Incidental Mutation 'R6610:Adam26b'
| ID |
525895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam26b
|
| Ensembl Gene |
ENSMUSG00000063900 |
| Gene Name |
a disintegrin and metallopeptidase domain 26B |
| Synonyms |
|
| MMRRC Submission |
044733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R6610 (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 C
at 43974190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 271
(K271E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080135]
|
| AlphaFold |
Q6IMH6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080135
AA Change: K271E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079032
Gene: ENSMUSG00000063900
AA Change: K271E
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
A |
T |
9: 21,437,561 (GRCm39) |
M1L |
probably benign |
Het |
| Ankrd44 |
A |
G |
1: 54,694,246 (GRCm39) |
I914T |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,612,013 (GRCm39) |
R396G |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,104,505 (GRCm39) |
K2173E |
probably benign |
Het |
| Cbx2 |
A |
G |
11: 118,915,036 (GRCm39) |
D51G |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 57,976,419 (GRCm39) |
T532S |
possibly damaging |
Het |
| Ccnt1 |
T |
C |
15: 98,462,982 (GRCm39) |
I63M |
probably damaging |
Het |
| Cdc20b |
C |
T |
13: 113,200,796 (GRCm39) |
T172I |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Ces2f |
T |
G |
8: 105,676,738 (GRCm39) |
|
probably null |
Het |
| Cfh |
A |
T |
1: 140,029,486 (GRCm39) |
C597* |
probably null |
Het |
| Cntnap2 |
A |
T |
6: 45,992,191 (GRCm39) |
T373S |
probably benign |
Het |
| Cyb5r4 |
T |
G |
9: 86,941,470 (GRCm39) |
C64G |
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 43,995,520 (GRCm39) |
F416L |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Eif4e1b |
A |
G |
13: 54,932,128 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
A |
G |
4: 56,758,236 (GRCm39) |
V1227A |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,718,180 (GRCm39) |
R256K |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,643,707 (GRCm39) |
L1054P |
possibly damaging |
Het |
| Grik1 |
A |
G |
16: 87,831,200 (GRCm39) |
I190T |
probably damaging |
Het |
| Gsdmc2 |
T |
C |
15: 63,696,857 (GRCm39) |
N438S |
probably benign |
Het |
| Igkv15-103 |
A |
T |
6: 68,414,617 (GRCm39) |
R19* |
probably null |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Lhcgr |
A |
T |
17: 89,077,307 (GRCm39) |
I93K |
possibly damaging |
Het |
| Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
| Mymk |
G |
T |
2: 26,957,405 (GRCm39) |
S29R |
possibly damaging |
Het |
| Nab2 |
A |
T |
10: 127,500,207 (GRCm39) |
I295N |
probably damaging |
Het |
| Neu2 |
A |
T |
1: 87,524,407 (GRCm39) |
T131S |
probably benign |
Het |
| Pdcd7 |
T |
A |
9: 65,261,965 (GRCm39) |
M129K |
possibly damaging |
Het |
| Ptar1 |
A |
G |
19: 23,695,208 (GRCm39) |
H225R |
probably benign |
Het |
| Pygb |
T |
A |
2: 150,665,886 (GRCm39) |
|
probably null |
Het |
| Rpap3 |
T |
C |
15: 97,586,049 (GRCm39) |
D314G |
probably benign |
Het |
| Scara3 |
A |
G |
14: 66,168,670 (GRCm39) |
S316P |
probably damaging |
Het |
| Sec24a |
C |
T |
11: 51,587,483 (GRCm39) |
V1051I |
probably benign |
Het |
| Setdb1 |
G |
T |
3: 95,235,888 (GRCm39) |
A841D |
probably damaging |
Het |
| Stk32b |
G |
A |
5: 37,606,022 (GRCm39) |
T407I |
probably benign |
Het |
| Tcte2 |
G |
A |
17: 13,948,250 (GRCm39) |
Q10* |
probably null |
Het |
| Tgm2 |
C |
A |
2: 157,985,020 (GRCm39) |
E29* |
probably null |
Het |
| Trim32 |
G |
A |
4: 65,533,308 (GRCm39) |
V622M |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
| Vmn1r123 |
A |
G |
7: 20,896,515 (GRCm39) |
N136D |
probably benign |
Het |
| Vmn2r31 |
A |
T |
7: 7,387,588 (GRCm39) |
V661E |
probably damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,261,838 (GRCm39) |
F166L |
probably damaging |
Het |
| Zfp426 |
T |
C |
9: 20,384,389 (GRCm39) |
K98R |
probably damaging |
Het |
| Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCTACAATGTGTGCCATG -3'
(R):5'- TGGACCCACCACAGGTTTATTG -3'
Sequencing Primer
(F):5'- ACAATGTGTGCCATGTCTGAC -3'
(R):5'- CCACCACAGGTTTATTGAATATTTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation