Incidental Mutation 'R0684:Adam4'
ID |
61083 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam4
|
Ensembl Gene |
ENSMUSG00000072972 |
Gene Name |
a disintegrin and metallopeptidase domain 4 |
Synonyms |
tMDCV |
MMRRC Submission |
038869-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R0684 (G1)
|
Quality Score |
111 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81466217-81468720 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 81466428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 731
(L731H)
|
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: L731H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000082427 Gene: ENSMUSG00000072972 AA Change: L731H
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: 98.4%
- 10x: 96.1%
- 20x: 88.8%
|
Validation Efficiency |
100% (69/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adora2b |
C |
T |
11: 62,139,995 (GRCm39) |
A23V |
probably benign |
Het |
Ankrd17 |
T |
C |
5: 90,411,857 (GRCm39) |
I1336V |
probably damaging |
Het |
Asxl1 |
G |
A |
2: 153,239,442 (GRCm39) |
R410H |
probably damaging |
Het |
Atp8a2 |
T |
C |
14: 60,260,593 (GRCm39) |
E419G |
probably benign |
Het |
Atxn1l |
A |
T |
8: 110,459,016 (GRCm39) |
N415K |
probably damaging |
Het |
Bcl2l12 |
T |
A |
7: 44,646,025 (GRCm39) |
T65S |
probably benign |
Het |
Bdh2 |
A |
G |
3: 134,996,774 (GRCm39) |
I90V |
probably benign |
Het |
Bsph1 |
T |
A |
7: 13,206,988 (GRCm39) |
N121K |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,938,153 (GRCm39) |
Y104C |
possibly damaging |
Het |
Chdh |
T |
C |
14: 29,753,570 (GRCm39) |
W160R |
probably damaging |
Het |
Clock |
A |
G |
5: 76,393,365 (GRCm39) |
F193L |
probably damaging |
Het |
Copz1 |
A |
G |
15: 103,204,958 (GRCm39) |
|
probably null |
Het |
Cyp2c38 |
T |
C |
19: 39,379,500 (GRCm39) |
T450A |
probably damaging |
Het |
Cyp2d34 |
A |
T |
15: 82,501,751 (GRCm39) |
I253K |
probably benign |
Het |
Dhrs13 |
G |
T |
11: 77,927,789 (GRCm39) |
A212S |
probably damaging |
Het |
Ecsit |
T |
C |
9: 21,987,796 (GRCm39) |
N81S |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,301,094 (GRCm39) |
T33A |
probably damaging |
Het |
Emid1 |
T |
C |
11: 5,093,866 (GRCm39) |
R92G |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,609,941 (GRCm39) |
|
probably benign |
Het |
Fn1 |
A |
T |
1: 71,634,968 (GRCm39) |
|
probably null |
Het |
Hps5 |
A |
G |
7: 46,432,893 (GRCm39) |
|
probably null |
Het |
Hsd17b3 |
T |
C |
13: 64,236,882 (GRCm39) |
M21V |
probably benign |
Het |
Kat6b |
T |
C |
14: 21,718,849 (GRCm39) |
V1176A |
probably benign |
Het |
Midn |
A |
G |
10: 79,992,336 (GRCm39) |
K463E |
probably damaging |
Het |
Mier1 |
A |
G |
4: 102,996,631 (GRCm39) |
E103G |
probably damaging |
Het |
Muc15 |
A |
G |
2: 110,564,160 (GRCm39) |
N232S |
possibly damaging |
Het |
Ncoa2 |
T |
A |
1: 13,294,875 (GRCm39) |
E15V |
probably damaging |
Het |
Or10a5 |
A |
T |
7: 106,635,889 (GRCm39) |
N176Y |
probably damaging |
Het |
Or2n1d |
A |
G |
17: 38,646,735 (GRCm39) |
K229R |
probably benign |
Het |
Or52n2b |
T |
A |
7: 104,565,841 (GRCm39) |
T221S |
probably benign |
Het |
Pate14 |
C |
T |
9: 36,549,176 (GRCm39) |
G28E |
probably benign |
Het |
Pigf |
A |
T |
17: 87,327,923 (GRCm39) |
F115I |
probably benign |
Het |
Prpsap1 |
A |
T |
11: 116,362,317 (GRCm39) |
V355E |
probably damaging |
Het |
Ptprk |
G |
T |
10: 28,359,294 (GRCm39) |
|
probably benign |
Het |
Rae1 |
G |
A |
2: 172,846,957 (GRCm39) |
R67H |
probably damaging |
Het |
Sema3a |
G |
A |
5: 13,606,494 (GRCm39) |
|
probably null |
Het |
Slc22a22 |
T |
C |
15: 57,126,758 (GRCm39) |
T104A |
probably benign |
Het |
Slc38a2 |
A |
T |
15: 96,593,168 (GRCm39) |
L137* |
probably null |
Het |
Smgc |
A |
G |
15: 91,725,670 (GRCm39) |
|
probably benign |
Het |
Syce3 |
A |
G |
15: 89,274,648 (GRCm39) |
|
probably benign |
Het |
Syt9 |
T |
A |
7: 107,024,343 (GRCm39) |
W79R |
probably damaging |
Het |
Tgoln1 |
A |
C |
6: 72,592,974 (GRCm39) |
S169A |
probably benign |
Het |
Thnsl1 |
A |
G |
2: 21,216,477 (GRCm39) |
D77G |
probably benign |
Het |
Tsr1 |
T |
A |
11: 74,798,767 (GRCm39) |
V712E |
probably damaging |
Het |
Wdr12 |
C |
T |
1: 60,128,525 (GRCm39) |
|
probably benign |
Het |
Xdh |
T |
A |
17: 74,250,886 (GRCm39) |
N22I |
probably damaging |
Het |
Zfp3 |
T |
A |
11: 70,662,395 (GRCm39) |
L118Q |
probably benign |
Het |
Zfp592 |
A |
G |
7: 80,687,623 (GRCm39) |
N883D |
probably benign |
Het |
Zfp609 |
T |
A |
9: 65,638,483 (GRCm39) |
M250L |
probably benign |
Het |
Zfp94 |
A |
T |
7: 24,002,495 (GRCm39) |
S316T |
probably damaging |
Het |
Zfp955b |
A |
G |
17: 33,521,947 (GRCm39) |
N472S |
probably benign |
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 |
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 |
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'- TCCAATTTATCAATGGTTACACATCATCGACA -3'
(R):5'- ACTGGCAGTCTGCATAGCAGGAA -3'
Sequencing Primer
(F):5'- CACATCATCGACAATTTCTTGTGG -3'
(R):5'- CAAAGGCAACTGTCACTGTGTTC -3'
|
Posted On |
2013-07-30 |