Incidental Mutation 'R0220:Gm4787'
| ID |
33808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
038469-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0220 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
81376991-81379464 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 81378648 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 245
(S245R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062182]
[ENSMUST00000110340]
[ENSMUST00000164386]
[ENSMUST00000166723]
|
| AlphaFold |
B2RUD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062182
AA Change: S245R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: S245R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
46 |
163 |
1.5e-19 |
PFAM |
|
Pfam:Reprolysin
|
213 |
406 |
4.6e-18 |
PFAM |
|
DISIN
|
425 |
500 |
2e-33 |
SMART |
|
ACR
|
501 |
644 |
2.83e-53 |
SMART |
|
transmembrane domain
|
714 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110340
|
| SMART Domains |
Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX16
|
16 |
74 |
6.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164386
|
| SMART Domains |
Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
21 |
100 |
6.16e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166723
|
| SMART Domains |
Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX16
|
16 |
73 |
6.9e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,148,420 |
|
probably null |
Het |
| Abcc5 |
A |
G |
16: 20,369,102 |
V863A |
probably benign |
Het |
| Anxa6 |
A |
C |
11: 54,981,762 |
|
probably null |
Het |
| Armc10 |
A |
G |
5: 21,661,584 |
K296R |
probably benign |
Het |
| Arpc2 |
T |
A |
1: 74,248,134 |
F38I |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,514,819 |
N371Y |
probably damaging |
Het |
| Bcl6 |
T |
A |
16: 23,966,219 |
H677L |
possibly damaging |
Het |
| Bcl7a |
G |
A |
5: 123,351,919 |
V49I |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,844,810 |
L144P |
probably damaging |
Het |
| Cdh8 |
G |
T |
8: 99,111,679 |
P510T |
probably benign |
Het |
| Cgnl1 |
C |
A |
9: 71,724,943 |
K375N |
possibly damaging |
Het |
| Cubn |
C |
A |
2: 13,356,709 |
R1695L |
probably damaging |
Het |
| Cyp3a59 |
G |
A |
5: 146,098,270 |
V253I |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 32,929,502 |
I208T |
probably damaging |
Het |
| Dennd4a |
A |
C |
9: 64,852,445 |
E277D |
probably damaging |
Het |
| Depdc1a |
G |
A |
3: 159,523,905 |
V625I |
probably benign |
Het |
| Dot1l |
A |
T |
10: 80,785,858 |
D448V |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 20,967,358 |
D253G |
probably damaging |
Het |
| Eme1 |
T |
A |
11: 94,650,258 |
E246V |
probably null |
Het |
| Foxred1 |
A |
G |
9: 35,209,453 |
L128P |
probably damaging |
Het |
| Gm14124 |
A |
T |
2: 150,268,675 |
Q428H |
unknown |
Het |
| Gm5141 |
T |
A |
13: 62,774,457 |
K299N |
probably damaging |
Het |
| Greb1 |
C |
A |
12: 16,682,286 |
R1558L |
probably damaging |
Het |
| Ip6k3 |
A |
T |
17: 27,145,229 |
F282I |
probably damaging |
Het |
| Kdm2a |
T |
C |
19: 4,324,919 |
D288G |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,463,122 |
V480E |
probably benign |
Het |
| Kif26a |
A |
T |
12: 112,157,390 |
Q143L |
probably damaging |
Het |
| Klhl41 |
G |
A |
2: 69,670,485 |
D97N |
probably benign |
Het |
| Krt34 |
C |
T |
11: 100,038,693 |
|
probably benign |
Het |
| Lcn11 |
A |
T |
2: 25,777,831 |
H77L |
probably benign |
Het |
| Megf6 |
G |
A |
4: 154,258,215 |
R529H |
probably damaging |
Het |
| Mipol1 |
A |
G |
12: 57,457,150 |
E368G |
probably damaging |
Het |
| Mtus1 |
A |
T |
8: 40,994,572 |
M442K |
probably damaging |
Het |
| Naca |
T |
C |
10: 128,043,386 |
|
probably benign |
Het |
| Nbea |
G |
A |
3: 56,005,303 |
T1021I |
probably benign |
Het |
| Nfib |
A |
T |
4: 82,296,776 |
V530E |
probably damaging |
Het |
| Nptx1 |
A |
G |
11: 119,544,641 |
V283A |
probably damaging |
Het |
| Olfr1261 |
G |
T |
2: 89,993,862 |
L156F |
probably benign |
Het |
| Olfr190 |
A |
T |
16: 59,074,732 |
M116K |
probably damaging |
Het |
| Opn5 |
A |
G |
17: 42,596,604 |
V127A |
probably benign |
Het |
| Pcgf6 |
A |
G |
19: 47,040,090 |
V291A |
probably benign |
Het |
| Pilrb2 |
C |
A |
5: 137,871,197 |
R47L |
probably benign |
Het |
| Prom2 |
A |
C |
2: 127,541,107 |
S72A |
probably benign |
Het |
| Sema3e |
T |
C |
5: 14,164,153 |
F144S |
possibly damaging |
Het |
| Sephs1 |
A |
G |
2: 4,899,560 |
T250A |
probably benign |
Het |
| Smarcc2 |
A |
T |
10: 128,483,636 |
D798V |
probably benign |
Het |
| Taf5 |
T |
C |
19: 47,080,560 |
S563P |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,749,303 |
H426R |
possibly damaging |
Het |
| Tpgs1 |
T |
A |
10: 79,675,437 |
C138S |
possibly damaging |
Het |
| Traf1 |
A |
T |
2: 34,949,103 |
V70D |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,811,393 |
Y13453C |
probably damaging |
Het |
| Ubxn4 |
T |
A |
1: 128,256,194 |
V97D |
possibly damaging |
Het |
| Ugt1a8 |
A |
T |
1: 88,088,335 |
I157L |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,156,466 |
C700S |
probably damaging |
Het |
| Wee1 |
A |
T |
7: 110,124,526 |
D216V |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,429,273 |
Y533H |
unknown |
Het |
| Zfp81 |
A |
G |
17: 33,336,724 |
I43T |
possibly damaging |
Het |
| Zfp963 |
A |
T |
8: 69,743,495 |
Y103N |
probably benign |
Het |
| Zfp963 |
A |
T |
8: 69,743,493 |
Y103* |
probably null |
Het |
| Zzef1 |
G |
T |
11: 72,865,966 |
D1126Y |
probably damaging |
Het |
|
| Other mutations in Gm4787 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01719:Gm4787
|
APN |
12 |
81,377,174 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL01916:Gm4787
|
APN |
12 |
81,377,444 (GRCm38) |
missense |
probably benign |
0.36 |
|
IGL02193:Gm4787
|
APN |
12 |
81,378,528 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02623:Gm4787
|
APN |
12 |
81,378,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02681:Gm4787
|
APN |
12 |
81,378,769 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL03257:Gm4787
|
APN |
12 |
81,378,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03410:Gm4787
|
APN |
12 |
81,379,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
F5770:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
PIT4362001:Gm4787
|
UTSW |
12 |
81,377,175 (GRCm38) |
missense |
probably benign |
|
|
R0070:Gm4787
|
UTSW |
12 |
81,379,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0128:Gm4787
|
UTSW |
12 |
81,377,747 (GRCm38) |
nonsense |
probably null |
|
|
R0304:Gm4787
|
UTSW |
12 |
81,378,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0513:Gm4787
|
UTSW |
12 |
81,378,312 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1761:Gm4787
|
UTSW |
12 |
81,377,176 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1809:Gm4787
|
UTSW |
12 |
81,378,529 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1853:Gm4787
|
UTSW |
12 |
81,378,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1854:Gm4787
|
UTSW |
12 |
81,378,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2030:Gm4787
|
UTSW |
12 |
81,378,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2063:Gm4787
|
UTSW |
12 |
81,378,920 (GRCm38) |
missense |
probably benign |
0.39 |
|
R2112:Gm4787
|
UTSW |
12 |
81,377,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2140:Gm4787
|
UTSW |
12 |
81,378,562 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2151:Gm4787
|
UTSW |
12 |
81,377,219 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2152:Gm4787
|
UTSW |
12 |
81,377,219 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2342:Gm4787
|
UTSW |
12 |
81,378,758 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2504:Gm4787
|
UTSW |
12 |
81,379,137 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4038:Gm4787
|
UTSW |
12 |
81,378,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4604:Gm4787
|
UTSW |
12 |
81,379,213 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4748:Gm4787
|
UTSW |
12 |
81,378,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4750:Gm4787
|
UTSW |
12 |
81,378,367 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4928:Gm4787
|
UTSW |
12 |
81,378,838 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4960:Gm4787
|
UTSW |
12 |
81,379,316 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4974:Gm4787
|
UTSW |
12 |
81,377,629 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5028:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5029:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5031:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5098:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5099:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5100:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5101:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5135:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5152:Gm4787
|
UTSW |
12 |
81,378,677 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5180:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5220:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5257:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5258:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5297:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5324:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5325:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5355:Gm4787
|
UTSW |
12 |
81,377,465 (GRCm38) |
nonsense |
probably null |
|
|
R5364:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5396:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5397:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5398:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5514:Gm4787
|
UTSW |
12 |
81,378,328 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5634:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5666:Gm4787
|
UTSW |
12 |
81,378,031 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5670:Gm4787
|
UTSW |
12 |
81,378,031 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5787:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5788:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6354:Gm4787
|
UTSW |
12 |
81,377,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6932:Gm4787
|
UTSW |
12 |
81,379,200 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7120:Gm4787
|
UTSW |
12 |
81,378,486 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7237:Gm4787
|
UTSW |
12 |
81,377,668 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7937:Gm4787
|
UTSW |
12 |
81,377,905 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8022:Gm4787
|
UTSW |
12 |
81,377,720 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8140:Gm4787
|
UTSW |
12 |
81,378,151 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8314:Gm4787
|
UTSW |
12 |
81,379,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8480:Gm4787
|
UTSW |
12 |
81,377,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8498:Gm4787
|
UTSW |
12 |
81,379,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8515:Gm4787
|
UTSW |
12 |
81,377,269 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9103:Gm4787
|
UTSW |
12 |
81,378,715 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9457:Gm4787
|
UTSW |
12 |
81,379,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9557:Gm4787
|
UTSW |
12 |
81,379,300 (GRCm38) |
nonsense |
probably null |
|
|
R9608:Gm4787
|
UTSW |
12 |
81,378,312 (GRCm38) |
missense |
probably benign |
0.03 |
|
V7580:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
V7581:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
V7582:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGCCAGGAAAGATCCAGCCAG -3'
(R):5'- ACCTCCCTGAAGAGACTAAGCTCG -3'
Sequencing Primer
(F):5'- TCCTGAAAGCCTGCATAATCTG -3'
(R):5'- ACTAAGCTCGCTGGAAGTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation