Incidental Mutation 'IGL02332:Adam29'
| ID |
288722 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam29
|
| Ensembl Gene |
ENSMUSG00000046258 |
| Gene Name |
a disintegrin and metallopeptidase domain 29 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL02332
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
56323947-56359983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56324775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 560
(I560F)
|
| 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: I560F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: I560F
| 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 |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B24Rik |
A |
G |
3: 48,563,323 (GRCm39) |
|
noncoding transcript |
Het |
| Abca13 |
A |
T |
11: 9,241,482 (GRCm39) |
Y1115F |
probably damaging |
Het |
| Bivm |
T |
C |
1: 44,167,880 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
C |
A |
4: 68,823,121 (GRCm39) |
R24L |
probably benign |
Het |
| Cnga1 |
A |
G |
5: 72,761,829 (GRCm39) |
Y562H |
probably damaging |
Het |
| Cr2 |
C |
A |
1: 194,842,630 (GRCm39) |
Q256H |
probably benign |
Het |
| Dhcr7 |
A |
T |
7: 143,396,865 (GRCm39) |
N119I |
probably damaging |
Het |
| Dio1 |
A |
T |
4: 107,150,978 (GRCm39) |
Y169N |
probably damaging |
Het |
| Dmbt1 |
C |
T |
7: 130,668,343 (GRCm39) |
|
probably benign |
Het |
| Eogt |
T |
G |
6: 97,102,566 (GRCm39) |
H249P |
probably damaging |
Het |
| Ermard |
A |
C |
17: 15,210,807 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
C |
6: 33,226,175 (GRCm39) |
|
probably null |
Het |
| Fxr2 |
G |
T |
11: 69,540,664 (GRCm39) |
|
probably null |
Het |
| Glyr1 |
G |
T |
16: 4,836,817 (GRCm39) |
T443N |
probably damaging |
Het |
| Gm14137 |
T |
G |
2: 119,005,807 (GRCm39) |
L122R |
probably damaging |
Het |
| Gm4845 |
C |
A |
1: 141,184,335 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8258 |
A |
G |
5: 104,923,768 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
G |
A |
3: 63,897,990 (GRCm39) |
R258H |
probably benign |
Het |
| Itga6 |
T |
G |
2: 71,668,717 (GRCm39) |
L552R |
possibly damaging |
Het |
| Itgam |
T |
A |
7: 127,684,846 (GRCm39) |
|
probably null |
Het |
| Itgb5 |
G |
T |
16: 33,740,500 (GRCm39) |
E224* |
probably null |
Het |
| Itih4 |
C |
A |
14: 30,609,817 (GRCm39) |
A49D |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,328,040 (GRCm39) |
N64K |
probably damaging |
Het |
| Moap1 |
T |
C |
12: 102,709,066 (GRCm39) |
Y161C |
probably benign |
Het |
| Mst1r |
G |
T |
9: 107,785,025 (GRCm39) |
G228* |
probably null |
Het |
| Myo1g |
T |
C |
11: 6,470,766 (GRCm39) |
D30G |
possibly damaging |
Het |
| Ndn |
T |
A |
7: 61,998,573 (GRCm39) |
C140S |
probably damaging |
Het |
| Nek5 |
G |
T |
8: 22,585,277 (GRCm39) |
Q367K |
probably benign |
Het |
| Nrdc |
A |
T |
4: 108,858,185 (GRCm39) |
R52S |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,634,571 (GRCm39) |
L1007Q |
probably damaging |
Het |
| Or51k2 |
T |
C |
7: 103,596,127 (GRCm39) |
M118T |
probably damaging |
Het |
| Or5be3 |
T |
C |
2: 86,864,556 (GRCm39) |
D3G |
probably benign |
Het |
| Or5d47 |
A |
T |
2: 87,804,409 (GRCm39) |
L200Q |
probably damaging |
Het |
| P2rx2 |
T |
C |
5: 110,489,671 (GRCm39) |
S116G |
probably benign |
Het |
| Pcdhb13 |
G |
A |
18: 37,576,635 (GRCm39) |
V338M |
probably benign |
Het |
| Pdcl2 |
A |
T |
5: 76,466,982 (GRCm39) |
Y70* |
probably null |
Het |
| Ppm1e |
T |
C |
11: 87,122,568 (GRCm39) |
H463R |
probably benign |
Het |
| Ppm1f |
T |
A |
16: 16,731,951 (GRCm39) |
C134S |
possibly damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,057,602 (GRCm39) |
F180L |
possibly damaging |
Het |
| Pxn |
A |
G |
5: 115,682,985 (GRCm39) |
S96G |
probably benign |
Het |
| Rasa4 |
G |
T |
5: 136,124,453 (GRCm39) |
Q167H |
probably benign |
Het |
| Rfx8 |
T |
C |
1: 39,757,640 (GRCm39) |
I43V |
possibly damaging |
Het |
| Sez6 |
C |
T |
11: 77,845,568 (GRCm39) |
|
probably benign |
Het |
| Slc39a6 |
A |
T |
18: 24,722,880 (GRCm39) |
D473E |
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,842,885 (GRCm39) |
D68G |
probably damaging |
Het |
| Syt13 |
T |
C |
2: 92,771,149 (GRCm39) |
F79L |
probably benign |
Het |
| Tas2r103 |
A |
T |
6: 133,013,475 (GRCm39) |
M197K |
probably benign |
Het |
| Tbrg4 |
A |
G |
11: 6,568,492 (GRCm39) |
V429A |
probably damaging |
Het |
| Tuft1 |
A |
C |
3: 94,523,075 (GRCm39) |
|
probably null |
Het |
| Uqcrc1 |
A |
G |
9: 108,776,937 (GRCm39) |
T80A |
probably damaging |
Het |
| Vps18 |
A |
G |
2: 119,124,291 (GRCm39) |
N406S |
probably benign |
Het |
| Xrn2 |
T |
A |
2: 146,868,510 (GRCm39) |
W188R |
probably damaging |
Het |
| Zzef1 |
T |
G |
11: 72,807,335 (GRCm39) |
S2738A |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation