Incidental Mutation 'R6934:Mep1a'
| ID |
540225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mep1a
|
| Ensembl Gene |
ENSMUSG00000023914 |
| Gene Name |
meprin 1 alpha |
| Synonyms |
Mep-1, meprin A alpha-subunit, meprin alpha, Mep-1a, Mep1 |
| MMRRC Submission |
045049-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6934 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
43785215-43813703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43793121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 361
(V361E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024707]
[ENSMUST00000117137]
|
| AlphaFold |
P28825 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024707
AA Change: V374E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: V374E
| 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 damaging
Transcript: ENSMUST00000117137
AA Change: V361E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: V361E
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
T |
A |
8: 122,266,712 (GRCm39) |
Y58F |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,218,251 (GRCm39) |
V58A |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,322,520 (GRCm39) |
M289V |
probably benign |
Het |
| Bhmt2 |
A |
T |
13: 93,798,819 (GRCm39) |
I334N |
probably benign |
Het |
| Copa |
T |
A |
1: 171,938,253 (GRCm39) |
I513N |
possibly damaging |
Het |
| Cspg4b |
T |
C |
13: 113,505,800 (GRCm39) |
S2310P |
probably benign |
Het |
| Ctif |
G |
A |
18: 75,568,431 (GRCm39) |
T569M |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 37,691,225 (GRCm39) |
M231K |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,653,824 (GRCm39) |
|
probably null |
Het |
| Fat3 |
T |
C |
9: 16,288,252 (GRCm39) |
I424V |
probably damaging |
Het |
| Foxred2 |
G |
T |
15: 77,836,530 (GRCm39) |
C328* |
probably null |
Het |
| Gemin5 |
A |
T |
11: 58,038,738 (GRCm39) |
H590Q |
probably damaging |
Het |
| Gm5475 |
T |
C |
15: 100,325,007 (GRCm39) |
|
probably benign |
Het |
| Gmip |
A |
G |
8: 70,273,576 (GRCm39) |
T956A |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,134,281 (GRCm39) |
D106E |
probably benign |
Het |
| Irs2 |
A |
T |
8: 11,054,697 (GRCm39) |
I1245N |
probably damaging |
Het |
| Kcnk1 |
A |
G |
8: 126,752,129 (GRCm39) |
Y245C |
probably damaging |
Het |
| Krtap4-9 |
A |
T |
11: 99,676,708 (GRCm39) |
R210* |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,081,538 (GRCm39) |
D1325G |
probably benign |
Het |
| Lyz3 |
C |
T |
10: 117,074,413 (GRCm39) |
D25N |
probably benign |
Het |
| Mrgprx2 |
A |
G |
7: 48,131,813 (GRCm39) |
I92T |
possibly damaging |
Het |
| Nup214 |
A |
T |
2: 31,872,683 (GRCm39) |
R242* |
probably null |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or13a24 |
T |
G |
7: 140,154,564 (GRCm39) |
L166R |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,026 (GRCm39) |
V148A |
probably benign |
Het |
| Or8b1c |
T |
G |
9: 38,384,472 (GRCm39) |
I143S |
probably benign |
Het |
| Orc2 |
T |
C |
1: 58,539,523 (GRCm39) |
K39E |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,912,373 (GRCm39) |
G736D |
probably benign |
Het |
| Ppp2r1a |
A |
G |
17: 21,181,895 (GRCm39) |
E471G |
possibly damaging |
Het |
| Prrc2c |
G |
A |
1: 162,548,074 (GRCm39) |
P161S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,310,893 (GRCm39) |
I804V |
probably benign |
Het |
| Saal1 |
A |
G |
7: 46,352,088 (GRCm39) |
C144R |
probably benign |
Het |
| Slc29a4 |
G |
A |
5: 142,698,713 (GRCm39) |
V125I |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,305,541 (GRCm39) |
T322A |
probably benign |
Het |
| Srgap2 |
A |
T |
1: 131,244,969 (GRCm39) |
M591K |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,176 (GRCm39) |
I1478V |
probably benign |
Het |
| Tet2 |
A |
G |
3: 133,188,998 (GRCm39) |
|
probably null |
Het |
| Tmem150c |
C |
T |
5: 100,243,465 (GRCm39) |
|
probably null |
Het |
| Tmem39b |
T |
A |
4: 129,572,366 (GRCm39) |
H412L |
possibly damaging |
Het |
| Tox |
A |
C |
4: 6,697,635 (GRCm39) |
H389Q |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,202,158 (GRCm39) |
I1595T |
probably damaging |
Het |
| Vmn2r-ps117 |
T |
G |
17: 19,044,967 (GRCm39) |
Y461* |
probably null |
Het |
| Vps13a |
T |
C |
19: 16,653,558 (GRCm39) |
H1941R |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTTCCAGGCCTTAAAACCTTC -3'
(R):5'- GGTTGCTCTCTCCATAGGTG -3'
Sequencing Primer
(F):5'- AACCTTCTAATAAAACAGGTCAGAAG -3'
(R):5'- CATAGGTGCCGGCTACTTCATG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation