Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00800:Adamts14'

8576

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts14

Ensembl Gene

ENSMUSG00000059901

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 14

Synonyms

TS14, Adamts-14

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00800

Quality Score

Status

Chromosome

Chromosomal Location

61032891-61109217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61041197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 838 (T838S)

Ref Sequence

ENSEMBL: ENSMUSP00000112723 (fasta)

Gene Model

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

AlphaFold

E9PX39

Predicted Effect

probably benign
Transcript: ENSMUST00000092486
AA Change: T835S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901
AA Change: T835S

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
AA Change: T838S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901
AA Change: T838S

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

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,854,613 (GRCm39)	I926L	probably benign	Het
Adam6b	T	C	12: 113,454,062 (GRCm39)	V293A	probably benign	Het
Cdk13	A	G	13: 17,902,727 (GRCm39)	V941A	probably damaging	Het
Cep128	T	C	12: 91,222,438 (GRCm39)	K762E	possibly damaging	Het
Dysf	A	G	6: 84,126,980 (GRCm39)	N1366S	probably damaging	Het
Gfra4	A	G	2: 130,882,203 (GRCm39)	S268P	possibly damaging	Het
Il7r	T	G	15: 9,525,195 (GRCm39)	T56P	probably damaging	Het
Ipo13	C	T	4: 117,769,505 (GRCm39)	D96N	probably benign	Het
Kl	G	A	5: 150,904,233 (GRCm39)	W328*	probably null	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Ranbp2	T	A	10: 58,326,526 (GRCm39)	D2732E	probably benign	Het
Rpf2	G	A	10: 40,115,755 (GRCm39)	Q75*	probably null	Het
Scd2	T	C	19: 44,286,569 (GRCm39)	L133P	probably damaging	Het
Slc6a6	T	A	6: 91,718,151 (GRCm39)		probably benign	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
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
R8062:Adamts14	UTSW	10	61,036,140 (GRCm39)	critical splice donor site	probably null
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

Posted On

2012-12-06