Incidental Mutation 'R7692:Adam26b'
| ID |
593452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam26b
|
| Ensembl Gene |
ENSMUSG00000063900 |
| Gene Name |
a disintegrin and metallopeptidase domain 26B |
| Synonyms |
|
| MMRRC Submission |
045756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R7692 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
43972901-43981174 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43973832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 390
(T390I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080135]
|
| AlphaFold |
Q6IMH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080135
AA Change: T390I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000079032
Gene: ENSMUSG00000063900
AA Change: T390I
| 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: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
G |
10: 10,287,456 (GRCm39) |
|
probably null |
Het |
| Ado |
G |
T |
10: 67,384,265 (GRCm39) |
Y113* |
probably null |
Het |
| Angptl1 |
A |
G |
1: 156,672,885 (GRCm39) |
E237G |
probably damaging |
Het |
| Arid2 |
T |
A |
15: 96,254,578 (GRCm39) |
Y141* |
probably null |
Het |
| Clvs1 |
T |
C |
4: 9,350,739 (GRCm39) |
I183T |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,014,295 (GRCm39) |
K1817E |
probably benign |
Het |
| Eif3e |
C |
A |
15: 43,126,642 (GRCm39) |
R271L |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,703,085 (GRCm39) |
V1611A |
probably damaging |
Het |
| Enpp3 |
G |
T |
10: 24,660,739 (GRCm39) |
Y634* |
probably null |
Het |
| Evi5l |
C |
T |
8: 4,250,886 (GRCm39) |
R394W |
probably damaging |
Het |
| Fcgr3 |
A |
C |
1: 170,881,661 (GRCm39) |
F156V |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,661,402 (GRCm39) |
T294S |
probably benign |
Het |
| Gabrb3 |
A |
G |
7: 57,466,203 (GRCm39) |
Q339R |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,292,167 (GRCm39) |
T606S |
probably benign |
Het |
| Gfod1 |
T |
C |
13: 43,354,528 (GRCm39) |
Q149R |
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,788,071 (GRCm39) |
V276A |
probably benign |
Het |
| Hc |
C |
A |
2: 34,914,161 (GRCm39) |
V849F |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,459,627 (GRCm39) |
I832T |
possibly damaging |
Het |
| Hspa14 |
T |
C |
2: 3,497,643 (GRCm39) |
D283G |
probably damaging |
Het |
| Lztfl1 |
C |
T |
9: 123,541,536 (GRCm39) |
W94* |
probably null |
Het |
| Lzts3 |
T |
C |
2: 130,477,306 (GRCm39) |
S381G |
probably benign |
Het |
| Mgat2 |
A |
G |
12: 69,231,444 (GRCm39) |
Y6C |
probably damaging |
Het |
| Mrpl30 |
T |
C |
1: 37,934,439 (GRCm39) |
I27T |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,406,966 (GRCm39) |
T1045S |
unknown |
Het |
| Nlrp4a |
G |
A |
7: 26,148,690 (GRCm39) |
R99Q |
probably benign |
Het |
| Or10g1 |
T |
C |
14: 52,647,945 (GRCm39) |
Y128C |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,006 (GRCm39) |
T18A |
possibly damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,209,132 (GRCm39) |
L495P |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,109,776 (GRCm39) |
D178G |
possibly damaging |
Het |
| Prl5a1 |
C |
G |
13: 28,333,997 (GRCm39) |
L167V |
probably damaging |
Het |
| Sardh |
A |
G |
2: 27,087,651 (GRCm39) |
V740A |
probably benign |
Het |
| Sbno1 |
T |
G |
5: 124,543,709 (GRCm39) |
T277P |
probably benign |
Het |
| Slc2a1 |
T |
C |
4: 118,993,462 (GRCm39) |
V433A |
probably damaging |
Het |
| Slc4a10 |
T |
C |
2: 62,134,308 (GRCm39) |
V1008A |
possibly damaging |
Het |
| Smarcal1 |
T |
G |
1: 72,625,179 (GRCm39) |
S109A |
probably benign |
Het |
| Speg |
A |
G |
1: 75,377,834 (GRCm39) |
D864G |
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,026,976 (GRCm39) |
I313T |
probably benign |
Het |
| Tab2 |
A |
T |
10: 7,786,869 (GRCm39) |
D614E |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,544,610 (GRCm39) |
K2246E |
probably damaging |
Het |
| Timm23 |
A |
G |
14: 31,902,520 (GRCm39) |
S208P |
probably damaging |
Het |
| Tmem229a |
C |
A |
6: 24,955,211 (GRCm39) |
C181F |
probably benign |
Het |
| Ugdh |
T |
C |
5: 65,574,958 (GRCm39) |
Y356C |
probably damaging |
Het |
| Ugt2a1 |
A |
G |
5: 87,634,586 (GRCm39) |
L7P |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,619,905 (GRCm39) |
D272G |
possibly damaging |
Het |
| Vmn1r206 |
T |
A |
13: 22,804,827 (GRCm39) |
I127F |
probably damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,505,490 (GRCm39) |
Y68C |
possibly damaging |
Het |
| Zfand6 |
G |
A |
7: 84,283,141 (GRCm39) |
P72L |
not run |
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 |
|
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'- CATTGCACCACTCTGGAAGG -3'
(R):5'- TGAGATGGGGCATAACTTGG -3'
Sequencing Primer
(F):5'- CTACACACAGTGCCTGTTTTAAGG -3'
(R):5'- GCATAACTTGGGTATGAAACATGATG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation