Incidental Mutation 'R1924:Adamts13'
ID |
213255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts13
|
Ensembl Gene |
ENSMUSG00000014852 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 13 |
Synonyms |
vWF-CP mRNA for von Willebrand factor-cleaving, LOC279028 |
MMRRC Submission |
039942-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R1924 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 26874153 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 434
(Q434L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014996]
[ENSMUST00000102891]
|
AlphaFold |
Q769J6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014996
AA Change: Q434L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000014996 Gene: ENSMUSG00000014852 AA Change: Q434L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:Reprolysin_4
|
84 |
287 |
2.3e-11 |
PFAM |
Pfam:Reprolysin
|
84 |
291 |
1e-15 |
PFAM |
Pfam:Reprolysin_3
|
113 |
237 |
2e-10 |
PFAM |
Pfam:Reprolysin_2
|
132 |
281 |
5e-9 |
PFAM |
TSP1
|
392 |
444 |
3.29e-14 |
SMART |
TSP1
|
693 |
748 |
7.01e0 |
SMART |
TSP1
|
750 |
810 |
3.34e-6 |
SMART |
TSP1
|
904 |
959 |
5.85e0 |
SMART |
TSP1
|
961 |
1019 |
2.69e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102891
AA Change: Q434L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099955 Gene: ENSMUSG00000014852 AA Change: Q434L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:Reprolysin_4
|
84 |
287 |
8.5e-11 |
PFAM |
Pfam:Reprolysin
|
96 |
291 |
4.9e-14 |
PFAM |
Pfam:Reprolysin_3
|
106 |
237 |
5.6e-11 |
PFAM |
TSP1
|
392 |
444 |
3.29e-14 |
SMART |
TSP1
|
693 |
748 |
7.01e0 |
SMART |
TSP1
|
750 |
810 |
3.34e-6 |
SMART |
TSP1
|
904 |
959 |
5.85e0 |
SMART |
TSP1
|
961 |
1019 |
2.69e0 |
SMART |
Blast:TSP1
|
1022 |
1079 |
4e-26 |
BLAST |
TSP1
|
1081 |
1137 |
4.58e-4 |
SMART |
Blast:CUB
|
1196 |
1293 |
2e-39 |
BLAST |
Blast:CUB
|
1303 |
1412 |
3e-63 |
BLAST |
|
Meta Mutation Damage Score |
0.4588 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
Validation Efficiency |
94% (63/67) |
MGI Phenotype |
FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. In certain mouse strains (C57BL/6, for example) an intracisternal A-type particle (IAP) retrotransposon sequence is located in the intron 23 that causes an alternate splicing event resulting in a shorter transcript variants encoding shorter isoforms. The encoded preproprotein undergoes proteolytic processing to generate an active enzyme that cleaves von Willebrand factor (VWF) in circulating blood. [provided by RefSeq, Jul 2016] PHENOTYPE: Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile. [provided by MGI curators]
|
Allele List at MGI |
All alleles(10) : Targeted(7) Gene trapped(2) Spontaneous(1)
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
G |
A |
5: 114,368,781 (GRCm39) |
M1666I |
possibly damaging |
Het |
Adgrg3 |
G |
A |
8: 95,762,562 (GRCm39) |
R204H |
probably benign |
Het |
Arhgef28 |
A |
C |
13: 98,073,324 (GRCm39) |
|
probably benign |
Het |
AU041133 |
T |
A |
10: 81,987,101 (GRCm39) |
C251* |
probably null |
Het |
Axin2 |
T |
A |
11: 108,833,794 (GRCm39) |
N580K |
probably benign |
Het |
C4b |
A |
G |
17: 34,948,631 (GRCm39) |
C1560R |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,334,880 (GRCm39) |
I809T |
possibly damaging |
Het |
Cacna1s |
C |
A |
1: 136,016,755 (GRCm39) |
|
probably null |
Het |
Cadps2 |
T |
C |
6: 23,688,857 (GRCm39) |
S151G |
probably damaging |
Het |
Capn1 |
T |
C |
19: 6,040,086 (GRCm39) |
|
probably null |
Het |
Capn9 |
A |
G |
8: 125,302,965 (GRCm39) |
S28G |
probably benign |
Het |
Ccdc73 |
A |
G |
2: 104,822,637 (GRCm39) |
D862G |
probably damaging |
Het |
Cdk17 |
T |
C |
10: 93,061,979 (GRCm39) |
L237P |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,440,802 (GRCm39) |
I1120V |
possibly damaging |
Het |
Chad |
A |
C |
11: 94,456,384 (GRCm39) |
N154T |
possibly damaging |
Het |
Cog1 |
C |
T |
11: 113,547,038 (GRCm39) |
T544I |
probably benign |
Het |
Cracd |
A |
T |
5: 77,006,470 (GRCm39) |
T944S |
unknown |
Het |
Ctnna2 |
T |
C |
6: 76,931,830 (GRCm39) |
E590G |
possibly damaging |
Het |
Dapk2 |
T |
A |
9: 66,072,642 (GRCm39) |
M6K |
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,421,487 (GRCm39) |
E311G |
possibly damaging |
Het |
Ddr2 |
T |
A |
1: 169,809,641 (GRCm39) |
T779S |
probably benign |
Het |
Dhtkd1 |
A |
G |
2: 5,916,744 (GRCm39) |
V644A |
probably damaging |
Het |
Dock2 |
A |
G |
11: 34,414,934 (GRCm39) |
V147A |
possibly damaging |
Het |
Ear10 |
A |
T |
14: 44,160,357 (GRCm39) |
*157K |
probably null |
Het |
Gm10801 |
T |
C |
2: 98,494,197 (GRCm39) |
I113T |
probably damaging |
Het |
Gmps |
T |
G |
3: 63,906,049 (GRCm39) |
C449G |
probably damaging |
Het |
Grin3a |
A |
G |
4: 49,844,988 (GRCm39) |
S32P |
possibly damaging |
Het |
Igkv1-115 |
A |
T |
6: 68,138,592 (GRCm39) |
D65V |
probably damaging |
Het |
Klk1b4 |
A |
G |
7: 43,859,105 (GRCm39) |
N41S |
probably benign |
Het |
Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
Lrrc8a |
T |
A |
2: 30,145,262 (GRCm39) |
D25E |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,421,960 (GRCm39) |
R4426G |
possibly damaging |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Myo5a |
G |
T |
9: 75,023,489 (GRCm39) |
D17Y |
probably damaging |
Het |
Nat1 |
C |
G |
8: 67,944,076 (GRCm39) |
L154V |
probably benign |
Het |
Nek3 |
T |
A |
8: 22,647,047 (GRCm39) |
T163S |
probably damaging |
Het |
Or2w25 |
G |
T |
11: 59,503,949 (GRCm39) |
R53L |
possibly damaging |
Het |
Or5p80 |
A |
G |
7: 108,229,562 (GRCm39) |
D121G |
probably damaging |
Het |
Or6c204 |
A |
G |
10: 129,023,044 (GRCm39) |
I82T |
possibly damaging |
Het |
Or8d2b |
T |
A |
9: 38,789,147 (GRCm39) |
I225N |
probably damaging |
Het |
Or8g32 |
A |
T |
9: 39,305,163 (GRCm39) |
E22D |
possibly damaging |
Het |
Or9s13 |
T |
C |
1: 92,548,525 (GRCm39) |
L299P |
probably damaging |
Het |
Osr1 |
T |
G |
12: 9,629,268 (GRCm39) |
L47R |
probably damaging |
Het |
Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
Pik3ap1 |
T |
A |
19: 41,291,053 (GRCm39) |
N493I |
possibly damaging |
Het |
Polr3e |
T |
A |
7: 120,539,820 (GRCm39) |
N522K |
probably damaging |
Het |
Rabgap1 |
T |
A |
2: 37,385,771 (GRCm39) |
|
probably null |
Het |
Rp1l1 |
C |
A |
14: 64,268,992 (GRCm39) |
A1526E |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,291,878 (GRCm39) |
I1623F |
probably damaging |
Het |
Serpinb9e |
A |
G |
13: 33,437,428 (GRCm39) |
T104A |
probably benign |
Het |
Sh3rf3 |
T |
C |
10: 58,939,989 (GRCm39) |
|
probably benign |
Het |
Slc30a3 |
A |
G |
5: 31,245,748 (GRCm39) |
Y213H |
probably damaging |
Het |
Sptbn4 |
C |
T |
7: 27,106,563 (GRCm39) |
R955H |
probably damaging |
Het |
Tfb1m |
A |
T |
17: 3,569,946 (GRCm39) |
Y307N |
probably damaging |
Het |
Tnrc6b |
G |
T |
15: 80,768,407 (GRCm39) |
|
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ulk1 |
A |
G |
5: 110,938,936 (GRCm39) |
Y501H |
probably damaging |
Het |
Zbtb17 |
A |
G |
4: 141,191,914 (GRCm39) |
H315R |
probably damaging |
Het |
Zeb2 |
A |
G |
2: 44,892,624 (GRCm39) |
Y142H |
probably damaging |
Het |
Zfr |
T |
C |
15: 12,160,715 (GRCm39) |
S763P |
possibly damaging |
Het |
|
Other mutations in Adamts13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Adamts13
|
APN |
2 |
26,895,373 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00465:Adamts13
|
APN |
2 |
26,863,567 (GRCm39) |
missense |
probably benign |
0.32 |
IGL01114:Adamts13
|
APN |
2 |
26,895,202 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01138:Adamts13
|
APN |
2 |
26,873,054 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01154:Adamts13
|
APN |
2 |
26,896,206 (GRCm39) |
missense |
probably benign |
|
IGL01860:Adamts13
|
APN |
2 |
26,868,023 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01924:Adamts13
|
APN |
2 |
26,886,595 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01991:Adamts13
|
APN |
2 |
26,880,610 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02215:Adamts13
|
APN |
2 |
26,875,495 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02415:Adamts13
|
APN |
2 |
26,879,295 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02519:Adamts13
|
APN |
2 |
26,868,687 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02956:Adamts13
|
APN |
2 |
26,873,049 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03209:Adamts13
|
APN |
2 |
26,882,973 (GRCm39) |
missense |
probably benign |
0.00 |
I1329:Adamts13
|
UTSW |
2 |
26,863,631 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL02837:Adamts13
|
UTSW |
2 |
26,881,432 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03048:Adamts13
|
UTSW |
2 |
26,868,711 (GRCm39) |
critical splice donor site |
probably null |
|
R0041:Adamts13
|
UTSW |
2 |
26,873,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R0217:Adamts13
|
UTSW |
2 |
26,886,933 (GRCm39) |
splice site |
probably benign |
|
R0276:Adamts13
|
UTSW |
2 |
26,865,772 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0309:Adamts13
|
UTSW |
2 |
26,877,001 (GRCm39) |
missense |
probably damaging |
0.99 |
R0348:Adamts13
|
UTSW |
2 |
26,871,092 (GRCm39) |
missense |
probably benign |
0.13 |
R0369:Adamts13
|
UTSW |
2 |
26,895,198 (GRCm39) |
missense |
probably benign |
0.00 |
R0386:Adamts13
|
UTSW |
2 |
26,876,691 (GRCm39) |
splice site |
probably null |
|
R0553:Adamts13
|
UTSW |
2 |
26,881,346 (GRCm39) |
nonsense |
probably null |
|
R0714:Adamts13
|
UTSW |
2 |
26,876,997 (GRCm39) |
splice site |
probably benign |
|
R0862:Adamts13
|
UTSW |
2 |
26,896,336 (GRCm39) |
critical splice donor site |
probably null |
|
R1320:Adamts13
|
UTSW |
2 |
26,879,258 (GRCm39) |
missense |
probably damaging |
0.97 |
R1458:Adamts13
|
UTSW |
2 |
26,878,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R1473:Adamts13
|
UTSW |
2 |
26,871,765 (GRCm39) |
nonsense |
probably null |
|
R1491:Adamts13
|
UTSW |
2 |
26,868,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R1588:Adamts13
|
UTSW |
2 |
26,865,687 (GRCm39) |
missense |
probably benign |
0.01 |
R1638:Adamts13
|
UTSW |
2 |
26,886,595 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1724:Adamts13
|
UTSW |
2 |
26,881,306 (GRCm39) |
missense |
probably benign |
0.00 |
R2001:Adamts13
|
UTSW |
2 |
26,864,002 (GRCm39) |
missense |
probably benign |
|
R2072:Adamts13
|
UTSW |
2 |
26,895,437 (GRCm39) |
missense |
probably benign |
0.10 |
R2073:Adamts13
|
UTSW |
2 |
26,896,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R2409:Adamts13
|
UTSW |
2 |
26,868,374 (GRCm39) |
missense |
probably benign |
0.00 |
R4362:Adamts13
|
UTSW |
2 |
26,894,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R4363:Adamts13
|
UTSW |
2 |
26,894,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R4422:Adamts13
|
UTSW |
2 |
26,895,412 (GRCm39) |
missense |
probably benign |
0.00 |
R4769:Adamts13
|
UTSW |
2 |
26,898,723 (GRCm39) |
nonsense |
probably null |
|
R4785:Adamts13
|
UTSW |
2 |
26,873,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R4831:Adamts13
|
UTSW |
2 |
26,873,142 (GRCm39) |
critical splice donor site |
probably null |
|
R4832:Adamts13
|
UTSW |
2 |
26,879,414 (GRCm39) |
missense |
probably benign |
0.22 |
R4945:Adamts13
|
UTSW |
2 |
26,876,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R5047:Adamts13
|
UTSW |
2 |
26,886,922 (GRCm39) |
missense |
probably damaging |
0.98 |
R5126:Adamts13
|
UTSW |
2 |
26,886,927 (GRCm39) |
critical splice donor site |
probably null |
|
R5161:Adamts13
|
UTSW |
2 |
26,883,020 (GRCm39) |
missense |
probably benign |
0.00 |
R5394:Adamts13
|
UTSW |
2 |
26,876,570 (GRCm39) |
missense |
probably benign |
0.00 |
R5557:Adamts13
|
UTSW |
2 |
26,863,651 (GRCm39) |
missense |
probably benign |
0.05 |
R5660:Adamts13
|
UTSW |
2 |
26,886,761 (GRCm39) |
missense |
probably benign |
|
R5890:Adamts13
|
UTSW |
2 |
26,876,603 (GRCm39) |
missense |
probably damaging |
0.96 |
R6168:Adamts13
|
UTSW |
2 |
26,894,898 (GRCm39) |
missense |
probably benign |
0.37 |
R6536:Adamts13
|
UTSW |
2 |
26,865,762 (GRCm39) |
missense |
probably damaging |
0.99 |
R6929:Adamts13
|
UTSW |
2 |
26,896,275 (GRCm39) |
nonsense |
probably null |
|
R7207:Adamts13
|
UTSW |
2 |
26,868,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R7211:Adamts13
|
UTSW |
2 |
26,879,310 (GRCm39) |
missense |
probably benign |
0.40 |
R7212:Adamts13
|
UTSW |
2 |
26,896,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R7392:Adamts13
|
UTSW |
2 |
26,879,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R7583:Adamts13
|
UTSW |
2 |
26,863,965 (GRCm39) |
missense |
probably benign |
|
R7604:Adamts13
|
UTSW |
2 |
26,895,218 (GRCm39) |
missense |
probably benign |
0.00 |
R7783:Adamts13
|
UTSW |
2 |
26,880,597 (GRCm39) |
missense |
not run |
|
R7814:Adamts13
|
UTSW |
2 |
26,886,561 (GRCm39) |
missense |
probably benign |
|
R8076:Adamts13
|
UTSW |
2 |
26,880,624 (GRCm39) |
missense |
probably benign |
0.06 |
R8245:Adamts13
|
UTSW |
2 |
26,880,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R8526:Adamts13
|
UTSW |
2 |
26,868,012 (GRCm39) |
missense |
probably benign |
|
R9112:Adamts13
|
UTSW |
2 |
26,880,379 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9147:Adamts13
|
UTSW |
2 |
26,883,024 (GRCm39) |
missense |
probably benign |
|
R9148:Adamts13
|
UTSW |
2 |
26,883,024 (GRCm39) |
missense |
probably benign |
|
R9704:Adamts13
|
UTSW |
2 |
26,895,237 (GRCm39) |
missense |
|
|
R9743:Adamts13
|
UTSW |
2 |
26,895,491 (GRCm39) |
critical splice donor site |
probably null |
|
R9743:Adamts13
|
UTSW |
2 |
26,886,812 (GRCm39) |
missense |
probably benign |
0.16 |
X0027:Adamts13
|
UTSW |
2 |
26,875,558 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGACACTGGTCTAGCTGG -3'
(R):5'- TCACATCAGTGTCTAAATGAAACAC -3'
Sequencing Primer
(F):5'- TGCTCCCGATCCTGTGGAG -3'
(R):5'- GAAACACTTTTCACTGTGTACCC -3'
|
Posted On |
2014-07-14 |