Incidental Mutation 'R8286:Adam26b'
| ID |
638460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam26b
|
| Ensembl Gene |
ENSMUSG00000063900 |
| Gene Name |
a disintegrin and metallopeptidase domain 26B |
| Synonyms |
|
| MMRRC Submission |
067708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R8286 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
43972901-43981174 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43972998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 668
(N668I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080135]
|
| AlphaFold |
Q6IMH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080135
AA Change: N668I
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000079032
Gene: ENSMUSG00000063900
AA Change: N668I
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
T |
5: 8,914,119 (GRCm39) |
Y1163F |
probably damaging |
Het |
| Abcd4 |
A |
G |
12: 84,649,920 (GRCm39) |
V589A |
probably benign |
Het |
| Atp2b2 |
T |
C |
6: 113,819,275 (GRCm39) |
N6S |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,392,063 (GRCm39) |
Y468C |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 96,002,252 (GRCm39) |
V52D |
|
Het |
| Cped1 |
A |
T |
6: 22,254,601 (GRCm39) |
Y998F |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,039,188 (GRCm39) |
V2390A |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,148,330 (GRCm39) |
C321* |
probably null |
Het |
| Dip2a |
A |
C |
10: 76,122,297 (GRCm39) |
I139S |
probably benign |
Het |
| Dnaaf9 |
T |
C |
2: 130,559,248 (GRCm39) |
I937V |
probably damaging |
Het |
| Eif1 |
A |
G |
11: 100,210,795 (GRCm39) |
|
probably benign |
Het |
| Exoc1 |
T |
C |
5: 76,711,087 (GRCm39) |
I662T |
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,528,089 (GRCm39) |
R971G |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,879,928 (GRCm39) |
T1294A |
probably damaging |
Het |
| Herc2 |
T |
G |
7: 55,879,410 (GRCm39) |
V4676G |
possibly damaging |
Het |
| Hif1a |
A |
G |
12: 73,992,022 (GRCm39) |
|
probably benign |
Het |
| Icam5 |
C |
A |
9: 20,946,822 (GRCm39) |
A450E |
possibly damaging |
Het |
| Map3k21 |
T |
A |
8: 126,637,498 (GRCm39) |
M28K |
probably benign |
Het |
| Mars1 |
C |
A |
10: 127,141,348 (GRCm39) |
R347L |
probably benign |
Het |
| Mctp1 |
A |
T |
13: 76,905,174 (GRCm39) |
I426F |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,731,960 (GRCm39) |
S3007P |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,998,149 (GRCm39) |
R65G |
possibly damaging |
Het |
| Ncald |
G |
T |
15: 37,397,505 (GRCm39) |
Y58* |
probably null |
Het |
| Neil2 |
A |
T |
14: 63,426,154 (GRCm39) |
I72K |
probably benign |
Het |
| Or8b35 |
C |
A |
9: 37,904,401 (GRCm39) |
Y204* |
probably null |
Het |
| Or8k23 |
A |
G |
2: 86,186,691 (GRCm39) |
F12L |
probably damaging |
Het |
| Pan2 |
A |
G |
10: 128,154,189 (GRCm39) |
D1086G |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,935,870 (GRCm39) |
T1087A |
probably damaging |
Het |
| Prpf39 |
A |
G |
12: 65,103,132 (GRCm39) |
M469V |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,444,323 (GRCm39) |
S905C |
probably damaging |
Het |
| Rassf5 |
T |
C |
1: 131,140,067 (GRCm39) |
D164G |
possibly damaging |
Het |
| Setd1a |
T |
C |
7: 127,385,356 (GRCm39) |
W688R |
possibly damaging |
Het |
| Sfswap |
C |
T |
5: 129,616,783 (GRCm39) |
T409I |
probably damaging |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Slfn9 |
G |
C |
11: 82,872,095 (GRCm39) |
N880K |
probably damaging |
Het |
| Sprr1b |
T |
C |
3: 92,344,720 (GRCm39) |
K52R |
probably benign |
Het |
| Tfb2m |
T |
C |
1: 179,356,770 (GRCm39) |
D388G |
probably damaging |
Het |
| Tmem234 |
T |
C |
4: 129,500,881 (GRCm39) |
|
probably benign |
Het |
| Traj43 |
A |
G |
14: 54,412,201 (GRCm39) |
N1D |
|
Het |
| Trmt1l |
T |
A |
1: 151,333,543 (GRCm39) |
I682N |
probably damaging |
Het |
| Trp53rka |
T |
C |
2: 165,333,445 (GRCm39) |
D148G |
probably damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,285,855 (GRCm39) |
V440A |
probably benign |
Het |
| Vxn |
C |
T |
1: 9,683,613 (GRCm39) |
T67I |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,085,287 (GRCm39) |
V736I |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCCTTCGTTAGAGTCACGC -3'
(R):5'- ACAGAAAGTGTGTCAGCAAGTCTG -3'
Sequencing Primer
(F):5'- CTATTGAGAAGGGTGTTGTTTCCC -3'
(R):5'- TCAGCAAGTCTGATCTGGTAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation