Incidental Mutation 'R1434:Adamtsl4'
| ID |
159365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl4
|
| Ensembl Gene |
ENSMUSG00000015850 |
| Gene Name |
ADAMTS-like 4 |
| Synonyms |
Tsrc1 |
| MMRRC Submission |
039489-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1434 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95583511-95595228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95588094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 631
(Y631C)
|
| 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: Y631C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000015994
Gene: ENSMUSG00000015850
AA Change: Y631C
| 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: Y631C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113424
Gene: ENSMUSG00000015850
AA Change: Y631C
| 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
|
| Meta Mutation Damage Score |
0.3158 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,348,959 (GRCm39) |
H851N |
probably benign |
Het |
| Ankhd1 |
A |
G |
18: 36,758,212 (GRCm39) |
I969V |
probably benign |
Het |
| Apob |
A |
G |
12: 8,059,715 (GRCm39) |
I2699M |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,980,890 (GRCm39) |
L297Q |
probably damaging |
Het |
| Arb2a |
A |
T |
13: 77,910,041 (GRCm39) |
Y98F |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,835,190 (GRCm39) |
Y301H |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,905,425 (GRCm39) |
|
probably benign |
Het |
| Cd209b |
T |
A |
8: 3,973,367 (GRCm39) |
I106F |
possibly damaging |
Het |
| Cdkn1b |
T |
A |
6: 134,898,060 (GRCm39) |
W60R |
probably damaging |
Het |
| Coasy |
A |
G |
11: 100,975,822 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
T |
A |
15: 97,877,532 (GRCm39) |
Q1017L |
probably damaging |
Het |
| Cspg4b |
G |
A |
13: 113,505,026 (GRCm39) |
V510I |
possibly damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,847,971 (GRCm39) |
N56I |
probably damaging |
Het |
| Cyb561d2 |
T |
A |
9: 107,418,842 (GRCm39) |
|
probably benign |
Het |
| Dcst1 |
G |
T |
3: 89,259,826 (GRCm39) |
T632N |
probably damaging |
Het |
| Ddx1 |
C |
T |
12: 13,287,232 (GRCm39) |
V267I |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,852,050 (GRCm39) |
M1736L |
probably benign |
Het |
| Eln |
G |
A |
5: 134,758,291 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
T |
A |
4: 56,781,193 (GRCm39) |
E493D |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,726,077 (GRCm39) |
D566E |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,085,743 (GRCm39) |
K638R |
probably damaging |
Het |
| Fdx2 |
C |
A |
9: 20,984,694 (GRCm39) |
G37W |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,820,193 (GRCm39) |
I340V |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,304,520 (GRCm39) |
T671A |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,356 (GRCm39) |
M20K |
probably damaging |
Het |
| Kndc1 |
C |
T |
7: 139,502,600 (GRCm39) |
S962F |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,626,054 (GRCm39) |
S750G |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,084,366 (GRCm39) |
C935R |
probably damaging |
Het |
| Lgalsl |
T |
C |
11: 20,776,418 (GRCm39) |
D158G |
possibly damaging |
Het |
| Lman1 |
A |
T |
18: 66,126,144 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
A |
G |
5: 144,111,407 (GRCm39) |
E709G |
probably damaging |
Het |
| Lrfn3 |
T |
C |
7: 30,055,352 (GRCm39) |
H531R |
possibly damaging |
Het |
| Mark3 |
A |
G |
12: 111,589,759 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
T |
C |
3: 104,702,490 (GRCm39) |
E997G |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,395,157 (GRCm39) |
W2484R |
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,459,372 (GRCm39) |
Q833K |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,897,430 (GRCm39) |
D740E |
probably benign |
Het |
| Nol12 |
A |
G |
15: 78,822,153 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,493,642 (GRCm39) |
|
probably null |
Het |
| Nsfl1c |
A |
C |
2: 151,342,666 (GRCm39) |
I79L |
probably benign |
Het |
| Or52b2 |
T |
C |
7: 104,986,468 (GRCm39) |
I152V |
probably benign |
Het |
| Or5b108 |
A |
G |
19: 13,168,662 (GRCm39) |
I210M |
probably benign |
Het |
| Or5k1 |
G |
T |
16: 58,617,811 (GRCm39) |
H133N |
probably benign |
Het |
| Osbpl8 |
A |
C |
10: 111,127,442 (GRCm39) |
E842A |
probably benign |
Het |
| Pdxk |
G |
T |
10: 78,276,645 (GRCm39) |
T310K |
probably benign |
Het |
| Phip |
T |
G |
9: 82,841,658 (GRCm39) |
K54Q |
probably damaging |
Het |
| Pklr |
A |
T |
3: 89,050,342 (GRCm39) |
D366V |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,433,848 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3a |
A |
T |
12: 101,009,783 (GRCm39) |
V618E |
probably damaging |
Het |
| Prdm12 |
A |
T |
2: 31,530,319 (GRCm39) |
Q70L |
possibly damaging |
Het |
| Ptgr3 |
A |
G |
18: 84,112,596 (GRCm39) |
K91E |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,654,849 (GRCm39) |
M706K |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,422,575 (GRCm39) |
F1606I |
probably damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,837,152 (GRCm39) |
|
probably null |
Het |
| Rlbp1 |
C |
A |
7: 79,029,661 (GRCm39) |
|
probably null |
Het |
| Rtp2 |
T |
C |
16: 23,746,193 (GRCm39) |
D166G |
probably benign |
Het |
| Ryr3 |
A |
C |
2: 112,475,604 (GRCm39) |
F4481V |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,532,335 (GRCm39) |
D649G |
possibly damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,939,950 (GRCm39) |
D655V |
probably damaging |
Het |
| Slco5a1 |
G |
A |
1: 12,942,132 (GRCm39) |
A838V |
probably benign |
Het |
| Spata6l |
G |
T |
19: 28,905,039 (GRCm39) |
|
probably benign |
Het |
| Srprb |
A |
G |
9: 103,067,501 (GRCm39) |
V239A |
probably damaging |
Het |
| Tceanc2 |
T |
C |
4: 107,004,837 (GRCm39) |
T104A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,141,493 (GRCm39) |
|
probably null |
Het |
| Unc13b |
C |
T |
4: 43,239,385 (GRCm39) |
R1056* |
probably null |
Het |
| Wdr19 |
G |
A |
5: 65,380,847 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,306,919 (GRCm39) |
H48Q |
probably benign |
Het |
| Zfp787 |
T |
A |
7: 6,135,234 (GRCm39) |
H339L |
probably damaging |
Het |
| Zfp839 |
G |
T |
12: 110,827,333 (GRCm39) |
R408L |
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 |
|
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 |
|
R4694:Adamtsl4
|
UTSW |
3 |
95,587,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGCCCCGTTTCAATGAAATCCCAG -3'
(R):5'- TCCTAGAGAGTCCTTCCACAAAGCC -3'
Sequencing Primer
(F):5'- CCCAGACATAGGGTCCAATGTAG -3'
(R):5'- TTCAGCCTCAGCCTGGTAAAAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation