Incidental Mutation 'R2923:Adam4'
| ID |
255635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam4
|
| Ensembl Gene |
ENSMUSG00000072972 |
| Gene Name |
a disintegrin and metallopeptidase domain 4 |
| Synonyms |
tMDCV |
| MMRRC Submission |
040508-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R2923 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81466217-81468720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81467518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 368
(C368S)
|
| 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: C368S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082427
Gene: ENSMUSG00000072972
AA Change: C368S
| 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: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 90,009,393 (GRCm39) |
D90G |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,832,010 (GRCm39) |
Y500C |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,612,079 (GRCm39) |
T418S |
probably benign |
Het |
| Atp6v0a2 |
C |
T |
5: 124,794,981 (GRCm39) |
T656M |
possibly damaging |
Het |
| Camsap2 |
G |
A |
1: 136,208,547 (GRCm39) |
P971S |
possibly damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,960,307 (GRCm39) |
H170R |
probably benign |
Het |
| Ccn5 |
G |
A |
2: 163,674,266 (GRCm39) |
R222Q |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,795,303 (GRCm39) |
D732G |
possibly damaging |
Het |
| Clpb |
A |
G |
7: 101,372,035 (GRCm39) |
D257G |
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,493,473 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
G |
A |
2: 104,085,660 (GRCm39) |
T164I |
possibly damaging |
Het |
| Dhx40 |
T |
G |
11: 86,680,089 (GRCm39) |
Q416P |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,984,373 (GRCm39) |
F1636S |
probably damaging |
Het |
| Fhl3 |
T |
C |
4: 124,599,463 (GRCm39) |
S13P |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,578,875 (GRCm39) |
I1249N |
probably damaging |
Het |
| Gm10604 |
C |
T |
4: 11,980,122 (GRCm39) |
A61T |
unknown |
Het |
| Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,388,411 (GRCm39) |
S1844R |
possibly damaging |
Het |
| Grm6 |
G |
C |
11: 50,755,348 (GRCm39) |
G827R |
probably damaging |
Het |
| Grm7 |
T |
A |
6: 111,472,866 (GRCm39) |
|
probably null |
Het |
| Hdc |
G |
A |
2: 126,435,910 (GRCm39) |
P654S |
probably damaging |
Het |
| Hoxb1 |
T |
C |
11: 96,257,119 (GRCm39) |
L156P |
probably benign |
Het |
| Ipo9 |
G |
T |
1: 135,327,867 (GRCm39) |
Q515K |
probably benign |
Het |
| Kcnk3 |
T |
C |
5: 30,779,414 (GRCm39) |
S155P |
probably damaging |
Het |
| Mboat2 |
T |
A |
12: 25,004,239 (GRCm39) |
W347R |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,760,831 (GRCm39) |
Q374* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,132,855 (GRCm39) |
F44S |
probably damaging |
Het |
| Nipal3 |
A |
T |
4: 135,204,776 (GRCm39) |
I125N |
probably damaging |
Het |
| Or4c113 |
A |
G |
2: 88,884,843 (GRCm39) |
V309A |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,794 (GRCm39) |
V148A |
probably benign |
Het |
| Ovch2 |
A |
G |
7: 107,389,596 (GRCm39) |
L317P |
possibly damaging |
Het |
| Pnpla2 |
T |
A |
7: 141,035,380 (GRCm39) |
C61S |
probably benign |
Het |
| Ppp1r16b |
G |
T |
2: 158,598,877 (GRCm39) |
L312F |
probably damaging |
Het |
| Rdm1 |
T |
A |
11: 101,521,716 (GRCm39) |
L157H |
possibly damaging |
Het |
| Rpl22 |
C |
A |
4: 152,412,002 (GRCm39) |
T26N |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,306,015 (GRCm39) |
Y1116C |
possibly damaging |
Het |
| Serpinb5 |
G |
A |
1: 106,803,770 (GRCm39) |
S152N |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| St8sia1 |
A |
T |
6: 142,774,963 (GRCm39) |
F205L |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,697,325 (GRCm39) |
Y1988H |
probably damaging |
Het |
| Susd3 |
A |
T |
13: 49,401,945 (GRCm39) |
M1K |
probably null |
Het |
| Syne3 |
A |
T |
12: 104,934,343 (GRCm39) |
L55Q |
probably damaging |
Het |
| Tmx1 |
T |
A |
12: 70,512,895 (GRCm39) |
C268S |
probably benign |
Het |
| Ttll1 |
T |
C |
15: 83,376,760 (GRCm39) |
K321R |
probably damaging |
Het |
| Zdhhc18 |
G |
T |
4: 133,360,455 (GRCm39) |
H82Q |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,077 (GRCm39) |
I390V |
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 |
|
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 |
|
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'- AGTCACATTTCTCACTGGCC -3'
(R):5'- GCACGATTTGTATGCCACTACAG -3'
Sequencing Primer
(F):5'- ACTCTCTTATTTCCACAACGAGG -3'
(R):5'- GATTTGTATGCCACTACAGCTATTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation