Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Adamts14'

57768

Institutional Source

Beutler Lab

Gene Symbol

Adamts14

Ensembl Gene

ENSMUSG00000059901

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 14

Synonyms

Adamts-14, TS14

MMRRC Submission

038818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0629 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

61197112-61273438 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 61211624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 733 (Q733*)

Ref Sequence

ENSEMBL: ENSMUSP00000112723 (fasta)

Gene Model

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

AlphaFold

E9PX39

Predicted Effect

probably null
Transcript: ENSMUST00000092486
AA Change: Q730*

SMART Domains

Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901
AA Change: Q730*

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 null
Transcript: ENSMUST00000120336
AA Change: Q733*

SMART Domains

Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901
AA Change: Q733*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,507,547	D86V	probably damaging	Het
Adcy10	A	G	1: 165,543,105	D651G	probably damaging	Het
Apcdd1	T	A	18: 62,933,970	C52S	probably damaging	Het
Bclaf1	T	C	10: 20,333,426	S463P	probably damaging	Het
Cabcoco1	T	C	10: 68,516,278	Y68C	probably damaging	Het
Cacna1f	G	A	X: 7,620,434	S888N	probably damaging	Het
Cacna1g	A	G	11: 94,409,543	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,140,768	M325R	possibly damaging	Het
Clca2	T	A	3: 145,072,239	M762L	probably benign	Het
Cntn3	C	T	6: 102,203,976	V753M	probably damaging	Het
Col6a6	A	T	9: 105,727,165		probably benign	Het
Dscaml1	A	G	9: 45,721,418	D1194G	probably damaging	Het
Egfr	G	A	11: 16,869,333	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,471,414	N19K	probably damaging	Het
Fmo3	A	G	1: 162,958,227		probably benign	Het
Frmd6	T	C	12: 70,883,762	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,925,644	V193A	possibly damaging	Het
Gm1141	G	C	X: 71,938,773	R296P	possibly damaging	Het
Gm7461	C	T	8: 4,677,769		noncoding transcript	Het
Gpc5	T	A	14: 115,552,239	N508K	possibly damaging	Het
Iqch	A	T	9: 63,425,382	D1019E	probably benign	Het
Isyna1	A	G	8: 70,594,708	Y27C	probably damaging	Het
Itgb8	T	G	12: 119,202,481	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,027,572	P57L	probably benign	Het
Kcns3	A	C	12: 11,092,558	C47G	probably damaging	Het
Kif21b	A	T	1: 136,172,157		probably null	Het
Lama3	A	T	18: 12,419,245	H418L	possibly damaging	Het
Lrit3	A	G	3: 129,788,302	Y679H	probably damaging	Het
Lrrc19	T	A	4: 94,638,252	D356V	probably damaging	Het
Morc2b	A	G	17: 33,135,807	M997T	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,338,142	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,793,421	T529A	possibly damaging	Het
Myo7a	A	C	7: 98,085,466	L607R	probably damaging	Het
Myom2	T	A	8: 15,069,783	F180I	probably damaging	Het
Myt1l	G	A	12: 29,811,485	E89K	unknown	Het
Nek2	A	G	1: 191,831,317	N431S	probably benign	Het
Olfr1086	T	A	2: 86,676,529	H268L	possibly damaging	Het
Olfr169	A	T	16: 19,565,980	V301E	possibly damaging	Het
Oprm1	A	T	10: 6,832,604		probably null	Het
Oxsr1	A	G	9: 119,241,784		probably benign	Het
Pdgfrb	G	A	18: 61,078,648		probably null	Het
Proser1	C	A	3: 53,479,064	P789Q	probably benign	Het
Ptgs2	A	G	1: 150,101,037	Q7R	probably benign	Het
Rab3d	A	G	9: 21,914,686	V144A	probably benign	Het
Ralgapb	T	A	2: 158,439,547	L167H	probably damaging	Het
Ranbp3	A	G	17: 56,708,200	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,984,269	V587M	probably damaging	Het
Sec16b	A	G	1: 157,564,863		probably benign	Het
Sin3b	T	C	8: 72,753,536		probably benign	Het
Slc10a2	T	C	8: 5,098,562	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,210,401	V507I	probably benign	Het
Tmem8b	T	G	4: 43,669,896		probably null	Het
Trak1	A	T	9: 121,367,167	T22S	probably benign	Het
Trim30d	A	G	7: 104,487,655	I114T	probably damaging	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Ttn	T	C	2: 76,828,130		probably benign	Het
Vipr1	T	A	9: 121,660,171	Y99*	probably null	Het
Vmn1r210	T	C	13: 22,827,874	K81E	probably damaging	Het
Wwc1	T	C	11: 35,853,472	Y841C	probably benign	Het
Xrcc4	A	G	13: 90,000,905		probably benign	Het
Zdhhc22	A	T	12: 86,988,297	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,088,046	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,885,595	L18I	probably damaging	Het

Other mutations in Adamts14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Adamts14	APN	10	61229676	missense	probably damaging	1.00
IGL00800:Adamts14	APN	10	61205418	missense	probably benign	0.00
IGL01021:Adamts14	APN	10	61225373	missense	probably damaging	0.99
IGL01022:Adamts14	APN	10	61202942	missense	probably benign	0.01
IGL01335:Adamts14	APN	10	61198681	missense	possibly damaging	0.90
IGL01419:Adamts14	APN	10	61205542	splice site	probably benign
IGL01595:Adamts14	APN	10	61205473	missense	probably damaging	1.00
R0594:Adamts14	UTSW	10	61202887	missense	probably damaging	1.00
R1459:Adamts14	UTSW	10	61198804	missense	probably benign	0.13
R1565:Adamts14	UTSW	10	61270897	missense	probably damaging	1.00
R1686:Adamts14	UTSW	10	61198660	missense	probably benign
R1792:Adamts14	UTSW	10	61218498	missense	probably benign	0.07
R1876:Adamts14	UTSW	10	61200372	missense	probably benign	0.03
R1992:Adamts14	UTSW	10	61198660	missense	probably benign
R2064:Adamts14	UTSW	10	61205522	missense	probably benign	0.24
R2495:Adamts14	UTSW	10	61198970	splice site	probably null
R2848:Adamts14	UTSW	10	61218435	missense	probably damaging	1.00
R2897:Adamts14	UTSW	10	61204910	missense	probably damaging	0.99
R3428:Adamts14	UTSW	10	61224374	missense	probably benign	0.36
R4006:Adamts14	UTSW	10	61202821	critical splice donor site	probably null
R5129:Adamts14	UTSW	10	61249618	missense	probably benign	0.02
R5327:Adamts14	UTSW	10	61198488	missense	probably benign	0.01
R5524:Adamts14	UTSW	10	61230443	missense	probably damaging	1.00
R5594:Adamts14	UTSW	10	61227101	splice site	probably null
R5694:Adamts14	UTSW	10	61229652	missense	probably benign	0.45
R5801:Adamts14	UTSW	10	61202996	missense	probably damaging	0.99
R5941:Adamts14	UTSW	10	61221895	missense	probably damaging	1.00
R5953:Adamts14	UTSW	10	61207446	missense	probably damaging	0.99
R6778:Adamts14	UTSW	10	61225452	missense	probably damaging	1.00
R7169:Adamts14	UTSW	10	61204928	missense	probably damaging	0.97
R7215:Adamts14	UTSW	10	61211596	missense	possibly damaging	0.89
R7337:Adamts14	UTSW	10	61207460	missense	probably damaging	0.98
R7511:Adamts14	UTSW	10	61218528	missense	possibly damaging	0.74
R7640:Adamts14	UTSW	10	61246057	missense	probably benign	0.00
R7798:Adamts14	UTSW	10	61271173	missense	probably damaging	0.99
R7902:Adamts14	UTSW	10	61205397	missense	possibly damaging	0.92
R8062:Adamts14	UTSW	10	61200361	critical splice donor site	probably null
R8284:Adamts14	UTSW	10	61198659	missense	possibly damaging	0.55
R8319:Adamts14	UTSW	10	61221927	missense	probably benign
R8475:Adamts14	UTSW	10	61202887	missense	probably damaging	1.00
R8494:Adamts14	UTSW	10	61202929	missense	probably benign	0.03
R8519:Adamts14	UTSW	10	61202840	missense	possibly damaging	0.84
R8547:Adamts14	UTSW	10	61271219	missense	probably damaging	1.00
R8797:Adamts14	UTSW	10	61271002	missense	probably benign	0.44
R8978:Adamts14	UTSW	10	61203016	missense	probably damaging	0.96
R9023:Adamts14	UTSW	10	61203001	missense	probably damaging	1.00
R9067:Adamts14	UTSW	10	61249660	missense	possibly damaging	0.78
R9326:Adamts14	UTSW	10	61200459	missense	probably benign	0.00
R9641:Adamts14	UTSW	10	61271050	missense	probably damaging	1.00
R9785:Adamts14	UTSW	10	61213648	missense	possibly damaging	0.83
Z1088:Adamts14	UTSW	10	61218445	missense	probably damaging	1.00
Z1177:Adamts14	UTSW	10	61198843	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- TGAGCCCTTCTGCGAAATGACTC -3'
(R):5'- AAGAATCCAACCCTGGTTTCCAGC -3'

Sequencing Primer
(F):5'- AACAGCGGTTGATCCTGG -3'
(R):5'- TTTCCAGCCAAGGAAACAGG -3'

Posted On

2013-07-11