Incidental Mutation 'R7634:Adam26b'
| ID |
589818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam26b
|
| Ensembl Gene |
ENSMUSG00000063900 |
| Gene Name |
a disintegrin and metallopeptidase domain 26B |
| Synonyms |
|
| MMRRC Submission |
045693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R7634 (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 43974034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 323
(M323L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080135]
|
| AlphaFold |
Q6IMH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080135
AA Change: M323L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079032
Gene: ENSMUSG00000063900
AA Change: M323L
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
T |
8: 60,969,102 (GRCm39) |
M116L |
probably benign |
Het |
| Adam25 |
A |
G |
8: 41,207,883 (GRCm39) |
D383G |
probably benign |
Het |
| Adgrf3 |
T |
C |
5: 30,407,245 (GRCm39) |
H227R |
probably benign |
Het |
| Antxr1 |
G |
A |
6: 87,114,273 (GRCm39) |
T498I |
probably benign |
Het |
| Arg1 |
T |
A |
10: 24,791,627 (GRCm39) |
T285S |
possibly damaging |
Het |
| Arhgdig |
T |
C |
17: 26,418,365 (GRCm39) |
D206G |
probably damaging |
Het |
| Asb10 |
C |
A |
5: 24,745,875 (GRCm39) |
C17F |
possibly damaging |
Het |
| Atg2b |
T |
C |
12: 105,618,379 (GRCm39) |
D891G |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,611,083 (GRCm39) |
S572T |
possibly damaging |
Het |
| Cenpj |
T |
C |
14: 56,780,257 (GRCm39) |
T985A |
probably benign |
Het |
| Cfap65 |
G |
T |
1: 74,941,593 (GRCm39) |
N1780K |
probably damaging |
Het |
| Cyp26c1 |
T |
C |
19: 37,681,447 (GRCm39) |
Y417H |
probably damaging |
Het |
| Dnajb13 |
G |
T |
7: 100,152,393 (GRCm39) |
Q308K |
probably benign |
Het |
| Fam107b |
T |
C |
2: 3,771,777 (GRCm39) |
S3P |
possibly damaging |
Het |
| Gm3127 |
A |
G |
14: 15,425,787 (GRCm39) |
N64S |
probably damaging |
Het |
| Gm4847 |
A |
C |
1: 166,460,249 (GRCm39) |
N412K |
probably benign |
Het |
| Gtf3c3 |
A |
T |
1: 54,458,800 (GRCm39) |
|
probably null |
Het |
| Guf1 |
T |
C |
5: 69,721,887 (GRCm39) |
S349P |
probably damaging |
Het |
| Hvcn1 |
A |
G |
5: 122,371,586 (GRCm39) |
Y42C |
probably damaging |
Het |
| Insm1 |
A |
G |
2: 146,065,027 (GRCm39) |
Y281C |
probably damaging |
Het |
| Lrrc71 |
A |
G |
3: 87,650,281 (GRCm39) |
I264T |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,036,462 (GRCm39) |
N897S |
probably damaging |
Het |
| Mtmr6 |
T |
A |
14: 60,533,596 (GRCm39) |
F375I |
probably damaging |
Het |
| Mtor |
G |
C |
4: 148,536,807 (GRCm39) |
S27T |
possibly damaging |
Het |
| Mylk4 |
T |
A |
13: 32,892,891 (GRCm39) |
K387N |
possibly damaging |
Het |
| Nadk2 |
T |
G |
15: 9,092,935 (GRCm39) |
D247E |
probably benign |
Het |
| Nfya |
T |
C |
17: 48,699,445 (GRCm39) |
T213A |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,990,354 (GRCm39) |
V1067A |
probably benign |
Het |
| Nrbp2 |
C |
T |
15: 75,959,257 (GRCm39) |
R206Q |
possibly damaging |
Het |
| Oas2 |
A |
G |
5: 120,871,293 (GRCm39) |
V722A |
probably benign |
Het |
| Odad4 |
G |
A |
11: 100,452,731 (GRCm39) |
|
probably null |
Het |
| Or4c108 |
G |
T |
2: 88,804,001 (GRCm39) |
P78Q |
probably damaging |
Het |
| Pcdhb2 |
G |
T |
18: 37,428,000 (GRCm39) |
|
probably benign |
Het |
| Pdpr |
T |
A |
8: 111,852,317 (GRCm39) |
H561Q |
probably damaging |
Het |
| Plcz1 |
A |
G |
6: 139,961,853 (GRCm39) |
F233L |
probably damaging |
Het |
| Ppp1r3d |
A |
G |
2: 178,055,165 (GRCm39) |
I279T |
probably damaging |
Het |
| Psg17 |
A |
G |
7: 18,548,416 (GRCm39) |
Y452H |
probably damaging |
Het |
| Reg4 |
T |
C |
3: 98,140,428 (GRCm39) |
|
probably null |
Het |
| Rint1 |
A |
G |
5: 24,010,477 (GRCm39) |
T229A |
probably benign |
Het |
| Robo1 |
T |
G |
16: 72,839,866 (GRCm39) |
|
probably null |
Het |
| Slc22a26 |
A |
C |
19: 7,779,952 (GRCm39) |
|
probably null |
Het |
| Slc22a7 |
C |
T |
17: 46,749,156 (GRCm39) |
A54T |
probably benign |
Het |
| Slc52a3 |
C |
A |
2: 151,846,534 (GRCm39) |
T165N |
possibly damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,378,486 (GRCm39) |
|
probably null |
Het |
| Smap2 |
T |
C |
4: 120,873,996 (GRCm39) |
N18S |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,595,278 (GRCm39) |
E369G |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,760 (GRCm39) |
Y445N |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmprss7 |
C |
T |
16: 45,483,637 (GRCm39) |
G579D |
probably benign |
Het |
| Tpi1 |
T |
A |
6: 124,789,817 (GRCm39) |
K109* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,628,856 (GRCm39) |
E14466G |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,890,152 (GRCm39) |
C903* |
probably null |
Het |
| Vinac1 |
T |
A |
2: 128,880,192 (GRCm39) |
D578V |
|
Het |
| Vmn2r104 |
T |
A |
17: 20,261,971 (GRCm39) |
L386F |
possibly damaging |
Het |
| Vmn2r54 |
G |
A |
7: 12,349,630 (GRCm39) |
P651S |
probably damaging |
Het |
| Wnk4 |
C |
A |
11: 101,153,721 (GRCm39) |
T261K |
probably damaging |
Het |
| Wnt2b |
T |
C |
3: 104,854,432 (GRCm39) |
Y342C |
probably damaging |
Het |
| Zbtb8b |
A |
G |
4: 129,326,755 (GRCm39) |
Y137H |
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 |
|
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 |
|
|
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'- TTATTCCCACACACGGTCAGG -3'
(R):5'- GGTGATTTCTGTACTTGGAAGCAAAAC -3'
Sequencing Primer
(F):5'- CACACACGGTCAGGTTTGTTACTAG -3'
(R):5'- CATGTTTGGCAATCGCATTAGAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation