Incidental Mutation 'ANU22:Adam29'
ID |
262586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam29
|
Ensembl Gene |
ENSMUSG00000046258 |
Gene Name |
a disintegrin and metallopeptidase domain 29 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
ANU22
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
56323947-56359983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 56324879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 525
(H525L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054292
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053441]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053441
AA Change: H525L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000054292 Gene: ENSMUSG00000046258 AA Change: H525L
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 |
- 1x: 98.7%
- 3x: 98.1%
- 10x: 96.2%
- 20x: 92.5%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
A |
G |
15: 81,797,915 (GRCm39) |
E663G |
possibly damaging |
Het |
Adamts2 |
A |
G |
11: 50,628,190 (GRCm39) |
N297D |
probably benign |
Het |
Adamts6 |
T |
A |
13: 104,526,590 (GRCm39) |
V506E |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,655,617 (GRCm39) |
E1101K |
probably damaging |
Het |
Arap3 |
C |
T |
18: 38,124,380 (GRCm39) |
|
probably null |
Het |
Asxl3 |
T |
A |
18: 22,649,503 (GRCm39) |
H497Q |
probably benign |
Het |
Caln1 |
A |
G |
5: 130,698,392 (GRCm39) |
E96G |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,148,403 (GRCm39) |
T2653A |
probably damaging |
Het |
Cdk5rap2 |
T |
A |
4: 70,298,472 (GRCm39) |
I87F |
possibly damaging |
Het |
Crybg3 |
T |
A |
16: 59,349,590 (GRCm39) |
H934L |
probably damaging |
Het |
Cyp2d22 |
G |
A |
15: 82,255,869 (GRCm39) |
T461I |
probably damaging |
Het |
Dhcr24 |
T |
C |
4: 106,429,475 (GRCm39) |
F183L |
possibly damaging |
Het |
Dusp16 |
A |
T |
6: 134,695,824 (GRCm39) |
S336T |
probably benign |
Het |
F930017D23Rik |
T |
G |
10: 43,480,371 (GRCm39) |
|
noncoding transcript |
Het |
Fasl |
A |
G |
1: 161,609,407 (GRCm39) |
V193A |
probably damaging |
Het |
Fgf5 |
T |
C |
5: 98,423,175 (GRCm39) |
Y187H |
probably damaging |
Het |
Focad |
C |
A |
4: 88,311,784 (GRCm39) |
Q1423K |
probably benign |
Het |
Gabrp |
T |
C |
11: 33,505,055 (GRCm39) |
T249A |
probably damaging |
Het |
Galnt5 |
A |
T |
2: 57,915,354 (GRCm39) |
K637* |
probably null |
Het |
Grm6 |
A |
T |
11: 50,750,346 (GRCm39) |
D503V |
probably benign |
Het |
Hmg20a |
A |
T |
9: 56,394,934 (GRCm39) |
D216V |
probably damaging |
Het |
Lyst |
C |
T |
13: 13,852,641 (GRCm39) |
R2214C |
probably benign |
Het |
Micu2 |
T |
A |
14: 58,181,082 (GRCm39) |
D184V |
probably damaging |
Het |
Nabp2 |
T |
A |
10: 128,244,631 (GRCm39) |
I52F |
probably damaging |
Het |
Nat8f7 |
A |
T |
6: 85,684,570 (GRCm39) |
L90* |
probably null |
Het |
Or2z2 |
A |
T |
11: 58,346,088 (GRCm39) |
M229K |
probably damaging |
Het |
Or4k47 |
T |
C |
2: 111,451,546 (GRCm39) |
N291S |
probably damaging |
Het |
Pphln1 |
A |
G |
15: 93,386,985 (GRCm39) |
E273G |
probably damaging |
Het |
Ppil1 |
C |
A |
17: 29,482,862 (GRCm39) |
V14F |
possibly damaging |
Het |
Ptprd |
C |
A |
4: 76,018,693 (GRCm39) |
D694Y |
probably damaging |
Het |
Relt |
A |
T |
7: 100,500,905 (GRCm39) |
L28Q |
probably damaging |
Het |
Skic8 |
C |
A |
9: 54,635,470 (GRCm39) |
V44L |
probably damaging |
Het |
Sptbn4 |
G |
A |
7: 27,056,812 (GRCm39) |
R2525* |
probably null |
Het |
St8sia5 |
G |
A |
18: 77,342,358 (GRCm39) |
G320D |
probably damaging |
Het |
Taf2 |
T |
C |
15: 54,911,670 (GRCm39) |
E582G |
probably damaging |
Het |
Tas2r116 |
T |
A |
6: 132,832,406 (GRCm39) |
N2K |
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tmem168 |
A |
T |
6: 13,583,045 (GRCm39) |
V612E |
probably damaging |
Het |
Unc79 |
A |
G |
12: 102,968,130 (GRCm39) |
S119G |
probably damaging |
Het |
Washc5 |
T |
A |
15: 59,227,688 (GRCm39) |
K425* |
probably null |
Het |
Wtap |
G |
T |
17: 13,186,782 (GRCm39) |
T255K |
probably benign |
Het |
Zfp148 |
T |
C |
16: 33,277,313 (GRCm39) |
V134A |
probably benign |
Het |
Zfp397 |
C |
T |
18: 24,093,808 (GRCm39) |
S431L |
probably damaging |
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 |
IGL02125:Adam29
|
APN |
8 |
56,324,974 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTAATCAGTGCCCCAGCAAGATAC -3'
(R):5'- GTTGCATGTCAAACTGCACTCTGAG -3'
Sequencing Primer
(F):5'- CCCAGCAAGATACATTTTTGACAAG -3'
(R):5'- AACTGCACTCTGAGTACTGG -3'
|
Posted On |
2015-02-04 |