Incidental Mutation 'R0960:Adam26a'
| ID |
81828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam26a
|
| Ensembl Gene |
ENSMUSG00000048516 |
| Gene Name |
ADAM metallopeptidase domain 26A |
| Synonyms |
Dtgn4, Adam26 |
| MMRRC Submission |
039089-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0960 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
44021315-44029744 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44021800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 563
(H563Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049577]
|
| AlphaFold |
Q9R158 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049577
AA Change: H563Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058256
Gene: ENSMUSG00000048516
AA Change: H563Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
29 |
147 |
2.1e-18 |
PFAM |
|
Pfam:Reprolysin_5
|
193 |
364 |
4.8e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
194 |
380 |
2.2e-9 |
PFAM |
|
Pfam:Reprolysin
|
195 |
385 |
2.7e-48 |
PFAM |
|
Pfam:Reprolysin_2
|
215 |
377 |
2.4e-16 |
PFAM |
|
Pfam:Reprolysin_3
|
219 |
340 |
1.2e-15 |
PFAM |
|
DISIN
|
401 |
476 |
2.98e-41 |
SMART |
|
ACR
|
477 |
613 |
2.06e-64 |
SMART |
|
transmembrane domain
|
671 |
693 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
98% (49/50) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is expressed in a regulated fashion during the late stages of spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. This gene is located adjacent to two other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,792 (GRCm39) |
V256A |
probably benign |
Het |
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| 4930474N05Rik |
C |
A |
14: 35,818,367 (GRCm39) |
H122N |
probably benign |
Het |
| Aamp |
T |
C |
1: 74,320,304 (GRCm39) |
T341A |
possibly damaging |
Het |
| Ankrd13a |
G |
A |
5: 114,924,868 (GRCm39) |
E118K |
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,913,847 (GRCm39) |
I174V |
probably benign |
Het |
| Atad2b |
G |
A |
12: 5,056,593 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
A |
G |
2: 118,437,161 (GRCm39) |
I120V |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,868,172 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
G |
4: 70,161,745 (GRCm39) |
Y254H |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,479,756 (GRCm39) |
I996T |
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,751,441 (GRCm39) |
I294V |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,441,511 (GRCm39) |
D431G |
probably damaging |
Het |
| Gm4884 |
T |
A |
7: 40,692,232 (GRCm39) |
M67K |
possibly damaging |
Het |
| Hmx3 |
T |
C |
7: 131,145,043 (GRCm39) |
Y118H |
probably benign |
Het |
| Hsf2bp |
C |
T |
17: 32,226,743 (GRCm39) |
R204H |
probably damaging |
Het |
| Il12b |
G |
T |
11: 44,299,315 (GRCm39) |
C128F |
probably damaging |
Het |
| Ints6 |
T |
C |
14: 62,947,015 (GRCm39) |
M317V |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,471,781 (GRCm39) |
E769G |
probably damaging |
Het |
| Kif28 |
G |
A |
1: 179,523,370 (GRCm39) |
Q987* |
probably null |
Het |
| Klhdc3 |
T |
C |
17: 46,987,444 (GRCm39) |
H330R |
possibly damaging |
Het |
| Leo1 |
G |
A |
9: 75,352,522 (GRCm39) |
E22K |
probably benign |
Het |
| Lpcat2 |
C |
T |
8: 93,596,338 (GRCm39) |
T125M |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,132,124 (GRCm39) |
Y742C |
probably benign |
Het |
| Mllt6 |
C |
T |
11: 97,555,772 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
A |
G |
11: 101,952,411 (GRCm39) |
V354A |
possibly damaging |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Myo10 |
A |
G |
15: 25,801,275 (GRCm39) |
E1488G |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,102,995 (GRCm39) |
V4461A |
probably benign |
Het |
| Nudcd1 |
G |
T |
15: 44,291,047 (GRCm39) |
|
probably benign |
Het |
| Or10ag59 |
T |
C |
2: 87,406,279 (GRCm39) |
Y284H |
probably benign |
Het |
| Or2w1b |
A |
C |
13: 21,300,435 (GRCm39) |
D191A |
possibly damaging |
Het |
| Pde1a |
G |
A |
2: 79,695,378 (GRCm39) |
|
probably benign |
Het |
| Sdha |
A |
T |
13: 74,471,303 (GRCm39) |
|
probably benign |
Het |
| Selenoo |
T |
G |
15: 88,980,957 (GRCm39) |
I432S |
probably benign |
Het |
| Sh3gl2 |
A |
T |
4: 85,295,717 (GRCm39) |
I140F |
probably damaging |
Het |
| Svopl |
G |
T |
6: 37,993,992 (GRCm39) |
Y346* |
probably null |
Het |
| Tbc1d17 |
C |
T |
7: 44,497,852 (GRCm39) |
|
probably benign |
Het |
| Tlr3 |
A |
C |
8: 45,850,452 (GRCm39) |
I815S |
probably damaging |
Het |
| Tmem25 |
T |
A |
9: 44,706,809 (GRCm39) |
|
probably null |
Het |
| Tpd52 |
A |
T |
3: 9,008,650 (GRCm39) |
|
probably null |
Het |
| Tspoap1 |
A |
T |
11: 87,661,421 (GRCm39) |
|
probably benign |
Het |
| Txndc11 |
A |
T |
16: 10,909,453 (GRCm39) |
D364E |
probably benign |
Het |
| Unc5cl |
G |
T |
17: 48,766,624 (GRCm39) |
|
probably benign |
Het |
| Vmn1r13 |
A |
G |
6: 57,186,996 (GRCm39) |
M52V |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,818,254 (GRCm39) |
Y314H |
probably damaging |
Het |
|
| Other mutations in Adam26a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Adam26a
|
APN |
8 |
44,021,896 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL00519:Adam26a
|
APN |
8 |
44,022,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00658:Adam26a
|
APN |
8 |
44,021,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01514:Adam26a
|
APN |
8 |
44,021,485 (GRCm39) |
missense |
probably benign |
|
|
IGL01988:Adam26a
|
APN |
8 |
44,022,207 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02030:Adam26a
|
APN |
8 |
44,021,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02081:Adam26a
|
APN |
8 |
44,023,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02444:Adam26a
|
APN |
8 |
44,022,710 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02734:Adam26a
|
APN |
8 |
44,022,812 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03243:Adam26a
|
APN |
8 |
44,021,733 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03350:Adam26a
|
APN |
8 |
44,022,589 (GRCm39) |
nonsense |
probably null |
|
|
R0206:Adam26a
|
UTSW |
8 |
44,023,455 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0206:Adam26a
|
UTSW |
8 |
44,023,455 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0324:Adam26a
|
UTSW |
8 |
44,021,490 (GRCm39) |
missense |
probably benign |
|
|
R0830:Adam26a
|
UTSW |
8 |
44,021,439 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1259:Adam26a
|
UTSW |
8 |
44,021,750 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1259:Adam26a
|
UTSW |
8 |
44,021,684 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1403:Adam26a
|
UTSW |
8 |
44,022,229 (GRCm39) |
nonsense |
probably null |
|
|
R1403:Adam26a
|
UTSW |
8 |
44,022,229 (GRCm39) |
nonsense |
probably null |
|
|
R1719:Adam26a
|
UTSW |
8 |
44,023,073 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1750:Adam26a
|
UTSW |
8 |
44,023,226 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1860:Adam26a
|
UTSW |
8 |
44,022,578 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1861:Adam26a
|
UTSW |
8 |
44,022,578 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1875:Adam26a
|
UTSW |
8 |
44,022,888 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3959:Adam26a
|
UTSW |
8 |
44,022,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4355:Adam26a
|
UTSW |
8 |
44,023,222 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4604:Adam26a
|
UTSW |
8 |
44,023,088 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4612:Adam26a
|
UTSW |
8 |
44,021,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4909:Adam26a
|
UTSW |
8 |
44,023,475 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4937:Adam26a
|
UTSW |
8 |
44,021,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Adam26a
|
UTSW |
8 |
44,021,893 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5276:Adam26a
|
UTSW |
8 |
44,023,457 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5406:Adam26a
|
UTSW |
8 |
44,022,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5501:Adam26a
|
UTSW |
8 |
44,022,941 (GRCm39) |
nonsense |
probably null |
|
|
R5955:Adam26a
|
UTSW |
8 |
44,022,889 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6262:Adam26a
|
UTSW |
8 |
44,022,125 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6847:Adam26a
|
UTSW |
8 |
44,021,465 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6957:Adam26a
|
UTSW |
8 |
44,021,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7053:Adam26a
|
UTSW |
8 |
44,021,836 (GRCm39) |
nonsense |
probably null |
|
|
R7287:Adam26a
|
UTSW |
8 |
44,023,380 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7393:Adam26a
|
UTSW |
8 |
44,022,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7477:Adam26a
|
UTSW |
8 |
44,022,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Adam26a
|
UTSW |
8 |
44,023,007 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7670:Adam26a
|
UTSW |
8 |
44,023,190 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7918:Adam26a
|
UTSW |
8 |
44,022,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8193:Adam26a
|
UTSW |
8 |
44,022,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8262:Adam26a
|
UTSW |
8 |
44,022,178 (GRCm39) |
nonsense |
probably null |
|
|
R8987:Adam26a
|
UTSW |
8 |
44,022,358 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9104:Adam26a
|
UTSW |
8 |
44,023,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9350:Adam26a
|
UTSW |
8 |
44,022,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9487:Adam26a
|
UTSW |
8 |
44,022,456 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9550:Adam26a
|
UTSW |
8 |
44,022,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Adam26a
|
UTSW |
8 |
44,021,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Adam26a
|
UTSW |
8 |
44,022,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGTGACACCACAATGGCAG -3'
(R):5'- TCAACGTGATGAGCAGTGTCGG -3'
Sequencing Primer
(F):5'- ACTGTGGTGAACAGTTACTTACCAG -3'
(R):5'- ATTTTTGGCAATGGAAGTAGAAGTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation