Incidental Mutation 'R4400:Mep1a'
ID |
326607 |
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 |
041131-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4400 (G1)
|
Quality Score |
112 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
43785215-43813703 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 43785897 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 731
(I731F)
|
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: I744F
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000024707 Gene: ENSMUSG00000023914 AA Change: I744F
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: I731F
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000113838 Gene: ENSMUSG00000023914 AA Change: I731F
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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.3%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp4b |
A |
G |
8: 13,438,810 (GRCm39) |
F189L |
probably damaging |
Het |
Atp8a1 |
A |
T |
5: 67,922,221 (GRCm39) |
Y372N |
probably benign |
Het |
Bves |
T |
C |
10: 45,245,389 (GRCm39) |
V354A |
probably benign |
Het |
Cd79b |
A |
T |
11: 106,202,836 (GRCm39) |
Y195* |
probably null |
Het |
Cog6 |
A |
C |
3: 52,920,362 (GRCm39) |
D131E |
probably benign |
Het |
Elp3 |
C |
T |
14: 65,785,539 (GRCm39) |
E421K |
possibly damaging |
Het |
Fbxw28 |
A |
T |
9: 109,157,378 (GRCm39) |
F237Y |
probably damaging |
Het |
Fezf1 |
T |
C |
6: 23,247,709 (GRCm39) |
N122S |
probably benign |
Het |
Galnt2 |
A |
G |
8: 125,051,042 (GRCm39) |
K157E |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,871,970 (GRCm39) |
E141G |
possibly damaging |
Het |
Gm26888 |
T |
C |
11: 119,044,853 (GRCm39) |
|
silent |
Het |
Gnrhr |
T |
C |
5: 86,330,108 (GRCm39) |
|
probably null |
Het |
Hoxd13 |
A |
T |
2: 74,500,359 (GRCm39) |
D300V |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,275,433 (GRCm39) |
A2748T |
probably benign |
Het |
Hyal2 |
A |
G |
9: 107,448,052 (GRCm39) |
N235S |
probably damaging |
Het |
Itgam |
T |
G |
7: 127,680,830 (GRCm39) |
L253R |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Matr3 |
A |
T |
18: 35,716,969 (GRCm39) |
K591N |
possibly damaging |
Het |
Mrtfa |
G |
A |
15: 80,905,124 (GRCm39) |
Q103* |
probably null |
Het |
Muc5b |
A |
G |
7: 141,415,124 (GRCm39) |
D2690G |
possibly damaging |
Het |
Nlrc5 |
A |
G |
8: 95,220,981 (GRCm39) |
Q1140R |
probably benign |
Het |
Or14c39 |
A |
G |
7: 86,343,798 (GRCm39) |
I45V |
probably benign |
Het |
Or5ac23 |
C |
T |
16: 59,148,961 (GRCm39) |
V304I |
probably benign |
Het |
Or6b6 |
A |
G |
7: 106,571,209 (GRCm39) |
L114P |
probably damaging |
Het |
Plcl1 |
T |
C |
1: 55,754,736 (GRCm39) |
F1028L |
probably damaging |
Het |
Plpp2 |
A |
G |
10: 79,363,327 (GRCm39) |
V106A |
possibly damaging |
Het |
Prpf8 |
A |
G |
11: 75,381,528 (GRCm39) |
T255A |
possibly damaging |
Het |
Shoc2 |
A |
G |
19: 54,019,660 (GRCm39) |
I568V |
probably benign |
Het |
Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
Ssrp1 |
A |
T |
2: 84,868,285 (GRCm39) |
D9V |
probably damaging |
Het |
Strn3 |
A |
T |
12: 51,694,883 (GRCm39) |
D293E |
possibly damaging |
Het |
Tbx3 |
G |
T |
5: 119,818,636 (GRCm39) |
D404Y |
probably damaging |
Het |
Tdrd7 |
T |
C |
4: 46,005,540 (GRCm39) |
S416P |
possibly damaging |
Het |
Trim60 |
G |
T |
8: 65,453,864 (GRCm39) |
Y128* |
probably null |
Het |
Tspoap1 |
T |
C |
11: 87,666,429 (GRCm39) |
S947P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,612,739 (GRCm39) |
S17113R |
probably damaging |
Het |
Ubqln1 |
T |
A |
13: 58,341,202 (GRCm39) |
N183I |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,189,167 (GRCm39) |
N3917D |
possibly damaging |
Het |
Ucp2 |
A |
G |
7: 100,148,557 (GRCm39) |
*310W |
probably null |
Het |
Wdr76 |
A |
G |
2: 121,359,314 (GRCm39) |
M218V |
probably damaging |
Het |
Zranb3 |
A |
C |
1: 127,884,392 (GRCm39) |
L998R |
possibly damaging |
Het |
Zxdc |
G |
A |
6: 90,346,792 (GRCm39) |
G51E |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGCAGAAGCATAGCAGAAC -3'
(R):5'- ACGTGTAAAGCCCATGGGTG -3'
Sequencing Primer
(F):5'- CTGTACAGGGATGGAGTGGCC -3'
(R):5'- CTGGAAGTGTTCTGCAATTATTTTC -3'
|
Posted On |
2015-07-07 |