Incidental Mutation 'R1296:Adam29'
ID |
158130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam29
|
Ensembl Gene |
ENSMUSG00000046258 |
Gene Name |
a disintegrin and metallopeptidase domain 29 |
Synonyms |
|
MMRRC Submission |
039362-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R1296 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
56323947-56359983 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 56324754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 567
(Q567*)
|
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: Q567*
|
SMART Domains |
Protein: ENSMUSP00000054292 Gene: ENSMUSG00000046258 AA Change: Q567*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.1%
|
Validation Efficiency |
100% (72/72) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol11a |
T |
C |
15: 77,395,219 (GRCm39) |
|
probably benign |
Het |
Arhgap29 |
A |
G |
3: 121,786,044 (GRCm39) |
H275R |
probably benign |
Het |
Arhgef17 |
C |
A |
7: 100,530,476 (GRCm39) |
E428* |
probably null |
Het |
Atm |
A |
T |
9: 53,367,830 (GRCm39) |
V2431E |
probably damaging |
Het |
Atn1 |
G |
T |
6: 124,724,750 (GRCm39) |
P161Q |
unknown |
Het |
Atp13a2 |
T |
C |
4: 140,721,113 (GRCm39) |
S99P |
probably damaging |
Het |
Atp8a1 |
A |
T |
5: 67,780,049 (GRCm39) |
|
probably benign |
Het |
Cdk18 |
T |
C |
1: 132,047,698 (GRCm39) |
|
probably benign |
Het |
Cep85 |
A |
G |
4: 133,894,711 (GRCm39) |
W32R |
probably damaging |
Het |
Cntn4 |
G |
T |
6: 106,486,363 (GRCm39) |
G264C |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,940,052 (GRCm39) |
S1293P |
possibly damaging |
Het |
Col6a6 |
T |
C |
9: 105,658,290 (GRCm39) |
K641E |
probably damaging |
Het |
Dmd |
A |
T |
X: 82,922,126 (GRCm39) |
K1465N |
probably damaging |
Het |
Dus2 |
T |
C |
8: 106,779,675 (GRCm39) |
V403A |
possibly damaging |
Het |
Frs2 |
C |
T |
10: 116,916,979 (GRCm39) |
C5Y |
probably benign |
Het |
Gm5174 |
A |
G |
10: 86,492,866 (GRCm39) |
|
noncoding transcript |
Het |
Gpr61 |
A |
G |
3: 108,057,797 (GRCm39) |
V288A |
possibly damaging |
Het |
Grik3 |
G |
A |
4: 125,598,357 (GRCm39) |
|
probably benign |
Het |
Haao |
T |
A |
17: 84,146,267 (GRCm39) |
Q69L |
probably benign |
Het |
Ints6 |
T |
C |
14: 62,942,352 (GRCm39) |
|
probably benign |
Het |
Ints8 |
T |
C |
4: 11,221,204 (GRCm39) |
I724V |
possibly damaging |
Het |
Lrrk2 |
G |
A |
15: 91,613,123 (GRCm39) |
C749Y |
probably damaging |
Het |
Map4k1 |
A |
G |
7: 28,697,877 (GRCm39) |
D471G |
possibly damaging |
Het |
Mbtd1 |
A |
G |
11: 93,801,185 (GRCm39) |
Y122C |
probably damaging |
Het |
Mif-ps9 |
T |
A |
19: 56,743,766 (GRCm39) |
|
noncoding transcript |
Het |
Mrfap1 |
A |
G |
5: 36,953,817 (GRCm39) |
S41P |
possibly damaging |
Het |
Mrm2 |
T |
C |
5: 140,314,308 (GRCm39) |
T176A |
probably benign |
Het |
Mslnl |
T |
C |
17: 25,962,214 (GRCm39) |
L204P |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,238,144 (GRCm39) |
E112G |
probably benign |
Het |
Nfyb |
A |
G |
10: 82,586,665 (GRCm39) |
|
probably benign |
Het |
Nlgn3 |
T |
C |
X: 100,352,522 (GRCm39) |
|
probably benign |
Het |
Nr3c1 |
G |
A |
18: 39,620,051 (GRCm39) |
Q79* |
probably null |
Het |
Nxpe4 |
C |
G |
9: 48,307,793 (GRCm39) |
T299R |
probably benign |
Het |
Otud4 |
C |
A |
8: 80,400,603 (GRCm39) |
H1105N |
unknown |
Het |
Pcnx2 |
A |
G |
8: 126,500,572 (GRCm39) |
L1506P |
probably damaging |
Het |
Prl2c5 |
T |
A |
13: 13,364,009 (GRCm39) |
H88Q |
probably damaging |
Het |
Psmb2 |
A |
G |
4: 126,580,825 (GRCm39) |
Y73C |
probably damaging |
Het |
Rbl1 |
A |
T |
2: 157,011,891 (GRCm39) |
V688D |
probably benign |
Het |
Rhox2g |
C |
A |
X: 36,824,865 (GRCm39) |
|
probably benign |
Het |
Rmnd5a |
G |
A |
6: 71,375,439 (GRCm39) |
L80F |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,702,765 (GRCm39) |
|
probably benign |
Het |
Sele |
T |
A |
1: 163,878,379 (GRCm39) |
S239R |
probably damaging |
Het |
Siglecf |
A |
T |
7: 43,005,344 (GRCm39) |
R435* |
probably null |
Het |
Slc23a1 |
C |
T |
18: 35,755,676 (GRCm39) |
V407M |
possibly damaging |
Het |
Slc6a14 |
G |
A |
X: 21,587,807 (GRCm39) |
V122I |
probably benign |
Het |
Spdl1 |
T |
A |
11: 34,704,434 (GRCm39) |
E466D |
unknown |
Het |
Stau2 |
A |
G |
1: 16,510,596 (GRCm39) |
F121L |
probably benign |
Het |
Stxbp1 |
A |
T |
2: 32,684,648 (GRCm39) |
S594T |
probably benign |
Het |
Sufu |
G |
A |
19: 46,443,159 (GRCm39) |
|
probably benign |
Het |
Tap2 |
G |
T |
17: 34,430,889 (GRCm39) |
V330L |
probably benign |
Het |
Tbc1d1 |
T |
C |
5: 64,421,775 (GRCm39) |
L389P |
probably damaging |
Het |
Tbx2 |
A |
G |
11: 85,725,592 (GRCm39) |
E181G |
probably damaging |
Het |
Tlcd4 |
A |
G |
3: 121,000,940 (GRCm39) |
V231A |
probably benign |
Het |
Tmprss9 |
G |
T |
10: 80,726,279 (GRCm39) |
A510S |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,890,551 (GRCm39) |
C298Y |
probably damaging |
Het |
Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
Ugt2a3 |
A |
T |
5: 87,475,005 (GRCm39) |
L413Q |
probably damaging |
Het |
Vcan |
A |
G |
13: 89,805,675 (GRCm39) |
I2335T |
probably damaging |
Het |
Vmn2r28 |
T |
C |
7: 5,484,544 (GRCm39) |
N552S |
possibly damaging |
Het |
Zc3h7a |
C |
T |
16: 10,978,890 (GRCm39) |
R95H |
probably damaging |
Het |
Zfp598 |
A |
G |
17: 24,898,623 (GRCm39) |
N474S |
probably benign |
Het |
Zng1 |
A |
T |
19: 24,920,039 (GRCm39) |
|
probably benign |
Het |
Zpld1 |
T |
C |
16: 55,068,697 (GRCm39) |
D138G |
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 |
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'- AGAATGCAGGTGTACAGTTGCTGTC -3'
(R):5'- CGTCCCATGAATGTCCAGATGATGC -3'
Sequencing Primer
(F):5'- CAGGTGTACAGTTGCTGTCTAATG -3'
(R):5'- TGACCGCAATGAGCACTG -3'
|
Posted On |
2014-02-18 |