Incidental Mutation 'IGL02125:Adam29'
| ID |
280795 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam29
|
| Ensembl Gene |
ENSMUSG00000046258 |
| Gene Name |
a disintegrin and metallopeptidase domain 29 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL02125
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
56323947-56359983 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 56324974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 493
(C493*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053441]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053441
AA Change: C493*
|
| SMART Domains |
Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: C493*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
33 |
159 |
1.9e-17 |
PFAM |
|
Pfam:Reprolysin_4
|
203 |
394 |
3.3e-10 |
PFAM |
|
Pfam:Reprolysin_5
|
203 |
403 |
6.9e-15 |
PFAM |
|
Pfam:Reprolysin
|
205 |
395 |
1.5e-48 |
PFAM |
|
Pfam:Reprolysin_2
|
226 |
386 |
7.4e-11 |
PFAM |
|
Pfam:Reprolysin_3
|
228 |
349 |
1.4e-11 |
PFAM |
|
DISIN
|
412 |
487 |
4.26e-37 |
SMART |
|
ACR
|
488 |
624 |
2.85e-58 |
SMART |
|
low complexity region
|
642 |
651 |
N/A |
INTRINSIC |
|
transmembrane domain
|
683 |
705 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
746 |
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. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,277,139 (GRCm39) |
|
probably benign |
Het |
| Anxa5 |
G |
A |
3: 36,506,413 (GRCm39) |
T213I |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,798,984 (GRCm39) |
L380S |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cacna2d2 |
C |
T |
9: 107,391,103 (GRCm39) |
Q411* |
probably null |
Het |
| Cdh19 |
A |
G |
1: 110,857,614 (GRCm39) |
V240A |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,595,636 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
T |
A |
9: 111,298,175 (GRCm39) |
V573E |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,091,834 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,084,131 (GRCm39) |
L918P |
possibly damaging |
Het |
| Dzip3 |
A |
T |
16: 48,747,959 (GRCm39) |
N1150K |
probably damaging |
Het |
| Fgf5 |
T |
C |
5: 98,402,391 (GRCm39) |
S41P |
possibly damaging |
Het |
| Galc |
A |
T |
12: 98,197,768 (GRCm39) |
Y120N |
probably damaging |
Het |
| Gldc |
T |
C |
19: 30,124,641 (GRCm39) |
N219S |
probably benign |
Het |
| Gm11563 |
A |
T |
11: 99,549,631 (GRCm39) |
V41E |
unknown |
Het |
| Gpatch11 |
T |
A |
17: 79,147,538 (GRCm39) |
N106K |
probably benign |
Het |
| Gpx3 |
A |
G |
11: 54,798,068 (GRCm39) |
N68S |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,617,123 (GRCm39) |
N150D |
probably damaging |
Het |
| Iglc2 |
G |
A |
16: 19,017,462 (GRCm39) |
P48S |
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,245,798 (GRCm39) |
R629H |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,388,067 (GRCm39) |
V552E |
possibly damaging |
Het |
| Kmt2a |
T |
A |
9: 44,759,983 (GRCm39) |
H655L |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,256,070 (GRCm39) |
N510I |
probably damaging |
Het |
| Mrtfb |
A |
G |
16: 13,218,047 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
T |
11: 58,984,152 (GRCm39) |
Q1768K |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,913,188 (GRCm39) |
I6943T |
probably damaging |
Het |
| Or51k2 |
T |
A |
7: 103,596,279 (GRCm39) |
C169S |
probably damaging |
Het |
| Or5ac25 |
T |
C |
16: 59,181,879 (GRCm39) |
N234S |
probably benign |
Het |
| Otud3 |
A |
T |
4: 138,624,025 (GRCm39) |
|
probably null |
Het |
| Parp4 |
A |
G |
14: 56,827,959 (GRCm39) |
K237E |
probably benign |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Pttg1ip2 |
T |
C |
5: 5,500,644 (GRCm39) |
*151W |
probably null |
Het |
| Rbbp6 |
T |
C |
7: 122,570,352 (GRCm39) |
|
probably null |
Het |
| Rdh16 |
G |
T |
10: 127,647,188 (GRCm39) |
|
probably benign |
Het |
| Ropn1 |
A |
G |
16: 34,487,147 (GRCm39) |
T28A |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,152,607 (GRCm39) |
V873A |
probably damaging |
Het |
| Serpinb3b |
T |
A |
1: 107,082,474 (GRCm39) |
L263F |
probably damaging |
Het |
| Shq1 |
T |
C |
6: 100,607,967 (GRCm39) |
T315A |
probably benign |
Het |
| Slc13a4 |
T |
C |
6: 35,255,223 (GRCm39) |
E355G |
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,687,175 (GRCm39) |
S445P |
probably damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,098,515 (GRCm39) |
M550L |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,815,419 (GRCm39) |
N871S |
possibly damaging |
Het |
| Syt17 |
T |
C |
7: 118,009,197 (GRCm39) |
D341G |
probably benign |
Het |
| Tmem62 |
A |
G |
2: 120,826,993 (GRCm39) |
Y430C |
probably benign |
Het |
| Upp1 |
A |
G |
11: 9,075,650 (GRCm39) |
|
probably benign |
Het |
| Vmn1r91 |
T |
G |
7: 19,835,429 (GRCm39) |
V116G |
probably damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,963 (GRCm39) |
I250F |
possibly damaging |
Het |
| Vmn2r116 |
T |
G |
17: 23,616,601 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
C |
T |
7: 85,399,919 (GRCm39) |
V377I |
probably benign |
Het |
| Zfp592 |
G |
T |
7: 80,687,932 (GRCm39) |
A953S |
probably benign |
Het |
|
| Other mutations in Adam29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Adam29
|
APN |
8 |
56,324,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01406:Adam29
|
APN |
8 |
56,324,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:Adam29
|
APN |
8 |
56,324,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01869:Adam29
|
APN |
8 |
56,324,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01894:Adam29
|
APN |
8 |
56,324,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02023:Adam29
|
APN |
8 |
56,325,519 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02030:Adam29
|
APN |
8 |
56,325,157 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02071:Adam29
|
APN |
8 |
56,324,589 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02094:Adam29
|
APN |
8 |
56,324,480 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02108:Adam29
|
APN |
8 |
56,325,346 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02330:Adam29
|
APN |
8 |
56,325,398 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02332:Adam29
|
APN |
8 |
56,324,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02548:Adam29
|
APN |
8 |
56,325,902 (GRCm39) |
nonsense |
probably null |
|
|
IGL02960:Adam29
|
APN |
8 |
56,325,701 (GRCm39) |
nonsense |
probably null |
|
|
IGL03030:Adam29
|
APN |
8 |
56,326,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU22:Adam29
|
UTSW |
8 |
56,324,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
D4043:Adam29
|
UTSW |
8 |
56,325,496 (GRCm39) |
nonsense |
probably null |
|
|
IGL02835:Adam29
|
UTSW |
8 |
56,326,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Adam29
|
UTSW |
8 |
56,326,311 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0449:Adam29
|
UTSW |
8 |
56,325,716 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0607:Adam29
|
UTSW |
8 |
56,326,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Adam29
|
UTSW |
8 |
56,324,612 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1296:Adam29
|
UTSW |
8 |
56,324,754 (GRCm39) |
nonsense |
probably null |
|
|
R1752:Adam29
|
UTSW |
8 |
56,325,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1930:Adam29
|
UTSW |
8 |
56,326,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Adam29
|
UTSW |
8 |
56,326,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2397:Adam29
|
UTSW |
8 |
56,325,933 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2764:Adam29
|
UTSW |
8 |
56,324,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4052:Adam29
|
UTSW |
8 |
56,325,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4978:Adam29
|
UTSW |
8 |
56,324,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5306:Adam29
|
UTSW |
8 |
56,324,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Adam29
|
UTSW |
8 |
56,324,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6528:Adam29
|
UTSW |
8 |
56,325,596 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6579:Adam29
|
UTSW |
8 |
56,325,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6707:Adam29
|
UTSW |
8 |
56,325,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7076:Adam29
|
UTSW |
8 |
56,324,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7099:Adam29
|
UTSW |
8 |
56,324,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7177:Adam29
|
UTSW |
8 |
56,325,659 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7320:Adam29
|
UTSW |
8 |
56,325,749 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7420:Adam29
|
UTSW |
8 |
56,325,933 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7438:Adam29
|
UTSW |
8 |
56,324,609 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7476:Adam29
|
UTSW |
8 |
56,326,230 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7524:Adam29
|
UTSW |
8 |
56,325,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8066:Adam29
|
UTSW |
8 |
56,325,703 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8111:Adam29
|
UTSW |
8 |
56,324,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8221:Adam29
|
UTSW |
8 |
56,325,463 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8350:Adam29
|
UTSW |
8 |
56,325,224 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8353:Adam29
|
UTSW |
8 |
56,326,196 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8453:Adam29
|
UTSW |
8 |
56,326,196 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8723:Adam29
|
UTSW |
8 |
56,324,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Adam29
|
UTSW |
8 |
56,325,328 (GRCm39) |
nonsense |
probably null |
|
|
R8809:Adam29
|
UTSW |
8 |
56,325,659 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9025:Adam29
|
UTSW |
8 |
56,325,196 (GRCm39) |
nonsense |
probably null |
|
|
R9388:Adam29
|
UTSW |
8 |
56,325,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Adam29
|
UTSW |
8 |
56,325,118 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
X0011:Adam29
|
UTSW |
8 |
56,326,203 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Adam29
|
UTSW |
8 |
56,324,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation