Incidental Mutation 'R1930:Adam29'
| ID |
215281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam29
|
| Ensembl Gene |
ENSMUSG00000046258 |
| Gene Name |
a disintegrin and metallopeptidase domain 29 |
| Synonyms |
|
| MMRRC Submission |
039948-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R1930 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
56323947-56359983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56326124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 110
(Y110C)
|
| 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: Y110C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: Y110C
| 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: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.3%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,540 (GRCm39) |
D148E |
probably damaging |
Het |
| 4930590J08Rik |
T |
C |
6: 91,892,002 (GRCm39) |
V88A |
probably benign |
Het |
| 4933430I17Rik |
A |
T |
4: 62,450,519 (GRCm39) |
D31V |
possibly damaging |
Het |
| Acsl1 |
C |
A |
8: 46,984,023 (GRCm39) |
A514E |
probably benign |
Het |
| Adamts20 |
T |
A |
15: 94,301,891 (GRCm39) |
H27L |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,991,204 (GRCm39) |
I578N |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| AW011738 |
T |
C |
4: 156,287,997 (GRCm39) |
|
probably benign |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Cav1 |
A |
T |
6: 17,339,331 (GRCm39) |
I139F |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,460,291 (GRCm39) |
|
probably null |
Het |
| Chrnb1 |
A |
G |
11: 69,683,563 (GRCm39) |
L261P |
possibly damaging |
Het |
| Cntn3 |
C |
T |
6: 102,219,014 (GRCm39) |
W535* |
probably null |
Het |
| Col4a4 |
A |
C |
1: 82,444,321 (GRCm39) |
|
probably null |
Het |
| Daam2 |
A |
T |
17: 49,769,241 (GRCm39) |
|
probably null |
Het |
| Ddx23 |
G |
A |
15: 98,548,599 (GRCm39) |
R370W |
possibly damaging |
Het |
| Dgkh |
T |
C |
14: 78,853,945 (GRCm39) |
I265V |
probably damaging |
Het |
| Ece1 |
A |
G |
4: 137,666,074 (GRCm39) |
K306R |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,497,265 (GRCm39) |
T4250M |
possibly damaging |
Het |
| Fezf1 |
T |
G |
6: 23,246,906 (GRCm39) |
I309L |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,795,580 (GRCm39) |
K206E |
probably damaging |
Het |
| Glt8d2 |
G |
T |
10: 82,500,476 (GRCm39) |
S91R |
probably benign |
Het |
| H2-Oa |
A |
T |
17: 34,312,873 (GRCm39) |
H50L |
possibly damaging |
Het |
| Hsd17b2 |
T |
C |
8: 118,485,643 (GRCm39) |
Y369H |
possibly damaging |
Het |
| Hspg2 |
T |
A |
4: 137,267,541 (GRCm39) |
S2050T |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,753,202 (GRCm39) |
S961R |
probably benign |
Het |
| Ift20 |
G |
A |
11: 78,430,830 (GRCm39) |
V58I |
possibly damaging |
Het |
| Ippk |
T |
A |
13: 49,603,494 (GRCm39) |
F367I |
probably damaging |
Het |
| Klkb1 |
T |
A |
8: 45,728,514 (GRCm39) |
Q415L |
probably benign |
Het |
| Krtcap2 |
T |
A |
3: 89,154,383 (GRCm39) |
N35K |
probably damaging |
Het |
| Lgi3 |
T |
C |
14: 70,773,708 (GRCm39) |
V294A |
probably damaging |
Het |
| Lrp5 |
C |
T |
19: 3,660,131 (GRCm39) |
V978I |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,996,920 (GRCm39) |
D208E |
probably damaging |
Het |
| Mc2r |
T |
A |
18: 68,540,853 (GRCm39) |
T147S |
probably benign |
Het |
| Mfsd4b1 |
C |
A |
10: 39,882,070 (GRCm39) |
A72S |
probably benign |
Het |
| Msln |
A |
T |
17: 25,970,896 (GRCm39) |
N150K |
probably damaging |
Het |
| Naaa |
A |
G |
5: 92,425,894 (GRCm39) |
V33A |
probably benign |
Het |
| Nol10 |
A |
G |
12: 17,398,555 (GRCm39) |
M1V |
probably null |
Het |
| Or4c3 |
G |
A |
2: 89,851,505 (GRCm39) |
R302C |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,223,745 (GRCm39) |
M81K |
probably benign |
Het |
| Osbpl1a |
T |
A |
18: 13,038,251 (GRCm39) |
Q269L |
probably benign |
Het |
| Pcnx2 |
C |
A |
8: 126,614,453 (GRCm39) |
V333L |
probably benign |
Het |
| Peg10 |
A |
G |
6: 4,755,778 (GRCm39) |
Y118C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,366,733 (GRCm39) |
D737G |
possibly damaging |
Het |
| Ptgfr |
T |
A |
3: 151,540,831 (GRCm39) |
T226S |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,007,354 (GRCm39) |
V1639E |
probably damaging |
Het |
| Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
| Scgb2b20 |
T |
C |
7: 33,065,621 (GRCm39) |
|
probably null |
Het |
| Sdr16c6 |
A |
G |
4: 4,058,809 (GRCm39) |
V259A |
probably benign |
Het |
| Slc16a5 |
A |
T |
11: 115,360,194 (GRCm39) |
I126F |
probably damaging |
Het |
| Slc51b |
T |
A |
9: 65,322,478 (GRCm39) |
E21V |
probably damaging |
Het |
| Slc8a3 |
G |
T |
12: 81,361,220 (GRCm39) |
T533N |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spata3 |
A |
C |
1: 85,949,783 (GRCm39) |
|
probably benign |
Het |
| Specc1l |
A |
G |
10: 75,145,658 (GRCm39) |
D1101G |
probably damaging |
Het |
| Srf |
C |
A |
17: 46,860,912 (GRCm39) |
G401C |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stradb |
A |
C |
1: 59,030,264 (GRCm39) |
N173H |
probably benign |
Het |
| Sugp1 |
T |
A |
8: 70,524,190 (GRCm39) |
D598E |
probably benign |
Het |
| Tdg |
T |
A |
10: 82,477,378 (GRCm39) |
L35Q |
probably damaging |
Het |
| Tekt2 |
T |
C |
4: 126,216,610 (GRCm39) |
|
probably null |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tmprss2 |
T |
C |
16: 97,370,262 (GRCm39) |
S301G |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,762,079 (GRCm39) |
N515K |
unknown |
Het |
| Togaram1 |
A |
G |
12: 65,013,709 (GRCm39) |
Y320C |
probably damaging |
Het |
| Tspyl3 |
A |
G |
2: 153,066,717 (GRCm39) |
F174L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,553,193 (GRCm39) |
D31099N |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 87,065,700 (GRCm39) |
L446F |
probably damaging |
Het |
| Utp25 |
T |
A |
1: 192,800,617 (GRCm39) |
K401I |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,089,358 (GRCm39) |
L612P |
probably damaging |
Het |
| Zfp109 |
G |
A |
7: 23,928,161 (GRCm39) |
T424M |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,436,382 (GRCm39) |
M1K |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATAAGGCTGGAACCCCTTG -3'
(R):5'- AGTGGTGATTCCCATGAAGG -3'
Sequencing Primer
(F):5'- ATAAGGCTGGAACCCCTTGATTCTG -3'
(R):5'- TGGTGATTCCCATGAAGGTAACTGAG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation