Incidental Mutation 'R6668:Adam26b'
| ID |
527065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam26b
|
| Ensembl Gene |
ENSMUSG00000063900 |
| Gene Name |
a disintegrin and metallopeptidase domain 26B |
| Synonyms |
|
| MMRRC Submission |
044788-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6668 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
43972901-43981174 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43973727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 425
(V425D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080135]
|
| AlphaFold |
Q6IMH6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080135
AA Change: V425D
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000079032
Gene: ENSMUSG00000063900
AA Change: V425D
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
G |
T |
11: 116,486,868 (GRCm39) |
|
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,579,972 (GRCm39) |
S2077P |
probably benign |
Het |
| Amacr |
A |
G |
15: 10,983,468 (GRCm39) |
T93A |
probably benign |
Het |
| Arsb |
T |
A |
13: 93,930,728 (GRCm39) |
|
probably null |
Het |
| Bcas3 |
G |
A |
11: 85,692,677 (GRCm39) |
R354Q |
probably damaging |
Het |
| Chia1 |
C |
T |
3: 106,038,264 (GRCm39) |
L387F |
probably damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,327,805 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
G |
A |
9: 64,794,247 (GRCm39) |
G689S |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,688,039 (GRCm39) |
A18V |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,067,929 (GRCm39) |
V80E |
probably damaging |
Het |
| Fmo2 |
T |
A |
1: 162,704,617 (GRCm39) |
T430S |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,577,618 (GRCm39) |
I213V |
probably benign |
Het |
| Gm10134 |
A |
T |
2: 28,396,263 (GRCm39) |
R53* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,412,683 (GRCm39) |
N1524S |
probably benign |
Het |
| Kif1b |
G |
A |
4: 149,297,864 (GRCm39) |
S1104F |
probably benign |
Het |
| Map3k21 |
T |
C |
8: 126,652,852 (GRCm39) |
V326A |
possibly damaging |
Het |
| Mlst8 |
A |
G |
17: 24,696,453 (GRCm39) |
|
probably null |
Het |
| Muc16 |
A |
T |
9: 18,551,681 (GRCm39) |
S4871T |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,474,701 (GRCm39) |
|
probably benign |
Het |
| Ndufa3 |
A |
G |
7: 3,622,465 (GRCm39) |
Y41C |
probably damaging |
Het |
| Nfkbid |
T |
A |
7: 30,123,866 (GRCm39) |
L142Q |
probably benign |
Het |
| Or8b38 |
T |
A |
9: 37,973,066 (GRCm39) |
M150K |
possibly damaging |
Het |
| Peg10 |
T |
A |
6: 4,754,502 (GRCm39) |
D94E |
probably benign |
Het |
| Phactr3 |
A |
T |
2: 177,974,657 (GRCm39) |
I492F |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,492,396 (GRCm39) |
V1751A |
possibly damaging |
Het |
| Prss16 |
T |
C |
13: 22,190,918 (GRCm39) |
E238G |
probably null |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,647 (GRCm39) |
V523A |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,547,498 (GRCm39) |
S223T |
probably benign |
Het |
| Ryk |
T |
A |
9: 102,746,475 (GRCm39) |
F137I |
possibly damaging |
Het |
| Sars2 |
G |
A |
7: 28,446,429 (GRCm39) |
E194K |
probably benign |
Het |
| Spata2l |
T |
C |
8: 123,960,167 (GRCm39) |
D374G |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,937,592 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,192,652 (GRCm39) |
K1097E |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 121,017,408 (GRCm39) |
V690E |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,410,659 (GRCm39) |
N2703S |
probably damaging |
Het |
| Zfp273 |
C |
G |
13: 67,973,243 (GRCm39) |
L124V |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,031,091 (GRCm39) |
S950P |
probably damaging |
Het |
| Zfp994 |
A |
T |
17: 22,420,081 (GRCm39) |
H289Q |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCAAGGGATTCCGTCTG -3'
(R):5'- CTGTCTAATGGCCCCATATAAAAC -3'
Sequencing Primer
(F):5'- AAGGGATTCCGTCTGCTTTATACAC -3'
(R):5'- TCTCCAAAATTCAGCAACTGTAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation