Incidental Mutation 'R5044:Adamtsl4'
ID |
394239 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamtsl4
|
Ensembl Gene |
ENSMUSG00000015850 |
Gene Name |
ADAMTS-like 4 |
Synonyms |
Tsrc1 |
MMRRC Submission |
042634-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5044 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
95583511-95595228 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 95588960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113424
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015994]
[ENSMUST00000117782]
[ENSMUST00000148854]
|
AlphaFold |
Q80T21 |
Predicted Effect |
probably null
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 null
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 |
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 |
0.9484 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
96% (73/76) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,323,323 (GRCm39) |
F3387I |
possibly damaging |
Het |
Acacb |
T |
A |
5: 114,304,088 (GRCm39) |
S170R |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,637,050 (GRCm39) |
C3464R |
probably benign |
Het |
Apbb1 |
A |
T |
7: 105,214,889 (GRCm39) |
|
probably benign |
Het |
Cad |
A |
G |
5: 31,212,365 (GRCm39) |
T23A |
probably benign |
Het |
Cdca7 |
A |
G |
2: 72,313,759 (GRCm39) |
R183G |
probably benign |
Het |
Cdpf1 |
T |
C |
15: 85,693,513 (GRCm39) |
T5A |
probably benign |
Het |
Cep85 |
T |
C |
4: 133,883,490 (GRCm39) |
D133G |
probably damaging |
Het |
Chrna9 |
T |
C |
5: 66,128,359 (GRCm39) |
L189P |
probably damaging |
Het |
Clca3a1 |
A |
C |
3: 144,713,689 (GRCm39) |
|
probably null |
Het |
Cntn1 |
G |
T |
15: 92,140,876 (GRCm39) |
V201F |
probably damaging |
Het |
Col4a3 |
A |
G |
1: 82,644,267 (GRCm39) |
E352G |
unknown |
Het |
Ddhd2 |
T |
C |
8: 26,242,164 (GRCm39) |
Y237C |
probably damaging |
Het |
Dnah6 |
A |
C |
6: 73,014,605 (GRCm39) |
F3609V |
probably benign |
Het |
Epha3 |
T |
C |
16: 63,422,650 (GRCm39) |
K580R |
possibly damaging |
Het |
Fam135b |
T |
C |
15: 71,334,560 (GRCm39) |
N878S |
probably benign |
Het |
Fbn1 |
T |
G |
2: 125,171,022 (GRCm39) |
T1938P |
probably damaging |
Het |
Foxg1 |
T |
C |
12: 49,431,969 (GRCm39) |
V234A |
probably damaging |
Het |
Garin5b |
T |
C |
7: 4,761,660 (GRCm39) |
N351D |
probably benign |
Het |
Glt1d1 |
A |
T |
5: 127,721,478 (GRCm39) |
N55I |
probably benign |
Het |
Gm17641 |
C |
A |
3: 68,776,807 (GRCm39) |
|
probably benign |
Het |
Gm7665 |
A |
G |
18: 16,407,788 (GRCm39) |
|
noncoding transcript |
Het |
Hgf |
A |
C |
5: 16,819,892 (GRCm39) |
N541T |
probably benign |
Het |
Hipk2 |
G |
A |
6: 38,795,814 (GRCm39) |
P152S |
probably benign |
Het |
Jarid2 |
C |
T |
13: 45,060,041 (GRCm39) |
L720F |
probably damaging |
Het |
Kifc5b |
A |
G |
17: 27,143,761 (GRCm39) |
E511G |
probably damaging |
Het |
Ldlr |
G |
A |
9: 21,646,538 (GRCm39) |
A235T |
probably benign |
Het |
Lmln |
A |
G |
16: 32,894,550 (GRCm39) |
D231G |
possibly damaging |
Het |
Lrp1 |
A |
G |
10: 127,403,364 (GRCm39) |
C2070R |
probably damaging |
Het |
Mbl1 |
A |
G |
14: 40,880,681 (GRCm39) |
T190A |
possibly damaging |
Het |
Mpdz |
A |
T |
4: 81,299,934 (GRCm39) |
S355T |
probably benign |
Het |
Muc19 |
C |
T |
15: 91,772,332 (GRCm39) |
|
noncoding transcript |
Het |
Mycbp2 |
A |
C |
14: 103,376,671 (GRCm39) |
|
probably null |
Het |
Naa20 |
T |
C |
2: 145,757,762 (GRCm39) |
S164P |
probably damaging |
Het |
Nme4 |
A |
T |
17: 26,312,807 (GRCm39) |
|
probably benign |
Het |
Npas2 |
A |
T |
1: 39,386,587 (GRCm39) |
R619* |
probably null |
Het |
Nudt19 |
G |
A |
7: 35,255,171 (GRCm39) |
T20I |
possibly damaging |
Het |
Or4c119 |
T |
A |
2: 88,987,283 (GRCm39) |
K79* |
probably null |
Het |
Or5b97 |
A |
G |
19: 12,878,365 (GRCm39) |
Y260H |
probably damaging |
Het |
Pitpnc1 |
A |
G |
11: 107,187,054 (GRCm39) |
Y90H |
possibly damaging |
Het |
Rcor2 |
A |
G |
19: 7,247,150 (GRCm39) |
T6A |
probably benign |
Het |
Rif1 |
T |
A |
2: 51,999,940 (GRCm39) |
S1131R |
probably damaging |
Het |
Rtkn |
T |
A |
6: 83,127,972 (GRCm39) |
D377E |
probably benign |
Het |
Rtn4rl2 |
T |
A |
2: 84,702,846 (GRCm39) |
N242I |
probably damaging |
Het |
Sbno2 |
G |
A |
10: 79,898,022 (GRCm39) |
L719F |
probably benign |
Het |
Scn11a |
G |
T |
9: 119,648,897 (GRCm39) |
D55E |
probably damaging |
Het |
Setd1b |
T |
A |
5: 123,289,929 (GRCm39) |
I632N |
unknown |
Het |
Spaca6 |
A |
G |
17: 18,051,458 (GRCm39) |
T45A |
probably benign |
Het |
Srpk2 |
A |
T |
5: 23,729,390 (GRCm39) |
D416E |
possibly damaging |
Het |
Sspo |
A |
T |
6: 48,443,889 (GRCm39) |
|
probably null |
Het |
Sycp1 |
A |
T |
3: 102,752,370 (GRCm39) |
I804N |
probably benign |
Het |
Tdp2 |
G |
A |
13: 25,015,809 (GRCm39) |
R32Q |
probably benign |
Het |
Tgfbr3 |
A |
G |
5: 107,284,795 (GRCm39) |
V618A |
possibly damaging |
Het |
Tmc3 |
C |
T |
7: 83,258,326 (GRCm39) |
P439S |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,936,457 (GRCm39) |
D2740V |
probably damaging |
Het |
Tspyl4 |
A |
G |
10: 34,173,933 (GRCm39) |
T142A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,710,785 (GRCm39) |
|
probably benign |
Het |
Tubgcp4 |
T |
C |
2: 121,004,061 (GRCm39) |
L34P |
probably damaging |
Het |
Tubgcp6 |
G |
T |
15: 88,983,748 (GRCm39) |
|
probably benign |
Het |
Unc79 |
T |
A |
12: 103,078,962 (GRCm39) |
V1690E |
probably benign |
Het |
Vps4b |
T |
C |
1: 106,724,148 (GRCm39) |
|
probably null |
Het |
Wtap |
A |
G |
17: 13,186,525 (GRCm39) |
S341P |
possibly damaging |
Het |
Wwc1 |
T |
C |
11: 35,774,172 (GRCm39) |
T363A |
probably benign |
Het |
Zbtb8a |
G |
A |
4: 129,254,293 (GRCm39) |
T67M |
probably damaging |
Het |
Zfp865 |
T |
C |
7: 5,037,668 (GRCm39) |
|
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 |
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 |
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'- TGAAGCCTTTGTGCCCAGAG -3'
(R):5'- CTCTGACTTGAAGCACAAAGAG -3'
Sequencing Primer
(F):5'- TTTGTGCCCAGAGACCTCGAC -3'
(R):5'- TCCTTGGCTCTGGCAGG -3'
|
Posted On |
2016-06-15 |