Incidental Mutation 'R9388:Adam29'
| ID |
710433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam29
|
| Ensembl Gene |
ENSMUSG00000046258 |
| Gene Name |
a disintegrin and metallopeptidase domain 29 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R9388 (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 C
at 56325285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 390
(C390G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053441]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053441
AA Change: C390G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: C390G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
A |
5: 113,338,714 (GRCm39) |
T433S |
probably benign |
Het |
| Abca14 |
A |
G |
7: 119,882,261 (GRCm39) |
D1141G |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,483,273 (GRCm39) |
S1728P |
unknown |
Het |
| Angptl4 |
G |
A |
17: 33,996,158 (GRCm39) |
R273* |
probably null |
Het |
| Arfgef3 |
T |
C |
10: 18,505,877 (GRCm39) |
N929S |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,466,109 (GRCm39) |
|
probably null |
Het |
| Btla |
T |
C |
16: 45,059,454 (GRCm39) |
S53P |
probably damaging |
Het |
| Cand1 |
A |
G |
10: 119,047,213 (GRCm39) |
F759S |
possibly damaging |
Het |
| Cbll1 |
T |
C |
12: 31,541,567 (GRCm39) |
T104A |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,865,756 (GRCm39) |
M2688V |
possibly damaging |
Het |
| Cnot3 |
C |
A |
7: 3,661,367 (GRCm39) |
H625Q |
possibly damaging |
Het |
| Dbn1 |
T |
C |
13: 55,624,088 (GRCm39) |
I381V |
probably benign |
Het |
| Dennd2d |
T |
A |
3: 106,395,915 (GRCm39) |
N135K |
possibly damaging |
Het |
| Dnah7c |
T |
C |
1: 46,779,886 (GRCm39) |
I3196T |
probably damaging |
Het |
| Dock2 |
C |
A |
11: 34,212,460 (GRCm39) |
R1227L |
possibly damaging |
Het |
| Esr1 |
A |
G |
10: 4,919,179 (GRCm39) |
E423G |
probably benign |
Het |
| Ganab |
A |
G |
19: 8,892,302 (GRCm39) |
Q826R |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,143,522 (GRCm39) |
M684K |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,707,956 (GRCm39) |
L613P |
probably damaging |
Het |
| Hpf1 |
A |
T |
8: 61,353,182 (GRCm39) |
I188L |
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
| Kif1a |
C |
A |
1: 93,000,029 (GRCm39) |
|
probably null |
Het |
| Kng1 |
A |
T |
16: 22,898,388 (GRCm39) |
Y596F |
possibly damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,961,862 (GRCm39) |
H757Q |
probably damaging |
Het |
| Med24 |
A |
T |
11: 98,600,893 (GRCm39) |
I600N |
possibly damaging |
Het |
| Mmp10 |
G |
A |
9: 7,504,170 (GRCm39) |
W203* |
probably null |
Het |
| Mnt |
C |
T |
11: 74,727,450 (GRCm39) |
A112V |
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,472,983 (GRCm39) |
N1415Y |
probably benign |
Het |
| Nipal1 |
T |
A |
5: 72,825,557 (GRCm39) |
*417R |
probably null |
Het |
| Nlrp4c |
C |
T |
7: 6,069,874 (GRCm39) |
Q592* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,943,489 (GRCm39) |
E4220G |
probably damaging |
Het |
| Or10al7 |
C |
T |
17: 38,366,148 (GRCm39) |
C103Y |
probably damaging |
Het |
| Or13a23-ps1 |
G |
T |
7: 140,118,928 (GRCm39) |
C166F |
unknown |
Het |
| Or2w1b |
T |
C |
13: 21,300,774 (GRCm39) |
L304P |
probably damaging |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,853 (GRCm39) |
I460F |
probably benign |
Het |
| Prb1b |
T |
C |
6: 132,289,437 (GRCm39) |
Q129R |
unknown |
Het |
| Primpol |
G |
A |
8: 47,034,605 (GRCm39) |
T441I |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,011,380 (GRCm39) |
V583A |
possibly damaging |
Het |
| Rfx6 |
T |
C |
10: 51,554,117 (GRCm39) |
V71A |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,693,355 (GRCm39) |
I574V |
probably benign |
Het |
| Rims3 |
A |
G |
4: 120,748,552 (GRCm39) |
I258V |
possibly damaging |
Het |
| Sec16b |
T |
C |
1: 157,388,393 (GRCm39) |
Y776H |
probably benign |
Het |
| Skint6 |
C |
T |
4: 113,049,838 (GRCm39) |
D276N |
possibly damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,727,067 (GRCm39) |
D184G |
probably damaging |
Het |
| St6galnac4 |
A |
T |
2: 32,479,625 (GRCm39) |
S61C |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,876,312 (GRCm39) |
V926M |
probably damaging |
Het |
| Stat1 |
A |
T |
1: 52,193,037 (GRCm39) |
K642N |
possibly damaging |
Het |
| Tmprss3 |
A |
G |
17: 31,410,041 (GRCm39) |
F191S |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,430,210 (GRCm39) |
D1176G |
possibly damaging |
Het |
| Usp17ld |
G |
T |
7: 102,900,145 (GRCm39) |
N262K |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,993,233 (GRCm39) |
K365E |
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 |
|
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 |
|
|
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'- TTTCTACACAGAGTCCCTGATGG -3'
(R):5'- GAACCTTCGTGCCATTGGAG -3'
Sequencing Primer
(F):5'- CTGACAGTTTTTGCAGCAAAGTCC -3'
(R):5'- CCATTGGAGTGGCTCATCACTTAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation