Mutagenetix > Incidental Mutation

Incidental Mutation 'R8062:Adamts14'

619801

Institutional Source

Beutler Lab

Gene Symbol

Adamts14

Ensembl Gene

ENSMUSG00000059901

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 14

Synonyms

TS14, Adamts-14

MMRRC Submission

067498-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8062 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61032891-61109217 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 61036140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092486] [ENSMUST00000120336]

AlphaFold

E9PX39

Predicted Effect

probably null
Transcript: ENSMUST00000092486

SMART Domains

Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Pep_M12B_propep	38	194	6.3e-30	PFAM
Pfam:Reprolysin_5	245	424	6e-17	PFAM
Pfam:Reprolysin_4	246	432	2.5e-7	PFAM
Pfam:Reprolysin	246	447	1.9e-21	PFAM
Pfam:Reprolysin_2	264	437	9.2e-10	PFAM
Pfam:Reprolysin_3	268	396	2.5e-12	PFAM
TSP1	542	594	5.9e-16	SMART
Pfam:ADAM_spacer1	701	816	1.8e-24	PFAM
TSP1	837	894	2.1e-2	SMART
TSP1	897	956	3.42e-3	SMART
TSP1	959	1009	4.48e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120336

SMART Domains

Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	194	1.6e-38	PFAM
Pfam:Reprolysin_5	245	427	5.9e-16	PFAM
Pfam:Reprolysin_4	246	435	1.1e-7	PFAM
Pfam:Reprolysin	246	450	3.2e-20	PFAM
Pfam:Reprolysin_2	264	441	5.5e-12	PFAM
Pfam:Reprolysin_3	268	399	1.5e-13	PFAM
TSP1	545	597	5.9e-16	SMART
Pfam:ADAM_spacer1	704	819	8e-25	PFAM
TSP1	840	897	2.1e-2	SMART
TSP1	900	959	3.42e-3	SMART
TSP1	962	1012	4.48e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	A	T	8: 80,427,773 (GRCm39)	Y172N	possibly damaging	Het
Abhd2	T	A	7: 78,975,338 (GRCm39)	M176K	possibly damaging	Het
Atg2a	T	C	19: 6,302,609 (GRCm39)		probably null	Het
Bach2	G	A	4: 32,562,937 (GRCm39)	G468E	probably damaging	Het
Bap1	T	A	14: 30,979,465 (GRCm39)	N489K	probably benign	Het
Btaf1	G	A	19: 36,969,865 (GRCm39)	V1180I	probably benign	Het
Calm5	A	G	13: 3,904,405 (GRCm39)	H33R	probably benign	Het
Cby2	A	T	14: 75,830,046 (GRCm39)	I49N	probably benign	Het
Cnr1	T	A	4: 33,944,707 (GRCm39)	V365E	possibly damaging	Het
Crym	A	C	7: 119,800,391 (GRCm39)	V77G	probably damaging	Het
Cyp2j7	T	A	4: 96,103,587 (GRCm39)	E316V	probably null	Het
Dab2	G	A	15: 6,456,822 (GRCm39)	G233D	probably damaging	Het
Ddx19b	A	T	8: 111,747,611 (GRCm39)	S108T	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Duxf1	G	A	10: 58,059,632 (GRCm39)	A374V	unknown	Het
Duxf3	A	C	10: 58,066,750 (GRCm39)	M93R	probably benign	Het
Duxf3	G	A	10: 58,066,889 (GRCm39)	L537F	probably damaging	Het
Eif2s2	A	G	2: 154,719,724 (GRCm39)	F182L	possibly damaging	Het
Erlin1	T	A	19: 44,044,598 (GRCm39)	K156I	probably benign	Het
Gapvd1	A	G	2: 34,568,126 (GRCm39)	S1413P	probably benign	Het
Gm1110	G	A	9: 26,793,117 (GRCm39)	A553V	probably damaging	Het
Gm3250	C	A	10: 77,618,234 (GRCm39)	C48F	unknown	Het
Gm3604	T	C	13: 62,518,155 (GRCm39)	S68G	probably damaging	Het
Golga5	T	A	12: 102,450,739 (GRCm39)	M464K	probably benign	Het
Gpr142	G	A	11: 114,697,357 (GRCm39)	R301Q	probably benign	Het
Gria4	C	T	9: 4,480,273 (GRCm39)	D392N	possibly damaging	Het
Grik2	T	A	10: 49,116,863 (GRCm39)	T633S	probably damaging	Het
Gsap	T	A	5: 21,399,461 (GRCm39)	I54N	probably damaging	Het
Hdlbp	A	G	1: 93,366,064 (GRCm39)	Y40H	probably benign	Het
Hyal5	C	A	6: 24,876,196 (GRCm39)	T23K	possibly damaging	Het
Iqank1	G	A	15: 75,918,603 (GRCm39)	R508H	probably benign	Het
Itga6	T	A	2: 71,672,087 (GRCm39)	F834L	probably benign	Het
Klf1	T	A	8: 85,629,928 (GRCm39)	L251Q	probably benign	Het
Kndc1	A	G	7: 139,498,760 (GRCm39)	D558G	probably benign	Het
Ktn1	T	A	14: 47,962,429 (GRCm39)		probably null	Het
Lcmt2	A	G	2: 120,970,753 (GRCm39)	V110A	possibly damaging	Het
Lgr4	C	T	2: 109,831,282 (GRCm39)	R304C	probably damaging	Het
Lnpk	T	A	2: 74,381,407 (GRCm39)	I119L	possibly damaging	Het
Med13	A	G	11: 86,210,264 (GRCm39)	V626A	probably benign	Het
Mroh9	A	T	1: 162,866,544 (GRCm39)	L700M	probably damaging	Het
Muc4	T	A	16: 32,577,123 (GRCm39)	W138R		Het
Myh2	G	T	11: 67,084,209 (GRCm39)	E1611*	probably null	Het
Myo9b	T	G	8: 71,774,457 (GRCm39)	S323A	probably damaging	Het
Or2n1c	A	T	17: 38,520,065 (GRCm39)	I310F	probably benign	Het
Or4c52	T	A	2: 89,846,080 (GRCm39)	F269I	possibly damaging	Het
Or5t7	A	C	2: 86,507,410 (GRCm39)	V89G	probably benign	Het
Or8b101	G	T	9: 38,020,213 (GRCm39)	C72F	probably damaging	Het
P2ry13	A	T	3: 59,117,703 (GRCm39)	M25K	probably benign	Het
Pan3	T	A	5: 147,463,960 (GRCm39)	F571Y	probably benign	Het
Pdcd11	A	G	19: 47,119,152 (GRCm39)	D1831G	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pex1	T	G	5: 3,655,656 (GRCm39)	M161R	probably benign	Het
Piezo2	T	A	18: 63,163,537 (GRCm39)	D2127V	possibly damaging	Het
Plod3	A	T	5: 137,019,123 (GRCm39)	H336L	possibly damaging	Het
Pp2d1	A	T	17: 53,822,798 (GRCm39)	N89K	probably benign	Het
Ppp4r3a	A	G	12: 101,008,230 (GRCm39)	S736P	probably damaging	Het
Prp2	C	A	6: 132,577,651 (GRCm39)	Q313K	unknown	Het
Psma5	T	G	3: 108,173,795 (GRCm39)	D90E	probably benign	Het
Reln	G	A	5: 22,176,990 (GRCm39)	T1892I	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rsf1	T	G	7: 97,326,594 (GRCm39)	D1039E		Het
Rtel1	A	G	2: 180,982,360 (GRCm39)	D370G	probably benign	Het
Scyl2	T	A	10: 89,490,022 (GRCm39)	N447Y	probably damaging	Het
Sis	A	T	3: 72,828,321 (GRCm39)	Y1222*	probably null	Het
Slc37a3	A	T	6: 39,341,530 (GRCm39)	H35Q	probably damaging	Het
Sltm	A	T	9: 70,480,779 (GRCm39)	K210N	unknown	Het
Spata3	T	C	1: 85,952,148 (GRCm39)	I134T	unknown	Het
Speer4d	A	T	5: 15,825,437 (GRCm39)	N54I	possibly damaging	Het
Syne1	A	G	10: 5,135,394 (GRCm39)		probably null	Het
Tars1	A	T	15: 11,388,400 (GRCm39)	F465Y	possibly damaging	Het
Tlr4	T	G	4: 66,758,087 (GRCm39)	N293K	probably benign	Het
Tmprss13	C	A	9: 45,239,986 (GRCm39)	T98K	unknown	Het
Tnfsf8	G	A	4: 63,779,432 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,015,393 (GRCm39)		probably benign	Het
Trpm1	A	G	7: 63,851,689 (GRCm39)	K136E	probably benign	Het
Ttc6	A	G	12: 57,783,764 (GRCm39)	Y1741C	possibly damaging	Het
Usp38	T	C	8: 81,711,218 (GRCm39)	D939G	probably damaging	Het
Vmn1r196	T	A	13: 22,477,440 (GRCm39)	N26K	probably damaging	Het
Vmn2r50	C	A	7: 9,774,240 (GRCm39)		probably null	Het
Wdr3	T	A	3: 100,049,810 (GRCm39)	M773L	probably benign	Het
Zfp993	T	G	4: 146,739,415 (GRCm39)		probably null	Het

Other mutations in Adamts14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Adamts14	APN	10	61,065,455 (GRCm39)	missense	probably damaging	1.00
IGL00800:Adamts14	APN	10	61,041,197 (GRCm39)	missense	probably benign	0.00
IGL01021:Adamts14	APN	10	61,061,152 (GRCm39)	missense	probably damaging	0.99
IGL01022:Adamts14	APN	10	61,038,721 (GRCm39)	missense	probably benign	0.01
IGL01335:Adamts14	APN	10	61,034,460 (GRCm39)	missense	possibly damaging	0.90
IGL01419:Adamts14	APN	10	61,041,321 (GRCm39)	splice site	probably benign
IGL01595:Adamts14	APN	10	61,041,252 (GRCm39)	missense	probably damaging	1.00
R0594:Adamts14	UTSW	10	61,038,666 (GRCm39)	missense	probably damaging	1.00
R0629:Adamts14	UTSW	10	61,047,403 (GRCm39)	nonsense	probably null
R1459:Adamts14	UTSW	10	61,034,583 (GRCm39)	missense	probably benign	0.13
R1565:Adamts14	UTSW	10	61,106,676 (GRCm39)	missense	probably damaging	1.00
R1686:Adamts14	UTSW	10	61,034,439 (GRCm39)	missense	probably benign
R1792:Adamts14	UTSW	10	61,054,277 (GRCm39)	missense	probably benign	0.07
R1876:Adamts14	UTSW	10	61,036,151 (GRCm39)	missense	probably benign	0.03
R1992:Adamts14	UTSW	10	61,034,439 (GRCm39)	missense	probably benign
R2064:Adamts14	UTSW	10	61,041,301 (GRCm39)	missense	probably benign	0.24
R2495:Adamts14	UTSW	10	61,034,749 (GRCm39)	splice site	probably null
R2848:Adamts14	UTSW	10	61,054,214 (GRCm39)	missense	probably damaging	1.00
R2897:Adamts14	UTSW	10	61,040,689 (GRCm39)	missense	probably damaging	0.99
R3428:Adamts14	UTSW	10	61,060,153 (GRCm39)	missense	probably benign	0.36
R4006:Adamts14	UTSW	10	61,038,600 (GRCm39)	critical splice donor site	probably null
R5129:Adamts14	UTSW	10	61,085,397 (GRCm39)	missense	probably benign	0.02
R5327:Adamts14	UTSW	10	61,034,267 (GRCm39)	missense	probably benign	0.01
R5524:Adamts14	UTSW	10	61,066,222 (GRCm39)	missense	probably damaging	1.00
R5594:Adamts14	UTSW	10	61,062,880 (GRCm39)	splice site	probably null
R5694:Adamts14	UTSW	10	61,065,431 (GRCm39)	missense	probably benign	0.45
R5801:Adamts14	UTSW	10	61,038,775 (GRCm39)	missense	probably damaging	0.99
R5941:Adamts14	UTSW	10	61,057,674 (GRCm39)	missense	probably damaging	1.00
R5953:Adamts14	UTSW	10	61,043,225 (GRCm39)	missense	probably damaging	0.99
R6778:Adamts14	UTSW	10	61,061,231 (GRCm39)	missense	probably damaging	1.00
R7169:Adamts14	UTSW	10	61,040,707 (GRCm39)	missense	probably damaging	0.97
R7215:Adamts14	UTSW	10	61,047,375 (GRCm39)	missense	possibly damaging	0.89
R7337:Adamts14	UTSW	10	61,043,239 (GRCm39)	missense	probably damaging	0.98
R7511:Adamts14	UTSW	10	61,054,307 (GRCm39)	missense	possibly damaging	0.74
R7640:Adamts14	UTSW	10	61,081,836 (GRCm39)	missense	probably benign	0.00
R7798:Adamts14	UTSW	10	61,106,952 (GRCm39)	missense	probably damaging	0.99
R7902:Adamts14	UTSW	10	61,041,176 (GRCm39)	missense	possibly damaging	0.92
R8284:Adamts14	UTSW	10	61,034,438 (GRCm39)	missense	possibly damaging	0.55
R8319:Adamts14	UTSW	10	61,057,706 (GRCm39)	missense	probably benign
R8475:Adamts14	UTSW	10	61,038,666 (GRCm39)	missense	probably damaging	1.00
R8494:Adamts14	UTSW	10	61,038,708 (GRCm39)	missense	probably benign	0.03
R8519:Adamts14	UTSW	10	61,038,619 (GRCm39)	missense	possibly damaging	0.84
R8547:Adamts14	UTSW	10	61,106,998 (GRCm39)	missense	probably damaging	1.00
R8797:Adamts14	UTSW	10	61,106,781 (GRCm39)	missense	probably benign	0.44
R8978:Adamts14	UTSW	10	61,038,795 (GRCm39)	missense	probably damaging	0.96
R9023:Adamts14	UTSW	10	61,038,780 (GRCm39)	missense	probably damaging	1.00
R9067:Adamts14	UTSW	10	61,085,439 (GRCm39)	missense	possibly damaging	0.78
R9326:Adamts14	UTSW	10	61,036,238 (GRCm39)	missense	probably benign	0.00
R9641:Adamts14	UTSW	10	61,106,829 (GRCm39)	missense	probably damaging	1.00
R9785:Adamts14	UTSW	10	61,049,427 (GRCm39)	missense	possibly damaging	0.83
Z1088:Adamts14	UTSW	10	61,054,224 (GRCm39)	missense	probably damaging	1.00
Z1177:Adamts14	UTSW	10	61,034,622 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- GTATCAGGTTTGGCCGTCAC -3'
(R):5'- AAGACAGTGGAAGTGCTTCTG -3'

Sequencing Primer
(F):5'- GTCACGGGAATAACACCAAACGTAG -3'
(R):5'- AAGTGCTTCTGGCCCCAAG -3'

Posted On

2020-01-23