Mutagenetix > Incidental Mutation

Incidental Mutation 'R5906:Adamtsl4'

460610

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl4

Ensembl Gene

ENSMUSG00000015850

Gene Name

ADAMTS-like 4

Synonyms

Tsrc1

MMRRC Submission

044103-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5906 (G1)

Quality Score

225

Status

Validated

Chromosome

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: 99.9%
3x: 99.4%
10x: 97.4%
20x: 92.4%

Validation Efficiency

95% (81/85)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	C	A	11: 58,182,260 (GRCm39)		probably null	Het
9130023H24Rik	G	A	7: 127,835,664 (GRCm39)	P310S	probably benign	Het
Abcc10	G	T	17: 46,627,485 (GRCm39)	H652Q	probably benign	Het
Actl6b	A	G	5: 137,565,591 (GRCm39)	I396V	possibly damaging	Het
Acvr1b	T	C	15: 101,091,772 (GRCm39)		probably benign	Het
Adamts18	A	T	8: 114,436,251 (GRCm39)	H989Q	probably benign	Het
Angptl3	A	G	4: 98,925,804 (GRCm39)	T377A	probably benign	Het
Ankmy2	G	A	12: 36,226,632 (GRCm39)	V109M	probably damaging	Het
Anpep	G	A	7: 79,483,423 (GRCm39)	A689V	probably benign	Het
Brwd1	A	T	16: 95,859,938 (GRCm39)	M350K	probably damaging	Het
Cacna1d	C	T	14: 29,818,917 (GRCm39)	V1213I	probably damaging	Het
Capn1	A	G	19: 6,061,451 (GRCm39)	F156L	possibly damaging	Het
Catsperb	C	A	12: 101,476,721 (GRCm39)	F408L	probably damaging	Het
Ccdc146	A	T	5: 21,506,350 (GRCm39)	L697Q	possibly damaging	Het
Cdc37l1	T	A	19: 28,989,386 (GRCm39)	V281E	probably benign	Het
Chia1	A	T	3: 106,039,304 (GRCm39)	T465S	probably benign	Het
Cidec	A	T	6: 113,405,282 (GRCm39)		probably null	Het
Clcnkb	T	C	4: 141,139,610 (GRCm39)	T131A	probably benign	Het
Clec5a	T	A	6: 40,558,793 (GRCm39)	M98L	probably benign	Het
Cnga1	A	T	5: 72,768,201 (GRCm39)	F162I	probably benign	Het
Cyp27b1	A	T	10: 126,884,267 (GRCm39)	I40F	probably damaging	Het
Edrf1	A	G	7: 133,265,144 (GRCm39)	S1027G	probably benign	Het
Entpd1	C	A	19: 40,727,283 (GRCm39)	A448E	probably damaging	Het
Espl1	T	C	15: 102,205,286 (GRCm39)		probably null	Het
Etfdh	T	C	3: 79,511,422 (GRCm39)	I520V	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gabra4	G	A	5: 71,781,253 (GRCm39)	P386L	probably benign	Het
Gckr	G	T	5: 31,463,922 (GRCm39)	V281L	probably damaging	Het
Gfy	T	C	7: 44,827,167 (GRCm39)	T310A	probably benign	Het
Gjc2	C	A	11: 59,067,667 (GRCm39)	V272L	probably benign	Het
Gm13441	G	C	2: 31,777,511 (GRCm39)		silent	Het
H2-DMb2	T	A	17: 34,367,582 (GRCm39)	M1K	probably null	Het
Hipk3	T	C	2: 104,302,153 (GRCm39)	Y13C	probably damaging	Het
Kcnt1	A	T	2: 25,784,536 (GRCm39)		probably benign	Het
Kcnt1	T	C	2: 25,788,413 (GRCm39)	F336S	probably damaging	Het
Klhdc7b	A	G	15: 89,271,359 (GRCm39)	D747G	probably benign	Het
Krt78	T	A	15: 101,857,030 (GRCm39)	E359V	probably damaging	Het
Mast4	T	C	13: 102,872,252 (GRCm39)	D2195G	probably benign	Het
Matk	C	T	10: 81,096,753 (GRCm39)	L188F	probably damaging	Het
Mcoln2	T	C	3: 145,889,496 (GRCm39)	I399T	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nap1l1	A	T	10: 111,326,891 (GRCm39)	K151*	probably null	Het
Ncbp3	T	A	11: 72,964,327 (GRCm39)	S426T	probably benign	Het
Nisch	T	A	14: 30,893,985 (GRCm39)		probably null	Het
Or4k15b	T	C	14: 50,272,306 (GRCm39)	T185A	probably benign	Het
Or5b113	T	C	19: 13,342,369 (GRCm39)	C126R	probably damaging	Het
Or8a1b	A	G	9: 37,623,101 (GRCm39)	I158T	probably benign	Het
Or8b8	A	G	9: 37,809,174 (GRCm39)	H158R	probably damaging	Het
Peg3	T	C	7: 6,720,854 (GRCm39)	D17G	probably damaging	Het
Pkd1	G	A	17: 24,791,894 (GRCm39)	V1194M	probably benign	Het
Pkd1l2	A	T	8: 117,756,387 (GRCm39)	I1615N	probably damaging	Het
Pkd2	A	T	5: 104,625,045 (GRCm39)		probably null	Het
Pkp4	T	A	2: 59,135,420 (GRCm39)	N97K	possibly damaging	Het
Prrx2	C	T	2: 30,769,522 (GRCm39)	R78C	probably damaging	Het
Pycr1	T	A	11: 120,532,988 (GRCm39)	I91F	probably damaging	Het
Rap1a	T	C	3: 105,645,081 (GRCm39)	N87S	possibly damaging	Het
Sbk2	T	G	7: 4,960,627 (GRCm39)	Y181S	probably damaging	Het
Scart1	T	A	7: 139,808,712 (GRCm39)	D874E	probably damaging	Het
Sec16a	A	T	2: 26,328,843 (GRCm39)	H1057Q	possibly damaging	Het
Sfswap	G	A	5: 129,619,107 (GRCm39)	E486K	probably benign	Het
Shank3	T	C	15: 89,433,119 (GRCm39)	V1213A	probably damaging	Het
Slfn5	T	A	11: 82,848,102 (GRCm39)	I329K	probably benign	Het
Slit1	T	A	19: 41,594,813 (GRCm39)	N1186Y	probably damaging	Het
Ssbp3	A	G	4: 106,867,018 (GRCm39)		probably benign	Het
Steap3	T	A	1: 120,171,731 (GRCm39)	I125F	probably damaging	Het
Synpr	C	A	14: 13,608,788 (GRCm38)		probably benign	Het
Tom1	T	C	8: 75,776,886 (GRCm39)	L69P	probably damaging	Het
Traf3ip3	T	A	1: 192,880,314 (GRCm39)	D5V	possibly damaging	Het
Vmn1r29	G	A	6: 58,284,736 (GRCm39)	S152N	probably benign	Het
Vmn1r68	T	C	7: 10,261,550 (GRCm39)	I183V	probably benign	Het
Wdr17	C	G	8: 55,092,503 (GRCm39)	V1094L	probably benign	Het
Wdr95	A	G	5: 149,487,692 (GRCm39)	I109V	possibly damaging	Het
Zfp39	T	C	11: 58,793,717 (GRCm39)	D7G	probably benign	Het
Zfp512	A	T	5: 31,637,408 (GRCm39)	Q443L	probably damaging	Het
Zfp974	T	A	7: 27,610,230 (GRCm39)	K498N	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
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
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'- CTCAGAGCCCCGTTTCAATG -3'
(R):5'- CTGGTAAAACTAGGATCCCCAG -3'

Sequencing Primer
(F):5'- GAGCCCCGTTTCAATGAAATC -3'
(R):5'- GTAGCAGGGAGGCATCTAATCTG -3'

Posted On

2017-02-28