Incidental Mutation 'R0667:Mep1a'
ID |
218562 |
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 |
038852-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0667 (G1)
|
Quality Score |
50 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
43785215-43813703 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 43789081 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 565
(D565A)
|
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: D578A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000024707 Gene: ENSMUSG00000023914 AA Change: D578A
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: D565A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000113838 Gene: ENSMUSG00000023914 AA Change: D565A
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 |
0.2437 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
98% (64/65) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
G |
T |
11: 110,218,637 (GRCm39) |
N76K |
probably benign |
Het |
Adamts12 |
C |
T |
15: 11,215,710 (GRCm39) |
R244C |
probably damaging |
Het |
Atad2 |
A |
G |
15: 57,962,115 (GRCm39) |
S1143P |
probably benign |
Het |
Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
Cand1 |
A |
G |
10: 119,052,425 (GRCm39) |
S234P |
probably benign |
Het |
Cd200 |
T |
A |
16: 45,215,220 (GRCm39) |
I144L |
probably benign |
Het |
Cep76 |
A |
T |
18: 67,767,848 (GRCm39) |
L228Q |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,535,744 (GRCm39) |
L2584S |
probably damaging |
Het |
Col6a3 |
A |
C |
1: 90,755,823 (GRCm39) |
D155E |
probably damaging |
Het |
Col6a4 |
G |
A |
9: 105,907,158 (GRCm39) |
|
probably benign |
Het |
Dsg2 |
A |
C |
18: 20,706,556 (GRCm39) |
D24A |
possibly damaging |
Het |
Gm5901 |
G |
A |
7: 105,026,697 (GRCm39) |
S155N |
possibly damaging |
Het |
Hkdc1 |
T |
C |
10: 62,247,644 (GRCm39) |
|
probably benign |
Het |
Kansl1 |
A |
G |
11: 104,234,364 (GRCm39) |
V714A |
probably benign |
Het |
Kcnh1 |
T |
A |
1: 192,188,346 (GRCm39) |
S936T |
probably benign |
Het |
Klhdc3 |
A |
T |
17: 46,988,151 (GRCm39) |
F205I |
probably benign |
Het |
Krt31 |
T |
A |
11: 99,938,951 (GRCm39) |
H290L |
probably benign |
Het |
Lama2 |
T |
A |
10: 27,220,406 (GRCm39) |
|
probably null |
Het |
Mgme1 |
T |
A |
2: 144,120,907 (GRCm39) |
|
probably benign |
Het |
Mtf2 |
C |
T |
5: 108,252,369 (GRCm39) |
T409I |
probably damaging |
Het |
Mylk3 |
A |
G |
8: 86,081,794 (GRCm39) |
|
probably null |
Het |
Myo1c |
A |
G |
11: 75,559,338 (GRCm39) |
E650G |
probably damaging |
Het |
Nipbl |
A |
C |
15: 8,390,488 (GRCm39) |
D260E |
possibly damaging |
Het |
Nufip2 |
T |
A |
11: 77,582,839 (GRCm39) |
V251D |
possibly damaging |
Het |
Or2n1e |
C |
A |
17: 38,586,048 (GRCm39) |
P129T |
probably damaging |
Het |
Or4a2 |
T |
C |
2: 89,248,032 (GRCm39) |
I242V |
probably benign |
Het |
Or7g35 |
T |
A |
9: 19,496,743 (GRCm39) |
N303K |
probably benign |
Het |
Osm |
G |
T |
11: 4,189,918 (GRCm39) |
R234L |
possibly damaging |
Het |
Pabpc1 |
G |
A |
15: 36,598,275 (GRCm39) |
A515V |
probably benign |
Het |
Piwil1 |
T |
A |
5: 128,818,542 (GRCm39) |
|
probably null |
Het |
Pld1 |
A |
G |
3: 28,133,327 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
C |
T |
12: 76,623,372 (GRCm39) |
R871C |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,749,555 (GRCm39) |
Y1147F |
probably damaging |
Het |
Prmt3 |
A |
G |
7: 49,441,743 (GRCm39) |
Y240C |
probably damaging |
Het |
Prr36 |
G |
T |
8: 4,266,311 (GRCm39) |
|
probably benign |
Het |
Ptprd |
A |
G |
4: 75,875,583 (GRCm39) |
I908T |
probably damaging |
Het |
Sae1 |
A |
T |
7: 16,102,457 (GRCm39) |
N172K |
probably damaging |
Het |
Satb1 |
T |
G |
17: 52,089,889 (GRCm39) |
Q319H |
probably damaging |
Het |
Scart2 |
C |
G |
7: 139,841,450 (GRCm39) |
S251R |
possibly damaging |
Het |
Scn2a |
A |
T |
2: 65,582,340 (GRCm39) |
I1563F |
possibly damaging |
Het |
Scn3a |
C |
A |
2: 65,314,755 (GRCm39) |
R1102L |
probably null |
Het |
Serpinb9b |
T |
A |
13: 33,216,909 (GRCm39) |
L60* |
probably null |
Het |
Setd1a |
A |
G |
7: 127,385,765 (GRCm39) |
D281G |
probably damaging |
Het |
Slc8a1 |
C |
A |
17: 81,956,310 (GRCm39) |
V243F |
probably damaging |
Het |
Tgfbr3 |
A |
T |
5: 107,325,716 (GRCm39) |
H115Q |
probably benign |
Het |
Tiam1 |
C |
A |
16: 89,694,872 (GRCm39) |
S195I |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,086,113 (GRCm39) |
V803A |
probably benign |
Het |
Ttc5 |
T |
A |
14: 51,003,415 (GRCm39) |
Q423L |
probably benign |
Het |
Tyk2 |
A |
C |
9: 21,020,167 (GRCm39) |
V997G |
probably damaging |
Het |
Uhrf1 |
T |
C |
17: 56,617,677 (GRCm39) |
V133A |
probably benign |
Het |
Vmn2r107 |
A |
C |
17: 20,575,916 (GRCm39) |
Y82S |
possibly damaging |
Het |
Vmn2r93 |
T |
C |
17: 18,546,503 (GRCm39) |
F792L |
probably damaging |
Het |
Vps13c |
G |
A |
9: 67,858,855 (GRCm39) |
W2768* |
probably null |
Het |
Zfp456 |
A |
T |
13: 67,514,861 (GRCm39) |
C282S |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,916,561 (GRCm39) |
N562D |
possibly damaging |
Het |
Zmynd15 |
G |
T |
11: 70,355,944 (GRCm39) |
G481C |
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 |
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 |
|
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'- TGCAAATCAATAGACCAGTCAGAGCCT -3'
(R):5'- GTGCATAGCAGTGACACAGTGATATGA -3'
Sequencing Primer
(F):5'- GTCAGAGCCTAAGATTATTGACCCAG -3'
(R):5'- agagagagagagagagagagaaag -3'
|
Posted On |
2014-08-18 |