Incidental Mutation 'R4694:Adamtsl4'
ID |
355542 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamtsl4
|
Ensembl Gene |
ENSMUSG00000015850 |
Gene Name |
ADAMTS-like 4 |
Synonyms |
Tsrc1 |
MMRRC Submission |
041945-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4694 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
95583511-95595228 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 95587055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 765
(R765H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113424
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015994]
[ENSMUST00000117782]
[ENSMUST00000148854]
|
AlphaFold |
Q80T21 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015994
AA Change: R765H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000015994 Gene: ENSMUSG00000015850 AA Change: R765H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
TSP1
|
46 |
96 |
1.07e-4 |
SMART |
low complexity region
|
109 |
118 |
N/A |
INTRINSIC |
low complexity region
|
160 |
172 |
N/A |
INTRINSIC |
low complexity region
|
260 |
269 |
N/A |
INTRINSIC |
Pfam:ADAM_spacer1
|
449 |
564 |
3.9e-31 |
PFAM |
low complexity region
|
607 |
623 |
N/A |
INTRINSIC |
TSP1
|
632 |
688 |
6e0 |
SMART |
TSP1
|
690 |
748 |
5.64e-4 |
SMART |
TSP1
|
750 |
806 |
7.16e-6 |
SMART |
TSP1
|
808 |
871 |
1.95e-2 |
SMART |
TSP1
|
875 |
933 |
7.86e-3 |
SMART |
TSP1
|
935 |
988 |
3.34e-6 |
SMART |
Pfam:PLAC
|
995 |
1025 |
4.2e-13 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117782
AA Change: R765H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113424 Gene: ENSMUSG00000015850 AA Change: R765H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
TSP1
|
46 |
96 |
1.07e-4 |
SMART |
low complexity region
|
109 |
118 |
N/A |
INTRINSIC |
low complexity region
|
160 |
172 |
N/A |
INTRINSIC |
low complexity region
|
260 |
269 |
N/A |
INTRINSIC |
Pfam:ADAM_spacer1
|
449 |
564 |
3e-31 |
PFAM |
low complexity region
|
607 |
623 |
N/A |
INTRINSIC |
TSP1
|
632 |
688 |
6e0 |
SMART |
TSP1
|
690 |
748 |
5.64e-4 |
SMART |
TSP1
|
750 |
806 |
7.16e-6 |
SMART |
TSP1
|
808 |
871 |
1.95e-2 |
SMART |
TSP1
|
875 |
933 |
7.86e-3 |
SMART |
TSP1
|
935 |
988 |
3.34e-6 |
SMART |
Pfam:PLAC
|
994 |
1026 |
3e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124410
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148854
|
SMART Domains |
Protein: ENSMUSP00000120844 Gene: ENSMUSG00000015850
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Blast:TSP1
|
51 |
70 |
2e-6 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151054
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the ADAMTS superfamily of secreted proteins, which contain a metalloprotease domain at the N-terminus and a C-terminal ancillary domain. ADAMTS-like proteins lack protease activity and resemble the ancillary domain of ADAMTS proteins. ADAMTS-like proteins have been implicated in regulation of the extracellular matrix. The encoded protein contains 7 thrombospondin type 1 repeats, a conserved extracellular domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,979,586 (GRCm39) |
F258Y |
probably damaging |
Het |
Bicd1 |
T |
A |
6: 149,311,051 (GRCm39) |
L42Q |
probably damaging |
Het |
Cacna1e |
C |
T |
1: 154,313,012 (GRCm39) |
|
probably null |
Het |
Capn1 |
T |
A |
19: 6,044,761 (GRCm39) |
K504* |
probably null |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,804,332 (GRCm39) |
K917R |
probably damaging |
Het |
Cp |
A |
T |
3: 20,029,049 (GRCm39) |
T509S |
probably benign |
Het |
Cyp2d10 |
T |
C |
15: 82,288,684 (GRCm39) |
D266G |
probably damaging |
Het |
Dhodh |
C |
G |
8: 110,333,048 (GRCm39) |
R7P |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,354,189 (GRCm39) |
L419P |
probably benign |
Het |
Epb41l4b |
A |
T |
4: 57,019,875 (GRCm39) |
M84K |
probably benign |
Het |
Fbln7 |
A |
G |
2: 128,722,345 (GRCm39) |
|
probably null |
Het |
Fbxw11 |
C |
T |
11: 32,592,820 (GRCm39) |
|
probably benign |
Het |
Flnc |
C |
A |
6: 29,443,447 (GRCm39) |
P543T |
probably damaging |
Het |
Grid1 |
T |
C |
14: 34,748,737 (GRCm39) |
S186P |
probably damaging |
Het |
Hcfc2 |
C |
T |
10: 82,559,534 (GRCm39) |
T382M |
probably damaging |
Het |
Hdac9 |
G |
T |
12: 34,487,246 (GRCm39) |
L73I |
probably damaging |
Het |
Hnrnpa2b1 |
A |
T |
6: 51,441,163 (GRCm39) |
D302E |
probably damaging |
Het |
Ifi204 |
C |
T |
1: 173,576,825 (GRCm39) |
C592Y |
probably damaging |
Het |
Jph1 |
T |
A |
1: 17,067,729 (GRCm39) |
I653F |
probably damaging |
Het |
Kcnj3 |
A |
G |
2: 55,484,918 (GRCm39) |
K339E |
probably benign |
Het |
Kcp |
G |
A |
6: 29,493,196 (GRCm39) |
T838I |
probably benign |
Het |
Krtap26-1 |
A |
T |
16: 88,444,108 (GRCm39) |
V171E |
possibly damaging |
Het |
Lck |
G |
T |
4: 129,442,765 (GRCm39) |
N452K |
possibly damaging |
Het |
Madd |
A |
G |
2: 90,990,673 (GRCm39) |
L1134S |
probably damaging |
Het |
Mafk |
T |
C |
5: 139,786,248 (GRCm39) |
S149P |
probably damaging |
Het |
Man1c1 |
T |
C |
4: 134,430,500 (GRCm39) |
D94G |
probably benign |
Het |
Me2 |
T |
A |
18: 73,934,930 (GRCm39) |
M38L |
probably benign |
Het |
Muc2 |
A |
C |
7: 141,306,082 (GRCm39) |
D257A |
probably damaging |
Het |
Myh11 |
T |
C |
16: 14,018,566 (GRCm39) |
K1927E |
probably damaging |
Het |
Naaladl1 |
C |
T |
19: 6,158,920 (GRCm39) |
P324S |
probably damaging |
Het |
Ndufa10 |
T |
C |
1: 92,379,824 (GRCm39) |
E303G |
probably benign |
Het |
Nedd1 |
C |
T |
10: 92,555,444 (GRCm39) |
V14I |
probably benign |
Het |
Nwd1 |
T |
G |
8: 73,393,958 (GRCm39) |
V407G |
probably damaging |
Het |
Or2h15 |
A |
C |
17: 38,441,748 (GRCm39) |
C112G |
probably damaging |
Het |
Or4b1d |
T |
A |
2: 89,968,593 (GRCm39) |
K297* |
probably null |
Het |
Or4k15c |
T |
C |
14: 50,321,476 (GRCm39) |
I221V |
probably benign |
Het |
Or5w13 |
T |
A |
2: 87,524,104 (GRCm39) |
T41S |
probably benign |
Het |
Or7g29 |
A |
G |
9: 19,286,694 (GRCm39) |
L161P |
probably damaging |
Het |
Pgrmc2 |
T |
C |
3: 41,024,840 (GRCm39) |
D144G |
probably damaging |
Het |
Ppp3cb |
T |
C |
14: 20,551,583 (GRCm39) |
N516S |
probably benign |
Het |
Pramel27 |
T |
C |
4: 143,579,530 (GRCm39) |
S372P |
probably damaging |
Het |
Prelp |
A |
G |
1: 133,842,485 (GRCm39) |
M220T |
probably damaging |
Het |
Prss36 |
A |
G |
7: 127,534,787 (GRCm39) |
W465R |
probably damaging |
Het |
Pth2r |
C |
A |
1: 65,375,920 (GRCm39) |
F59L |
probably benign |
Het |
Rab20 |
C |
T |
8: 11,504,485 (GRCm39) |
G72R |
probably damaging |
Het |
Rab4a |
G |
T |
8: 124,555,769 (GRCm39) |
G49W |
probably damaging |
Het |
Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
Rock1 |
A |
T |
18: 10,136,152 (GRCm39) |
Y178* |
probably null |
Het |
Scaf8 |
C |
A |
17: 3,247,679 (GRCm39) |
L1001I |
probably damaging |
Het |
Sema3b |
G |
A |
9: 107,482,201 (GRCm39) |
P26S |
probably benign |
Het |
Slc23a1 |
A |
G |
18: 35,752,633 (GRCm39) |
L548P |
probably damaging |
Het |
Sncaip |
A |
C |
18: 53,039,629 (GRCm39) |
T548P |
probably benign |
Het |
Stpg2 |
C |
T |
3: 139,023,177 (GRCm39) |
P398S |
possibly damaging |
Het |
Stpg3 |
A |
C |
2: 25,103,309 (GRCm39) |
V260G |
probably damaging |
Het |
Tbc1d9 |
T |
A |
8: 83,960,875 (GRCm39) |
F242I |
probably damaging |
Het |
Tnks1bp1 |
G |
A |
2: 84,902,066 (GRCm39) |
R992Q |
probably damaging |
Het |
Tom1l1 |
T |
G |
11: 90,537,675 (GRCm39) |
H394P |
possibly damaging |
Het |
Topors |
T |
G |
4: 40,261,442 (GRCm39) |
N614T |
possibly damaging |
Het |
Trank1 |
A |
T |
9: 111,221,129 (GRCm39) |
Q2622L |
probably benign |
Het |
Trub2 |
A |
G |
2: 29,668,858 (GRCm39) |
S186P |
probably damaging |
Het |
Unc13c |
T |
A |
9: 73,479,636 (GRCm39) |
H1756L |
probably benign |
Het |
Vmn1r9 |
A |
T |
6: 57,048,314 (GRCm39) |
I130F |
probably benign |
Het |
Wdr72 |
A |
T |
9: 74,086,837 (GRCm39) |
I602F |
probably damaging |
Het |
Zfand3 |
T |
A |
17: 30,354,362 (GRCm39) |
F60I |
possibly damaging |
Het |
Zfp946 |
G |
A |
17: 22,674,692 (GRCm39) |
G482E |
probably benign |
Het |
|
Other mutations in Adamtsl4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01475:Adamtsl4
|
APN |
3 |
95,584,843 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01685:Adamtsl4
|
APN |
3 |
95,591,905 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01707:Adamtsl4
|
APN |
3 |
95,591,301 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02105:Adamtsl4
|
APN |
3 |
95,587,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02545:Adamtsl4
|
APN |
3 |
95,590,684 (GRCm39) |
nonsense |
probably null |
|
IGL03089:Adamtsl4
|
APN |
3 |
95,584,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R0099:Adamtsl4
|
UTSW |
3 |
95,591,449 (GRCm39) |
missense |
probably benign |
0.00 |
R0718:Adamtsl4
|
UTSW |
3 |
95,586,918 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0962:Adamtsl4
|
UTSW |
3 |
95,591,798 (GRCm39) |
nonsense |
probably null |
|
R1157:Adamtsl4
|
UTSW |
3 |
95,590,971 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1434:Adamtsl4
|
UTSW |
3 |
95,588,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R1486:Adamtsl4
|
UTSW |
3 |
95,589,166 (GRCm39) |
missense |
probably benign |
0.23 |
R1579:Adamtsl4
|
UTSW |
3 |
95,592,807 (GRCm39) |
start gained |
probably benign |
|
R1703:Adamtsl4
|
UTSW |
3 |
95,584,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R1757:Adamtsl4
|
UTSW |
3 |
95,585,252 (GRCm39) |
missense |
probably benign |
0.00 |
R2018:Adamtsl4
|
UTSW |
3 |
95,588,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R2108:Adamtsl4
|
UTSW |
3 |
95,588,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R3889:Adamtsl4
|
UTSW |
3 |
95,588,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R4062:Adamtsl4
