Incidental Mutation 'R9075:Adam26b'
| ID |
689736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam26b
|
| Ensembl Gene |
ENSMUSG00000063900 |
| Gene Name |
a disintegrin and metallopeptidase domain 26B |
| Synonyms |
|
| MMRRC Submission |
068896-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R9075 (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 43973405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 532
(D532E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080135]
|
| AlphaFold |
Q6IMH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080135
AA Change: D532E
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000079032
Gene: ENSMUSG00000063900
AA Change: D532E
| 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: 99.0%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
G |
1: 120,097,014 (GRCm39) |
S137A |
|
Het |
| Actl6a |
G |
T |
3: 32,769,641 (GRCm39) |
C152F |
possibly damaging |
Het |
| Adamts6 |
A |
G |
13: 104,598,793 (GRCm39) |
N878S |
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,975,597 (GRCm39) |
S387P |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,153,541 (GRCm39) |
S2350P |
probably damaging |
Het |
| Cdh4 |
A |
G |
2: 179,501,940 (GRCm39) |
D300G |
probably damaging |
Het |
| Cngb1 |
T |
C |
8: 95,979,993 (GRCm39) |
Y969C |
probably damaging |
Het |
| Cog8 |
C |
T |
8: 107,779,208 (GRCm39) |
M356I |
probably damaging |
Het |
| Fam168a |
T |
A |
7: 100,484,582 (GRCm39) |
V224D |
probably damaging |
Het |
| Fam210a |
C |
T |
18: 68,405,693 (GRCm39) |
V177M |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,447,646 (GRCm39) |
I1150F |
probably damaging |
Het |
| Frmd4a |
G |
T |
2: 4,608,765 (GRCm39) |
G878W |
probably damaging |
Het |
| Gm11555 |
C |
T |
11: 99,540,694 (GRCm39) |
C95Y |
|
Het |
| Gns |
A |
G |
10: 121,226,542 (GRCm39) |
N397S |
probably benign |
Het |
| Grin2b |
CA |
C |
6: 135,709,509 (GRCm39) |
|
probably null |
Het |
| Ifi204 |
T |
A |
1: 173,589,282 (GRCm39) |
N50Y |
possibly damaging |
Het |
| Iqub |
T |
A |
6: 24,446,124 (GRCm39) |
I767F |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,857,588 (GRCm39) |
L3087Q |
probably damaging |
Het |
| Mars2 |
A |
G |
1: 55,278,154 (GRCm39) |
T586A |
probably damaging |
Het |
| Mrps28 |
G |
T |
3: 8,867,312 (GRCm39) |
S185R |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,591,905 (GRCm39) |
Y363H |
probably damaging |
Het |
| Nploc4 |
T |
C |
11: 120,304,526 (GRCm39) |
T232A |
possibly damaging |
Het |
| Pate3 |
A |
G |
9: 35,557,893 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
G |
A |
3: 49,699,339 (GRCm39) |
A1041V |
probably benign |
Het |
| Plpp5 |
T |
A |
8: 26,210,379 (GRCm39) |
Y50N |
probably benign |
Het |
| Ppp4r4 |
G |
T |
12: 103,570,290 (GRCm39) |
G755* |
probably null |
Het |
| Psmd14 |
T |
A |
2: 61,607,021 (GRCm39) |
V156D |
probably damaging |
Het |
| Ptch1 |
G |
A |
13: 63,681,335 (GRCm39) |
R651C |
possibly damaging |
Het |
| Rai14 |
T |
C |
15: 10,589,403 (GRCm39) |
E265G |
probably damaging |
Het |
| Rbmx |
G |
A |
X: 56,432,717 (GRCm39) |
P301L |
probably benign |
Het |
| Rimbp2 |
T |
A |
5: 128,851,312 (GRCm39) |
D878V |
probably damaging |
Het |
| Sarm1 |
T |
C |
11: 78,374,023 (GRCm39) |
K668R |
probably benign |
Het |
| Slc10a2 |
C |
A |
8: 5,155,267 (GRCm39) |
|
probably benign |
Het |
| Slc15a3 |
T |
C |
19: 10,826,094 (GRCm39) |
S262P |
probably damaging |
Het |
| Slf2 |
T |
C |
19: 44,930,860 (GRCm39) |
Y646H |
probably damaging |
Het |
| Smpd4 |
C |
T |
16: 17,457,849 (GRCm39) |
P406S |
unknown |
Het |
| Sv2b |
A |
G |
7: 74,789,845 (GRCm39) |
V396A |
possibly damaging |
Het |
| Swt1 |
A |
G |
1: 151,246,245 (GRCm39) |
|
probably benign |
Het |
| Sympk |
A |
G |
7: 18,776,563 (GRCm39) |
E485G |
probably benign |
Het |
| Tbc1d9 |
T |
C |
8: 83,982,501 (GRCm39) |
V762A |
probably benign |
Het |
| Thbs2 |
T |
A |
17: 14,900,587 (GRCm39) |
H540L |
probably benign |
Het |
| Tie1 |
C |
A |
4: 118,341,356 (GRCm39) |
G275V |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,754,259 (GRCm39) |
Y998C |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,040,130 (GRCm39) |
V607E |
possibly damaging |
Het |
| Trim69 |
A |
T |
2: 122,009,264 (GRCm39) |
R441S |
probably benign |
Het |
| Trio |
G |
T |
15: 27,774,022 (GRCm39) |
S1814* |
probably null |
Het |
| Vmn1r192 |
C |
T |
13: 22,371,333 (GRCm39) |
V296I |
probably benign |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,600 (GRCm39) |
S65G |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r41 |
A |
G |
7: 8,141,250 (GRCm39) |
V738A |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,476,065 (GRCm39) |
V363A |
possibly damaging |
Het |
| Zfp583 |
A |
T |
7: 6,319,870 (GRCm39) |
C381S |
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 |
|
|
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 |
|
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'- TCCAATATCATCTATGGTGATCCC -3'
(R):5'- CCTTCCAGAGTGGTGCAATG -3'
Sequencing Primer
(F):5'- TGGTGATCCCAAAATGATAGTCC -3'
(R):5'- AACTTCAGCTGAGTGTCCAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation