Incidental Mutation 'R6707:Adam29'
| ID |
528979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam29
|
| Ensembl Gene |
ENSMUSG00000046258 |
| Gene Name |
a disintegrin and metallopeptidase domain 29 |
| Synonyms |
|
| MMRRC Submission |
044825-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6707 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
56323947-56359983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 56325135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 440
(G440R)
|
| 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: G440R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: G440R
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (42/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
C |
10: 106,920,783 (GRCm39) |
Y109C |
probably damaging |
Het |
| Actg2 |
C |
T |
6: 83,490,076 (GRCm39) |
W341* |
probably null |
Het |
| Arfgef3 |
T |
C |
10: 18,496,903 (GRCm39) |
D1153G |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,211,624 (GRCm39) |
T120A |
possibly damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,073,224 (GRCm39) |
Q1371K |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,222 (GRCm39) |
D122E |
probably benign |
Het |
| Boc |
A |
T |
16: 44,320,979 (GRCm39) |
I227N |
possibly damaging |
Het |
| Clca3b |
T |
A |
3: 144,550,288 (GRCm39) |
Q219L |
probably benign |
Het |
| Cplane1 |
G |
A |
15: 8,252,606 (GRCm39) |
V1943M |
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,174,944 (GRCm39) |
F448Y |
probably damaging |
Het |
| Ddx5 |
A |
G |
11: 106,673,058 (GRCm39) |
M489T |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,226,253 (GRCm39) |
D312G |
probably null |
Het |
| Ecpas |
T |
A |
4: 58,879,101 (GRCm39) |
I63L |
possibly damaging |
Het |
| Eqtn |
T |
C |
4: 94,796,056 (GRCm39) |
D215G |
probably benign |
Het |
| Evi5l |
A |
T |
8: 4,256,322 (GRCm39) |
T706S |
probably benign |
Het |
| Gtf2f1 |
T |
C |
17: 57,314,770 (GRCm39) |
E90G |
probably benign |
Het |
| Hpx |
A |
T |
7: 105,244,682 (GRCm39) |
S168T |
probably benign |
Het |
| Ipo4 |
C |
A |
14: 55,866,361 (GRCm39) |
V773L |
possibly damaging |
Het |
| Ireb2 |
C |
T |
9: 54,811,245 (GRCm39) |
T716I |
probably damaging |
Het |
| Klhl21 |
A |
G |
4: 152,096,784 (GRCm39) |
D350G |
possibly damaging |
Het |
| Myh13 |
A |
T |
11: 67,241,086 (GRCm39) |
N821I |
probably damaging |
Het |
| Nipbl |
G |
T |
15: 8,354,043 (GRCm39) |
T1698K |
probably benign |
Het |
| Nod2 |
A |
G |
8: 89,391,817 (GRCm39) |
H686R |
probably benign |
Het |
| Ntf3 |
A |
G |
6: 126,141,691 (GRCm39) |
|
probably null |
Het |
| Or6c215 |
G |
T |
10: 129,637,689 (GRCm39) |
A235D |
probably damaging |
Het |
| Or6c69 |
T |
C |
10: 129,747,608 (GRCm39) |
T180A |
probably benign |
Het |
| Parp9 |
A |
T |
16: 35,768,303 (GRCm39) |
H161L |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,392,539 (GRCm39) |
N1625D |
probably benign |
Het |
| Rdx |
T |
C |
9: 51,974,954 (GRCm39) |
F30S |
probably damaging |
Het |
| Smo |
T |
A |
6: 29,736,173 (GRCm39) |
V55E |
probably benign |
Het |
| Sox9 |
C |
A |
11: 112,673,698 (GRCm39) |
N96K |
probably damaging |
Het |
| Spp2 |
T |
G |
1: 88,345,016 (GRCm39) |
|
probably null |
Het |
| Tex46 |
A |
G |
4: 136,340,161 (GRCm39) |
N82S |
probably benign |
Het |
| Timm22 |
C |
T |
11: 76,298,151 (GRCm39) |
L41F |
possibly damaging |
Het |
| Tmem30a |
A |
T |
9: 79,681,547 (GRCm39) |
Y207* |
probably null |
Het |
| Tmem70 |
T |
C |
1: 16,747,531 (GRCm39) |
V216A |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,040,302 (GRCm39) |
N151S |
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,948,364 (GRCm39) |
C537R |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,545,583 (GRCm39) |
Y339C |
probably damaging |
Het |
| Zp2 |
C |
T |
7: 119,733,145 (GRCm39) |
G599R |
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 |
|
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 |
|
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'- GTGCTCATTGCGGTCATTAC -3'
(R):5'- ACCCAAATTCAGCAATTGTAGC -3'
Sequencing Primer
(F):5'- GCGGTCATTACATTGCTTTTCATAG -3'
(R):5'- ACTTTTGGTCTTACACTGTAAAGAAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation