Incidental Mutation 'R4929:Adamtsl4'
| ID |
430278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl4
|
| Ensembl Gene |
ENSMUSG00000015850 |
| Gene Name |
ADAMTS-like 4 |
| Synonyms |
Tsrc1 |
| MMRRC Submission |
042530-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4929 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95583511-95595228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95585315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 818
(C818R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015994]
[ENSMUST00000117782]
|
| AlphaFold |
Q80T21 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015994
AA Change: C818R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000015994
Gene: ENSMUSG00000015850
AA Change: C818R
| 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: C818R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113424
Gene: ENSMUSG00000015850
AA Change: C818R
| 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 |
noncoding transcript
Transcript: ENSMUST00000151054
|
| Meta Mutation Damage Score |
0.8993 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
100% (66/66) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
G |
7: 29,273,467 (GRCm39) |
|
noncoding transcript |
Het |
| Abcd3 |
A |
T |
3: 121,562,395 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
C |
T |
15: 11,259,108 (GRCm39) |
R551C |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,506,599 (GRCm39) |
Q842L |
probably benign |
Het |
| Aurka |
A |
T |
2: 172,212,326 (GRCm39) |
V17E |
probably benign |
Het |
| Cdh24 |
C |
T |
14: 54,870,973 (GRCm39) |
V132I |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,621,910 (GRCm39) |
D2G |
possibly damaging |
Het |
| Cntn5 |
T |
A |
9: 9,976,400 (GRCm39) |
|
probably null |
Het |
| Col10a1 |
T |
C |
10: 34,271,120 (GRCm39) |
I364T |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,254,785 (GRCm39) |
A67T |
probably benign |
Het |
| Dym |
T |
A |
18: 75,376,357 (GRCm39) |
V583E |
probably damaging |
Het |
| Efcab5 |
T |
G |
11: 76,994,209 (GRCm39) |
K1259N |
probably benign |
Het |
| Ehbp1 |
T |
G |
11: 22,189,169 (GRCm39) |
I78L |
possibly damaging |
Het |
| Epha1 |
C |
A |
6: 42,341,533 (GRCm39) |
A469S |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,069,081 (GRCm39) |
D596G |
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,727,029 (GRCm39) |
N530S |
probably benign |
Het |
| Gm57858 |
G |
A |
3: 36,089,487 (GRCm39) |
L146F |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,361,046 (GRCm39) |
N610S |
probably benign |
Het |
| Haus6 |
T |
C |
4: 86,513,670 (GRCm39) |
I331V |
probably benign |
Het |
| Ints2 |
G |
T |
11: 86,103,479 (GRCm39) |
N1192K |
possibly damaging |
Het |
| Itga5 |
A |
G |
15: 103,261,662 (GRCm39) |
V445A |
probably benign |
Het |
| Itga9 |
C |
A |
9: 118,636,317 (GRCm39) |
D82E |
probably damaging |
Het |
| Jam2 |
G |
A |
16: 84,619,750 (GRCm39) |
|
probably benign |
Het |
| Klhl32 |
T |
A |
4: 24,709,030 (GRCm39) |
I112F |
probably damaging |
Het |
| Lepr |
A |
G |
4: 101,672,314 (GRCm39) |
I1113V |
probably benign |
Het |
| Lrrc3b |
C |
A |
14: 15,357,888 (GRCm38) |
L239F |
probably damaging |
Het |
| Lzic |
T |
A |
4: 149,572,585 (GRCm39) |
|
probably null |
Het |
| Mxra8 |
T |
A |
4: 155,927,118 (GRCm39) |
F351I |
probably damaging |
Het |
| Naa40 |
A |
G |
19: 7,207,347 (GRCm39) |
F126L |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,277,813 (GRCm39) |
S733F |
probably damaging |
Het |
| Olr1 |
T |
C |
6: 129,477,044 (GRCm39) |
T74A |
probably damaging |
Het |
| Or52x1 |
A |
G |
7: 104,853,232 (GRCm39) |
I106T |
probably damaging |
Het |
| Or5aq7 |
A |
G |
2: 86,938,527 (GRCm39) |
F68S |
possibly damaging |
Het |
| Or5h17 |
A |
C |
16: 58,820,582 (GRCm39) |
Y178S |
probably damaging |
Het |
| Pgam5 |
A |
T |
5: 110,413,691 (GRCm39) |
V130D |
probably damaging |
Het |
| Pop4 |
A |
G |
7: 37,965,573 (GRCm39) |
C115R |
probably damaging |
Het |
| Prpf18 |
A |
T |
2: 4,629,348 (GRCm39) |
|
probably null |
Het |
| Psg16 |
G |
A |
7: 16,829,031 (GRCm39) |
R205H |
possibly damaging |
Het |
| Ptgr1 |
C |
A |
4: 58,981,879 (GRCm39) |
A53S |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,920,345 (GRCm39) |
|
noncoding transcript |
Het |
| Sox8 |
G |
A |
17: 25,789,330 (GRCm39) |
A56V |
probably benign |
Het |
| Ssr3 |
A |
G |
3: 65,295,175 (GRCm39) |
S113P |
probably damaging |
Het |
| Stx16 |
T |
C |
2: 173,938,721 (GRCm39) |
Y296H |
possibly damaging |
Het |
| Tfcp2 |
A |
T |
15: 100,426,370 (GRCm39) |
N60K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,751,654 (GRCm39) |
T441A |
probably benign |
Het |
| Trf |
G |
T |
9: 103,105,074 (GRCm39) |
|
probably benign |
Het |
| Vamp2 |
T |
A |
11: 68,979,488 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,448,280 (GRCm39) |
D181E |
probably benign |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,544 (GRCm39) |
Y340N |
probably damaging |
Het |
| Wasf2 |
C |
A |
4: 132,923,170 (GRCm39) |
D493E |
unknown |
Het |
| Wdfy4 |
T |
C |
14: 32,769,213 (GRCm39) |
D2084G |
possibly damaging |
Het |
| Zfp229 |
T |
A |
17: 21,965,354 (GRCm39) |
I528N |
probably damaging |
Het |
| Zfp703 |
T |
A |
8: 27,468,879 (GRCm39) |
V181E |
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 |
|
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 |
|
|
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'- AAGTTTAAAATGTGGGGCTTCG -3'
(R):5'- GTGTCACATAAACCAGGTGTATGAC -3'
Sequencing Primer
(F):5'- TGTGAACCAGCGCCATGTC -3'
(R):5'- TGTATGACACACACTCTTAACCC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation