Mutagenetix > Incidental Mutation

Incidental Mutation 'R7640:Adamts14'

590196

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

045698-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7640 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61032891-61109217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61081836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 234 (A234S)

Ref Sequence

ENSEMBL: ENSMUSP00000090143 (fasta)

Gene Model

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

AlphaFold

E9PX39

Predicted Effect

probably benign
Transcript: ENSMUST00000092486
AA Change: A234S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901
AA Change: A234S

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: A234S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901
AA Change: A234S

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: 99.2%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,181,905 (GRCm39)	N20I	probably damaging	Het
4930558K02Rik	A	G	1: 161,784,718 (GRCm39)	S74P	probably benign	Het
Abcb6	A	T	1: 75,151,489 (GRCm39)		probably null	Het
Ankrd42	A	G	7: 92,268,843 (GRCm39)	S167P	probably benign	Het
Ap3m1	T	C	14: 21,088,243 (GRCm39)	I272V	probably benign	Het
Armt1	T	C	10: 4,403,572 (GRCm39)	F219S	probably damaging	Het
Atr	T	G	9: 95,789,346 (GRCm39)		probably null	Het
Cep72	G	A	13: 74,206,607 (GRCm39)	Q72*	probably null	Het
Clock	G	T	5: 76,396,225 (GRCm39)	L175M	possibly damaging	Het
Cnmd	T	A	14: 79,898,974 (GRCm39)	Y26F	possibly damaging	Het
Col6a6	A	T	9: 105,662,943 (GRCm39)	M198K	possibly damaging	Het
Cuta	C	T	17: 27,157,396 (GRCm39)	V135I	probably benign	Het
Ddx41	A	T	13: 55,682,052 (GRCm39)	M241K	possibly damaging	Het
Dnajc22	A	G	15: 98,998,995 (GRCm39)	N60S	probably damaging	Het
Drc3	A	G	11: 60,279,730 (GRCm39)	M432V	probably benign	Het
Dync2i2	T	G	2: 29,921,780 (GRCm39)	D527A	probably benign	Het
Eef1d	C	A	15: 75,774,556 (GRCm39)	G368C	probably damaging	Het
En2	A	T	5: 28,375,164 (GRCm39)	K236*	probably null	Het
Fas	A	G	19: 34,284,564 (GRCm39)	T24A	possibly damaging	Het
Golga2	T	C	2: 32,196,251 (GRCm39)	V930A	probably benign	Het
Gprin2	G	T	14: 33,917,710 (GRCm39)	A20D	probably benign	Het
Ighv14-4	A	T	12: 114,140,064 (GRCm39)	C115*	probably null	Het
Impdh2	T	C	9: 108,442,380 (GRCm39)	Y459H	possibly damaging	Het
Klhdc7b	G	T	15: 89,271,463 (GRCm39)	V124L	possibly damaging	Het
L2hgdh	A	T	12: 69,768,131 (GRCm39)	Y122*	probably null	Het
Lamc2	A	T	1: 153,012,550 (GRCm39)	I708N	possibly damaging	Het
Large2	T	C	2: 92,205,050 (GRCm39)	M1V	probably null	Het
Lrit2	T	C	14: 36,794,081 (GRCm39)	W382R	probably damaging	Het
Mcee	T	A	7: 64,061,716 (GRCm39)	V173E	probably damaging	Het
Mcph1	T	A	8: 18,682,342 (GRCm39)	V493E	probably benign	Het
Mfap4	A	G	11: 61,377,913 (GRCm39)	N118D	probably damaging	Het
Mknk2	T	C	10: 80,504,400 (GRCm39)	S301G	probably benign	Het
Mlf1	G	A	3: 67,300,266 (GRCm39)	M94I	possibly damaging	Het
Mrc2	T	A	11: 105,223,121 (GRCm39)	S455T	possibly damaging	Het
Mrgprb5	T	G	7: 47,818,007 (GRCm39)	I243L	probably benign	Het
Muc4	C	A	16: 32,580,479 (GRCm39)	P360T		Het
Nat10	G	A	2: 103,573,435 (GRCm39)	A354V	probably damaging	Het
Nscme3l	T	A	19: 5,553,035 (GRCm39)	S249C	probably damaging	Het
Nts	T	C	10: 102,326,165 (GRCm39)	Q7R	possibly damaging	Het
Oas1b	T	C	5: 120,959,479 (GRCm39)	L288P	probably damaging	Het
Or4a66	T	A	2: 88,531,230 (GRCm39)	I148L	probably benign	Het
Or51k2	A	T	7: 103,596,150 (GRCm39)	I126F	probably damaging	Het
Or5w11	A	G	2: 87,459,436 (GRCm39)	I94V	probably benign	Het
Or8k30	A	G	2: 86,339,287 (GRCm39)	I161M	possibly damaging	Het
Otoa	A	G	7: 120,744,849 (GRCm39)	E869G	probably damaging	Het
Pcdhac2	T	C	18: 37,277,578 (GRCm39)	L186P	probably damaging	Het
Plekhh2	A	G	17: 84,918,204 (GRCm39)	E1271G	possibly damaging	Het
Pmepa1	C	T	2: 173,117,956 (GRCm39)	A8T	probably benign	Het
Pramel24	T	C	4: 143,453,276 (GRCm39)	V128A	probably benign	Het
Rc3h2	A	G	2: 37,267,861 (GRCm39)		probably null	Het
Rlf	T	A	4: 121,003,998 (GRCm39)	M1771L	possibly damaging	Het
Rpap1	G	A	2: 119,594,891 (GRCm39)	P1372L	possibly damaging	Het
Rragd	A	T	4: 32,983,527 (GRCm39)	D22V	probably benign	Het
Sema3f	A	T	9: 107,560,774 (GRCm39)	S644R	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spata31h1	T	A	10: 82,130,490 (GRCm39)	N840I	probably damaging	Het
Specc1l	T	A	10: 75,093,703 (GRCm39)	N717K	probably damaging	Het
Sphkap	C	T	1: 83,256,649 (GRCm39)	D367N	possibly damaging	Het
Tbc1d21	C	T	9: 58,268,544 (GRCm39)	V272M	probably damaging	Het
Tlcd4	A	G	3: 121,028,690 (GRCm39)		probably null	Het
Tmem132c	A	G	5: 127,640,070 (GRCm39)	D747G	probably damaging	Het
Trim2	C	A	3: 84,098,213 (GRCm39)	V372F	probably benign	Het
Ttc34	A	G	4: 154,945,841 (GRCm39)	T292A	probably benign	Het
Ube3b	A	G	5: 114,553,384 (GRCm39)	T919A	probably benign	Het
Zfhx4	T	C	3: 5,477,540 (GRCm39)	I3385T	probably benign	Het
Zfp423	T	C	8: 88,507,905 (GRCm39)	K813R	probably damaging	Het
Zfp850	T	C	7: 27,688,634 (GRCm39)	T525A	probably benign	Het
Zfp873	T	C	10: 81,896,109 (GRCm39)	I280T	possibly damaging	Het
Zkscan7	A	G	9: 122,725,121 (GRCm39)	T697A	possibly damaging	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
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'- AACATTAGCACTGGCAGAAGC -3'
(R):5'- CGCTCTAGTAGGGTTTCAGATGAG -3'

Sequencing Primer
(F):5'- CAGAAGCCCGCCCACCC -3'
(R):5'- TTGCAGTCCCAAAGTTCAGG -3'

Posted On

2019-10-24