Incidental Mutation 'R0294:Adam29'
| ID |
26293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam29
|
| Ensembl Gene |
ENSMUSG00000046258 |
| Gene Name |
a disintegrin and metallopeptidase domain 29 |
| Synonyms |
|
| MMRRC Submission |
038511-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0294 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
56323947-56359983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56326311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 48
(V48L)
|
| 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: V48L
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: V48L
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.4%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Aadat |
A |
G |
8: 60,987,642 (GRCm39) |
E319G |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,219,122 (GRCm39) |
|
probably null |
Het |
| Actl7b |
A |
T |
4: 56,740,848 (GRCm39) |
L170Q |
possibly damaging |
Het |
| Aknad1 |
A |
G |
3: 108,682,508 (GRCm39) |
Y528C |
probably damaging |
Het |
| Alas1 |
T |
A |
9: 106,118,455 (GRCm39) |
K222N |
probably damaging |
Het |
| Aplf |
A |
G |
6: 87,623,227 (GRCm39) |
V284A |
probably benign |
Het |
| Atp11a |
G |
A |
8: 12,877,524 (GRCm39) |
V317M |
probably benign |
Het |
| Bub3 |
A |
G |
7: 131,169,953 (GRCm39) |
E206G |
possibly damaging |
Het |
| Cblb |
T |
G |
16: 51,956,187 (GRCm39) |
F263L |
probably damaging |
Het |
| Ces2h |
T |
A |
8: 105,743,236 (GRCm39) |
M157K |
probably benign |
Het |
| Cfh |
A |
G |
1: 140,110,999 (GRCm39) |
F6L |
probably benign |
Het |
| Chst1 |
G |
T |
2: 92,443,987 (GRCm39) |
R153L |
probably damaging |
Het |
| Cimap2 |
T |
C |
4: 106,470,361 (GRCm39) |
D232G |
probably damaging |
Het |
| Cntnap5a |
T |
A |
1: 115,843,046 (GRCm39) |
N121K |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,862,372 (GRCm39) |
S1467R |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,258,646 (GRCm39) |
F72L |
possibly damaging |
Het |
| Dmrt2 |
C |
T |
19: 25,655,435 (GRCm39) |
P345S |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,165,714 (GRCm39) |
I1866T |
probably damaging |
Het |
| Egfem1 |
A |
G |
3: 29,744,270 (GRCm39) |
N503S |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,045,427 (GRCm39) |
D774G |
probably benign |
Het |
| Foxp2 |
C |
A |
6: 15,376,773 (GRCm39) |
|
probably benign |
Het |
| Gins3 |
T |
C |
8: 96,364,547 (GRCm39) |
V99A |
possibly damaging |
Het |
| Grm1 |
A |
T |
10: 10,956,143 (GRCm39) |
I47N |
probably damaging |
Het |
| H2aj |
C |
G |
6: 136,785,602 (GRCm39) |
R89G |
probably damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,601,408 (GRCm39) |
S127T |
probably benign |
Het |
| Il5ra |
A |
T |
6: 106,689,362 (GRCm39) |
M410K |
probably benign |
Het |
| Ints7 |
A |
G |
1: 191,344,003 (GRCm39) |
S548G |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,778,122 (GRCm39) |
E80G |
probably damaging |
Het |
| Lgr6 |
T |
A |
1: 135,032,799 (GRCm39) |
Q27L |
unknown |
Het |
| Lgr6 |
A |
G |
1: 134,915,629 (GRCm39) |
V373A |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,117,963 (GRCm39) |
I610V |
possibly damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Metap1d |
T |
A |
2: 71,352,889 (GRCm39) |
H239Q |
probably benign |
Het |
| Mgst2 |
A |
G |
3: 51,589,251 (GRCm39) |
Y88C |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,477,998 (GRCm39) |
N903D |
probably benign |
Het |
| Nbeal2 |
T |
G |
9: 110,461,927 (GRCm39) |
D1476A |
probably damaging |
Het |
| Nlgn1 |
C |
A |
3: 26,187,625 (GRCm39) |
A87S |
probably benign |
Het |
| Nln |
C |
T |
13: 104,189,087 (GRCm39) |
G295S |
probably damaging |
Het |
| Nnt |
T |
A |
13: 119,472,803 (GRCm39) |
Y719F |
probably benign |
Het |
| Nnt |
T |
G |
13: 119,474,953 (GRCm39) |
I659L |
possibly damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or51b17 |
A |
T |
7: 103,542,137 (GRCm39) |
H268Q |
probably benign |
Het |
| Or52s6 |
G |
A |
7: 103,092,291 (GRCm39) |
T13I |
possibly damaging |
Het |
| Or5p78 |
A |
T |
7: 108,212,357 (GRCm39) |
Y281F |
probably damaging |
Het |
| Or9g4 |
A |
G |
2: 85,505,060 (GRCm39) |
V145A |
probably damaging |
Het |
| Otogl |
C |
T |
10: 107,613,089 (GRCm39) |
C2041Y |
probably damaging |
Het |
| Patj |
G |
T |
4: 98,385,285 (GRCm39) |
D300Y |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,423,831 (GRCm39) |
E3124D |
probably benign |
Het |
| Plbd2 |
A |
G |
5: 120,625,514 (GRCm39) |
|
probably null |
Het |
| Pphln1 |
T |
C |
15: 93,318,171 (GRCm39) |
Y57H |
probably damaging |
Het |
| Ppp1r16b |
C |
T |
2: 158,588,523 (GRCm39) |
T78M |
probably damaging |
Het |
| Prss40 |
T |
G |
1: 34,595,162 (GRCm39) |
D224A |
possibly damaging |
Het |
| Senp6 |
A |
G |
9: 80,021,007 (GRCm39) |
|
probably null |
Het |
| Shank3 |
A |
G |
15: 89,416,301 (GRCm39) |
E666G |
probably damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,090,779 (GRCm39) |
I547F |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc22a18 |
G |
A |
7: 143,046,578 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
A |
G |
10: 75,917,161 (GRCm39) |
C292R |
probably damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,817,744 (GRCm39) |
Q96R |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,255,966 (GRCm39) |
E594D |
possibly damaging |
Het |
| Srpra |
T |
A |
9: 35,126,811 (GRCm39) |
M61K |
probably damaging |
Het |
| Trmt10c |
A |
T |
16: 55,855,240 (GRCm39) |
Y132N |
possibly 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 |
|
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'- AGTCACCCTCCACATAACCTTGGTAG -3'
(R):5'- CACTTCCAGAGGACAGATGCAGTC -3'
Sequencing Primer
(F):5'- AACCTTGGTAGTAGCAGTCATCC -3'
(R):5'- GGATTCAGTCACTATGAGTACCAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation