Incidental Mutation 'R8353:Adam29'
ID |
645613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam29
|
Ensembl Gene |
ENSMUSG00000046258 |
Gene Name |
a disintegrin and metallopeptidase domain 29 |
Synonyms |
|
MMRRC Submission |
067805-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R8353 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
56323947-56359983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56326196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 86
(H86R)
|
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: H86R
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000054292 Gene: ENSMUSG00000046258 AA Change: H86R
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 |
0.7358 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9630041A04Rik |
G |
T |
9: 101,815,884 (GRCm39) |
C23F |
possibly damaging |
Het |
Alas1 |
C |
T |
9: 106,113,721 (GRCm39) |
R508Q |
possibly damaging |
Het |
Albfm1 |
A |
T |
5: 90,714,360 (GRCm39) |
R123S |
possibly damaging |
Het |
Ark2n |
T |
C |
18: 77,761,604 (GRCm39) |
E236G |
probably damaging |
Het |
Bmp3 |
G |
A |
5: 99,003,282 (GRCm39) |
|
probably null |
Het |
Bud13 |
A |
G |
9: 46,199,499 (GRCm39) |
T287A |
probably benign |
Het |
C3 |
T |
C |
17: 57,519,643 (GRCm39) |
E1203G |
probably benign |
Het |
Carmil2 |
A |
C |
8: 106,416,843 (GRCm39) |
Q476P |
probably damaging |
Het |
Ccdc187 |
T |
A |
2: 26,166,458 (GRCm39) |
T707S |
probably damaging |
Het |
Cfap43 |
A |
T |
19: 47,735,086 (GRCm39) |
V1435E |
probably damaging |
Het |
Chrm3 |
A |
T |
13: 9,927,267 (GRCm39) |
*590K |
probably null |
Het |
Commd1 |
C |
T |
11: 22,928,503 (GRCm39) |
|
probably benign |
Het |
Creb3l1 |
A |
T |
2: 91,821,274 (GRCm39) |
Y314* |
probably null |
Het |
Ctc1 |
T |
A |
11: 68,913,275 (GRCm39) |
S90R |
probably benign |
Het |
Dixdc1 |
T |
C |
9: 50,596,186 (GRCm39) |
Q413R |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,208,213 (GRCm39) |
T998A |
probably benign |
Het |
Dnai4 |
A |
G |
4: 102,917,113 (GRCm39) |
I577T |
possibly damaging |
Het |
Eif1ad14 |
C |
T |
12: 87,886,323 (GRCm39) |
S102N |
probably benign |
Het |
Fam89b |
A |
G |
19: 5,778,903 (GRCm39) |
S99P |
possibly damaging |
Het |
Fbxo30 |
A |
G |
10: 11,166,479 (GRCm39) |
I400M |
probably benign |
Het |
Gad1 |
A |
T |
2: 70,431,057 (GRCm39) |
M567L |
probably benign |
Het |
Gemin5 |
T |
C |
11: 58,016,065 (GRCm39) |
S1314G |
probably benign |
Het |
Gm9195 |
T |
G |
14: 72,678,201 (GRCm39) |
I2323L |
probably benign |
Het |
Gria1 |
T |
A |
11: 57,133,877 (GRCm39) |
F585L |
probably damaging |
Het |
Hbs1l |
A |
T |
10: 21,185,178 (GRCm39) |
H200L |
probably benign |
Het |
Igsf5 |
A |
G |
16: 96,222,996 (GRCm39) |
Q360R |
probably benign |
Het |
Il31ra |
A |
T |
13: 112,660,717 (GRCm39) |
V624E |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,364,779 (GRCm39) |
R837G |
probably damaging |
Het |
Itprid2 |
T |
C |
2: 79,475,129 (GRCm39) |
S363P |
probably benign |
Het |
Lpl |
A |
G |
8: 69,348,433 (GRCm39) |
I221V |
probably damaging |
Het |
Mink1 |
T |
A |
11: 70,501,154 (GRCm39) |
D887E |
possibly damaging |
Het |
Mmp10 |
T |
G |
9: 7,508,203 (GRCm39) |
F443C |
probably damaging |
Het |
Mmrn1 |
T |
A |
6: 60,965,361 (GRCm39) |
Y1131N |
probably damaging |
Het |
Mrc2 |
T |
A |
11: 105,223,137 (GRCm39) |
V460E |
probably damaging |
Het |
Nicn1 |
T |
A |
9: 108,170,572 (GRCm39) |
F57Y |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,449,528 (GRCm39) |
Y577C |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,312,352 (GRCm39) |
T1535A |
probably damaging |
Het |
Opa1 |
G |
A |
16: 29,439,686 (GRCm39) |
R755H |
probably damaging |
Het |
Phldb2 |
A |
G |
16: 45,645,385 (GRCm39) |
S354P |
probably benign |
Het |
Phykpl |
T |
C |
11: 51,489,121 (GRCm39) |
S316P |
probably damaging |
Het |
Pnpla1 |
T |
A |
17: 29,077,873 (GRCm39) |
D11E |
probably benign |
Het |
Pold2 |
A |
G |
11: 5,825,104 (GRCm39) |
F98L |
probably damaging |
Het |
Prph |
G |
A |
15: 98,954,657 (GRCm39) |
R241Q |
probably benign |
Het |
Rcl1 |
T |
C |
19: 29,093,159 (GRCm39) |
I58T |
possibly damaging |
Het |
Rps6ka2 |
A |
G |
17: 7,514,151 (GRCm39) |
N117D |
probably benign |
Het |
Sars1 |
G |
A |
3: 108,336,029 (GRCm39) |
S331L |
probably benign |
Het |
Scfd1 |
A |
C |
12: 51,459,374 (GRCm39) |
K312Q |
possibly damaging |
Het |
Senp5 |
A |
G |
16: 31,808,166 (GRCm39) |
C363R |
probably benign |
Het |
Senp7 |
A |
G |
16: 56,008,691 (GRCm39) |
I1024V |
probably damaging |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
A |
G |
7: 27,103,663 (GRCm39) |
L1191P |
probably damaging |
Het |
Stk40 |
A |
G |
4: 126,022,766 (GRCm39) |
E180G |
probably damaging |
Het |
Stxbp5 |
A |
T |
10: 9,684,792 (GRCm39) |
V536E |
probably benign |
Het |
Tex15 |
G |
T |
8: 34,066,899 (GRCm39) |
E2110* |
probably null |
Het |
Thbs4 |
G |
A |
13: 92,927,325 (GRCm39) |
P55S |
probably benign |
Het |
Tmem115 |
T |
C |
9: 107,411,997 (GRCm39) |
V107A |
probably benign |
Het |
Tnfaip6 |
A |
C |
2: 51,945,879 (GRCm39) |
I242L |
probably benign |
Het |
Trabd |
G |
T |
15: 88,969,616 (GRCm39) |
A270S |
possibly damaging |
Het |
Trim30d |
T |
A |
7: 104,136,947 (GRCm39) |
I86F |
probably damaging |
Het |
Trpc7 |
A |
G |
13: 56,970,372 (GRCm39) |
V404A |
probably benign |
Het |
Vmn1r61 |
A |
G |
7: 5,613,886 (GRCm39) |
Y143H |
probably benign |
Het |
Vmn2r18 |
T |
A |
5: 151,485,373 (GRCm39) |
D707V |
probably damaging |
Het |
Vnn3 |
G |
A |
10: 23,745,443 (GRCm39) |
R464H |
probably benign |
Het |
Wdr27 |
T |
C |
17: 15,112,751 (GRCm39) |
T652A |
probably benign |
Het |
Yeats2 |
C |
T |
16: 20,041,637 (GRCm39) |
R1176* |
probably null |
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 |
R8350:Adam29
|
UTSW |
8 |
56,325,224 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- ACTGTCCACTTTATAGACCAGATG -3'
(R):5'- CAAAGGCTGGACATCTGCAC -3'
Sequencing Primer
(F):5'- CCAGATGTTCAAATTTCCTAGAAAAC -3'
(R):5'- TGGACATCTGCACTACCACAGTTC -3'
|
Posted On |
2020-09-02 |