|
UTSW |
3 |
95,584,864 (GRCm39) |
missense |
probably benign |
0.00 |
R4063:Adamtsl4
|
UTSW |
3 |
95,584,864 (GRCm39) |
missense |
probably benign |
0.00 |
R4124:Adamtsl4
|
UTSW |
3 |
95,588,982 (GRCm39) |
missense |
probably benign |
0.21 |
R4128:Adamtsl4
|
UTSW |
3 |
95,588,982 (GRCm39) |
missense |
probably benign |
0.21 |
R4432:Adamtsl4
|
UTSW |
3 |
95,589,069 (GRCm39) |
splice site |
probably null |
|
R4433:Adamtsl4
|
UTSW |
3 |
95,589,069 (GRCm39) |
splice site |
probably null |
|
R4643:Adamtsl4
|
UTSW |
3 |
95,591,929 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4719:Adamtsl4
|
UTSW |
3 |
95,586,896 (GRCm39) |
critical splice donor site |
probably null |
|
R4929:Adamtsl4
|
UTSW |
3 |
95,585,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R5044:Adamtsl4
|
UTSW |
3 |
95,588,960 (GRCm39) |
critical splice donor site |
probably null |
|
R5212:Adamtsl4
|
UTSW |
3 |
95,584,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R5234:Adamtsl4
|
UTSW |
3 |
95,588,230 (GRCm39) |
missense |
probably benign |
0.00 |
R5268:Adamtsl4
|
UTSW |
3 |
95,587,473 (GRCm39) |
missense |
probably damaging |
0.98 |
R5473:Adamtsl4
|
UTSW |
3 |
95,587,303 (GRCm39) |
missense |
probably damaging |
0.98 |
R5509:Adamtsl4
|
UTSW |
3 |
95,588,667 (GRCm39) |
missense |
probably benign |
0.00 |
R5566:Adamtsl4
|
UTSW |
3 |
95,592,765 (GRCm39) |
critical splice donor site |
probably null |
|
R5891:Adamtsl4
|
UTSW |
3 |
95,589,623 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5906:Adamtsl4
|
UTSW |
3 |
95,588,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R6224:Adamtsl4
|
UTSW |
3 |
95,589,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R6530:Adamtsl4
|
UTSW |
3 |
95,588,364 (GRCm39) |
missense |
probably benign |
0.00 |
R6861:Adamtsl4
|
UTSW |
3 |
95,588,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R7199:Adamtsl4
|
UTSW |
3 |
95,588,119 (GRCm39) |
missense |
probably benign |
0.00 |
R8083:Adamtsl4
|
UTSW |
3 |
95,591,711 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8251:Adamtsl4
|
UTSW |
3 |
95,591,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R8701:Adamtsl4
|
UTSW |
3 |
95,592,276 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8723:Adamtsl4
|
UTSW |
3 |
95,584,426 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8724:Adamtsl4
|
UTSW |
3 |
95,584,426 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8725:Adamtsl4
|
UTSW |
3 |
95,584,426 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8786:Adamtsl4
|
UTSW |
3 |
95,592,784 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
R9218:Adamtsl4
|
UTSW |
3 |
95,588,404 (GRCm39) |
nonsense |
probably null |
|
R9257:Adamtsl4
|
UTSW |
3 |
95,588,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R9632:Adamtsl4
|
UTSW |
3 |
95,589,090 (GRCm39) |
missense |
probably damaging |
0.96 |
R9749:Adamtsl4
|
UTSW |
3 |
95,591,457 (GRCm39) |
missense |
probably benign |
|
X0028:Adamtsl4
|
UTSW |
3 |
95,584,274 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCCAGAAGTATAGGACCCAC -3'
(R):5'- GGCTCCAAAGAATTTCCACCTTTTC -3'
Sequencing Primer
(F):5'- GGACCCACCTTGGAACTCC -3'
(R):5'- ACTTTCCAAACAAGACCTCTATGG -3'
|
Posted On |
2015-10-21 |