Incidental Mutation 'R4509:Adam4'
ID |
331132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam4
|
Ensembl Gene |
ENSMUSG00000072972 |
Gene Name |
a disintegrin and metallopeptidase domain 4 |
Synonyms |
tMDCV |
MMRRC Submission |
041758-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R4509 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81466217-81468720 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 81468521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 33
(C33*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085319]
[ENSMUST00000110340]
[ENSMUST00000164386]
[ENSMUST00000166723]
|
AlphaFold |
Q8CGQ2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000085319
AA Change: C33*
|
SMART Domains |
Protein: ENSMUSP00000082427 Gene: ENSMUSG00000072972 AA Change: C33*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
46 |
163 |
9e-19 |
PFAM |
Pfam:Reprolysin
|
213 |
406 |
1.3e-16 |
PFAM |
DISIN
|
429 |
504 |
4.89e-37 |
SMART |
ACR
|
505 |
648 |
2.28e-57 |
SMART |
transmembrane domain
|
718 |
740 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110340
|
SMART Domains |
Protein: ENSMUSP00000105969 Gene: ENSMUSG00000091803
Domain | Start | End | E-Value | Type |
Pfam:COX16
|
16 |
74 |
6.6e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164386
|
SMART Domains |
Protein: ENSMUSP00000132941 Gene: ENSMUSG00000021139
Domain | Start | End | E-Value | Type |
PDZ
|
21 |
100 |
6.16e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166723
|
SMART Domains |
Protein: ENSMUSP00000130935 Gene: ENSMUSG00000091803
Domain | Start | End | E-Value | Type |
Pfam:COX16
|
16 |
73 |
6.9e-16 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,857,581 (GRCm39) |
L657P |
probably damaging |
Het |
Adam6b |
T |
C |
12: 113,453,972 (GRCm39) |
V263A |
probably benign |
Het |
Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,718,339 (GRCm39) |
F2011L |
probably benign |
Het |
Atp5pf |
T |
C |
16: 84,624,862 (GRCm39) |
D104G |
probably benign |
Het |
Cacna1d |
T |
C |
14: 29,818,928 (GRCm39) |
Y1209C |
probably damaging |
Het |
Camta2 |
G |
A |
11: 70,571,844 (GRCm39) |
T484M |
probably benign |
Het |
Ccdc178 |
T |
C |
18: 22,200,449 (GRCm39) |
N452D |
possibly damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cttnbp2nl |
T |
C |
3: 104,940,063 (GRCm39) |
N2S |
probably damaging |
Het |
Gm15032 |
A |
T |
X: 141,405,622 (GRCm39) |
|
noncoding transcript |
Het |
Gzmg |
G |
A |
14: 56,394,210 (GRCm39) |
P228L |
probably damaging |
Het |
Hao1 |
T |
A |
2: 134,364,964 (GRCm39) |
D221V |
probably damaging |
Het |
Ints9 |
A |
G |
14: 65,266,381 (GRCm39) |
D411G |
possibly damaging |
Het |
Lnx1 |
C |
T |
5: 74,780,853 (GRCm39) |
D382N |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,715,883 (GRCm39) |
R2022C |
probably damaging |
Het |
Mipep |
T |
C |
14: 61,064,770 (GRCm39) |
Y375H |
probably damaging |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Pah |
T |
C |
10: 87,412,077 (GRCm39) |
|
probably null |
Het |
Perm1 |
T |
C |
4: 156,302,043 (GRCm39) |
S196P |
probably benign |
Het |
Pik3c2g |
A |
T |
6: 139,665,732 (GRCm39) |
T18S |
probably benign |
Het |
Polq |
G |
A |
16: 36,868,925 (GRCm39) |
R765H |
probably damaging |
Het |
Ppp3cb |
A |
T |
14: 20,565,569 (GRCm39) |
|
probably benign |
Het |
Psd4 |
T |
C |
2: 24,286,347 (GRCm39) |
S316P |
probably benign |
Het |
Ptpn18 |
T |
C |
1: 34,501,823 (GRCm39) |
V45A |
possibly damaging |
Het |
Rasgrp3 |
A |
G |
17: 75,807,668 (GRCm39) |
M242V |
probably damaging |
Het |
Repin1 |
T |
C |
6: 48,573,460 (GRCm39) |
C130R |
possibly damaging |
Het |
Rrp1 |
G |
T |
10: 78,248,656 (GRCm39) |
T44K |
possibly damaging |
Het |
Slc44a5 |
A |
G |
3: 153,939,710 (GRCm39) |
Y88C |
probably damaging |
Het |
Socs1 |
C |
T |
16: 10,602,218 (GRCm39) |
R173Q |
probably benign |
Het |
Speer3 |
T |
G |
5: 13,846,368 (GRCm39) |
N229K |
possibly damaging |
Het |
Sult2a7 |
T |
A |
7: 14,204,086 (GRCm39) |
I226F |
probably damaging |
Het |
Tdp1 |
G |
A |
12: 99,921,324 (GRCm39) |
|
probably benign |
Het |
Tnfrsf21 |
G |
A |
17: 43,396,279 (GRCm39) |
S521N |
probably benign |
Het |
Tnip1 |
T |
A |
11: 54,817,616 (GRCm39) |
S244C |
probably benign |
Het |
Ubqln3 |
G |
A |
7: 103,790,651 (GRCm39) |
L480F |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,789,172 (GRCm39) |
P3817L |
probably damaging |
Het |
Xpr1 |
A |
G |
1: 155,165,907 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,520,411 (GRCm39) |
E511G |
probably benign |
Het |
Zfp560 |
C |
T |
9: 20,260,019 (GRCm39) |
C281Y |
probably damaging |
Het |
|
Other mutations in Adam4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00972:Adam4
|
APN |
12 |
81,467,423 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01133:Adam4
|
APN |
12 |
81,468,220 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01636:Adam4
|
APN |
12 |
81,466,723 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02133:Adam4
|
APN |
12 |
81,466,803 (GRCm39) |
missense |
probably benign |
0.37 |
IGL02137:Adam4
|
APN |
12 |
81,467,877 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02425:Adam4
|
APN |
12 |
81,468,102 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02686:Adam4
|
APN |
12 |
81,468,448 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0554:Adam4
|
UTSW |
12 |
81,468,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R0684:Adam4
|
UTSW |
12 |
81,466,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R1519:Adam4
|
UTSW |
12 |
81,467,651 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1636:Adam4
|
UTSW |
12 |
81,466,464 (GRCm39) |
missense |
probably damaging |
0.98 |
R1795:Adam4
|
UTSW |
12 |
81,468,068 (GRCm39) |
missense |
probably benign |
0.03 |
R1835:Adam4
|
UTSW |
12 |
81,466,333 (GRCm39) |
missense |
probably benign |
0.00 |
R2158:Adam4
|
UTSW |
12 |
81,468,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R2393:Adam4
|
UTSW |
12 |
81,467,485 (GRCm39) |
missense |
probably benign |
0.02 |
R2923:Adam4
|
UTSW |
12 |
81,467,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R3411:Adam4
|
UTSW |
12 |
81,466,596 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4159:Adam4
|
UTSW |
12 |
81,466,806 (GRCm39) |
missense |
probably damaging |
0.99 |
R4673:Adam4
|
UTSW |
12 |
81,468,535 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4794:Adam4
|
UTSW |
12 |
81,468,198 (GRCm39) |
missense |
probably damaging |
0.99 |
R5564:Adam4
|
UTSW |
12 |
81,466,348 (GRCm39) |
missense |
probably benign |
0.00 |
R5774:Adam4
|
UTSW |
12 |
81,467,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R6054:Adam4
|
UTSW |
12 |
81,466,828 (GRCm39) |
missense |
probably damaging |
0.99 |
R6722:Adam4
|
UTSW |
12 |
81,468,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R6857:Adam4
|
UTSW |
12 |
81,466,723 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7316:Adam4
|
UTSW |
12 |
81,466,498 (GRCm39) |
missense |
probably benign |
0.08 |
R7393:Adam4
|
UTSW |
12 |
81,466,434 (GRCm39) |
missense |
probably benign |
0.01 |
R7649:Adam4
|
UTSW |
12 |
81,467,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R8245:Adam4
|
UTSW |
12 |
81,466,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R8293:Adam4
|
UTSW |
12 |
81,467,185 (GRCm39) |
nonsense |
probably null |
|
R8729:Adam4
|
UTSW |
12 |
81,468,176 (GRCm39) |
nonsense |
probably null |
|
R8954:Adam4
|
UTSW |
12 |
81,467,146 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9170:Adam4
|
UTSW |
12 |
81,466,516 (GRCm39) |
missense |
probably benign |
0.00 |
R9360:Adam4
|
UTSW |
12 |
81,468,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R9433:Adam4
|
UTSW |
12 |
81,466,723 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9452:Adam4
|
UTSW |
12 |
81,467,071 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGCTCCTTGGTCATTAGAG -3'
(R):5'- ACTTAGCAGAGGTTGTAAGCCTC -3'
Sequencing Primer
(F):5'- GCTCCTTGGTCATTAGAGGTATATAC -3'
(R):5'- CAGAGGTTGTAAGCCTCTTGCC -3'
|
Posted On |
2015-07-21 |