Incidental Mutation 'IGL02814:Mep1a'
| ID |
360716 |
| 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 # |
IGL02814
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
43785215-43813703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43788112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 648
(H648L)
|
| 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: H661L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: H661L
| 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: H648L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: H648L
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,045,293 (GRCm39) |
F347I |
possibly damaging |
Het |
| Adcy5 |
A |
G |
16: 35,124,019 (GRCm39) |
T1233A |
probably benign |
Het |
| Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,321,706 (GRCm39) |
E1083G |
probably damaging |
Het |
| Capn8 |
C |
A |
1: 182,426,336 (GRCm39) |
L224M |
probably damaging |
Het |
| Cdh4 |
A |
T |
2: 179,422,267 (GRCm39) |
E130D |
probably benign |
Het |
| Cgn |
G |
A |
3: 94,681,550 (GRCm39) |
T515M |
probably benign |
Het |
| Chrna10 |
C |
T |
7: 101,761,469 (GRCm39) |
G374D |
probably benign |
Het |
| Chrnb1 |
T |
A |
11: 69,686,506 (GRCm39) |
Y38F |
probably damaging |
Het |
| Cyld |
A |
G |
8: 89,471,525 (GRCm39) |
D621G |
probably benign |
Het |
| Cyp4f37 |
T |
C |
17: 32,853,645 (GRCm39) |
F443S |
probably benign |
Het |
| Dctn1 |
C |
A |
6: 83,166,896 (GRCm39) |
A152E |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,748,791 (GRCm39) |
Y228* |
probably null |
Het |
| Fbln2 |
T |
A |
6: 91,242,839 (GRCm39) |
C846* |
probably null |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,420,345 (GRCm39) |
S833G |
possibly damaging |
Het |
| Gda |
T |
C |
19: 21,405,839 (GRCm39) |
|
probably null |
Het |
| Gjb5 |
C |
T |
4: 127,249,355 (GRCm39) |
R263Q |
probably benign |
Het |
| Gtf2i |
T |
C |
5: 134,315,558 (GRCm39) |
K193E |
probably damaging |
Het |
| H4c14 |
C |
A |
3: 96,170,603 (GRCm39) |
K6N |
probably benign |
Het |
| Ints1 |
C |
T |
5: 139,758,146 (GRCm39) |
E244K |
possibly damaging |
Het |
| Kat14 |
G |
A |
2: 144,244,383 (GRCm39) |
S412N |
probably benign |
Het |
| Kcnn3 |
A |
T |
3: 89,428,482 (GRCm39) |
H236L |
possibly damaging |
Het |
| Kif15 |
T |
A |
9: 122,832,705 (GRCm39) |
I1005K |
possibly damaging |
Het |
| Klrc1 |
T |
C |
6: 129,655,855 (GRCm39) |
T7A |
possibly damaging |
Het |
| Lcp2 |
T |
C |
11: 34,021,033 (GRCm39) |
S130P |
probably damaging |
Het |
| Ldha |
T |
A |
7: 46,500,315 (GRCm39) |
Y133* |
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,337,080 (GRCm39) |
C1231R |
probably damaging |
Het |
| Lrrn1 |
T |
A |
6: 107,544,313 (GRCm39) |
V37D |
probably damaging |
Het |
| Mmp25 |
C |
T |
17: 23,858,736 (GRCm39) |
G272R |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,965,801 (GRCm39) |
|
probably benign |
Het |
| Myl3 |
G |
T |
9: 110,597,059 (GRCm39) |
E140* |
probably null |
Het |
| Nlrp4f |
A |
G |
13: 65,332,856 (GRCm39) |
S809P |
probably damaging |
Het |
| Nrde2 |
T |
C |
12: 100,110,394 (GRCm39) |
I207M |
probably null |
Het |
| Or13a26 |
T |
C |
7: 140,285,046 (GRCm39) |
L294P |
probably damaging |
Het |
| Or2y8 |
C |
T |
11: 52,035,637 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or5p54 |
T |
C |
7: 107,553,977 (GRCm39) |
I43T |
probably benign |
Het |
| Paics |
T |
G |
5: 77,110,320 (GRCm39) |
V245G |
probably damaging |
Het |
| Pank1 |
A |
G |
19: 34,818,255 (GRCm39) |
F95L |
probably damaging |
Het |
| Pde4dip |
A |
C |
3: 97,674,416 (GRCm39) |
C167G |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,840,957 (GRCm39) |
T542K |
possibly damaging |
Het |
| Piezo1 |
A |
G |
8: 123,224,954 (GRCm39) |
Y651H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,289,353 (GRCm39) |
C1208* |
probably null |
Het |
| Pkd1l1 |
T |
A |
11: 8,852,582 (GRCm39) |
T634S |
probably benign |
Het |
| Rab32 |
T |
C |
10: 10,422,171 (GRCm39) |
T183A |
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,621,583 (GRCm39) |
I206V |
possibly damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,975 (GRCm39) |
I398V |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,159,725 (GRCm39) |
E101G |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,310,434 (GRCm39) |
L388P |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,339,588 (GRCm39) |
Y129C |
probably damaging |
Het |
| Slc7a13 |
G |
A |
4: 19,839,387 (GRCm39) |
C330Y |
probably benign |
Het |
| Spock1 |
A |
T |
13: 57,735,486 (GRCm39) |
V101E |
probably damaging |
Het |
| Sympk |
T |
A |
7: 18,787,198 (GRCm39) |
W1029R |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,992,150 (GRCm39) |
H2008Q |
possibly damaging |
Het |
| Tgs1 |
T |
A |
4: 3,585,719 (GRCm39) |
Y199N |
probably damaging |
Het |
| Trim10 |
T |
A |
17: 37,188,228 (GRCm39) |
C481* |
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,898,170 (GRCm39) |
E395G |
probably damaging |
Het |
| Wfs1 |
A |
C |
5: 37,125,013 (GRCm39) |
V626G |
possibly damaging |
Het |
| Zfp689 |
A |
G |
7: 127,044,193 (GRCm39) |
S146P |
possibly damaging |
Het |
| Zfp786 |
T |
C |
6: 47,796,775 (GRCm39) |
H721R |
probably damaging |
Het |
| Zfta |
C |
A |
19: 7,397,787 (GRCm39) |
N111K |
possibly damaging |
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 |
|
IGL03000:Mep1a
|
APN |
17 |
43,785,881 (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 |
2015-12-18 |
Incidental Mutation