Incidental Mutation 'IGL03410:Mep1a'
| ID |
421779 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mep1a
|
| Ensembl Gene |
ENSMUSG00000023914 |
| Gene Name |
meprin 1 alpha |
| Synonyms |
Mep-1, meprin A alpha-subunit, meprin alpha, Mep-1a, Mep1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03410
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
43785215-43813703 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 43788986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024707]
[ENSMUST00000117137]
|
| AlphaFold |
P28825 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024707
|
| SMART Domains |
Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
ZnMc
|
83 |
222 |
1.16e-41 |
SMART |
|
MAM
|
276 |
445 |
5.38e-61 |
SMART |
|
MATH
|
445 |
590 |
6.9e-17 |
SMART |
|
EGF
|
687 |
724 |
1.35e-2 |
SMART |
|
transmembrane domain
|
727 |
749 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117137
|
| SMART Domains |
Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
ZnMc
|
70 |
209 |
1.16e-41 |
SMART |
|
MAM
|
263 |
432 |
5.38e-61 |
SMART |
|
MATH
|
432 |
577 |
6.9e-17 |
SMART |
|
EGF
|
674 |
711 |
1.35e-2 |
SMART |
|
transmembrane domain
|
714 |
736 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased litter size, reduced LPS-induced renal injury and bladder inflammation, and increased susceptibility to sodium dextran sulfate-induced colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,220,728 (GRCm39) |
V409E |
probably damaging |
Het |
| 1700086D15Rik |
A |
G |
11: 65,043,393 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
A |
G |
19: 23,914,945 (GRCm39) |
N715S |
possibly damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,476,238 (GRCm39) |
A1527D |
probably damaging |
Het |
| Cmtm2a |
G |
T |
8: 105,010,501 (GRCm39) |
P133T |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,340,900 (GRCm39) |
V483A |
probably benign |
Het |
| Dclre1b |
T |
A |
3: 103,715,456 (GRCm39) |
D14V |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,083,535 (GRCm39) |
I125V |
probably benign |
Het |
| Dok3 |
G |
T |
13: 55,672,044 (GRCm39) |
Y211* |
probably null |
Het |
| Fat4 |
T |
C |
3: 38,945,325 (GRCm39) |
V1406A |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,183,315 (GRCm39) |
F1790S |
possibly damaging |
Het |
| Gm4787 |
A |
T |
12: 81,425,948 (GRCm39) |
M70K |
probably damaging |
Het |
| Gulp1 |
A |
T |
1: 44,747,777 (GRCm39) |
D10V |
probably damaging |
Het |
| Hagh |
T |
C |
17: 25,079,916 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
G |
5: 34,956,789 (GRCm39) |
E206G |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,355 (GRCm39) |
E682G |
probably benign |
Het |
| Ift56 |
T |
C |
6: 38,362,435 (GRCm39) |
L70P |
probably damaging |
Het |
| Igkv4-59 |
G |
T |
6: 69,415,450 (GRCm39) |
A35E |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,862,421 (GRCm39) |
V80A |
probably damaging |
Het |
| Lars2 |
G |
A |
9: 123,247,841 (GRCm39) |
A333T |
possibly damaging |
Het |
| Lrrc4 |
G |
A |
6: 28,830,515 (GRCm39) |
R367W |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,080,009 (GRCm39) |
M44K |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,952,819 (GRCm39) |
I367V |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,738,830 (GRCm39) |
L1677P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,209,717 (GRCm39) |
T246A |
probably benign |
Het |
| Nkiras1 |
A |
G |
14: 18,280,073 (GRCm38) |
R155G |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,089,379 (GRCm39) |
N726S |
probably benign |
Het |
| Nyap2 |
A |
G |
1: 81,219,156 (GRCm39) |
T393A |
possibly damaging |
Het |
| Oprm1 |
A |
T |
10: 6,780,051 (GRCm39) |
I238F |
probably damaging |
Het |
| Or4b1b |
A |
G |
2: 90,112,557 (GRCm39) |
Y121H |
probably damaging |
Het |
| Or4b1d |
G |
A |
2: 89,969,489 (GRCm39) |
|
probably benign |
Het |
| Or5m11b |
T |
A |
2: 85,805,764 (GRCm39) |
M59K |
probably damaging |
Het |
| Pcnx2 |
T |
A |
8: 126,613,779 (GRCm39) |
E557D |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,472,425 (GRCm39) |
I1563V |
probably benign |
Het |
| Pramel21 |
C |
A |
4: 143,341,851 (GRCm39) |
H93Q |
probably benign |
Het |
| Prdx3 |
T |
G |
19: 60,859,848 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,669,501 (GRCm39) |
R295K |
probably null |
Het |
| Rhbdl2 |
T |
A |
4: 123,723,463 (GRCm39) |
L289* |
probably null |
Het |
| Rnps1 |
A |
G |
17: 24,640,835 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,395,823 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,603,033 (GRCm39) |
Y4518N |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,772,436 (GRCm39) |
N296S |
probably damaging |
Het |
| Sipa1l3 |
G |
A |
7: 29,047,964 (GRCm39) |
T1308M |
probably damaging |
Het |
| Slc39a9 |
A |
G |
12: 80,691,662 (GRCm39) |
D3G |
probably damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,662,740 (GRCm39) |
E165G |
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,686,776 (GRCm39) |
I48F |
probably benign |
Het |
| Stxbp3 |
C |
T |
3: 108,709,476 (GRCm39) |
C354Y |
probably damaging |
Het |
| Terb1 |
C |
A |
8: 105,199,674 (GRCm39) |
|
probably benign |
Het |
| Tfrc |
G |
A |
16: 32,443,649 (GRCm39) |
|
probably null |
Het |
| Toporsl |
A |
C |
4: 52,611,134 (GRCm39) |
R342S |
probably benign |
Het |
| Ube2d3 |
T |
A |
3: 135,170,978 (GRCm39) |
W141R |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,910,486 (GRCm39) |
V3417L |
probably benign |
Het |
|
| Other mutations in Mep1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01016:Mep1a
|
APN |
17 |
43,789,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02814:Mep1a
|
APN |
17 |
43,788,112 (GRCm39) |
missense |
probably benign |
|
|
IGL03000:Mep1a
|
APN |
17 |
43,785,881 (GRCm39) |
missense |
probably benign |
|
|
IGL03335:Mep1a
|
APN |
17 |
43,788,064 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
PIT4544001:Mep1a
|
UTSW |
17 |
43,793,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0127:Mep1a
|
UTSW |
17 |
43,808,777 (GRCm39) |
splice site |
probably benign |
|
|
R0306:Mep1a
|
UTSW |
17 |
43,813,534 (GRCm39) |
splice site |
probably benign |
|
|
R0329:Mep1a
|
UTSW |
17 |
43,808,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0330:Mep1a
|
UTSW |
17 |
43,808,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0358:Mep1a
|
UTSW |
17 |
43,789,841 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0667:Mep1a
|
UTSW |
17 |
43,789,081 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1101:Mep1a
|
UTSW |
17 |
43,802,584 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1458:Mep1a
|
UTSW |
17 |
43,802,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1525:Mep1a
|
UTSW |
17 |
43,802,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Mep1a
|
UTSW |
17 |
43,813,573 (GRCm39) |
missense |
probably benign |
|
|
R2014:Mep1a
|
UTSW |
17 |
43,808,797 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2212:Mep1a
|
UTSW |
17 |
43,788,154 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3946:Mep1a
|
UTSW |
17 |
43,785,932 (GRCm39) |
nonsense |
probably null |
|
|
R4400:Mep1a
|
UTSW |
17 |
43,785,897 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4598:Mep1a
|
UTSW |
17 |
43,802,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4616:Mep1a
|
UTSW |
17 |
43,797,132 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4688:Mep1a
|
UTSW |
17 |
43,793,139 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5085:Mep1a
|
UTSW |
17 |
43,789,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5355:Mep1a
|
UTSW |
17 |
43,788,037 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5832:Mep1a
|
UTSW |
17 |
43,789,055 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5833:Mep1a
|
UTSW |
17 |
43,789,055 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5834:Mep1a
|
UTSW |
17 |
43,789,055 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5835:Mep1a
|
UTSW |
17 |
43,789,055 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6280:Mep1a
|
UTSW |
17 |
43,813,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6340:Mep1a
|
UTSW |
17 |
43,790,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6340:Mep1a
|
UTSW |
17 |
43,789,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6934:Mep1a
|
UTSW |
17 |
43,793,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7247:Mep1a
|
UTSW |
17 |
43,785,995 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7660:Mep1a
|
UTSW |
17 |
43,789,868 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7685:Mep1a
|
UTSW |
17 |
43,790,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7703:Mep1a
|
UTSW |
17 |
43,788,997 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7871:Mep1a
|
UTSW |
17 |
43,790,126 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8131:Mep1a
|
UTSW |
17 |
43,813,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8783:Mep1a
|
UTSW |
17 |
43,789,081 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8880:Mep1a
|
UTSW |
17 |
43,808,808 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9448:Mep1a
|
UTSW |
17 |
43,805,869 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9455:Mep1a
|
UTSW |
17 |
43,805,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF010:Mep1a
|
UTSW |
17 |
43,797,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Mep1a
|
UTSW |
17 |
43,802,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mep1a
|
UTSW |
17 |
43,788,211 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1177:Mep1a
|
UTSW |
17 |
43,797,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mep1a
|
UTSW |
17 |
43,797,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation