Incidental Mutation 'IGL01988:Adam26a'
ID |
181979 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adam26a
|
Ensembl Gene |
ENSMUSG00000048516 |
Gene Name |
ADAM metallopeptidase domain 26A |
Synonyms |
Dtgn4, Adam26 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01988
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
44021315-44029744 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 44022207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 428
(P428S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049577]
|
AlphaFold |
Q9R158 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049577
AA Change: P428S
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000058256 Gene: ENSMUSG00000048516 AA Change: P428S
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
A |
10: 29,101,107 (GRCm39) |
S493R |
probably benign |
Het |
Abca17 |
T |
C |
17: 24,553,229 (GRCm39) |
N161D |
probably damaging |
Het |
Ace2 |
C |
A |
X: 162,946,988 (GRCm39) |
N290K |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,705,428 (GRCm39) |
R1461G |
probably damaging |
Het |
Arhgef10l |
T |
C |
4: 140,305,672 (GRCm39) |
|
probably benign |
Het |
Bicc1 |
A |
G |
10: 70,792,006 (GRCm39) |
V334A |
probably damaging |
Het |
C8a |
T |
C |
4: 104,683,891 (GRCm39) |
Y408C |
probably damaging |
Het |
Col24a1 |
T |
C |
3: 145,229,922 (GRCm39) |
|
probably null |
Het |
Copa |
T |
A |
1: 171,945,831 (GRCm39) |
N931K |
probably benign |
Het |
Cr1l |
A |
G |
1: 194,799,858 (GRCm39) |
M272T |
probably damaging |
Het |
Dcaf12 |
T |
C |
4: 41,298,299 (GRCm39) |
N283S |
probably benign |
Het |
Dnttip2 |
T |
A |
3: 122,069,944 (GRCm39) |
S386R |
probably benign |
Het |
Fbll1 |
G |
T |
11: 35,688,728 (GRCm39) |
D178E |
probably benign |
Het |
Fgd6 |
A |
G |
10: 93,910,197 (GRCm39) |
|
probably benign |
Het |
Fyn |
T |
A |
10: 39,409,917 (GRCm39) |
L408* |
probably null |
Het |
Gkn2 |
T |
C |
6: 87,356,257 (GRCm39) |
V176A |
probably benign |
Het |
Gm10764 |
G |
A |
10: 87,126,953 (GRCm39) |
C120Y |
unknown |
Het |
Gpr19 |
A |
T |
6: 134,846,247 (GRCm39) |
F442I |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,395,357 (GRCm39) |
|
probably benign |
Het |
Il7 |
A |
G |
3: 7,669,126 (GRCm39) |
Y37H |
possibly damaging |
Het |
Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
Kif1c |
A |
G |
11: 70,595,762 (GRCm39) |
D156G |
probably damaging |
Het |
Lrch1 |
T |
C |
14: 75,032,813 (GRCm39) |
|
probably benign |
Het |
Nedd1 |
G |
T |
10: 92,550,021 (GRCm39) |
T88K |
probably benign |
Het |
Nlrc3 |
T |
G |
16: 3,771,803 (GRCm39) |
S875R |
probably benign |
Het |
Optc |
A |
G |
1: 133,834,667 (GRCm39) |
|
probably null |
Het |
Or4a78 |
T |
A |
2: 89,497,424 (GRCm39) |
I269F |
probably benign |
Het |
Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
Pde1b |
A |
G |
15: 103,433,283 (GRCm39) |
|
probably null |
Het |
Phf11a |
A |
T |
14: 59,514,807 (GRCm39) |
D291E |
probably damaging |
Het |
Slc30a8 |
A |
T |
15: 52,198,601 (GRCm39) |
I349L |
probably benign |
Het |
Spty2d1 |
T |
A |
7: 46,647,358 (GRCm39) |
S524C |
probably damaging |
Het |
Syndig1 |
T |
C |
2: 149,845,090 (GRCm39) |
|
probably benign |
Het |
Syvn1 |
G |
A |
19: 6,102,437 (GRCm39) |
A502T |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,918,078 (GRCm39) |
L1894P |
probably damaging |
Het |
Tmem176a |
T |
A |
6: 48,819,554 (GRCm39) |
V11E |
possibly damaging |
Het |
Tpr |
G |
T |
1: 150,302,750 (GRCm39) |
|
probably null |
Het |
Txnrd2 |
T |
C |
16: 18,274,768 (GRCm39) |
|
probably benign |
Het |
Ubqln3 |
G |
A |
7: 103,792,089 (GRCm39) |
|
probably benign |
Het |
Vmn1r6 |
C |
T |
6: 56,979,650 (GRCm39) |
T82I |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,798,437 (GRCm39) |
E1990K |
possibly damaging |
Het |
Zdhhc7 |
T |
C |
8: 120,809,329 (GRCm39) |
R293G |
probably benign |
Het |
Zeb1 |
T |
A |
18: 5,759,037 (GRCm39) |
L148* |
probably null |
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 |
|
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 |
R0960:Adam26a
|
UTSW |
8 |
44,021,800 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2014-05-07 |