Incidental Mutation 'IGL03365:Adam6a'
| ID |
420057 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam6a
|
| Ensembl Gene |
ENSMUSG00000043945 |
| Gene Name |
a disintegrin and metallopeptidase domain 6A |
| Synonyms |
Adam6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL03365
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
113507528-113510034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113507765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 46
(I46N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053086]
|
| AlphaFold |
B2RSY5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053086
AA Change: I46N
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: I46N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
30 |
167 |
6.9e-17 |
PFAM |
|
Pfam:Reprolysin
|
222 |
407 |
4e-15 |
PFAM |
|
DISIN
|
427 |
502 |
1.63e-33 |
SMART |
|
ACR
|
503 |
640 |
7.46e-62 |
SMART |
|
transmembrane domain
|
704 |
726 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
T |
G |
5: 25,202,809 (GRCm39) |
|
probably benign |
Het |
| Adipor1 |
A |
G |
1: 134,359,380 (GRCm39) |
D371G |
possibly damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,633,851 (GRCm39) |
P307S |
probably benign |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,531 (GRCm39) |
D513G |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,243,674 (GRCm39) |
I1408N |
probably damaging |
Het |
| Avil |
T |
C |
10: 126,846,852 (GRCm39) |
V472A |
probably damaging |
Het |
| Bpifa6 |
C |
A |
2: 153,831,204 (GRCm39) |
Q257K |
possibly damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,248,225 (GRCm39) |
V380L |
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,721,649 (GRCm39) |
S1111A |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,725,663 (GRCm39) |
|
probably null |
Het |
| Dock8 |
C |
T |
19: 25,077,048 (GRCm39) |
P506L |
possibly damaging |
Het |
| Ecsit |
A |
C |
9: 21,987,822 (GRCm39) |
H72Q |
probably damaging |
Het |
| Eif1b |
T |
A |
9: 120,323,186 (GRCm39) |
D15E |
probably benign |
Het |
| Enpp1 |
A |
G |
10: 24,544,923 (GRCm39) |
Y319H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,907,765 (GRCm39) |
N2746D |
probably damaging |
Het |
| Fgf20 |
G |
T |
8: 40,732,932 (GRCm39) |
L115I |
possibly damaging |
Het |
| Hip1r |
C |
T |
5: 124,138,230 (GRCm39) |
R775W |
probably damaging |
Het |
| Hycc1 |
A |
T |
5: 24,188,158 (GRCm39) |
Y245N |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,735,917 (GRCm39) |
S672T |
probably benign |
Het |
| Morf4l2 |
A |
G |
X: 135,634,464 (GRCm39) |
Y255H |
probably benign |
Het |
| Mri1 |
A |
G |
8: 84,978,262 (GRCm39) |
V343A |
possibly damaging |
Het |
| Mybphl |
T |
A |
3: 108,272,314 (GRCm39) |
M1K |
probably null |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Ofd1 |
C |
A |
X: 165,175,512 (GRCm39) |
V951F |
probably damaging |
Het |
| Or4k51 |
G |
T |
2: 111,584,772 (GRCm39) |
M59I |
possibly damaging |
Het |
| Or51r1 |
G |
T |
7: 102,227,836 (GRCm39) |
V45F |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,224,108 (GRCm39) |
V202D |
possibly damaging |
Het |
| Parp12 |
G |
A |
6: 39,079,581 (GRCm39) |
R310W |
probably damaging |
Het |
| Pcdh11x |
T |
A |
X: 119,425,935 (GRCm39) |
D1019E |
probably benign |
Het |
| Ppp1r9a |
T |
A |
6: 5,110,993 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,030,581 (GRCm39) |
|
probably benign |
Het |
| Qser1 |
T |
A |
2: 104,617,344 (GRCm39) |
N1156I |
probably damaging |
Het |
| Rgs3 |
T |
A |
4: 62,607,912 (GRCm39) |
D59E |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,339,937 (GRCm39) |
F917S |
probably damaging |
Het |
| Sap30bp |
G |
A |
11: 115,855,078 (GRCm39) |
V263M |
possibly damaging |
Het |
| Scart2 |
T |
A |
7: 139,876,682 (GRCm39) |
V691E |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,691,596 (GRCm39) |
H229N |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,436,349 (GRCm39) |
V1233A |
possibly damaging |
Het |
| Stam |
T |
A |
2: 14,151,201 (GRCm39) |
Y519* |
probably null |
Het |
| Synj2 |
A |
G |
17: 6,069,679 (GRCm39) |
T602A |
probably damaging |
Het |
| Tas2r126 |
C |
T |
6: 42,412,391 (GRCm39) |
A308V |
probably benign |
Het |
| Tm4sf20 |
T |
C |
1: 82,745,948 (GRCm39) |
|
probably benign |
Het |
| Ttc23 |
G |
A |
7: 67,312,085 (GRCm39) |
|
probably benign |
Het |
| Vmn1r90 |
T |
C |
7: 14,295,229 (GRCm39) |
I290V |
probably damaging |
Het |
| Xirp1 |
A |
C |
9: 119,847,605 (GRCm39) |
L426W |
probably damaging |
Het |
| Zgrf1 |
T |
G |
3: 127,392,423 (GRCm39) |
F430L |
possibly damaging |
Het |
|
| Other mutations in Adam6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Adam6a
|
APN |
12 |
113,508,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00896:Adam6a
|
APN |
12 |
113,509,030 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01146:Adam6a
|
APN |
12 |
113,507,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01285:Adam6a
|
APN |
12 |
113,509,893 (GRCm39) |
makesense |
probably null |
|
|
IGL01839:Adam6a
|
APN |
12 |
113,508,242 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01906:Adam6a
|
APN |
12 |
113,507,951 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02306:Adam6a
|
APN |
12 |
113,509,343 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03146:Adam6a
|
APN |
12 |
113,509,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03176:Adam6a
|
APN |
12 |
113,509,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03373:Adam6a
|
APN |
12 |
113,509,172 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
PIT4802001:Adam6a
|
UTSW |
12 |
113,509,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Adam6a
|
UTSW |
12 |
113,507,849 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0149:Adam6a
|
UTSW |
12 |
113,509,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Adam6a
|
UTSW |
12 |
113,508,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0376:Adam6a
|
UTSW |
12 |
113,508,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Adam6a
|
UTSW |
12 |
113,508,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Adam6a
|
UTSW |
12 |
113,508,069 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1553:Adam6a
|
UTSW |
12 |
113,508,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1679:Adam6a
|
UTSW |
12 |
113,508,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1808:Adam6a
|
UTSW |
12 |
113,508,334 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1826:Adam6a
|
UTSW |
12 |
113,509,742 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1856:Adam6a
|
UTSW |
12 |
113,508,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Adam6a
|
UTSW |
12 |
113,509,556 (GRCm39) |
missense |
probably benign |
|
|
R2011:Adam6a
|
UTSW |
12 |
113,508,998 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2049:Adam6a
|
UTSW |
12 |
113,508,049 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2364:Adam6a
|
UTSW |
12 |
113,508,250 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3820:Adam6a
|
UTSW |
12 |
113,507,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4119:Adam6a
|
UTSW |
12 |
113,508,194 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4540:Adam6a
|
UTSW |
12 |
113,508,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Adam6a
|
UTSW |
12 |
113,508,569 (GRCm39) |
missense |
probably benign |
|
|
R4665:Adam6a
|
UTSW |
12 |
113,507,992 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4859:Adam6a
|
UTSW |
12 |
113,509,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Adam6a
|
UTSW |
12 |
113,508,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5270:Adam6a
|
UTSW |
12 |
113,507,747 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5751:Adam6a
|
UTSW |
12 |
113,508,447 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5775:Adam6a
|
UTSW |
12 |
113,509,886 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5863:Adam6a
|
UTSW |
12 |
113,507,987 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6154:Adam6a
|
UTSW |
12 |
113,509,292 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6313:Adam6a
|
UTSW |
12 |
113,508,670 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6316:Adam6a
|
UTSW |
12 |
113,509,196 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6706:Adam6a
|
UTSW |
12 |
113,508,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6845:Adam6a
|
UTSW |
12 |
113,507,717 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7134:Adam6a
|
UTSW |
12 |
113,508,655 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7179:Adam6a
|
UTSW |
12 |
113,509,291 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7206:Adam6a
|
UTSW |
12 |
113,509,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Adam6a
|
UTSW |
12 |
113,509,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7296:Adam6a
|
UTSW |
12 |
113,509,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7676:Adam6a
|
UTSW |
12 |
113,508,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7730:Adam6a
|
UTSW |
12 |
113,507,660 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7743:Adam6a
|
UTSW |
12 |
113,508,152 (GRCm39) |
missense |
probably benign |
|
|
R7841:Adam6a
|
UTSW |
12 |
113,509,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Adam6a
|
UTSW |
12 |
113,509,757 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8531:Adam6a
|
UTSW |
12 |
113,508,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Adam6a
|
UTSW |
12 |
113,508,020 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9624:Adam6a
|
UTSW |
12 |
113,509,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9679:Adam6a
|
UTSW |
12 |
113,509,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9680:Adam6a
|
UTSW |
12 |
113,509,484 (GRCm39) |
nonsense |
probably null |
|
|
X0027:Adam6a
|
UTSW |
12 |
113,508,863 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Adam6a
|
UTSW |
12 |
113,508,941 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2016-08-02 |
Incidental Mutation