Incidental Mutation 'R7076:Adam29'
| ID |
549225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam29
|
| Ensembl Gene |
ENSMUSG00000046258 |
| Gene Name |
a disintegrin and metallopeptidase domain 29 |
| Synonyms |
|
| MMRRC Submission |
045171-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R7076 (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 G
at 56324694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 587
(C587R)
|
| 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: C587R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: C587R
| 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: 98.9%
|
| Validation Efficiency |
100% (60/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,562,769 (GRCm39) |
T523A |
probably damaging |
Het |
| Arrdc3 |
A |
T |
13: 81,038,815 (GRCm39) |
K259M |
probably damaging |
Het |
| Becn1 |
A |
T |
11: 101,186,150 (GRCm39) |
N151K |
probably benign |
Het |
| Cars2 |
C |
T |
8: 11,579,649 (GRCm39) |
E270K |
probably damaging |
Het |
| Ccp110 |
C |
A |
7: 118,331,628 (GRCm39) |
P943Q |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,661,786 (GRCm39) |
I466T |
probably benign |
Het |
| Cd164 |
A |
G |
10: 41,399,193 (GRCm39) |
E94G |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,415,446 (GRCm39) |
T1228I |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,311,091 (GRCm39) |
V3145L |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,311,092 (GRCm39) |
K3144N |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,411,078 (GRCm39) |
V1649A |
probably benign |
Het |
| Dgka |
A |
T |
10: 128,569,452 (GRCm39) |
D153E |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,055,853 (GRCm39) |
|
probably null |
Het |
| Dnajc21 |
T |
C |
15: 10,449,717 (GRCm39) |
T435A |
probably benign |
Het |
| F830016B08Rik |
A |
T |
18: 60,433,543 (GRCm39) |
I209F |
probably damaging |
Het |
| Ghdc |
C |
A |
11: 100,660,540 (GRCm39) |
S111I |
possibly damaging |
Het |
| Gm19965 |
T |
C |
1: 116,749,005 (GRCm39) |
C229R |
|
Het |
| Gpm6a |
C |
T |
8: 55,490,486 (GRCm39) |
T54I |
probably damaging |
Het |
| Gpr171 |
G |
T |
3: 59,005,577 (GRCm39) |
A66E |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 111,335,113 (GRCm39) |
D508G |
probably benign |
Het |
| Has1 |
G |
A |
17: 18,064,068 (GRCm39) |
R524C |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ighv3-8 |
A |
T |
12: 114,286,402 (GRCm39) |
L7Q |
probably damaging |
Het |
| Ints10 |
A |
T |
8: 69,249,403 (GRCm39) |
R78* |
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,365,257 (GRCm39) |
I903V |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,386,052 (GRCm39) |
|
probably null |
Het |
| Mki67 |
A |
G |
7: 135,307,358 (GRCm39) |
V132A |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,143,999 (GRCm39) |
E1123G |
possibly damaging |
Het |
| Neurog3 |
A |
G |
10: 61,969,359 (GRCm39) |
T40A |
probably benign |
Het |
| Nipsnap3b |
T |
A |
4: 53,021,095 (GRCm39) |
|
probably null |
Het |
| Nr4a3 |
G |
A |
4: 48,055,957 (GRCm39) |
V328I |
probably damaging |
Het |
| Or11g27 |
T |
A |
14: 50,771,278 (GRCm39) |
Y136* |
probably null |
Het |
| Or2d36 |
T |
C |
7: 106,747,236 (GRCm39) |
F238L |
probably damaging |
Het |
| Or52u1 |
A |
T |
7: 104,237,430 (GRCm39) |
S140C |
probably damaging |
Het |
| Or5af2 |
G |
A |
11: 58,707,990 (GRCm39) |
R52Q |
probably benign |
Het |
| Or5b124 |
G |
T |
19: 13,611,244 (GRCm39) |
M256I |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,811,205 (GRCm39) |
V177D |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,263,577 (GRCm39) |
L102P |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,917,983 (GRCm39) |
R503Q |
probably damaging |
Het |
| Ppp2r2d |
T |
C |
7: 138,478,326 (GRCm39) |
M321T |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,475,302 (GRCm39) |
Y197C |
probably damaging |
Het |
| Prss32 |
A |
G |
17: 24,072,895 (GRCm39) |
D42G |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,768,361 (GRCm39) |
E1210G |
possibly damaging |
Het |
| Sdr16c5 |
A |
G |
4: 4,006,591 (GRCm39) |
C234R |
probably damaging |
Het |
| Slc23a4 |
A |
G |
6: 34,933,819 (GRCm39) |
S95P |
probably damaging |
Het |
| Srp14 |
T |
C |
2: 118,309,871 (GRCm39) |
T29A |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,172,784 (GRCm39) |
H1826L |
possibly damaging |
Het |
| Tfr2 |
A |
T |
5: 137,581,836 (GRCm39) |
Y641F |
probably damaging |
Het |
| Tmco5b |
A |
G |
2: 113,117,766 (GRCm39) |
N27D |
probably damaging |
Het |
| Tvp23a |
T |
C |
16: 10,246,599 (GRCm39) |
D62G |
probably benign |
Het |
| Usp12 |
A |
G |
5: 146,674,562 (GRCm39) |
F347S |
possibly damaging |
Het |
| Zfp407 |
A |
T |
18: 84,576,601 (GRCm39) |
L1504Q |
probably damaging |
Het |
| Zfp524 |
A |
G |
7: 5,020,895 (GRCm39) |
D141G |
possibly damaging |
Het |
| Zfp68 |
A |
G |
5: 138,605,201 (GRCm39) |
I374T |
possibly damaging |
Het |
| Zfp758 |
C |
T |
17: 22,594,137 (GRCm39) |
H208Y |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,819,751 (GRCm39) |
H1104R |
probably benign |
Het |
| Znrf2 |
T |
A |
6: 54,819,680 (GRCm39) |
*75K |
probably null |
Het |
| Zzef1 |
T |
C |
11: 72,790,385 (GRCm39) |
V2113A |
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 |
|
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'- ATCCCAGTGGAAGTTGCAGTG -3'
(R):5'- GCAAGTGTACATTGCTACAGAG -3'
Sequencing Primer
(F):5'- TGATGTTTATTGTTACAGATGCCCC -3'
(R):5'- TGCTACAGAGAAATAAACACTAAAGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation