
|
R1765:Agrn
|
UTSW |
4 |
156,261,284 (GRCm39) |
nonsense |
probably null |
|
|
R1840:Agrn
|
UTSW |
4 |
156,251,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Agrn
|
UTSW |
4 |
156,250,976 (GRCm39) |
frame shift |
probably null |
|
|
R2105:Agrn
|
UTSW |
4 |
156,261,756 (GRCm39) |
nonsense |
probably null |
|
|
R2265:Agrn
|
UTSW |
4 |
156,263,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2266:Agrn
|
UTSW |
4 |
156,263,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2269:Agrn
|
UTSW |
4 |
156,263,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2382:Agrn
|
UTSW |
4 |
156,260,973 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2497:Agrn
|
UTSW |
4 |
156,258,268 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2509:Agrn
|
UTSW |
4 |
156,250,881 (GRCm39) |
splice site |
probably null |
|
|
R2510:Agrn
|
UTSW |
4 |
156,250,881 (GRCm39) |
splice site |
probably null |
|
|
R2511:Agrn
|
UTSW |
4 |
156,250,881 (GRCm39) |
splice site |
probably null |
|
|
R2994:Agrn
|
UTSW |
4 |
156,251,785 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3824:Agrn
|
UTSW |
4 |
156,253,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4736:Agrn
|
UTSW |
4 |
156,256,858 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4853:Agrn
|
UTSW |
4 |
156,270,007 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4878:Agrn
|
UTSW |
4 |
156,255,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Agrn
|
UTSW |
4 |
156,270,010 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5228:Agrn
|
UTSW |
4 |
156,251,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5236:Agrn
|
UTSW |
4 |
156,263,315 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5269:Agrn
|
UTSW |
4 |
156,253,447 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5282:Agrn
|
UTSW |
4 |
156,257,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5449:Agrn
|
UTSW |
4 |
156,251,737 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5560:Agrn
|
UTSW |
4 |
156,262,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5668:Agrn
|
UTSW |
4 |
156,251,770 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5725:Agrn
|
UTSW |
4 |
156,258,332 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5967:Agrn
|
UTSW |
4 |
156,259,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Agrn
|
UTSW |
4 |
156,258,066 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6338:Agrn
|
UTSW |
4 |
156,255,042 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6351:Agrn
|
UTSW |
4 |
156,263,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6437:Agrn
|
UTSW |
4 |
156,261,235 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6490:Agrn
|
UTSW |
4 |
156,251,819 (GRCm39) |
nonsense |
probably null |
|
|
R6909:Agrn
|
UTSW |
4 |
156,261,464 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7110:Agrn
|
UTSW |
4 |
156,263,332 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7123:Agrn
|
UTSW |
4 |
156,257,297 (GRCm39) |
missense |
probably benign |
|
|
R7163:Agrn
|
UTSW |
4 |
156,262,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Agrn
|
UTSW |
4 |
156,256,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7251:Agrn
|
UTSW |
4 |
156,259,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Agrn
|
UTSW |
4 |
156,263,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7335:Agrn
|
UTSW |
4 |
156,260,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7336:Agrn
|
UTSW |
4 |
156,259,371 (GRCm39) |
nonsense |
probably null |
|
|
R7406:Agrn
|
UTSW |
4 |
156,256,758 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7460:Agrn
|
UTSW |
4 |
156,258,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7531:Agrn
|
UTSW |
4 |
156,254,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7585:Agrn
|
UTSW |
4 |
156,255,131 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7646:Agrn
|
UTSW |
4 |
156,279,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7652:Agrn
|
UTSW |
4 |
156,253,675 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7714:Agrn
|
UTSW |
4 |
156,279,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Agrn
|
UTSW |
4 |
156,260,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Agrn
|
UTSW |
4 |
156,253,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7927:Agrn
|
UTSW |
4 |
156,257,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8039:Agrn
|
UTSW |
4 |
156,253,468 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8056:Agrn
|
UTSW |
4 |
156,254,868 (GRCm39) |
missense |
probably benign |
|
|
R8061:Agrn
|
UTSW |
4 |
156,263,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8158:Agrn
|
UTSW |
4 |
156,258,346 (GRCm39) |
missense |
probably benign |
|
|
R8159:Agrn
|
UTSW |
4 |
156,256,825 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8325:Agrn
|
UTSW |
4 |
156,258,119 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8338:Agrn
|
UTSW |
4 |
156,253,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8739:Agrn
|
UTSW |
4 |
156,257,045 (GRCm39) |
missense |
probably benign |
|
|
R8956:Agrn
|
UTSW |
4 |
156,250,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9094:Agrn
|
UTSW |
4 |
156,253,264 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9112:Agrn
|
UTSW |
4 |
156,261,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9384:Agrn
|
UTSW |
4 |
156,257,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9472:Agrn
|
UTSW |
4 |
156,254,841 (GRCm39) |
missense |
|
|
|
R9619:Agrn
|
UTSW |
4 |
156,258,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9629:Agrn
|
UTSW |
4 |
156,257,094 (GRCm39) |
nonsense |
probably null |
|
|
R9732:Agrn
|
UTSW |
4 |
156,258,446 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9749:Agrn
|
UTSW |
4 |
156,258,114 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9757:Agrn
|
UTSW |
4 |
156,261,235 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9792:Agrn
|
UTSW |
4 |
156,261,129 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9793:Agrn
|
UTSW |
4 |
156,261,129 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Agrn
|
UTSW |
4 |
156,264,033 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Agrn
|
UTSW |
4 |
156,256,001 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGGCAATTCCTAGGAGC -3'
(R):5'- TTAGACTGCGTTTCCCCAGG -3'
Sequencing Primer
(F):5'- AATTCCTAGGAGCAGGTGCC -3'
(R):5'- TGCGTTTCCCCAGGACTTGAG -3'
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| Posted On |
2015-11-11 |
Incidental Mutation