Incidental Mutation 'IGL03000:Mep1a'
| ID |
407288 |
| 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 # |
IGL03000
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
43785215-43813703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43785881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 736
(V736A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024707]
[ENSMUST00000117137]
|
| AlphaFold |
P28825 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024707
AA Change: V749A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: V749A
| 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 benign
Transcript: ENSMUST00000117137
AA Change: V736A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: V736A
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,360,959 (GRCm39) |
S445G |
probably benign |
Het |
| Abca5 |
C |
T |
11: 110,208,640 (GRCm39) |
V226I |
probably benign |
Het |
| Ankrd34c |
A |
T |
9: 89,611,239 (GRCm39) |
D367E |
probably benign |
Het |
| Bmp6 |
G |
T |
13: 38,682,887 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,397 (GRCm39) |
|
probably null |
Het |
| Cblb |
T |
G |
16: 52,024,905 (GRCm39) |
D933E |
probably damaging |
Het |
| Ccny |
A |
G |
18: 9,353,489 (GRCm39) |
S95P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,985,115 (GRCm39) |
I1658V |
probably damaging |
Het |
| Cntn6 |
A |
T |
6: 104,781,347 (GRCm39) |
T478S |
probably damaging |
Het |
| Cpne7 |
T |
C |
8: 123,853,435 (GRCm39) |
F247L |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,242,724 (GRCm39) |
E29G |
probably damaging |
Het |
| Dctn3 |
T |
A |
4: 41,719,912 (GRCm39) |
I65F |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,390,969 (GRCm39) |
E743G |
probably benign |
Het |
| Dus2 |
C |
A |
8: 106,775,316 (GRCm39) |
T281N |
probably damaging |
Het |
| Gbx1 |
G |
T |
5: 24,709,924 (GRCm39) |
T307K |
probably benign |
Het |
| Gtf2ird2 |
A |
T |
5: 134,223,745 (GRCm39) |
N93I |
probably benign |
Het |
| Heatr1 |
A |
G |
13: 12,449,292 (GRCm39) |
D1930G |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,782,564 (GRCm39) |
I334V |
probably benign |
Het |
| Ints1 |
G |
T |
5: 139,752,261 (GRCm39) |
N756K |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,693,635 (GRCm39) |
F404L |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,489,170 (GRCm39) |
R4590W |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,699,355 (GRCm39) |
V134E |
probably damaging |
Het |
| Mex3a |
T |
A |
3: 88,443,602 (GRCm39) |
I226N |
probably damaging |
Het |
| Mgl2 |
A |
T |
11: 70,025,026 (GRCm39) |
K16* |
probably null |
Het |
| Mms22l |
G |
T |
4: 24,581,161 (GRCm39) |
V864L |
probably damaging |
Het |
| Mroh4 |
T |
A |
15: 74,487,963 (GRCm39) |
M320L |
probably benign |
Het |
| Mylk3 |
G |
A |
8: 86,085,806 (GRCm39) |
P243S |
probably damaging |
Het |
| Nbea |
A |
C |
3: 55,912,048 (GRCm39) |
D1246E |
possibly damaging |
Het |
| Ndnf |
A |
G |
6: 65,680,299 (GRCm39) |
T193A |
possibly damaging |
Het |
| Nfasc |
T |
C |
1: 132,549,247 (GRCm39) |
|
probably benign |
Het |
| Or6k8-ps1 |
A |
G |
1: 173,979,126 (GRCm39) |
T15A |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,378,518 (GRCm39) |
F2008I |
probably damaging |
Het |
| Rhag |
A |
G |
17: 41,139,413 (GRCm39) |
K116R |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,798,721 (GRCm39) |
|
probably benign |
Het |
| Slc35f5 |
C |
A |
1: 125,502,479 (GRCm39) |
T277N |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,222,675 (GRCm39) |
|
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,312,032 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,024,365 (GRCm39) |
S830P |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,122,476 (GRCm39) |
T112A |
probably benign |
Het |
| Ttc34 |
T |
C |
4: 154,949,888 (GRCm39) |
V947A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,642,953 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
T |
15: 38,025,096 (GRCm39) |
V560D |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,282,053 (GRCm39) |
E1856V |
possibly damaging |
Het |
| Zfp142 |
T |
C |
1: 74,612,777 (GRCm39) |
M457V |
probably benign |
Het |
| Zfp711 |
C |
T |
X: 111,534,555 (GRCm39) |
Q137* |
probably null |
Het |
| Zkscan17 |
T |
C |
11: 59,377,986 (GRCm39) |
Y399C |
probably damaging |
Het |
| Zswim6 |
T |
G |
13: 107,863,649 (GRCm39) |
|
noncoding transcript |
Het |
| Zswim6 |
T |
A |
13: 107,863,650 (GRCm39) |
|
noncoding transcript |
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 |
|
|
IGL03335:Mep1a
|
APN |
17 |
43,788,064 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03410:Mep1a
|
APN |
17 |
43,788,986 (GRCm39) |
splice site |
probably null |
|
|
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