Incidental Mutation 'R5085:Mep1a'
| ID |
387403 |
| 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 |
042674-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5085 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
43785215-43813703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 43789035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 580
(R580S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024707]
[ENSMUST00000117137]
|
| AlphaFold |
P28825 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024707
AA Change: R593S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: R593S
| 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 damaging
Transcript: ENSMUST00000117137
AA Change: R580S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: R580S
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
92% (69/75) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,653,837 (GRCm39) |
K129* |
probably null |
Het |
| Adamts6 |
A |
T |
13: 104,443,751 (GRCm39) |
D162V |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,597,714 (GRCm39) |
P1316T |
possibly damaging |
Het |
| AU040320 |
A |
T |
4: 126,722,664 (GRCm39) |
N394I |
possibly damaging |
Het |
| Cacng8 |
T |
C |
7: 3,464,096 (GRCm39) |
L416P |
possibly damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,419,313 (GRCm39) |
N944K |
probably damaging |
Het |
| Clcn1 |
C |
T |
6: 42,290,814 (GRCm39) |
T896I |
probably benign |
Het |
| Col16a1 |
A |
T |
4: 129,947,964 (GRCm39) |
Y228F |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,548,083 (GRCm39) |
D561G |
probably benign |
Het |
| Ddr1 |
T |
A |
17: 35,993,667 (GRCm39) |
|
probably null |
Het |
| Dedd2 |
A |
T |
7: 24,918,411 (GRCm39) |
L48Q |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dph3b-ps |
A |
G |
13: 106,683,558 (GRCm39) |
|
noncoding transcript |
Het |
| Dppa3 |
T |
C |
6: 122,606,891 (GRCm39) |
F127S |
probably damaging |
Het |
| Dpy19l4 |
C |
T |
4: 11,265,943 (GRCm39) |
|
probably null |
Het |
| Flrt3 |
T |
C |
2: 140,502,177 (GRCm39) |
T484A |
probably damaging |
Het |
| Gldc |
T |
C |
19: 30,128,936 (GRCm39) |
E179G |
probably damaging |
Het |
| Gm14403 |
A |
G |
2: 177,200,282 (GRCm39) |
E76G |
probably benign |
Het |
| Gm6421 |
G |
A |
13: 117,494,969 (GRCm39) |
|
noncoding transcript |
Het |
| Grk5 |
T |
C |
19: 61,065,122 (GRCm39) |
V262A |
probably damaging |
Het |
| Grp |
A |
G |
18: 66,013,230 (GRCm39) |
Q132R |
probably benign |
Het |
| Hap1 |
A |
G |
11: 100,246,537 (GRCm39) |
F123L |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,986,445 (GRCm39) |
D532G |
probably damaging |
Het |
| Igsf9b |
C |
A |
9: 27,228,733 (GRCm39) |
F164L |
probably benign |
Het |
| Irag1 |
G |
T |
7: 110,470,700 (GRCm39) |
L672I |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kansl1 |
C |
T |
11: 104,315,168 (GRCm39) |
R290Q |
probably damaging |
Het |
| Kifc2 |
T |
A |
15: 76,545,496 (GRCm39) |
L81Q |
probably damaging |
Het |
| Klrc3 |
T |
C |
6: 129,616,538 (GRCm39) |
R160G |
probably damaging |
Het |
| Mal |
A |
G |
2: 127,482,193 (GRCm39) |
M70T |
probably benign |
Het |
| Methig1 |
A |
T |
15: 100,251,130 (GRCm39) |
I14F |
probably damaging |
Het |
| Mtf1 |
T |
C |
4: 124,715,101 (GRCm39) |
L242P |
probably damaging |
Het |
| Nfkb1 |
C |
A |
3: 135,309,568 (GRCm39) |
A509S |
probably benign |
Het |
| Or2h2b-ps1 |
C |
G |
17: 37,480,858 (GRCm39) |
S227T |
probably benign |
Het |
| Or2n1b |
G |
A |
17: 38,460,003 (GRCm39) |
D175N |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,449 (GRCm39) |
I205K |
probably damaging |
Het |
| Or7a36 |
G |
T |
10: 78,819,928 (GRCm39) |
M101I |
probably benign |
Het |
| Or8k23 |
A |
T |
2: 86,186,318 (GRCm39) |
M136K |
probably damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,907,635 (GRCm39) |
N300I |
probably damaging |
Het |
| Peg10 |
C |
T |
6: 4,755,864 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
T |
A |
6: 14,719,603 (GRCm39) |
D437V |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,398,783 (GRCm39) |
S682P |
probably damaging |
Het |
| Prkab2 |
T |
C |
3: 97,580,308 (GRCm39) |
|
probably benign |
Het |
| Pus3 |
T |
A |
9: 35,476,932 (GRCm39) |
L243Q |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,605,905 (GRCm39) |
S182G |
probably damaging |
Het |
| Rgs19 |
G |
A |
2: 181,331,336 (GRCm39) |
T99M |
possibly damaging |
Het |
| Ripk2 |
A |
G |
4: 16,127,663 (GRCm39) |
S360P |
possibly damaging |
Het |
| Rock1 |
A |
G |
18: 10,140,210 (GRCm39) |
I127T |
probably damaging |
Het |
| Serpinb10 |
T |
G |
1: 107,469,947 (GRCm39) |
M143R |
probably damaging |
Het |
| Sipa1l3 |
G |
A |
7: 29,048,000 (GRCm39) |
S247F |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 113,093,465 (GRCm39) |
Q226L |
probably damaging |
Het |
| Slc6a19 |
T |
C |
13: 73,839,872 (GRCm39) |
M137V |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,271,291 (GRCm39) |
N415K |
probably benign |
Het |
| Tekt4 |
A |
G |
17: 25,692,749 (GRCm39) |
R192G |
probably damaging |
Het |
| Trgv7 |
A |
T |
13: 19,362,598 (GRCm39) |
K96* |
probably null |
Het |
| Tshz1 |
T |
C |
18: 84,032,053 (GRCm39) |
N785S |
probably benign |
Het |
| Usb1 |
A |
G |
8: 96,070,679 (GRCm39) |
T202A |
probably damaging |
Het |
| Utp18 |
A |
T |
11: 93,761,363 (GRCm39) |
D348E |
possibly damaging |
Het |
| Vmn1r42 |
T |
G |
6: 89,821,598 (GRCm39) |
I324L |
probably benign |
Het |
| Wnt8a |
A |
T |
18: 34,678,656 (GRCm39) |
R157* |
probably null |
Het |
| Ypel1 |
A |
G |
16: 16,902,472 (GRCm39) |
|
probably null |
Het |
| Zfp235 |
A |
G |
7: 23,836,546 (GRCm39) |
K31E |
probably damaging |
Het |
| Zhx2 |
G |
C |
15: 57,686,089 (GRCm39) |
W486S |
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 |
|
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'- TGAAATTCTGGTTTCTCTCAGGGAG -3'
(R):5'- TTGGAAGGTACAGCTAACAAGATTG -3'
Sequencing Primer
(F):5'- TGAAGAGTTAGACACACTTGCCCTG -3'
(R):5'- GGTACAGCTAACAAGATTGTATGCCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation