Incidental Mutation 'R3946:Mep1a'
| ID |
307733 |
| 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 |
040827-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3946 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
43785215-43813703 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 43785932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 719
(L719*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024707]
[ENSMUST00000117137]
|
| AlphaFold |
P28825 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024707
AA Change: L732*
|
| SMART Domains |
Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: L732*
| 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 null
Transcript: ENSMUST00000117137
AA Change: L719*
|
| SMART Domains |
Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: L719*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (60/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
A |
G |
1: 60,492,913 (GRCm39) |
Q328R |
probably damaging |
Het |
| Agr3 |
C |
A |
12: 35,997,512 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,460,169 (GRCm39) |
S481R |
probably damaging |
Het |
| Cabin1 |
T |
G |
10: 75,581,093 (GRCm39) |
Q411P |
probably damaging |
Het |
| Calr3 |
A |
G |
8: 73,197,464 (GRCm39) |
Y22H |
probably damaging |
Het |
| Caprin1 |
T |
A |
2: 103,627,111 (GRCm39) |
I59F |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,190,636 (GRCm39) |
T442A |
probably damaging |
Het |
| Chn2 |
T |
C |
6: 54,246,411 (GRCm39) |
|
probably benign |
Het |
| Cic |
C |
A |
7: 24,971,771 (GRCm39) |
R501S |
possibly damaging |
Het |
| Coch |
A |
G |
12: 51,648,595 (GRCm39) |
|
probably null |
Het |
| Defa25 |
G |
A |
8: 21,574,506 (GRCm39) |
V17I |
probably null |
Het |
| Dglucy |
T |
C |
12: 100,804,959 (GRCm39) |
|
probably null |
Het |
| Dtx1 |
T |
G |
5: 120,819,351 (GRCm39) |
T616P |
possibly damaging |
Het |
| Eef1g |
T |
C |
19: 8,947,341 (GRCm39) |
L171P |
probably benign |
Het |
| Fam135a |
A |
G |
1: 24,069,475 (GRCm39) |
S465P |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,006,478 (GRCm39) |
C472* |
probably null |
Het |
| Gm7104 |
T |
C |
12: 88,252,812 (GRCm39) |
|
noncoding transcript |
Het |
| Got2 |
A |
G |
8: 96,614,858 (GRCm39) |
S26P |
probably benign |
Het |
| H2-M11 |
A |
G |
17: 36,860,123 (GRCm39) |
I329M |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,272,406 (GRCm39) |
D1295E |
possibly damaging |
Het |
| Hoxd12 |
G |
T |
2: 74,505,771 (GRCm39) |
R114L |
probably damaging |
Het |
| Ilkap |
A |
C |
1: 91,314,972 (GRCm39) |
D124E |
probably damaging |
Het |
| Maco1 |
A |
G |
4: 134,531,792 (GRCm39) |
Y626H |
probably damaging |
Het |
| Med6 |
T |
C |
12: 81,628,625 (GRCm39) |
Y88C |
probably damaging |
Het |
| Mmp23 |
T |
C |
4: 155,736,480 (GRCm39) |
Y187C |
probably damaging |
Het |
| Myo1g |
A |
G |
11: 6,470,760 (GRCm39) |
M32T |
possibly damaging |
Het |
| Ncstn |
T |
C |
1: 171,895,061 (GRCm39) |
E614G |
probably benign |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Or4f15 |
G |
A |
2: 111,813,642 (GRCm39) |
T259M |
possibly damaging |
Het |
| Otub2 |
T |
A |
12: 103,359,085 (GRCm39) |
L58* |
probably null |
Het |
| Pcdhga12 |
G |
A |
18: 37,900,682 (GRCm39) |
V505I |
probably benign |
Het |
| Pcdhga9 |
T |
A |
18: 37,870,897 (GRCm39) |
V242D |
probably damaging |
Het |
| Pex1 |
C |
T |
5: 3,676,084 (GRCm39) |
L891F |
probably damaging |
Het |
| Pgm2 |
C |
T |
5: 64,269,404 (GRCm39) |
T497I |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,235,840 (GRCm39) |
F171L |
probably damaging |
Het |
| Pilrb1 |
T |
G |
5: 137,855,654 (GRCm39) |
K79T |
probably benign |
Het |
| Pin1 |
C |
T |
9: 20,566,660 (GRCm39) |
R21W |
probably damaging |
Het |
| Prxl2c |
T |
C |
13: 64,456,912 (GRCm39) |
I104V |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,522,253 (GRCm39) |
|
probably benign |
Het |
| Rad17 |
G |
A |
13: 100,759,371 (GRCm39) |
A552V |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,851,925 (GRCm39) |
T249A |
probably benign |
Het |
| Rtkn |
A |
T |
6: 83,112,957 (GRCm39) |
I10F |
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,456,797 (GRCm39) |
I103F |
possibly damaging |
Het |
| Sec23b |
A |
G |
2: 144,423,893 (GRCm39) |
H514R |
probably benign |
Het |
| Serbp1 |
T |
A |
6: 67,249,204 (GRCm39) |
D223E |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,154,607 (GRCm39) |
V260L |
probably benign |
Het |
| Slc22a23 |
A |
G |
13: 34,367,109 (GRCm39) |
I633T |
probably damaging |
Het |
| Stk19 |
A |
T |
17: 35,043,723 (GRCm39) |
|
probably benign |
Het |
| Svs5 |
T |
C |
2: 164,079,047 (GRCm39) |
M287V |
probably benign |
Het |
| Syne3 |
T |
A |
12: 104,924,325 (GRCm39) |
Q358L |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,806,984 (GRCm39) |
F58L |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,545,872 (GRCm39) |
V198A |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,574,752 (GRCm39) |
Y9N |
probably damaging |
Het |
| Tmx3 |
G |
A |
18: 90,542,459 (GRCm39) |
A186T |
possibly damaging |
Het |
| Traf3 |
G |
A |
12: 111,221,679 (GRCm39) |
S280N |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,375,167 (GRCm39) |
F447S |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,059,107 (GRCm39) |
H918L |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,460,701 (GRCm39) |
V2654G |
probably benign |
Het |
| Vinac1 |
A |
G |
2: 128,881,521 (GRCm39) |
L135P |
probably damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,817,057 (GRCm39) |
Y175H |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,734,109 (GRCm39) |
D1330G |
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 |
|
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'- GGCCCTCTCAACATGTTTGATG -3'
(R):5'- GTGGCCACATGAATTGATACG -3'
Sequencing Primer
(F):5'- GTTTGATGAAAACTACCCCCAGAGTG -3'
(R):5'- TTGATACGTGTAAAGCCCATGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation