Incidental Mutation 'R4159:Adam4'
ID |
315668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam4
|
Ensembl Gene |
ENSMUSG00000072972 |
Gene Name |
a disintegrin and metallopeptidase domain 4 |
Synonyms |
tMDCV |
MMRRC Submission |
041002-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R4159 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81466217-81468720 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 81466806 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 605
(D605A)
|
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: D605A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000082427 Gene: ENSMUSG00000072972 AA Change: D605A
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
96% (45/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
A |
G |
11: 7,013,889 (GRCm39) |
H97R |
probably damaging |
Het |
Amdhd1 |
A |
G |
10: 93,370,512 (GRCm39) |
Y109H |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,722,593 (GRCm39) |
N372S |
possibly damaging |
Het |
Aoc2 |
G |
A |
11: 101,216,122 (GRCm39) |
M68I |
probably damaging |
Het |
Aspscr1 |
G |
A |
11: 120,599,502 (GRCm39) |
A377T |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 36,985,232 (GRCm39) |
M854K |
probably benign |
Het |
Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
Cacnb1 |
G |
C |
11: 97,903,100 (GRCm39) |
C154W |
probably damaging |
Het |
Ccdc186 |
G |
A |
19: 56,781,924 (GRCm39) |
R27* |
probably null |
Het |
Clnk |
C |
A |
5: 38,899,138 (GRCm39) |
|
probably benign |
Het |
Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
Fut8 |
T |
C |
12: 77,440,523 (GRCm39) |
L170P |
probably damaging |
Het |
G3bp2 |
T |
C |
5: 92,212,260 (GRCm39) |
H217R |
probably benign |
Het |
Gm19345 |
G |
A |
7: 19,588,886 (GRCm39) |
|
probably benign |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Kcne4 |
A |
G |
1: 78,795,819 (GRCm39) |
N156D |
probably benign |
Het |
Met |
G |
T |
6: 17,562,271 (GRCm39) |
|
probably null |
Het |
Mfsd3 |
T |
C |
15: 76,585,945 (GRCm39) |
L26P |
probably damaging |
Het |
Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
Pde8a |
A |
G |
7: 80,970,407 (GRCm39) |
I510V |
probably benign |
Het |
Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
Phkb |
T |
A |
8: 86,748,162 (GRCm39) |
|
probably null |
Het |
Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
Slc15a5 |
G |
T |
6: 138,049,938 (GRCm39) |
T159K |
possibly damaging |
Het |
Slc39a6 |
A |
G |
18: 24,730,885 (GRCm39) |
V362A |
possibly damaging |
Het |
Spef2 |
A |
T |
15: 9,676,407 (GRCm39) |
D721E |
probably damaging |
Het |
Sting1 |
A |
T |
18: 35,872,272 (GRCm39) |
Y77N |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
Ttll8 |
T |
C |
15: 88,801,444 (GRCm39) |
N415D |
probably benign |
Het |
Ube2d2a |
A |
T |
18: 35,903,577 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 103,036,512 (GRCm39) |
|
probably benign |
Het |
Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,898,088 (GRCm39) |
C368S |
probably damaging |
Het |
Vmn2r3 |
G |
A |
3: 64,194,850 (GRCm39) |
Q23* |
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 |
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 |
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'- CGAACACAGTGACAGTTGCC -3'
(R):5'- GGTTCACCAGCATGCTATAATG -3'
Sequencing Primer
(F):5'- AACACAGTGACAGTTGCCTTTGTTG -3'
(R):5'- CTGTCCCATGTCAAAAGG -3'
|
Posted On |
2015-05-14 |