Incidental Mutation 'IGL03335:Mep1a'
| ID |
417017 |
| 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 # |
IGL03335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
43785215-43813703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43788064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 664
(D664V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024707]
[ENSMUST00000117137]
|
| AlphaFold |
P28825 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024707
AA Change: D677V
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: D677V
| 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 |
possibly damaging
Transcript: ENSMUST00000117137
AA Change: D664V
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: D664V
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,985,258 (GRCm39) |
V713A |
probably benign |
Het |
| Abtb3 |
A |
T |
10: 85,494,222 (GRCm39) |
|
probably benign |
Het |
| Actr8 |
T |
C |
14: 29,700,514 (GRCm39) |
V31A |
probably benign |
Het |
| Alcam |
A |
C |
16: 52,111,366 (GRCm39) |
Y244* |
probably null |
Het |
| Ankrd24 |
A |
G |
10: 81,482,967 (GRCm39) |
S972G |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,115,319 (GRCm39) |
V768E |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,661 (GRCm39) |
I1212V |
probably benign |
Het |
| Catsper1 |
C |
T |
19: 5,386,339 (GRCm39) |
R191C |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,949,386 (GRCm39) |
V57D |
probably benign |
Het |
| Cpsf3 |
T |
C |
12: 21,356,888 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,365,140 (GRCm39) |
S1633P |
probably damaging |
Het |
| Dsg1c |
G |
A |
18: 20,416,754 (GRCm39) |
R885Q |
probably benign |
Het |
| Egfl6 |
C |
A |
X: 165,321,689 (GRCm39) |
G272W |
probably damaging |
Het |
| Ermard |
T |
C |
17: 15,279,668 (GRCm39) |
L486P |
probably damaging |
Het |
| F13b |
A |
T |
1: 139,450,124 (GRCm39) |
L595F |
probably damaging |
Het |
| Foxm1 |
A |
G |
6: 128,349,531 (GRCm39) |
N350S |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,881,803 (GRCm39) |
|
probably benign |
Het |
| Gpr152 |
C |
A |
19: 4,193,770 (GRCm39) |
T437N |
possibly damaging |
Het |
| Icmt |
T |
A |
4: 152,385,154 (GRCm39) |
Y205* |
probably null |
Het |
| Ints8 |
A |
T |
4: 11,216,460 (GRCm39) |
F844I |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,574,449 (GRCm39) |
N966K |
probably benign |
Het |
| Myo7b |
T |
A |
18: 32,118,073 (GRCm39) |
Q851L |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,850 (GRCm39) |
H2095R |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,639,366 (GRCm39) |
L4P |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,329,947 (GRCm39) |
N166K |
probably benign |
Het |
| Qrfprl |
T |
C |
6: 65,430,101 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
G |
3: 79,006,492 (GRCm39) |
M137T |
probably damaging |
Het |
| Rbm15b |
G |
A |
9: 106,761,538 (GRCm39) |
H877Y |
probably damaging |
Het |
| Rbm45 |
T |
C |
2: 76,206,777 (GRCm39) |
L263P |
probably damaging |
Het |
| Rprd1b |
T |
C |
2: 157,916,884 (GRCm39) |
V288A |
probably damaging |
Het |
| Tmtc3 |
C |
A |
10: 100,302,116 (GRCm39) |
V278L |
probably damaging |
Het |
| Tomm70a |
A |
G |
16: 56,970,289 (GRCm39) |
T556A |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 57,035,504 (GRCm39) |
E143G |
probably damaging |
Het |
| Trpm3 |
G |
T |
19: 22,903,435 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
T |
C |
5: 87,054,499 (GRCm39) |
E94G |
probably benign |
Het |
| Vmn1r174 |
T |
C |
7: 23,453,937 (GRCm39) |
V201A |
probably benign |
Het |
| Zfp352 |
T |
C |
4: 90,112,583 (GRCm39) |
F241S |
probably 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 |
|
IGL02814:Mep1a
|
APN |
17 |
43,788,112 (GRCm39) |
missense |
probably benign |
|
|
IGL03000:Mep1a
|
APN |
17 |
43,785,881 (GRCm39) |
missense |
probably benign |
|
|
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