Incidental Mutation 'R9455:Mep1a'
| ID |
714560 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9455 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
43785215-43813703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43805867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 100
(E100G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024707]
[ENSMUST00000117137]
|
| AlphaFold |
P28825 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024707
AA Change: E100G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: E100G
| 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: E87G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: E87G
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,353,897 (GRCm39) |
Y3740H |
probably damaging |
Het |
| Acsl6 |
G |
T |
11: 54,210,752 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,667,017 (GRCm39) |
D492N |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,219,296 (GRCm39) |
E1218G |
probably damaging |
Het |
| Bcl2l15 |
C |
T |
3: 103,743,369 (GRCm39) |
T90I |
unknown |
Het |
| Bsn |
A |
G |
9: 107,988,531 (GRCm39) |
V2407A |
unknown |
Het |
| Casp8ap2 |
T |
C |
4: 32,643,924 (GRCm39) |
M999T |
possibly damaging |
Het |
| Ccdc66 |
G |
A |
14: 27,208,872 (GRCm39) |
P461S |
probably benign |
Het |
| Cd46 |
G |
A |
1: 194,744,704 (GRCm39) |
L345F |
possibly damaging |
Het |
| Cep295 |
A |
T |
9: 15,245,046 (GRCm39) |
S1137T |
possibly damaging |
Het |
| Chd7 |
A |
G |
4: 8,752,061 (GRCm39) |
Y186C |
unknown |
Het |
| Clca3b |
T |
A |
3: 144,529,023 (GRCm39) |
T884S |
unknown |
Het |
| Cndp2 |
T |
A |
18: 84,690,246 (GRCm39) |
Y232F |
probably benign |
Het |
| Cx3cr1 |
A |
T |
9: 119,880,659 (GRCm39) |
Y248N |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,524 (GRCm39) |
N282K |
possibly damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,485 (GRCm39) |
I414V |
probably benign |
Het |
| F3 |
A |
T |
3: 121,527,866 (GRCm39) |
N288I |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,945,412 (GRCm39) |
L1435P |
|
Het |
| Fbxw14 |
A |
T |
9: 109,103,567 (GRCm39) |
N371K |
probably benign |
Het |
| Firrm |
G |
T |
1: 163,781,721 (GRCm39) |
T902K |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,647,112 (GRCm39) |
E1559D |
probably benign |
Het |
| Frrs1 |
T |
A |
3: 116,695,972 (GRCm39) |
M497K |
possibly damaging |
Het |
| Gm45861 |
C |
T |
8: 28,041,394 (GRCm39) |
Q1000* |
probably null |
Het |
| Gpr152 |
T |
C |
19: 4,193,844 (GRCm39) |
S462P |
probably benign |
Het |
| Irgq |
A |
G |
7: 24,231,217 (GRCm39) |
N136S |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,099,537 (GRCm39) |
Y134C |
probably damaging |
Het |
| Klf12 |
A |
T |
14: 100,347,226 (GRCm39) |
L35H |
probably damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Ksr1 |
A |
T |
11: 78,911,602 (GRCm39) |
C727S |
possibly damaging |
Het |
| Lpin3 |
G |
T |
2: 160,737,259 (GRCm39) |
R102L |
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,058,117 (GRCm39) |
E229G |
probably damaging |
Het |
| Ly6f |
T |
A |
15: 75,141,648 (GRCm39) |
Y30* |
probably null |
Het |
| Map2k7 |
C |
G |
8: 4,293,957 (GRCm39) |
R168G |
probably damaging |
Het |
| Mrgpra6 |
T |
A |
7: 46,838,967 (GRCm39) |
Y46F |
probably damaging |
Het |
| Mroh6 |
C |
A |
15: 75,759,905 (GRCm39) |
R143L |
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,156,293 (GRCm39) |
H713Q |
probably benign |
Het |
| Ndn |
C |
T |
7: 61,998,337 (GRCm39) |
P61L |
possibly damaging |
Het |
| Or51b6 |
G |
T |
7: 103,556,200 (GRCm39) |
V182F |
|
Het |
| Pear1 |
T |
A |
3: 87,666,488 (GRCm39) |
T72S |
possibly damaging |
Het |
| Sel1l3 |
T |
A |
5: 53,289,157 (GRCm39) |
N888I |
probably damaging |
Het |
| Sell |
A |
T |
1: 163,894,218 (GRCm39) |
T171S |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,585,907 (GRCm39) |
M1K |
probably null |
Het |
| Sin3b |
G |
T |
8: 73,450,681 (GRCm39) |
A37S |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,434,399 (GRCm39) |
F723S |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,863,588 (GRCm39) |
T724A |
probably damaging |
Het |
| Slc51a |
T |
G |
16: 32,305,013 (GRCm39) |
N25H |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,668,612 (GRCm39) |
F752L |
probably benign |
Het |
| Slco4a1 |
A |
C |
2: 180,115,370 (GRCm39) |
D649A |
probably benign |
Het |
| Tax1bp1 |
T |
A |
6: 52,743,029 (GRCm39) |
H805Q |
probably damaging |
Het |
| Tgfb1i1 |
T |
C |
7: 127,852,009 (GRCm39) |
F303L |
probably damaging |
Het |
| Tsg101 |
A |
T |
7: 46,563,151 (GRCm39) |
D34E |
probably damaging |
Het |
| Tspoap1 |
T |
C |
11: 87,661,359 (GRCm39) |
S604P |
probably damaging |
Het |
| Ttll2 |
C |
A |
17: 7,619,692 (GRCm39) |
W78C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,749,334 (GRCm39) |
F3905S |
possibly damaging |
Het |
| Txnrd2 |
G |
T |
16: 18,248,615 (GRCm39) |
C57F |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,837,452 (GRCm39) |
D2697E |
probably damaging |
Het |
| Vwa8 |
G |
A |
14: 79,300,115 (GRCm39) |
V983I |
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 |
|
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 |
|
|
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'- ATTGAGACTGCAAAGATAGCTCAAG -3'
(R):5'- TTCCTCTTGCAACCCTGAGG -3'
Sequencing Primer
(F):5'- CTCAAGAGCTAAGACTTGCTTTTG -3'
(R):5'- ACGGTCAGTCCTCTGTAT -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation