Incidental Mutation 'R6722:Adam4'
ID |
529653 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam4
|
Ensembl Gene |
ENSMUSG00000072972 |
Gene Name |
a disintegrin and metallopeptidase domain 4 |
Synonyms |
tMDCV |
MMRRC Submission |
044840-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R6722 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81466217-81468720 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 81468228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 131
(D131A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085319]
[ENSMUST00000110340]
[ENSMUST00000164386]
[ENSMUST00000166723]
|
AlphaFold |
Q8CGQ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085319
AA Change: D131A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082427 Gene: ENSMUSG00000072972 AA Change: D131A
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 |
0.6329 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
T |
C |
10: 69,826,074 (GRCm39) |
|
probably benign |
Het |
Atp1a4 |
T |
C |
1: 172,085,617 (GRCm39) |
|
probably benign |
Het |
Bmal2 |
T |
A |
6: 146,720,398 (GRCm39) |
D187E |
probably damaging |
Het |
Castor2 |
T |
C |
5: 134,164,458 (GRCm39) |
S140P |
probably benign |
Het |
Ccdc162 |
T |
C |
10: 41,520,637 (GRCm39) |
N673S |
probably benign |
Het |
Cd84 |
G |
A |
1: 171,700,344 (GRCm39) |
V154M |
probably damaging |
Het |
Celsr1 |
C |
A |
15: 85,790,115 (GRCm39) |
|
probably null |
Het |
Cfap57 |
A |
C |
4: 118,441,914 (GRCm39) |
L718R |
probably damaging |
Het |
Cntnap5b |
G |
A |
1: 100,406,211 (GRCm39) |
V803M |
probably damaging |
Het |
Col6a2 |
C |
T |
10: 76,450,392 (GRCm39) |
V180I |
probably damaging |
Het |
Coq4 |
A |
T |
2: 29,678,297 (GRCm39) |
|
probably benign |
Het |
Cyp2a4 |
A |
G |
7: 26,012,983 (GRCm39) |
T389A |
probably benign |
Het |
Dennd1c |
T |
C |
17: 57,373,802 (GRCm39) |
D587G |
probably benign |
Het |
Dnaja4 |
A |
G |
9: 54,607,038 (GRCm39) |
D9G |
probably damaging |
Het |
Hes2 |
T |
G |
4: 152,244,834 (GRCm39) |
L101R |
probably damaging |
Het |
Icam2 |
A |
G |
11: 106,273,307 (GRCm39) |
S2P |
probably damaging |
Het |
Krt31 |
A |
G |
11: 99,939,254 (GRCm39) |
L221P |
probably damaging |
Het |
Lipm |
A |
T |
19: 34,098,665 (GRCm39) |
N380Y |
probably benign |
Het |
Lrp2bp |
G |
A |
8: 46,473,600 (GRCm39) |
|
probably null |
Het |
Mbd2 |
T |
A |
18: 70,713,819 (GRCm39) |
M216K |
probably damaging |
Het |
Mrps33 |
T |
C |
6: 39,782,599 (GRCm39) |
|
probably benign |
Het |
Nbeal2 |
T |
C |
9: 110,462,060 (GRCm39) |
D1459G |
probably damaging |
Het |
Ncapd3 |
T |
C |
9: 26,998,852 (GRCm39) |
S1281P |
probably benign |
Het |
Nt5c1b |
T |
A |
12: 10,422,874 (GRCm39) |
Y56N |
possibly damaging |
Het |
Nthl1 |
A |
G |
17: 24,853,008 (GRCm39) |
K71E |
probably benign |
Het |
Or4f62 |
T |
A |
2: 111,987,227 (GRCm39) |
N310K |
probably benign |
Het |
Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
Pde4a |
G |
A |
9: 21,122,521 (GRCm39) |
A806T |
probably damaging |
Het |
Pde4d |
C |
A |
13: 109,769,432 (GRCm39) |
S40* |
probably null |
Het |
Pde4dip |
G |
A |
3: 97,625,555 (GRCm39) |
R1348* |
probably null |
Het |
Pdx1 |
C |
T |
5: 147,207,310 (GRCm39) |
P88S |
probably damaging |
Het |
Pnisr |
T |
A |
4: 21,859,165 (GRCm39) |
V120D |
probably damaging |
Het |
Prss51 |
G |
T |
14: 64,332,508 (GRCm39) |
C65F |
probably damaging |
Het |
Pus10 |
G |
A |
11: 23,652,975 (GRCm39) |
E195K |
possibly damaging |
Het |
Pzp |
T |
A |
6: 128,464,917 (GRCm39) |
Q1319L |
probably damaging |
Het |
Rbpms |
G |
T |
8: 34,324,421 (GRCm39) |
T101K |
probably damaging |
Het |
Rundc3a |
A |
G |
11: 102,290,775 (GRCm39) |
N281S |
possibly damaging |
Het |
Scml4 |
C |
T |
10: 42,736,728 (GRCm39) |
|
probably benign |
Het |
Sez6 |
T |
C |
11: 77,844,528 (GRCm39) |
V117A |
probably damaging |
Het |
Sgsm2 |
A |
C |
11: 74,756,250 (GRCm39) |
C366W |
probably damaging |
Het |
Slc12a4 |
T |
C |
8: 106,670,882 (GRCm39) |
|
probably null |
Het |
Smg5 |
C |
T |
3: 88,260,332 (GRCm39) |
R641C |
probably damaging |
Het |
Stxbp3 |
A |
G |
3: 108,723,762 (GRCm39) |
Y150H |
probably benign |
Het |
Thoc2l |
T |
A |
5: 104,668,145 (GRCm39) |
M889K |
probably damaging |
Het |
Tkt |
T |
C |
14: 30,291,041 (GRCm39) |
F351S |
probably damaging |
Het |
Tln1 |
A |
G |
4: 43,547,618 (GRCm39) |
L781P |
probably damaging |
Het |
Triobp |
G |
A |
15: 78,885,765 (GRCm39) |
E1823K |
probably damaging |
Het |
Ttll4 |
T |
C |
1: 74,720,948 (GRCm39) |
V538A |
possibly damaging |
Het |
Uba52rt |
A |
G |
4: 3,973,386 (GRCm39) |
Y59H |
probably benign |
Het |
Vmn1r61 |
T |
A |
7: 5,613,687 (GRCm39) |
N209I |
possibly damaging |
Het |
Wdr75 |
T |
A |
1: 45,844,512 (GRCm39) |
|
probably null |
Het |
Zfp985 |
T |
C |
4: 147,667,528 (GRCm39) |
V132A |
probably benign |
Het |
Zswim3 |
T |
A |
2: 164,662,544 (GRCm39) |
|
probably null |
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 |
R4509:Adam4
|
UTSW |
12 |
81,468,521 (GRCm39) |
nonsense |
probably null |
|
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 |
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'- AGCCAGCTTGGTCTCTTCAG -3'
(R):5'- GCACATCACCTATAGCATGCG -3'
Sequencing Primer
(F):5'- TCAGAGAGGTCACCTGCCTTTG -3'
(R):5'- CATGCGCTTTAGGGGACAAAGAC -3'
|
Posted On |
2018-08-01 |