Incidental Mutation 'R1101:Mep1a'
| ID |
98138 |
| 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 |
039174-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1101 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
43785215-43813703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43802584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 147
(D147G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024707]
[ENSMUST00000117137]
|
| AlphaFold |
P28825 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024707
AA Change: D160G
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: D160G
| 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: D147G
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: D147G
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 91.2%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
| 2610021A01Rik |
C |
A |
7: 41,276,783 (GRCm39) |
H829N |
probably damaging |
Het |
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Abi3bp |
G |
T |
16: 56,426,521 (GRCm39) |
R512L |
probably damaging |
Het |
| Acot2 |
T |
G |
12: 84,039,624 (GRCm39) |
S378A |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,096,205 (GRCm39) |
I2360T |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,989,625 (GRCm39) |
D155G |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,993,610 (GRCm39) |
V714A |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,587,585 (GRCm39) |
V170I |
possibly damaging |
Het |
| Clcn2 |
G |
A |
16: 20,522,345 (GRCm39) |
T787I |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,864,599 (GRCm39) |
H131R |
probably damaging |
Het |
| Dct |
T |
G |
14: 118,274,034 (GRCm39) |
D291A |
probably damaging |
Het |
| Dhx37 |
A |
G |
5: 125,492,216 (GRCm39) |
Y1128H |
probably damaging |
Het |
| Dip2c |
A |
T |
13: 9,684,780 (GRCm39) |
I1174F |
probably damaging |
Het |
| Eif3l |
A |
G |
15: 78,959,467 (GRCm39) |
Y3C |
probably damaging |
Het |
| Enpp5 |
A |
G |
17: 44,392,258 (GRCm39) |
N229S |
possibly damaging |
Het |
| Fam83b |
A |
T |
9: 76,452,952 (GRCm39) |
H38Q |
possibly damaging |
Het |
| Fcamr |
T |
A |
1: 130,742,223 (GRCm39) |
|
probably null |
Het |
| Hdac2 |
G |
A |
10: 36,867,805 (GRCm39) |
V184I |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,981,700 (GRCm39) |
L5Q |
probably damaging |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Ireb2 |
T |
A |
9: 54,816,986 (GRCm39) |
H951Q |
probably benign |
Het |
| Lman1 |
T |
A |
18: 66,120,969 (GRCm39) |
M418L |
probably benign |
Het |
| Lrrfip2 |
C |
T |
9: 111,019,293 (GRCm39) |
R275W |
probably damaging |
Het |
| Mast3 |
T |
A |
8: 71,239,307 (GRCm39) |
I424F |
probably damaging |
Het |
| Mtr |
C |
A |
13: 12,204,411 (GRCm39) |
E1128D |
possibly damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,790,932 (GRCm39) |
S534R |
probably benign |
Het |
| Or4c107 |
A |
T |
2: 88,789,328 (GRCm39) |
I173F |
possibly damaging |
Het |
| Or4k42 |
T |
C |
2: 111,319,787 (GRCm39) |
T239A |
probably damaging |
Het |
| Or5k1 |
A |
G |
16: 58,617,615 (GRCm39) |
V198A |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,707,828 (GRCm39) |
D882V |
probably damaging |
Het |
| Pik3cg |
C |
T |
12: 32,245,645 (GRCm39) |
G868S |
probably null |
Het |
| Plppr5 |
T |
G |
3: 117,456,172 (GRCm39) |
M231R |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,638,897 (GRCm39) |
T46A |
probably benign |
Het |
| Ppp4r3a |
C |
A |
12: 101,017,830 (GRCm39) |
R440L |
probably damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,444,071 (GRCm39) |
T364S |
probably benign |
Het |
| Sirt3 |
A |
G |
7: 140,449,541 (GRCm39) |
V135A |
possibly damaging |
Het |
| Supt16 |
T |
C |
14: 52,408,896 (GRCm39) |
N826S |
probably null |
Het |
| Tbr1 |
T |
C |
2: 61,635,083 (GRCm39) |
I11T |
probably benign |
Het |
| Trim72 |
A |
G |
7: 127,609,419 (GRCm39) |
E407G |
possibly damaging |
Het |
| Vps72 |
C |
A |
3: 95,026,487 (GRCm39) |
T144K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGAGACTGACTCTCCTGTTCCC -3'
(R):5'- AGCTTTGAATGAGTCTGTGGCCC -3'
Sequencing Primer
(F):5'- GCCTGCAACAGATGTTCTCAG -3'
(R):5'- cactaagcaatctcccagcc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation