Incidental Mutation 'R1083:Adamts17'
| ID |
84923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts17
|
| Ensembl Gene |
ENSMUSG00000058145 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
| Synonyms |
AU023434 |
| MMRRC Submission |
039169-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R1083 (G1)
|
| Quality Score |
165 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
66489483-66802919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 66797322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 986
(C986Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098382]
[ENSMUST00000107478]
|
| AlphaFold |
E9Q4D1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098382
AA Change: C1013Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145
AA Change: C1013Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
35 |
179 |
2.9e-25 |
PFAM |
|
Pfam:Reprolysin_5
|
228 |
422 |
3.1e-15 |
PFAM |
|
Pfam:Reprolysin_2
|
248 |
440 |
6.1e-13 |
PFAM |
|
Pfam:Reprolysin_3
|
252 |
398 |
2.2e-12 |
PFAM |
|
Pfam:Reprolysin_4
|
328 |
446 |
7.1e-10 |
PFAM |
|
Pfam:Reprolysin
|
334 |
450 |
2e-18 |
PFAM |
|
Blast:ACR
|
454 |
533 |
3e-12 |
BLAST |
|
TSP1
|
544 |
596 |
2.2e-15 |
SMART |
|
Pfam:ADAM_spacer1
|
698 |
808 |
6.4e-30 |
PFAM |
|
TSP1
|
829 |
887 |
1.81e-1 |
SMART |
|
TSP1
|
889 |
942 |
1.15e-4 |
SMART |
|
TSP1
|
949 |
993 |
4.05e-5 |
SMART |
|
TSP1
|
1000 |
1054 |
2.91e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107478
AA Change: C986Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145
AA Change: C986Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
34 |
180 |
3.1e-23 |
PFAM |
|
Pfam:Reprolysin_5
|
228 |
424 |
3.2e-15 |
PFAM |
|
Pfam:Reprolysin_2
|
248 |
440 |
5.9e-11 |
PFAM |
|
Pfam:Reprolysin_3
|
252 |
398 |
6e-12 |
PFAM |
|
Pfam:Reprolysin_4
|
328 |
446 |
6.8e-10 |
PFAM |
|
Pfam:Reprolysin
|
334 |
450 |
4.3e-21 |
PFAM |
|
Blast:ACR
|
454 |
533 |
3e-12 |
BLAST |
|
TSP1
|
544 |
596 |
2.2e-15 |
SMART |
|
Pfam:ADAM_spacer1
|
700 |
781 |
2.2e-16 |
PFAM |
|
TSP1
|
802 |
860 |
1.81e-1 |
SMART |
|
TSP1
|
862 |
915 |
1.15e-4 |
SMART |
|
TSP1
|
922 |
966 |
4.05e-5 |
SMART |
|
TSP1
|
973 |
1027 |
2.91e-6 |
SMART |
|
Pfam:PLAC
|
1046 |
1080 |
1.1e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.9651 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
C |
6: 92,805,046 (GRCm39) |
|
probably benign |
Het |
| AI987944 |
A |
G |
7: 41,024,763 (GRCm39) |
V75A |
probably benign |
Het |
| Arhgap10 |
T |
C |
8: 78,244,378 (GRCm39) |
Y12C |
probably damaging |
Het |
| Atp11b |
G |
A |
3: 35,832,162 (GRCm39) |
|
probably benign |
Het |
| Ccer1 |
T |
A |
10: 97,530,520 (GRCm39) |
D394E |
possibly damaging |
Het |
| Cdh2 |
T |
C |
18: 16,777,016 (GRCm39) |
N273S |
possibly damaging |
Het |
| Cfap65 |
G |
T |
1: 74,957,663 (GRCm39) |
|
probably benign |
Het |
| Crybb3 |
A |
T |
5: 113,228,444 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
G |
A |
7: 133,950,663 (GRCm39) |
Q337* |
probably null |
Het |
| Dixdc1 |
C |
T |
9: 50,588,293 (GRCm39) |
|
probably benign |
Het |
| Dut |
GCGGC |
GCGGCCGGC |
2: 125,089,748 (GRCm39) |
|
probably null |
Het |
| Fbxo2 |
A |
G |
4: 148,250,234 (GRCm39) |
|
probably null |
Het |
| Gm5174 |
T |
C |
10: 86,491,972 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,076,643 (GRCm39) |
|
probably benign |
Het |
| Il12a |
C |
T |
3: 68,602,666 (GRCm39) |
T112M |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,487,657 (GRCm39) |
V2361D |
possibly damaging |
Het |
| Jag1 |
G |
A |
2: 136,938,152 (GRCm39) |
L283F |
probably damaging |
Het |
| Lamb2 |
A |
C |
9: 108,360,892 (GRCm39) |
D538A |
probably benign |
Het |
| Map10 |
T |
A |
8: 126,397,178 (GRCm39) |
C190* |
probably null |
Het |
| Pcnx2 |
C |
T |
8: 126,498,843 (GRCm39) |
R1552H |
probably damaging |
Het |
| Phf1 |
T |
C |
17: 27,156,244 (GRCm39) |
|
probably benign |
Het |
| Pitx2 |
A |
G |
3: 129,012,418 (GRCm39) |
T276A |
probably damaging |
Het |
| Pparg |
A |
G |
6: 115,467,107 (GRCm39) |
D490G |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,398,163 (GRCm39) |
|
probably benign |
Het |
| Sbp |
T |
C |
17: 24,161,704 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,900,841 (GRCm39) |
L942H |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Sfmbt1 |
A |
T |
14: 30,509,498 (GRCm39) |
N326Y |
possibly damaging |
Het |
| Slx4 |
G |
A |
16: 3,808,774 (GRCm39) |
Q389* |
probably null |
Het |
| Srrm3 |
T |
A |
5: 135,883,263 (GRCm39) |
V206E |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,447,933 (GRCm39) |
D2270E |
possibly damaging |
Het |
| Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,184 (GRCm39) |
I210N |
probably damaging |
Het |
| Wasf3 |
T |
G |
5: 146,372,182 (GRCm39) |
L13R |
probably damaging |
Het |
| Yes1 |
T |
C |
5: 32,809,101 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
T |
C |
4: 34,807,569 (GRCm39) |
D1830G |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,637 (GRCm39) |
N430S |
probably benign |
Het |
|
| Other mutations in Adamts17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00708:Adamts17
|
APN |
7 |
66,618,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00950:Adamts17
|
APN |
7 |
66,770,660 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01532:Adamts17
|
APN |
7 |
66,558,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01591:Adamts17
|
APN |
7 |
66,654,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01602:Adamts17
|
APN |
7 |
66,538,159 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01640:Adamts17
|
APN |
7 |
66,679,428 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01686:Adamts17
|
APN |
7 |
66,490,037 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01747:Adamts17
|
APN |
7 |
66,701,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02081:Adamts17
|
APN |
7 |
66,711,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02152:Adamts17
|
APN |
7 |
66,774,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02264:Adamts17
|
APN |
7 |
66,697,207 (GRCm39) |
splice site |
probably null |
|
|
IGL02457:Adamts17
|
APN |
7 |
66,677,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02519:Adamts17
|
APN |
7 |
66,774,721 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02530:Adamts17
|
APN |
7 |
66,559,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02649:Adamts17
|
APN |
7 |
66,499,626 (GRCm39) |
splice site |
probably benign |
|
|
IGL02711:Adamts17
|
APN |
7 |
66,701,788 (GRCm39) |
splice site |
probably benign |
|
|
IGL03006:Adamts17
|
APN |
7 |
66,728,095 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03203:Adamts17
|
APN |
7 |
66,711,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Adamts17
|
APN |
7 |
66,725,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB007:Adamts17
|
UTSW |
7 |
66,499,547 (GRCm39) |
missense |
probably damaging |
0.96 |
|
BB017:Adamts17
|
UTSW |
7 |
66,499,547 (GRCm39) |
missense |
probably damaging |
0.96 |
|
E2594:Adamts17
|
UTSW |
7 |
66,654,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0380:Adamts17
|
UTSW |
7 |
66,799,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0416:Adamts17
|
UTSW |
7 |
66,565,646 (GRCm39) |
splice site |
probably null |
|
|
R0635:Adamts17
|
UTSW |
7 |
66,558,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1476:Adamts17
|
UTSW |
7 |
66,725,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Adamts17
|
UTSW |
7 |
66,799,704 (GRCm39) |
nonsense |
probably null |
|
|
R1729:Adamts17
|
UTSW |
7 |
66,799,704 (GRCm39) |
nonsense |
probably null |
|
|
R1763:Adamts17
|
UTSW |
7 |
66,797,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Adamts17
|
UTSW |
7 |
66,799,704 (GRCm39) |
nonsense |
probably null |
|
|
R1905:Adamts17
|
UTSW |
7 |
66,697,220 (GRCm39) |
nonsense |
probably null |
|
|
R1938:Adamts17
|
UTSW |
7 |
66,774,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3106:Adamts17
|
UTSW |
7 |
66,774,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3796:Adamts17
|
UTSW |
7 |
66,489,662 (GRCm39) |
splice site |
probably null |
|
|
R3849:Adamts17
|
UTSW |
7 |
66,490,215 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3850:Adamts17
|
UTSW |
7 |
66,490,215 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3945:Adamts17
|
UTSW |
7 |
66,770,687 (GRCm39) |
missense |
probably benign |
|
|
R4519:Adamts17
|
UTSW |
7 |
66,490,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4554:Adamts17
|
UTSW |
7 |
66,677,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4555:Adamts17
|
UTSW |
7 |
66,677,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4556:Adamts17
|
UTSW |
7 |
66,677,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4557:Adamts17
|
UTSW |
7 |
66,677,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Adamts17
|
UTSW |
7 |
66,691,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4752:Adamts17
|
UTSW |
7 |
66,654,218 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5019:Adamts17
|
UTSW |
7 |
66,711,818 (GRCm39) |
nonsense |
probably null |
|
|
R5438:Adamts17
|
UTSW |
7 |
66,538,165 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5444:Adamts17
|
UTSW |
7 |
66,691,647 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5673:Adamts17
|
UTSW |
7 |
66,691,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Adamts17
|
UTSW |
7 |
66,770,636 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6964:Adamts17
|
UTSW |
7 |
66,654,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6964:Adamts17
|
UTSW |
7 |
66,559,148 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7129:Adamts17
|
UTSW |
7 |
66,770,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7317:Adamts17
|
UTSW |
7 |
66,490,304 (GRCm39) |
nonsense |
probably null |
|
|
R7355:Adamts17
|
UTSW |
7 |
66,725,052 (GRCm39) |
missense |
|
|
|
R7386:Adamts17
|
UTSW |
7 |
66,618,597 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7407:Adamts17
|
UTSW |
7 |
66,697,304 (GRCm39) |
nonsense |
probably null |
|
|
R7432:Adamts17
|
UTSW |
7 |
66,701,665 (GRCm39) |
missense |
|
|
|
R7782:Adamts17
|
UTSW |
7 |
66,774,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Adamts17
|
UTSW |
7 |
66,559,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7930:Adamts17
|
UTSW |
7 |
66,499,547 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7993:Adamts17
|
UTSW |
7 |
66,499,612 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8178:Adamts17
|
UTSW |
7 |
66,499,464 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8962:Adamts17
|
UTSW |
7 |
66,725,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9095:Adamts17
|
UTSW |
7 |
66,654,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9111:Adamts17
|
UTSW |
7 |
66,489,648 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9303:Adamts17
|
UTSW |
7 |
66,489,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9305:Adamts17
|
UTSW |
7 |
66,489,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9505:Adamts17
|
UTSW |
7 |
66,774,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9668:Adamts17
|
UTSW |
7 |
66,797,438 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
X0022:Adamts17
|
UTSW |
7 |
66,691,649 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATTCTTTCAGCAGGTAGTGAGC -3'
(R):5'- TTCAGCCCTAGCAAATGTCAGCC -3'
Sequencing Primer
(F):5'- TGAGCATCCTTGACATGCAG -3'
(R):5'- TGCTCAAAGAAGATGGCTTCC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation