Incidental Mutation 'IGL02707:Adam26b'
ID |
304420 |
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 # |
IGL02707
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
43972901-43981174 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
T to C
at 43972895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079032
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080135]
|
AlphaFold |
Q6IMH6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080135
|
SMART Domains |
Protein: ENSMUSP00000079032 Gene: ENSMUSG00000063900
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
C |
9: 57,165,928 (GRCm39) |
T149A |
probably benign |
Het |
4932414N04Rik |
A |
C |
2: 68,561,474 (GRCm39) |
Q267P |
possibly damaging |
Het |
Actr5 |
T |
C |
2: 158,478,617 (GRCm39) |
V489A |
probably benign |
Het |
Aff4 |
A |
G |
11: 53,290,567 (GRCm39) |
N509S |
probably benign |
Het |
Arhgap22 |
C |
T |
14: 33,085,229 (GRCm39) |
|
probably benign |
Het |
Arhgap9 |
C |
A |
10: 127,165,476 (GRCm39) |
H628Q |
probably damaging |
Het |
Asap1 |
A |
T |
15: 64,001,123 (GRCm39) |
I486N |
probably damaging |
Het |
Asb15 |
A |
T |
6: 24,558,787 (GRCm39) |
|
probably benign |
Het |
Avil |
A |
G |
10: 126,842,431 (GRCm39) |
D70G |
probably damaging |
Het |
Cct6b |
T |
C |
11: 82,645,780 (GRCm39) |
|
probably benign |
Het |
Cep63 |
A |
T |
9: 102,464,180 (GRCm39) |
I717K |
probably damaging |
Het |
Chd4 |
G |
T |
6: 125,085,730 (GRCm39) |
A875S |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,471,237 (GRCm39) |
M706K |
unknown |
Het |
Cr1l |
T |
C |
1: 194,806,019 (GRCm39) |
T155A |
probably benign |
Het |
Ctnna3 |
A |
G |
10: 63,339,844 (GRCm39) |
N10S |
probably benign |
Het |
Cubn |
A |
G |
2: 13,450,843 (GRCm39) |
V854A |
probably damaging |
Het |
Dgkh |
T |
C |
14: 78,823,091 (GRCm39) |
T845A |
possibly damaging |
Het |
F10 |
G |
A |
8: 13,098,252 (GRCm39) |
A152T |
probably damaging |
Het |
Gabrg3 |
C |
A |
7: 56,632,439 (GRCm39) |
E170* |
probably null |
Het |
Heatr5a |
A |
G |
12: 51,968,149 (GRCm39) |
V829A |
probably benign |
Het |
Htt |
T |
A |
5: 34,987,225 (GRCm39) |
|
probably null |
Het |
Icam4 |
T |
C |
9: 20,941,770 (GRCm39) |
Y257H |
possibly damaging |
Het |
Jph1 |
A |
G |
1: 17,074,675 (GRCm39) |
S448P |
probably benign |
Het |
Kansl1l |
G |
A |
1: 66,812,604 (GRCm39) |
L125F |
probably damaging |
Het |
Kifc1 |
A |
T |
17: 34,100,467 (GRCm39) |
C46* |
probably null |
Het |
Lce3b |
A |
G |
3: 92,841,193 (GRCm39) |
D96G |
unknown |
Het |
Mab21l1 |
A |
T |
3: 55,690,505 (GRCm39) |
I31F |
possibly damaging |
Het |
Mctp2 |
A |
G |
7: 71,909,089 (GRCm39) |
Y75H |
possibly damaging |
Het |
Mesp2 |
A |
G |
7: 79,461,274 (GRCm39) |
I200V |
probably benign |
Het |
Msr1 |
T |
C |
8: 40,085,870 (GRCm39) |
|
probably benign |
Het |
Mtfr2 |
C |
T |
10: 20,224,084 (GRCm39) |
T6I |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,828,438 (GRCm39) |
|
probably benign |
Het |
Myoc |
T |
A |
1: 162,467,029 (GRCm39) |
I66N |
probably benign |
Het |
Or10d1b |
T |
C |
9: 39,613,937 (GRCm39) |
I43V |
probably damaging |
Het |
Or4a70 |
A |
T |
2: 89,324,171 (GRCm39) |
Y162N |
probably damaging |
Het |
Or51k1 |
A |
C |
7: 103,661,609 (GRCm39) |
L100W |
probably damaging |
Het |
Or52n20 |
T |
C |
7: 104,320,136 (GRCm39) |
C76R |
probably damaging |
Het |
Or52n2b |
A |
G |
7: 104,565,859 (GRCm39) |
C215R |
probably damaging |
Het |
Or7a39 |
T |
C |
10: 78,715,759 (GRCm39) |
L251S |
probably damaging |
Het |
Per2 |
T |
C |
1: 91,378,450 (GRCm39) |
D33G |
possibly damaging |
Het |
Pknox1 |
A |
G |
17: 31,821,793 (GRCm39) |
I295V |
possibly damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Rhot2 |
A |
G |
17: 26,063,270 (GRCm39) |
S19P |
probably damaging |
Het |
Rps6kb1 |
C |
A |
11: 86,426,236 (GRCm39) |
|
probably null |
Het |
Serpinb1b |
C |
T |
13: 33,275,648 (GRCm39) |
T194I |
probably benign |
Het |
Smarcad1 |
T |
A |
6: 65,029,790 (GRCm39) |
|
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,428,759 (GRCm39) |
S449P |
probably benign |
Het |
Thrb |
A |
C |
14: 18,026,721 (GRCm38) |
I275L |
probably benign |
Het |
Tjp1 |
T |
A |
7: 64,979,431 (GRCm39) |
K365* |
probably null |
Het |
Tjp1 |
T |
A |
7: 64,979,430 (GRCm39) |
K365I |
possibly damaging |
Het |
Tm4sf4 |
C |
A |
3: 57,333,939 (GRCm39) |
C75* |
probably null |
Het |
Tmem131 |
T |
C |
1: 36,864,560 (GRCm39) |
T558A |
probably benign |
Het |
Txndc16 |
T |
C |
14: 45,399,730 (GRCm39) |
T408A |
probably benign |
Het |
Ube2j1 |
T |
C |
4: 33,038,206 (GRCm39) |
L38P |
possibly damaging |
Het |
Urb2 |
T |
C |
8: 124,757,425 (GRCm39) |
I1044T |
probably benign |
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 |
IGL01081:Adam26b
|
APN |
8 |
43,972,975 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01783:Adam26b
|
APN |
8 |
43,974,798 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02021:Adam26b
|
APN |
8 |
43,972,909 (GRCm39) |
missense |
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 |
2015-04-16 |