Incidental Mutation 'R4616:Mep1a'
ID |
351070 |
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 |
041827-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4616 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
43785215-43813703 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 43797132 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 312
(V312M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024707]
[ENSMUST00000117137]
|
AlphaFold |
P28825 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024707
AA Change: V312M
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000024707 Gene: ENSMUSG00000023914 AA Change: V312M
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: V299M
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113838 Gene: ENSMUSG00000023914 AA Change: V299M
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 |
|
Meta Mutation Damage Score |
0.2000 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (64/64) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
C |
T |
14: 103,292,781 (GRCm39) |
T435M |
probably benign |
Het |
Adgrf5 |
T |
C |
17: 43,763,331 (GRCm39) |
F1078L |
probably benign |
Het |
Adh6a |
A |
T |
3: 138,030,708 (GRCm39) |
N110I |
probably damaging |
Het |
Aldh16a1 |
T |
C |
7: 44,798,212 (GRCm39) |
|
probably benign |
Het |
Aopep |
G |
A |
13: 63,446,565 (GRCm39) |
E123K |
probably damaging |
Het |
Arhgef17 |
A |
G |
7: 100,531,692 (GRCm39) |
F1302S |
probably damaging |
Het |
Bcl2a1a |
C |
T |
9: 88,839,506 (GRCm39) |
R135W |
probably damaging |
Het |
Bpifa6 |
T |
C |
2: 153,824,908 (GRCm39) |
S28P |
possibly damaging |
Het |
C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
Cfb |
T |
A |
17: 35,078,044 (GRCm39) |
H962L |
probably benign |
Het |
Chn2 |
G |
A |
6: 54,267,388 (GRCm39) |
M292I |
probably damaging |
Het |
Clec16a |
T |
A |
16: 10,462,747 (GRCm39) |
|
probably null |
Het |
Cyp1a1 |
T |
C |
9: 57,609,039 (GRCm39) |
S307P |
probably benign |
Het |
Dsg3 |
T |
C |
18: 20,664,616 (GRCm39) |
V538A |
probably benign |
Het |
Erbb3 |
G |
A |
10: 128,408,639 (GRCm39) |
Q815* |
probably null |
Het |
Fam90a1a |
C |
A |
8: 22,453,862 (GRCm39) |
Q406K |
possibly damaging |
Het |
Frmd3 |
T |
C |
4: 74,106,109 (GRCm39) |
V585A |
probably benign |
Het |
Gm8214 |
T |
C |
1: 183,414,094 (GRCm39) |
|
noncoding transcript |
Het |
Gpld1 |
G |
A |
13: 25,168,799 (GRCm39) |
G771D |
probably damaging |
Het |
Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
Gria2 |
A |
T |
3: 80,614,204 (GRCm39) |
I612N |
probably damaging |
Het |
Ifit1bl1 |
T |
C |
19: 34,572,010 (GRCm39) |
E149G |
probably damaging |
Het |
Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
Ighv2-9 |
G |
T |
12: 113,842,839 (GRCm39) |
T76K |
probably damaging |
Het |
Igkv6-13 |
A |
T |
6: 70,435,019 (GRCm39) |
M1K |
probably null |
Het |
Igkv8-21 |
A |
T |
6: 70,292,141 (GRCm39) |
S34T |
probably benign |
Het |
Itpr1 |
A |
G |
6: 108,458,184 (GRCm39) |
N1985D |
probably damaging |
Het |
Jkampl |
A |
G |
6: 73,446,252 (GRCm39) |
V99A |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,637,454 (GRCm39) |
|
probably null |
Het |
Lamc2 |
T |
C |
1: 153,041,915 (GRCm39) |
Y73C |
probably damaging |
Het |
Maff |
A |
G |
15: 79,241,898 (GRCm39) |
D105G |
probably damaging |
Het |
Mfap4 |
C |
A |
11: 61,376,335 (GRCm39) |
|
probably benign |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mrgbp |
A |
T |
2: 180,227,107 (GRCm39) |
|
silent |
Het |
Mtmr4 |
T |
C |
11: 87,501,761 (GRCm39) |
L548S |
probably damaging |
Het |
Myo7b |
T |
C |
18: 32,136,540 (GRCm39) |
|
probably null |
Het |
Myo9a |
T |
C |
9: 59,728,932 (GRCm39) |
I596T |
probably damaging |
Het |
Or2f1b |
G |
T |
6: 42,739,352 (GRCm39) |
R122L |
probably benign |
Het |
Or52e3 |
C |
T |
7: 102,869,629 (GRCm39) |
R235* |
probably null |
Het |
Pcsk5 |
T |
G |
19: 17,538,114 (GRCm39) |
Q904H |
probably benign |
Het |
Pdzrn3 |
G |
T |
6: 101,128,970 (GRCm39) |
H565Q |
probably damaging |
Het |
Phkg2 |
C |
T |
7: 127,176,792 (GRCm39) |
R61W |
probably damaging |
Het |
Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,012,087 (GRCm39) |
I337N |
probably damaging |
Het |
Psmd3 |
T |
C |
11: 98,573,752 (GRCm39) |
V66A |
probably benign |
Het |
Ptger3 |
T |
C |
3: 157,272,931 (GRCm39) |
S93P |
probably damaging |
Het |
Rbm27 |
T |
A |
18: 42,434,840 (GRCm39) |
D301E |
probably damaging |
Het |
Rdh16 |
A |
T |
10: 127,637,382 (GRCm39) |
|
probably null |
Het |
Slc35a5 |
A |
T |
16: 44,964,655 (GRCm39) |
F193I |
probably benign |
Het |
Slc4a4 |
A |
G |
5: 89,186,420 (GRCm39) |
K167R |
probably damaging |
Het |
Sort1 |
A |
T |
3: 108,262,857 (GRCm39) |
T772S |
possibly damaging |
Het |
Sptbn5 |
T |
A |
2: 119,879,238 (GRCm39) |
|
noncoding transcript |
Het |
Stard5 |
G |
T |
7: 83,282,489 (GRCm39) |
|
probably benign |
Het |
Tbc1d22a |
A |
G |
15: 86,119,886 (GRCm39) |
T61A |
probably damaging |
Het |
Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
Usp53 |
A |
T |
3: 122,752,769 (GRCm39) |
M80K |
probably damaging |
Het |
Vmn1r209 |
A |
T |
13: 22,990,135 (GRCm39) |
L185Q |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,661,862 (GRCm39) |
I651T |
probably benign |
Het |
Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,478,127 (GRCm39) |
S3556P |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATTAAGGTTTCCTGCATGCAG -3'
(R):5'- ATGACAGTAAGGGCCTTTGGG -3'
Sequencing Primer
(F):5'- CACAGCATGGAGACTTTTTACTGAG -3'
(R):5'- GTGGCTTAAGACATTAACTCTTTGG -3'
|
Posted On |
2015-10-08 |