Incidental Mutation 'R8723:Adam29'
| ID |
662227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam29
|
| Ensembl Gene |
ENSMUSG00000046258 |
| Gene Name |
a disintegrin and metallopeptidase domain 29 |
| Synonyms |
|
| MMRRC Submission |
068615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8723 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
56323947-56359983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56324513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 647
(H647R)
|
| 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: H647R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: H647R
| 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: 99.2%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,360,897 (GRCm39) |
H465Q |
probably benign |
Het |
| Adamtsl4 |
C |
T |
3: 95,584,426 (GRCm39) |
R990Q |
possibly damaging |
Het |
| Adgrg7 |
T |
G |
16: 56,582,282 (GRCm39) |
R285S |
probably benign |
Het |
| Alkbh1 |
A |
G |
12: 87,485,278 (GRCm39) |
V115A |
probably benign |
Het |
| Ankrd50 |
A |
C |
3: 38,511,453 (GRCm39) |
F305V |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,488,686 (GRCm39) |
S414P |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,986,206 (GRCm39) |
I282V |
probably benign |
Het |
| Aoah |
T |
G |
13: 21,184,180 (GRCm39) |
Y415D |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,548,510 (GRCm39) |
V1188A |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,462,907 (GRCm39) |
I1651T |
probably benign |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Ctnnd1 |
G |
A |
2: 84,450,384 (GRCm39) |
P279S |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,891,685 (GRCm39) |
E3298V |
probably damaging |
Het |
| Ear14 |
C |
T |
14: 51,441,513 (GRCm39) |
T123I |
possibly damaging |
Het |
| Elf3 |
A |
G |
1: 135,185,385 (GRCm39) |
L43P |
possibly damaging |
Het |
| Exoc3l4 |
T |
A |
12: 111,397,092 (GRCm39) |
|
probably benign |
Het |
| Figla |
A |
G |
6: 85,997,724 (GRCm39) |
T151A |
probably benign |
Het |
| Fsd1l |
A |
G |
4: 53,647,001 (GRCm39) |
E56G |
unknown |
Het |
| Gm49359 |
A |
T |
13: 62,602,410 (GRCm39) |
H263Q |
probably damaging |
Het |
| Gprc6a |
A |
T |
10: 51,491,518 (GRCm39) |
C744S |
probably damaging |
Het |
| Grhl1 |
G |
A |
12: 24,662,244 (GRCm39) |
|
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Itih3 |
T |
A |
14: 30,630,761 (GRCm39) |
Q850L |
probably damaging |
Het |
| Kcnq5 |
A |
G |
1: 21,575,591 (GRCm39) |
V285A |
probably damaging |
Het |
| Klc4 |
T |
G |
17: 46,951,626 (GRCm39) |
E165A |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,316,648 (GRCm39) |
Y2111C |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,887,342 (GRCm39) |
E3057G |
possibly damaging |
Het |
| Macf1 |
G |
A |
4: 123,348,910 (GRCm39) |
Q4006* |
probably null |
Het |
| Map4k1 |
G |
A |
7: 28,686,542 (GRCm39) |
D155N |
probably damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,083,055 (GRCm39) |
Y122H |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,272,407 (GRCm39) |
F1466S |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,553 (GRCm39) |
D668G |
probably damaging |
Het |
| Or5w17 |
T |
C |
2: 87,583,501 (GRCm39) |
T279A |
possibly damaging |
Het |
| Or8k3 |
A |
T |
2: 86,058,786 (GRCm39) |
H176Q |
probably damaging |
Het |
| P2rx1 |
C |
A |
11: 72,899,756 (GRCm39) |
N120K |
probably benign |
Het |
| Pif1 |
T |
A |
9: 65,501,673 (GRCm39) |
M569K |
probably damaging |
Het |
| Prkd2 |
G |
A |
7: 16,591,702 (GRCm39) |
V578I |
possibly damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,101 (GRCm39) |
Y284C |
probably damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,410,757 (GRCm39) |
T164A |
possibly damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,557,802 (GRCm39) |
T559A |
probably benign |
Het |
| Sag |
G |
A |
1: 87,751,175 (GRCm39) |
|
probably null |
Het |
| Smoc1 |
G |
A |
12: 81,182,586 (GRCm39) |
V138I |
possibly damaging |
Het |
| Spag5 |
T |
A |
11: 78,212,215 (GRCm39) |
I1081N |
probably damaging |
Het |
| Stk25 |
A |
G |
1: 93,553,666 (GRCm39) |
I203T |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,941,863 (GRCm39) |
V611E |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,856,911 (GRCm39) |
D54V |
probably damaging |
Het |
| Tacr2 |
A |
G |
10: 62,094,107 (GRCm39) |
D188G |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,145,731 (GRCm39) |
Y358N |
probably damaging |
Het |
| Trim27 |
A |
C |
13: 21,374,807 (GRCm39) |
|
probably benign |
Het |
| Tsen34 |
A |
G |
7: 3,698,149 (GRCm39) |
E139G |
probably benign |
Het |
| Ttc39a |
T |
A |
4: 109,300,700 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,671,899 (GRCm39) |
I781N |
probably damaging |
Het |
| Uqcc1 |
C |
T |
2: 155,729,100 (GRCm39) |
W21* |
probably null |
Het |
| Vmn2r117 |
A |
T |
17: 23,696,343 (GRCm39) |
W355R |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,693,910 (GRCm39) |
V420A |
probably benign |
Het |
| Zdhhc21 |
A |
T |
4: 82,762,439 (GRCm39) |
I52K |
probably benign |
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 |
|
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'- ACAGGTGTAGGCTGAACTTG -3'
(R):5'- TGGGGCACTGATTACCACAC -3'
Sequencing Primer
(F):5'- GAACTTGGGGCTTTCGTTTACTTCC -3'
(R):5'- TGATTACCACACTGGGACAAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation