Incidental Mutation 'IGL01081:Adam26b'
ID |
51732 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adam26b
|
Ensembl Gene |
ENSMUSG00000063900 |
Gene Name |
a disintegrin and metallopeptidase domain 26B |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL01081
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
43972901-43981174 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43972975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 676
(I676V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079032
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080135]
|
AlphaFold |
Q6IMH6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080135
AA Change: I676V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000079032 Gene: ENSMUSG00000063900 AA Change: I676V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
29 |
147 |
4.9e-18 |
PFAM |
Pfam:Reprolysin_5
|
193 |
364 |
4.8e-15 |
PFAM |
Pfam:Reprolysin_4
|
194 |
380 |
1.3e-8 |
PFAM |
Pfam:Reprolysin
|
195 |
385 |
9.9e-50 |
PFAM |
Pfam:Reprolysin_2
|
215 |
377 |
3.9e-15 |
PFAM |
Pfam:Reprolysin_3
|
219 |
340 |
2e-15 |
PFAM |
DISIN
|
401 |
476 |
5.88e-40 |
SMART |
ACR
|
477 |
613 |
7.69e-64 |
SMART |
low complexity region
|
631 |
642 |
N/A |
INTRINSIC |
transmembrane domain
|
670 |
692 |
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 |
Acad8 |
A |
G |
9: 26,901,890 (GRCm39) |
L158P |
probably damaging |
Het |
Aco1 |
A |
G |
4: 40,197,576 (GRCm39) |
Q860R |
probably benign |
Het |
Actl11 |
A |
T |
9: 107,806,181 (GRCm39) |
Q168L |
possibly damaging |
Het |
Aldoart2 |
A |
C |
12: 55,612,920 (GRCm39) |
I282L |
probably benign |
Het |
Capns1 |
G |
T |
7: 29,889,565 (GRCm39) |
S211R |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,245,983 (GRCm39) |
V1158A |
probably damaging |
Het |
Cryl1 |
C |
T |
14: 57,523,821 (GRCm39) |
|
probably null |
Het |
Cxcr5 |
A |
G |
9: 44,425,607 (GRCm39) |
|
probably benign |
Het |
Dcaf13 |
A |
G |
15: 38,982,201 (GRCm39) |
K56E |
probably damaging |
Het |
Dlx6 |
T |
G |
6: 6,867,068 (GRCm39) |
S85A |
probably damaging |
Het |
Dsg2 |
C |
T |
18: 20,722,999 (GRCm39) |
|
probably benign |
Het |
Dync1li1 |
T |
A |
9: 114,549,665 (GRCm39) |
S412T |
possibly damaging |
Het |
Ebf3 |
C |
A |
7: 136,827,625 (GRCm39) |
|
probably benign |
Het |
Fads3 |
T |
C |
19: 10,030,366 (GRCm39) |
I168T |
probably benign |
Het |
Gm10295 |
G |
A |
7: 71,000,296 (GRCm39) |
P95S |
unknown |
Het |
Gm43638 |
T |
C |
5: 87,634,455 (GRCm39) |
T51A |
probably damaging |
Het |
Gm5114 |
G |
A |
7: 39,060,071 (GRCm39) |
|
probably benign |
Het |
Gucy2c |
G |
A |
6: 136,679,737 (GRCm39) |
T974M |
probably damaging |
Het |
Ighv1-19-1 |
T |
C |
12: 114,672,258 (GRCm39) |
|
probably benign |
Het |
Kri1 |
A |
T |
9: 21,191,723 (GRCm39) |
L173Q |
probably damaging |
Het |
Lztfl1 |
T |
C |
9: 123,531,338 (GRCm39) |
D210G |
probably benign |
Het |
Morc2a |
T |
A |
11: 3,638,149 (GRCm39) |
N958K |
probably damaging |
Het |
Msl3l2 |
G |
A |
10: 55,992,021 (GRCm39) |
A249T |
probably benign |
Het |
Nlrp4a |
A |
G |
7: 26,149,254 (GRCm39) |
E287G |
probably benign |
Het |
Nlrp9a |
A |
T |
7: 26,257,519 (GRCm39) |
N290I |
possibly damaging |
Het |
Or2b28 |
T |
G |
13: 21,531,185 (GRCm39) |
L29R |
probably damaging |
Het |
Or4e2 |
A |
G |
14: 52,688,484 (GRCm39) |
T205A |
probably benign |
Het |
Or5al6 |
C |
T |
2: 85,976,955 (GRCm39) |
G41D |
probably benign |
Het |
Pcsk7 |
A |
G |
9: 45,840,005 (GRCm39) |
D731G |
probably benign |
Het |
Plppr5 |
T |
A |
3: 117,480,298 (GRCm39) |
|
probably benign |
Het |
Podxl |
T |
C |
6: 31,505,639 (GRCm39) |
T135A |
possibly damaging |
Het |
Pole |
T |
G |
5: 110,485,106 (GRCm39) |
C407G |
possibly damaging |
Het |
Prl |
C |
A |
13: 27,249,024 (GRCm39) |
N224K |
possibly damaging |
Het |
Prnp |
A |
T |
2: 131,778,340 (GRCm39) |
|
probably benign |
Het |
Proser2 |
A |
G |
2: 6,105,149 (GRCm39) |
*472R |
probably null |
Het |
Rhag |
T |
C |
17: 41,122,178 (GRCm39) |
S38P |
possibly damaging |
Het |
Rnf146 |
T |
C |
10: 29,223,856 (GRCm39) |
D10G |
probably damaging |
Het |
Rps3a1 |
T |
C |
3: 86,049,085 (GRCm39) |
D29G |
probably benign |
Het |
Sv2a |
A |
T |
3: 96,097,012 (GRCm39) |
I446F |
probably benign |
Het |
Tbc1d30 |
C |
A |
10: 121,103,319 (GRCm39) |
R571L |
probably damaging |
Het |
Tfrc |
T |
A |
16: 32,443,646 (GRCm39) |
|
probably null |
Het |
Tnfaip1 |
G |
A |
11: 78,419,129 (GRCm39) |
P156S |
probably damaging |
Het |
Vmn1r226 |
T |
C |
17: 20,908,166 (GRCm39) |
S133P |
probably damaging |
Het |
Wnt9b |
C |
T |
11: 103,622,836 (GRCm39) |
R189K |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,983,726 (GRCm39) |
H564R |
probably benign |
Het |
Zfp442 |
C |
A |
2: 150,251,267 (GRCm39) |
E211* |
probably null |
Het |
|
Other mutations in Adam26b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00703:Adam26b
|
APN |
8 |
43,973,216 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00806:Adam26b
|
APN |
8 |
43,974,379 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00984:Adam26b
|
APN |
8 |
43,973,410 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01783:Adam26b
|
APN |
8 |
43,974,798 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02021:Adam26b
|
APN |
8 |
43,972,909 (GRCm39) |
missense |
probably benign |
|
IGL02707:Adam26b
|
APN |
8 |
43,972,895 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03112:Adam26b
|
APN |
8 |
43,974,549 (GRCm39) |
missense |
probably benign |
|
R0195:Adam26b
|
UTSW |
8 |
43,973,307 (GRCm39) |
missense |
probably damaging |
0.99 |
R0453:Adam26b
|
UTSW |
8 |
43,973,387 (GRCm39) |
missense |
probably benign |
0.00 |
R0562:Adam26b
|
UTSW |
8 |
43,973,408 (GRCm39) |
missense |
probably benign |
0.36 |
R0645:Adam26b
|
UTSW |
8 |
43,973,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R0763:Adam26b
|
UTSW |
8 |
43,973,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R1697:Adam26b
|
UTSW |
8 |
43,974,000 (GRCm39) |
missense |
probably damaging |
0.98 |
R1739:Adam26b
|
UTSW |
8 |
43,974,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R1751:Adam26b
|
UTSW |
8 |
43,972,948 (GRCm39) |
missense |
probably benign |
0.00 |
R1767:Adam26b
|
UTSW |
8 |
43,972,948 (GRCm39) |
missense |
probably benign |
0.00 |
R1994:Adam26b
|
UTSW |
8 |
43,973,676 (GRCm39) |
missense |
probably benign |
0.44 |
R3747:Adam26b
|
UTSW |
8 |
43,974,234 (GRCm39) |
missense |
probably benign |
0.07 |
R3748:Adam26b
|
UTSW |
8 |
43,974,234 (GRCm39) |
missense |
probably benign |
0.07 |
R3750:Adam26b
|
UTSW |
8 |
43,974,234 (GRCm39) |
missense |
probably benign |
0.07 |
R3771:Adam26b
|
UTSW |
8 |
43,973,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R4027:Adam26b
|
UTSW |
8 |
43,973,409 (GRCm39) |
missense |
probably benign |
0.09 |
R4652:Adam26b
|
UTSW |
8 |
43,974,375 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4790:Adam26b
|
UTSW |
8 |
43,973,764 (GRCm39) |
missense |
probably benign |
0.19 |
R4859:Adam26b
|
UTSW |
8 |
43,973,296 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5059:Adam26b
|
UTSW |
8 |
43,973,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R5191:Adam26b
|
UTSW |
8 |
43,973,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R5540:Adam26b
|
UTSW |
8 |
43,974,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R5568:Adam26b
|
UTSW |
8 |
43,973,529 (GRCm39) |
missense |
probably benign |
0.00 |
R5886:Adam26b
|
UTSW |
8 |
43,973,310 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5935:Adam26b
|
UTSW |
8 |
43,974,335 (GRCm39) |
missense |
probably benign |
0.00 |
R5983:Adam26b
|
UTSW |
8 |
43,974,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R6544:Adam26b
|
UTSW |
8 |
43,974,818 (GRCm39) |
missense |
probably damaging |
0.98 |
R6610:Adam26b
|
UTSW |
8 |
43,974,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R6668:Adam26b
|
UTSW |
8 |
43,973,727 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6966:Adam26b
|
UTSW |
8 |
43,974,472 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7545:Adam26b
|
UTSW |
8 |
43,974,750 (GRCm39) |
missense |
probably damaging |
0.98 |
R7596:Adam26b
|
UTSW |
8 |
43,973,237 (GRCm39) |
missense |
probably benign |
|
R7634:Adam26b
|
UTSW |
8 |
43,974,034 (GRCm39) |
missense |
probably benign |
|
R7657:Adam26b
|
UTSW |
8 |
43,974,579 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7692:Adam26b
|
UTSW |
8 |
43,973,832 (GRCm39) |
missense |
probably benign |
0.00 |
R7769:Adam26b
|
UTSW |
8 |
43,974,732 (GRCm39) |
missense |
probably benign |
0.00 |
R7912:Adam26b
|
UTSW |
8 |
43,973,245 (GRCm39) |
missense |
probably benign |
0.13 |
R7918:Adam26b
|
UTSW |
8 |
43,974,138 (GRCm39) |
missense |
probably benign |
0.14 |
R8286:Adam26b
|
UTSW |
8 |
43,972,998 (GRCm39) |
missense |
probably benign |
0.05 |
R8897:Adam26b
|
UTSW |
8 |
43,974,009 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8922:Adam26b
|
UTSW |
8 |
43,973,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R9075:Adam26b
|
UTSW |
8 |
43,973,405 (GRCm39) |
missense |
probably benign |
0.07 |
R9225:Adam26b
|
UTSW |
8 |
43,973,453 (GRCm39) |
nonsense |
probably null |
|
X0066:Adam26b
|
UTSW |
8 |
43,973,041 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1088:Adam26b
|
UTSW |
8 |
43,973,634 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Adam26b
|
UTSW |
8 |
43,974,459 (GRCm39) |
missense |
probably benign |
0.03 |
Z1177:Adam26b
|
UTSW |
8 |
43,973,735 (GRCm39) |
missense |
probably benign |
0.24 |
|
Posted On |
2013-06-21 |