Incidental Mutation 'R1579:Adamtsl4'
| ID |
171271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl4
|
| Ensembl Gene |
ENSMUSG00000015850 |
| Gene Name |
ADAMTS-like 4 |
| Synonyms |
Tsrc1 |
| MMRRC Submission |
039616-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1579 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95583511-95595228 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to A
at 95592807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015994]
[ENSMUST00000117782]
[ENSMUST00000148854]
|
| AlphaFold |
Q80T21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015994
|
| SMART Domains |
Protein: ENSMUSP00000015994
Gene: ENSMUSG00000015850
| 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 benign
Transcript: ENSMUST00000117782
|
| SMART Domains |
Protein: ENSMUSP00000113424
Gene: ENSMUSG00000015850
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
T |
C |
16: 3,724,039 (GRCm39) |
R162G |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,711,898 (GRCm39) |
L306H |
probably damaging |
Het |
| Aknad1 |
T |
A |
3: 108,659,452 (GRCm39) |
Y155* |
probably null |
Het |
| Aldh6a1 |
C |
T |
12: 84,488,622 (GRCm39) |
R88H |
possibly damaging |
Het |
| Apc2 |
G |
C |
10: 80,147,179 (GRCm39) |
K715N |
probably damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,864,811 (GRCm39) |
V798M |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,163,881 (GRCm39) |
T437A |
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,561,220 (GRCm39) |
F183L |
probably damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cntnap4 |
A |
G |
8: 113,608,462 (GRCm39) |
E1294G |
possibly damaging |
Het |
| Crybg3 |
C |
A |
16: 59,350,561 (GRCm39) |
G2607V |
probably damaging |
Het |
| Dhx29 |
G |
T |
13: 113,072,132 (GRCm39) |
|
probably null |
Het |
| Dmrtb1 |
T |
A |
4: 107,541,322 (GRCm39) |
H13L |
probably damaging |
Het |
| Echdc2 |
A |
G |
4: 108,031,006 (GRCm39) |
M162V |
probably benign |
Het |
| Entpd8 |
A |
G |
2: 24,974,986 (GRCm39) |
D439G |
possibly damaging |
Het |
| Fastkd2 |
C |
G |
1: 63,785,046 (GRCm39) |
H477Q |
probably null |
Het |
| Fbrs |
A |
G |
7: 127,084,529 (GRCm39) |
E517G |
probably damaging |
Het |
| Gchfr |
A |
G |
2: 119,002,502 (GRCm39) |
T71A |
possibly damaging |
Het |
| Hecw1 |
A |
T |
13: 14,552,492 (GRCm39) |
C35S |
probably damaging |
Het |
| Izumo1r |
C |
T |
9: 14,813,098 (GRCm39) |
R58H |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,906,332 (GRCm39) |
E537G |
possibly damaging |
Het |
| Kif13b |
G |
A |
14: 65,019,790 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lnpk |
A |
T |
2: 74,378,340 (GRCm39) |
D140E |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,559,362 (GRCm39) |
M284V |
probably benign |
Het |
| Me3 |
A |
T |
7: 89,495,050 (GRCm39) |
T323S |
possibly damaging |
Het |
| Mtus1 |
A |
G |
8: 41,535,895 (GRCm39) |
V607A |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,305,118 (GRCm39) |
|
probably null |
Het |
| Myo1h |
T |
A |
5: 114,485,496 (GRCm39) |
C545* |
probably null |
Het |
| Nbn |
T |
A |
4: 15,964,289 (GRCm39) |
D121E |
probably damaging |
Het |
| Nox4 |
A |
G |
7: 87,019,231 (GRCm39) |
Y408C |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Or10q1b |
A |
G |
19: 13,682,566 (GRCm39) |
D125G |
probably damaging |
Het |
| Or52d3 |
T |
A |
7: 104,229,268 (GRCm39) |
Y138* |
probably null |
Het |
| Or5w20 |
G |
A |
2: 87,727,286 (GRCm39) |
A248T |
probably benign |
Het |
| Osbpl5 |
T |
C |
7: 143,262,939 (GRCm39) |
T150A |
possibly damaging |
Het |
| Pgap3 |
C |
A |
11: 98,280,879 (GRCm39) |
M265I |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Pkd2l2 |
A |
T |
18: 34,560,446 (GRCm39) |
N351I |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,493,192 (GRCm39) |
Y700N |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,500,931 (GRCm39) |
|
probably null |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rptor |
A |
T |
11: 119,786,827 (GRCm39) |
Q1264L |
probably benign |
Het |
| Scnn1a |
T |
C |
6: 125,299,103 (GRCm39) |
F61S |
probably damaging |
Het |
| Tenm2 |
C |
A |
11: 35,997,610 (GRCm39) |
W825C |
probably damaging |
Het |
| Tex264 |
A |
T |
9: 106,559,116 (GRCm39) |
I70N |
possibly damaging |
Het |
| Tns2 |
G |
T |
15: 102,019,645 (GRCm39) |
D504Y |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,260,128 (GRCm39) |
I338V |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,733,447 (GRCm39) |
F132Y |
probably damaging |
Het |
| Trpm4 |
A |
G |
7: 44,958,021 (GRCm39) |
F816S |
probably damaging |
Het |
| Uqcc1 |
G |
A |
2: 155,763,641 (GRCm39) |
Q5* |
probably null |
Het |
| Usp36 |
G |
T |
11: 118,175,771 (GRCm39) |
T130N |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,604,252 (GRCm39) |
M165V |
probably benign |
Het |
| Vmn1r64 |
A |
T |
7: 5,886,803 (GRCm39) |
F247I |
probably damaging |
Het |
| Vmn2r26 |
G |
C |
6: 124,016,706 (GRCm39) |
R390P |
probably benign |
Het |
| Vmn2r57 |
G |
T |
7: 41,049,548 (GRCm39) |
H734N |
probably benign |
Het |
| Wfdc16 |
G |
T |
2: 164,477,843 (GRCm39) |
H69N |
possibly damaging |
Het |
| Zfp316 |
C |
T |
5: 143,239,317 (GRCm39) |
E901K |
probably damaging |
Het |
| Zfp334 |
T |
C |
2: 165,223,719 (GRCm39) |
E108G |
probably damaging |
Het |
| Zfp407 |
T |
C |
18: 84,227,763 (GRCm39) |
S1949G |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,476,473 (GRCm39) |
L227P |
probably benign |
Het |
| Zfp560 |
T |
C |
9: 20,259,287 (GRCm39) |
H525R |
possibly damaging |
Het |
| Zfp609 |
G |
A |
9: 65,611,754 (GRCm39) |
A403V |
possibly damaging |
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 |
|
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'- AGGTGTTACGACATTGCCTGCC -3'
(R):5'- AAAGACAACGTCCCTTCTTGCTCC -3'
Sequencing Primer
(F):5'- tgtgtgtgttgagacaggg -3'
(R):5'- ACCCTTAGGTCCTAAAGGGGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation