Mutagenetix > Incidental Mutation

Incidental Mutation 'R7337:Adamts14'

569597

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

045427-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61032891-61109217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61043239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 743 (V743A)

Ref Sequence

ENSEMBL: ENSMUSP00000090143 (fasta)

Gene Model

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

AlphaFold

E9PX39

Predicted Effect

probably damaging
Transcript: ENSMUST00000092486
AA Change: V743A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901
AA Change: V743A

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 damaging
Transcript: ENSMUST00000120336
AA Change: V746A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901
AA Change: V746A

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (88/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,076,113 (GRCm39)	H1198Q	probably damaging	Het
Adgrg6	A	G	10: 14,343,095 (GRCm39)	V284A	possibly damaging	Het
Alb	A	G	5: 90,622,452 (GRCm39)	K560R	probably damaging	Het
Aqp9	A	T	9: 71,069,764 (GRCm39)	F8L	probably benign	Het
Arhgef7	T	C	8: 11,835,789 (GRCm39)	L182P	probably damaging	Het
Atr	A	G	9: 95,753,501 (GRCm39)	D701G	probably damaging	Het
Calr3	C	T	8: 73,185,339 (GRCm39)	D187N	probably damaging	Het
Ccdc198	A	G	14: 49,471,948 (GRCm39)	M163T	possibly damaging	Het
Ccdc65	A	G	15: 98,618,977 (GRCm39)	T319A	probably benign	Het
Ccdc66	A	T	14: 27,222,290 (GRCm39)	L151H	probably damaging	Het
Ces2e	T	A	8: 105,657,688 (GRCm39)		probably null	Het
Cfap46	A	G	7: 139,210,492 (GRCm39)		probably null	Het
Cfap74	A	G	4: 155,544,472 (GRCm39)	T1034A	unknown	Het
Cldnd1	T	G	16: 58,549,322 (GRCm39)		probably null	Het
Clec4f	C	A	6: 83,630,190 (GRCm39)	V123L	probably benign	Het
Cntn6	C	T	6: 104,627,491 (GRCm39)	T108I	probably damaging	Het
Crygn	T	G	5: 24,961,147 (GRCm39)	D53A	possibly damaging	Het
Cyp27a1	T	A	1: 74,774,594 (GRCm39)	V204E	probably damaging	Het
Cyp2c67	A	T	19: 39,597,708 (GRCm39)		probably null	Het
Ddb1	T	C	19: 10,605,195 (GRCm39)	V1061A	possibly damaging	Het
Dnah12	G	T	14: 26,488,534 (GRCm39)		probably null	Het
Draxin	T	C	4: 148,197,216 (GRCm39)	T194A	probably benign	Het
Drosha	T	A	15: 12,846,285 (GRCm39)	D473E	possibly damaging	Het
Ecpas	T	C	4: 58,827,047 (GRCm39)	T1029A	possibly damaging	Het
G6pd2	T	A	5: 61,967,562 (GRCm39)	C446S	probably benign	Het
Gm29106	C	T	1: 118,104,642 (GRCm39)	S3L	unknown	Het
Grin3a	T	C	4: 49,702,762 (GRCm39)	Y908C	probably damaging	Het
Ints2	G	A	11: 86,108,668 (GRCm39)	A893V	probably benign	Het
Ippk	C	T	13: 49,602,767 (GRCm39)	T371I	probably benign	Het
Irf2	T	A	8: 47,260,316 (GRCm39)	C83S	probably damaging	Het
Jph3	C	T	8: 122,480,441 (GRCm39)	A373V	probably benign	Het
Kcnj6	C	T	16: 94,634,073 (GRCm39)	V13I	probably benign	Het
Lama3	T	C	18: 12,640,097 (GRCm39)		probably null	Het
Lmo7	A	T	14: 102,121,640 (GRCm39)	Q235L	probably damaging	Het
Marchf7	A	G	2: 60,071,189 (GRCm39)		probably null	Het
Mfsd6l	A	T	11: 68,448,109 (GRCm39)	Y320F	possibly damaging	Het
Mroh1	T	A	15: 76,335,676 (GRCm39)	W1440R	probably benign	Het
Mrps17	G	A	5: 129,793,863 (GRCm39)	G19D	probably damaging	Het
Myt1	A	G	2: 181,444,756 (GRCm39)	H566R	possibly damaging	Het
Nav2	T	C	7: 49,201,521 (GRCm39)	L176P	possibly damaging	Het
Nop58	T	A	1: 59,737,599 (GRCm39)	C139S	probably benign	Het
Nsd1	A	G	13: 55,394,022 (GRCm39)	D644G	probably damaging	Het
Nsd2	T	A	5: 34,042,816 (GRCm39)	C1027S	probably damaging	Het
Nsmce2	A	G	15: 59,473,265 (GRCm39)	I235V	probably damaging	Het
Nyap2	T	C	1: 81,314,230 (GRCm39)	V642A	possibly damaging	Het
Or14n1-ps1	A	T	7: 86,092,328 (GRCm39)	L46F	unknown	Het
Or8g51	A	G	9: 38,609,161 (GRCm39)	V167A	probably benign	Het
Paqr7	A	G	4: 134,234,431 (GRCm39)	D96G	probably benign	Het
Parp4	A	G	14: 56,839,852 (GRCm39)	Y520C	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Piezo1	A	T	8: 123,212,463 (GRCm39)	Y1955N		Het
Pnma8a	A	G	7: 16,695,315 (GRCm39)	K390R	probably benign	Het
Prdm10	G	T	9: 31,227,537 (GRCm39)	Q47H	probably damaging	Het
Psg22	T	A	7: 18,453,499 (GRCm39)	F104I	probably benign	Het
Ptprf	T	C	4: 118,068,322 (GRCm39)	E1738G	probably damaging	Het
Rad21l	A	T	2: 151,500,365 (GRCm39)	L218Q	probably damaging	Het
Rad54l2	A	G	9: 106,583,024 (GRCm39)	I798T	probably damaging	Het
Rgs5	G	T	1: 169,483,149 (GRCm39)	M1I	probably null	Het
Rhbdl2	T	C	4: 123,711,659 (GRCm39)	V132A	possibly damaging	Het
Rmi1	T	A	13: 58,557,393 (GRCm39)	Y547*	probably null	Het
Rptn	A	T	3: 93,304,212 (GRCm39)	D515V	probably benign	Het
Rsph10b	A	G	5: 143,898,033 (GRCm39)	N505D	probably benign	Het
Samhd1	T	C	2: 156,948,164 (GRCm39)	D539G	probably damaging	Het
Scube3	A	T	17: 28,387,156 (GRCm39)	I885F	probably damaging	Het
Sfmbt1	A	G	14: 30,506,696 (GRCm39)	I247V	possibly damaging	Het
Slc25a21	T	C	12: 56,904,828 (GRCm39)	I62V	probably benign	Het
Slc4a11	T	A	2: 130,527,452 (GRCm39)	N648Y	probably damaging	Het
Slc7a11	A	G	3: 50,397,448 (GRCm39)	V88A	possibly damaging	Het
Slc7a8	A	C	14: 54,964,263 (GRCm39)	F397V	possibly damaging	Het
Sox12	A	C	2: 152,239,377 (GRCm39)	L81R	probably damaging	Het
Spg11	T	C	2: 121,915,474 (GRCm39)	I1057V	probably benign	Het
St8sia3	G	A	18: 64,402,987 (GRCm39)	V265I	probably benign	Het
Stxbp5	A	G	10: 9,684,874 (GRCm39)	S509P	possibly damaging	Het
Svep1	T	C	4: 58,108,323 (GRCm39)	Y1129C	probably damaging	Het
Tenm4	G	T	7: 96,523,333 (GRCm39)	R1625L	probably benign	Het
Tlr4	T	C	4: 66,758,191 (GRCm39)	F328S	possibly damaging	Het
Tmprss15	T	C	16: 78,868,164 (GRCm39)	T215A	probably benign	Het
Tmprss9	A	T	10: 80,718,504 (GRCm39)	I62L	probably benign	Het
Trpm5	C	T	7: 142,642,756 (GRCm39)	A64T	probably benign	Het
Txk	A	C	5: 72,889,109 (GRCm39)	Y148*	probably null	Het
Uba5	C	T	9: 103,932,454 (GRCm39)	G170R	possibly damaging	Het
Uggt2	A	T	14: 119,323,587 (GRCm39)	D231E	probably benign	Het
Ulk4	A	T	9: 121,077,993 (GRCm39)	D525E	probably benign	Het
Vmn1r158	T	A	7: 22,489,649 (GRCm39)	T187S	probably benign	Het
Vmn1r52	T	A	6: 90,156,605 (GRCm39)	M303K	probably benign	Het
Vmn2r54	A	G	7: 12,356,044 (GRCm39)	F454S	probably benign	Het
Zbp1	A	T	2: 173,060,546 (GRCm39)	L8*	probably null	Het
Zmym2	A	T	14: 57,181,557 (GRCm39)	D924V	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
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
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

Predicted Primers

PCR Primer
(F):5'- CACACCTGGGAGAGACCATTTC -3'
(R):5'- CAGGACTGGTTTGCAGAGAG -3'

Sequencing Primer
(F):5'- TGGGAGAGACCATTTCAAAGTATACC -3'
(R):5'- ACTGGTTTGCAGAGAGCTCCTG -3'

Posted On

2019-09-13