Incidental Mutation 'R5835:Mep1a'
| ID |
449569 |
| 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 |
044056-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5835 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
43785215-43813703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43789055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 574
(H574Y)
|
| 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: H587Y
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: H587Y
| 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: H574Y
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: H574Y
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A2m |
A |
G |
6: 121,616,295 (GRCm39) |
K141R |
probably damaging |
Het |
| Ablim3 |
T |
C |
18: 61,956,993 (GRCm39) |
E278G |
probably damaging |
Het |
| Adam28 |
A |
G |
14: 68,893,130 (GRCm39) |
W4R |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,742,230 (GRCm39) |
N614S |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,230,964 (GRCm39) |
S1182P |
probably damaging |
Het |
| Asb8 |
A |
T |
15: 98,034,263 (GRCm39) |
D97E |
probably damaging |
Het |
| AU041133 |
T |
A |
10: 81,987,046 (GRCm39) |
L232H |
probably damaging |
Het |
| Bmp2k |
T |
G |
5: 97,204,841 (GRCm39) |
V392G |
possibly damaging |
Het |
| Capn12 |
C |
A |
7: 28,581,383 (GRCm39) |
H79N |
probably benign |
Het |
| Casp2 |
C |
A |
6: 42,244,520 (GRCm39) |
S54R |
possibly damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,288,740 (GRCm39) |
S163P |
possibly damaging |
Het |
| Ccdc92b |
A |
G |
11: 74,528,838 (GRCm39) |
E114G |
probably benign |
Het |
| Cd209c |
C |
A |
8: 3,995,699 (GRCm39) |
M34I |
probably benign |
Het |
| Ceacam18 |
A |
T |
7: 43,286,382 (GRCm39) |
H85L |
probably benign |
Het |
| Cndp1 |
C |
A |
18: 84,630,958 (GRCm39) |
A434S |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,851,129 (GRCm39) |
T1581S |
probably benign |
Het |
| Cyb5d2 |
A |
T |
11: 72,680,036 (GRCm39) |
D86E |
probably damaging |
Het |
| Duox1 |
T |
G |
2: 122,158,341 (GRCm39) |
V608G |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,649,844 (GRCm39) |
R425G |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,287,129 (GRCm39) |
I798N |
probably damaging |
Het |
| Habp2 |
T |
A |
19: 56,295,218 (GRCm39) |
D36E |
probably benign |
Het |
| Herpud1 |
T |
C |
8: 95,118,867 (GRCm39) |
V207A |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,970,534 (GRCm39) |
I561V |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Igkv18-36 |
A |
G |
6: 69,969,512 (GRCm39) |
I93T |
probably damaging |
Het |
| Kalrn |
T |
G |
16: 33,807,461 (GRCm39) |
E2636A |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,460,960 (GRCm39) |
|
probably null |
Het |
| Myh6 |
T |
C |
14: 55,187,864 (GRCm39) |
K1197E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,892,907 (GRCm39) |
T6780A |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,932,953 (GRCm39) |
V4808M |
probably damaging |
Het |
| Or6c210 |
A |
G |
10: 129,495,803 (GRCm39) |
I43V |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,307 (GRCm39) |
D3082G |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,604,943 (GRCm39) |
M1645V |
probably benign |
Het |
| Ppip5k1 |
A |
G |
2: 121,168,380 (GRCm39) |
V674A |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,096,485 (GRCm39) |
S619T |
probably benign |
Het |
| Rab44 |
A |
T |
17: 29,367,212 (GRCm39) |
H714L |
probably benign |
Het |
| Rybp |
A |
G |
6: 100,210,151 (GRCm39) |
Y70H |
possibly damaging |
Het |
| Sfrp1 |
A |
G |
8: 23,936,260 (GRCm39) |
K234R |
possibly damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,607,795 (GRCm39) |
N481S |
probably damaging |
Het |
| Slc44a3 |
T |
G |
3: 121,320,849 (GRCm39) |
I51L |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,149,004 (GRCm39) |
F569S |
possibly damaging |
Het |
| Smurf2 |
A |
T |
11: 106,726,974 (GRCm39) |
N451K |
probably damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,788,247 (GRCm39) |
D1075E |
probably damaging |
Het |
| Syngap1 |
A |
T |
17: 27,177,192 (GRCm39) |
H65L |
probably benign |
Het |
| Tdrd12 |
T |
C |
7: 35,228,689 (GRCm39) |
D11G |
probably damaging |
Het |
| Tex2 |
C |
T |
11: 106,410,739 (GRCm39) |
A926T |
unknown |
Het |
| Tm7sf2 |
A |
G |
19: 6,113,914 (GRCm39) |
F209S |
probably damaging |
Het |
| Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
| Virma |
T |
A |
4: 11,514,036 (GRCm39) |
L630H |
probably damaging |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,747 (GRCm39) |
I117T |
possibly damaging |
Het |
| Zan |
C |
A |
5: 137,454,917 (GRCm39) |
R1373L |
unknown |
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 |
|
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'- ATGAAATTCTGGTTTCTCTCAGGG -3'
(R):5'- GCCCTTCATGCTCATAAAAGAC -3'
Sequencing Primer
(F):5'- TGAAGAGTTAGACACACTTGCCCTG -3'
(R):5'- ACAAATTGGAAGGTACAGCTAAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation