Incidental Mutation 'R8350:Adam29'
| ID |
660229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam29
|
| Ensembl Gene |
ENSMUSG00000046258 |
| Gene Name |
a disintegrin and metallopeptidase domain 29 |
| Synonyms |
|
| MMRRC Submission |
067868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R8350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
56323947-56359983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56325224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 410
(V410A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053441]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053441
AA Change: V410A
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: V410A
| 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 |
|
| Meta Mutation Damage Score |
0.1487 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (59/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
G |
T |
5: 8,978,578 (GRCm39) |
|
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,850,815 (GRCm39) |
T575A |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,804,353 (GRCm39) |
K877E |
possibly damaging |
Het |
| Arpin |
A |
T |
7: 79,581,615 (GRCm39) |
I35N |
possibly damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,388 (GRCm39) |
I13T |
unknown |
Het |
| Bcas1 |
T |
C |
2: 170,248,220 (GRCm39) |
N234D |
possibly damaging |
Het |
| Clca3a2 |
C |
T |
3: 144,783,668 (GRCm39) |
G649E |
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,322,181 (GRCm39) |
L516Q |
probably damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,512,494 (GRCm39) |
V90L |
probably benign |
Het |
| Cyb5b |
A |
G |
8: 107,896,552 (GRCm39) |
Y91C |
possibly damaging |
Het |
| Cystm1 |
T |
C |
18: 36,526,303 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,327,231 (GRCm39) |
Q727K |
probably damaging |
Het |
| Dpf3 |
G |
A |
12: 83,397,625 (GRCm39) |
R80C |
probably damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,127,667 (GRCm39) |
T882M |
probably damaging |
Het |
| Fam136a |
A |
G |
6: 86,345,795 (GRCm39) |
K104R |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,793,614 (GRCm39) |
V1172A |
probably benign |
Het |
| Foxc1 |
C |
T |
13: 31,991,548 (GRCm39) |
Q120* |
probably null |
Het |
| Grin1 |
G |
A |
2: 25,188,323 (GRCm39) |
R448C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,238,949 (GRCm39) |
P411S |
probably damaging |
Het |
| Irgq |
T |
A |
7: 24,233,165 (GRCm39) |
D335E |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,503,960 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,602,947 (GRCm39) |
E874G |
probably damaging |
Het |
| Lrp8 |
A |
G |
4: 107,704,661 (GRCm39) |
N168D |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,824,973 (GRCm39) |
C1529* |
probably null |
Het |
| Mau2 |
A |
T |
8: 70,495,242 (GRCm39) |
Y32N |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,227,998 (GRCm39) |
N638K |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,300,200 (GRCm39) |
D1611E |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,805 (GRCm39) |
|
probably null |
Het |
| Nek5 |
A |
G |
8: 22,603,688 (GRCm39) |
V138A |
probably damaging |
Het |
| Opcml |
A |
T |
9: 28,813,463 (GRCm39) |
E251D |
probably benign |
Het |
| Or13c7e-ps1 |
T |
A |
4: 43,782,175 (GRCm39) |
I52F |
probably benign |
Het |
| Or1j14 |
T |
A |
2: 36,418,176 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or1o1 |
A |
T |
17: 37,717,260 (GRCm39) |
M274L |
probably benign |
Het |
| Pde1b |
A |
T |
15: 103,411,901 (GRCm39) |
M1L |
probably benign |
Het |
| Pias1 |
G |
A |
9: 62,859,266 (GRCm39) |
H72Y |
probably damaging |
Het |
| Postn |
G |
A |
3: 54,277,679 (GRCm39) |
V225I |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,353,483 (GRCm39) |
V661A |
probably benign |
Het |
| Ptpn1 |
T |
A |
2: 167,816,161 (GRCm39) |
F225Y |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,868,898 (GRCm39) |
V1425M |
probably damaging |
Het |
| Rbfox1 |
C |
A |
16: 7,094,954 (GRCm39) |
S111R |
probably benign |
Het |
| Rbm24 |
T |
C |
13: 46,572,676 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
G |
4: 121,027,954 (GRCm39) |
K224T |
probably damaging |
Het |
| Scgb2b3 |
G |
A |
7: 31,061,485 (GRCm39) |
L5F |
probably damaging |
Het |
| Sdr42e2 |
T |
C |
7: 120,419,873 (GRCm39) |
L206P |
probably damaging |
Het |
| Serpinb9g |
A |
G |
13: 33,676,854 (GRCm39) |
E212G |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,257,146 (GRCm39) |
Y524C |
probably damaging |
Het |
| Sh3pxd2a |
C |
A |
19: 47,258,277 (GRCm39) |
E475D |
probably null |
Het |
| Skil |
A |
G |
3: 31,151,603 (GRCm39) |
T42A |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,311,207 (GRCm39) |
V203A |
probably damaging |
Het |
| Sugp2 |
C |
T |
8: 70,695,641 (GRCm39) |
R205* |
probably null |
Het |
| Tle1 |
C |
A |
4: 72,057,203 (GRCm39) |
|
probably benign |
Het |
| Tmem63c |
T |
A |
12: 87,119,660 (GRCm39) |
L318Q |
probably damaging |
Het |
| Txnrd1 |
A |
G |
10: 82,717,759 (GRCm39) |
I248V |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,686,741 (GRCm39) |
C707* |
probably null |
Het |
| Xdh |
C |
T |
17: 74,241,837 (GRCm39) |
G154D |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,355,713 (GRCm39) |
D3491E |
probably benign |
Het |
| Yjefn3 |
A |
G |
8: 70,341,869 (GRCm39) |
L77P |
probably damaging |
Het |
| Zer1 |
C |
T |
2: 29,991,862 (GRCm39) |
E653K |
probably damaging |
Het |
| Zfyve27 |
T |
C |
19: 42,167,911 (GRCm39) |
V151A |
probably benign |
Het |
| Zim1 |
T |
A |
7: 6,685,064 (GRCm39) |
S129C |
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 |
|
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 |
|
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'- TGGAAGGTCACAAATGTTATCCC -3'
(R):5'- TTGGAGTGGCTCATCACTTAGG -3'
Sequencing Primer
(F):5'- CTTTTTCTACACAGAGTCCCTGATGG -3'
(R):5'- GGCTCATCACTTAGGTCATAATTTGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation