Incidental Mutation 'R4027:Adam26b'
ID |
313037 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam26b
|
Ensembl Gene |
ENSMUSG00000063900 |
Gene Name |
a disintegrin and metallopeptidase domain 26B |
Synonyms |
|
MMRRC Submission |
040850-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R4027 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
43972901-43981174 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43973409 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 531
(N531S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079032
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080135]
|
AlphaFold |
Q6IMH6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080135
AA Change: N531S
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000079032 Gene: ENSMUSG00000063900 AA Change: N531S
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
97% (60/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
A |
G |
2: 35,270,408 (GRCm39) |
F98L |
probably damaging |
Het |
Ahdc1 |
T |
C |
4: 132,791,476 (GRCm39) |
S906P |
possibly damaging |
Het |
Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
Ano10 |
A |
G |
9: 122,081,994 (GRCm39) |
|
probably benign |
Het |
Atp4a |
T |
C |
7: 30,424,377 (GRCm39) |
|
probably null |
Het |
C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
Carmil1 |
T |
A |
13: 24,251,206 (GRCm39) |
|
probably benign |
Het |
Ccl2 |
A |
G |
11: 81,927,885 (GRCm39) |
R110G |
probably benign |
Het |
Cntnap2 |
C |
A |
6: 46,833,062 (GRCm39) |
F758L |
probably benign |
Het |
Cog6 |
A |
C |
3: 52,909,950 (GRCm39) |
D267E |
possibly damaging |
Het |
Cyp4f37 |
G |
T |
17: 32,850,646 (GRCm39) |
E366D |
probably benign |
Het |
Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
Dpep1 |
T |
C |
8: 123,920,892 (GRCm39) |
V24A |
probably benign |
Het |
Eefsec |
T |
C |
6: 88,353,232 (GRCm39) |
I48V |
probably benign |
Het |
Elmo2 |
G |
A |
2: 165,136,169 (GRCm39) |
Q195* |
probably null |
Het |
Ephb3 |
A |
G |
16: 21,040,447 (GRCm39) |
D561G |
probably damaging |
Het |
Erich2 |
C |
A |
2: 70,343,134 (GRCm39) |
|
probably benign |
Het |
Gatm |
A |
G |
2: 122,427,927 (GRCm39) |
V362A |
probably damaging |
Het |
Gdf10 |
A |
G |
14: 33,654,572 (GRCm39) |
M360V |
probably damaging |
Het |
Gpr141 |
T |
C |
13: 19,935,995 (GRCm39) |
N260S |
probably benign |
Het |
Hectd1 |
T |
A |
12: 51,849,219 (GRCm39) |
|
probably null |
Het |
Insrr |
A |
G |
3: 87,716,906 (GRCm39) |
E682G |
probably benign |
Het |
Itgax |
A |
G |
7: 127,740,438 (GRCm39) |
I742V |
possibly damaging |
Het |
Kcnh1 |
T |
C |
1: 191,959,007 (GRCm39) |
V187A |
probably benign |
Het |
Kdm6b |
G |
T |
11: 69,297,094 (GRCm39) |
S419R |
possibly damaging |
Het |
Kmt2a |
A |
T |
9: 44,747,990 (GRCm39) |
|
probably benign |
Het |
Krt10 |
A |
G |
11: 99,277,019 (GRCm39) |
|
probably benign |
Het |
Lct |
G |
A |
1: 128,212,918 (GRCm39) |
R1912C |
probably benign |
Het |
Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
Mast3 |
A |
G |
8: 71,240,552 (GRCm39) |
L279P |
probably damaging |
Het |
Mfsd4b3-ps |
T |
C |
10: 39,823,343 (GRCm39) |
T306A |
probably benign |
Het |
Mgam |
G |
A |
6: 40,731,836 (GRCm39) |
R1351Q |
probably damaging |
Het |
Mknk1 |
T |
A |
4: 115,721,758 (GRCm39) |
F101I |
probably damaging |
Het |
Mlc1 |
T |
C |
15: 88,850,697 (GRCm39) |
I154V |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,892,311 (GRCm39) |
I1685T |
possibly damaging |
Het |
Nacc2 |
T |
A |
2: 25,950,348 (GRCm39) |
M463L |
probably benign |
Het |
Nek11 |
A |
C |
9: 105,121,589 (GRCm39) |
Y443* |
probably null |
Het |
Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
Nova1 |
A |
G |
12: 46,863,801 (GRCm39) |
|
probably benign |
Het |
Or52h9 |
A |
T |
7: 104,202,530 (GRCm39) |
I135F |
possibly damaging |
Het |
Parp10 |
A |
G |
15: 76,125,354 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
Plce1 |
T |
C |
19: 38,512,709 (GRCm39) |
S3P |
probably damaging |
Het |
Pnldc1 |
T |
C |
17: 13,109,666 (GRCm39) |
D400G |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,496,252 (GRCm39) |
R1141H |
possibly damaging |
Het |
Prmt6 |
A |
G |
3: 110,157,257 (GRCm39) |
I344T |
probably damaging |
Het |
Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
Ranbp17 |
C |
T |
11: 33,450,718 (GRCm39) |
R73Q |
possibly damaging |
Het |
Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
Tecpr1 |
C |
A |
5: 144,143,077 (GRCm39) |
A735S |
probably benign |
Het |
Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
Vldlr |
A |
G |
19: 27,215,713 (GRCm39) |
T237A |
probably benign |
Het |
Vmn1r74 |
C |
A |
7: 11,580,898 (GRCm39) |
T66K |
probably damaging |
Het |
Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,943,672 (GRCm39) |
V239I |
probably benign |
Het |
Zmym5 |
T |
A |
14: 57,035,268 (GRCm39) |
T267S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTCCAATATCATCTATGGTGATCC -3'
(R):5'- CTTCCAGAGTGGTGCAATGG -3'
Sequencing Primer
(F):5'- TGGTGATCCCAAAATGATAGTCC -3'
(R):5'- AACTTCAGCTGAGTGTCCAG -3'
|
Posted On |
2015-04-30 |