Mutagenetix > Incidental Mutations

Incidental Mutation 'R1746:Adamts16'

265948

Institutional Source

Beutler Lab

Gene Symbol

Adamts16

Ensembl Gene

ENSMUSG00000049538

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 16

Synonyms

MMRRC Submission

039778-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R1746 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70727802-70841811 bp(-) (GRCm38)

Type of Mutation

synonymous

DNA Base Change (assembly)

T to A at 70779598 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080145] [ENSMUST00000109694] [ENSMUST00000123552]

Predicted Effect

probably null
Transcript: ENSMUST00000080145

SMART Domains

Protein: ENSMUSP00000079041
Gene: ENSMUSG00000049538

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	26	36	N/A	INTRINSIC
Pfam:Pep_M12B_propep	57	203	7.8e-34	PFAM
Pfam:Reprolysin_5	287	470	2.9e-13	PFAM
Pfam:Reprolysin_4	289	489	1.2e-8	PFAM
Pfam:Reprolysin	289	493	5.4e-32	PFAM
Pfam:Reprolysin_2	306	483	3.7e-10	PFAM
Pfam:Reprolysin_3	310	442	6.4e-11	PFAM
TSP1	587	639	1.43e-14	SMART
Pfam:ADAM_spacer1	744	856	1.3e-37	PFAM
TSP1	872	926	3.48e0	SMART
TSP1	928	985	4.84e-3	SMART
TSP1	987	1046	1.49e-3	SMART
TSP1	1052	1113	3.19e-2	SMART
TSP1	1127	1179	7.68e-6	SMART
Pfam:PLAC	1188	1218	2.9e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109694

SMART Domains

Protein: ENSMUSP00000105316
Gene: ENSMUSG00000049538

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	26	36	N/A	INTRINSIC
Pfam:Pep_M12B_propep	56	203	2.2e-32	PFAM
Pfam:Reprolysin_5	287	470	1.8e-13	PFAM
Pfam:Reprolysin_4	289	489	7.3e-9	PFAM
Pfam:Reprolysin	289	493	4.6e-33	PFAM
Pfam:Reprolysin_2	306	483	4.1e-10	PFAM
Pfam:Reprolysin_3	310	442	3.3e-10	PFAM
TSP1	587	639	1.43e-14	SMART
Pfam:ADAM_spacer1	744	856	1.3e-37	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000123552

SMART Domains

Protein: ENSMUSP00000122031
Gene: ENSMUSG00000049538

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	26	36	N/A	INTRINSIC
Pfam:Pep_M12B_propep	56	203	5.9e-33	PFAM
Pfam:Reprolysin_5	287	470	5.1e-14	PFAM
Pfam:Reprolysin_4	289	489	2.2e-9	PFAM
Pfam:Reprolysin	289	493	1.2e-33	PFAM
Pfam:Reprolysin_2	306	483	1.2e-10	PFAM
Pfam:Reprolysin_3	310	442	9.7e-11	PFAM
TSP1	587	639	1.43e-14	SMART

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. This gene is co-expressed with the Wilms tumor protein, Wt1, in the developing glomeruli of embryonic kidneys. The encoded preproprotein undergoes proteolytic processing to generate an active enzyme. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Aknad1	A	G	3: 108,751,783	T38A	possibly damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arhgap21	T	C	2: 20,861,099	E902G	probably damaging	Het
Atg2b	A	G	12: 105,669,329	S227P	possibly damaging	Het
Atp2c2	C	T	8: 119,734,443		probably benign	Het
Atxn10	T	C	15: 85,376,663	V203A	probably damaging	Het
Chd9	A	C	8: 91,010,698	E1468D	probably benign	Het
Cntn5	T	A	9: 9,831,572	D601V	probably damaging	Het
Col4a2	G	A	8: 11,446,020	G1547D	probably benign	Het
Cul1	A	G	6: 47,508,245	E270G	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dmgdh	C	A	13: 93,752,425	T857K	probably benign	Het
Ednra	T	G	8: 77,671,582	T279P	probably benign	Het
Erbin	A	G	13: 103,850,831	I407T	probably damaging	Het
Fggy	A	G	4: 95,926,728	Y440C	probably damaging	Het
Flrt2	A	T	12: 95,780,792	N635Y	possibly damaging	Het
Fnbp1l	A	G	3: 122,556,491	I357T	probably benign	Het
Gulp1	A	G	1: 44,754,353	H58R	possibly damaging	Het
Hid1	A	T	11: 115,354,638	V446E	probably damaging	Het
Igfn1	A	G	1: 135,969,823	S1002P	possibly damaging	Het
Klri1	A	G	6: 129,698,155		probably null	Het
Kmt2d	A	C	15: 98,864,378	L409R	probably damaging	Het
Ltn1	A	C	16: 87,411,781	S810A	possibly damaging	Het
Mysm1	G	A	4: 94,948,411	Q721*	probably null	Het
Nae1	A	G	8: 104,527,385	V105A	possibly damaging	Het
Nagpa	C	T	16: 5,203,639	V83M	probably damaging	Het
Nrg2	G	A	18: 36,021,922	T503M	probably damaging	Het
Nrxn3	A	G	12: 89,255,019	M150V	possibly damaging	Het
Olfr472	C	A	7: 107,902,886	H56Q	probably benign	Het
Olfr945	A	G	9: 39,258,202	S157P	probably damaging	Het
Papola	T	A	12: 105,807,209	D162E	probably benign	Het
Plxnc1	T	C	10: 94,844,179		probably null	Het
Ppp1r16b	T	A	2: 158,746,665		probably null	Het
Ptprq	T	A	10: 107,638,830	E1338V	probably damaging	Het
Puf60	G	A	15: 76,070,784	H437Y	probably benign	Het
Qsox2	C	T	2: 26,220,638	V189I	probably benign	Het
Rad51ap2	A	T	12: 11,457,775	D566V	probably benign	Het
Rb1cc1	T	A	1: 6,263,013		probably null	Het
Rfpl4b	C	T	10: 38,821,053	C184Y	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rundc3a	GAGCC	GAGCCAGCC	11: 102,400,913		probably null	Het
Scara5	A	C	14: 65,731,090	M271L	probably benign	Het
Sel1l2	A	G	2: 140,285,237	L118P	probably damaging	Het
Sema6a	T	A	18: 47,306,349		probably benign	Het
Siglech	T	A	7: 55,768,504	H73Q	probably benign	Het
Sim1	A	G	10: 50,984,109	D689G	probably benign	Het
Skp2	T	C	15: 9,139,443	E55G	possibly damaging	Het
Slc1a1	T	A	19: 28,894,469	V114E	probably benign	Het
Slc26a6	G	A	9: 108,861,717	G614D	probably benign	Het
Sptbn2	C	T	19: 4,745,964	Q1724*	probably null	Het
Tet3	T	C	6: 83,368,068	T1796A	probably damaging	Het
Tmem117	A	C	15: 94,931,833	D183A	possibly damaging	Het
Trmt44	A	G	5: 35,564,059	S587P	probably benign	Het
Ttn	G	T	2: 76,788,822		probably benign	Het
Tubgcp5	G	A	7: 55,808,537	V399M	probably benign	Het
Txndc2	T	A	17: 65,638,135	D349V	probably damaging	Het
Uggt2	T	A	14: 119,013,503	N1194I	probably benign	Het
Vmn1r178	A	T	7: 23,893,904	I53L	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het

Other mutations in Adamts16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Adamts16	APN	13	70795484	missense	probably benign	0.01
IGL01338:Adamts16	APN	13	70836115	missense	probably damaging	1.00
IGL01663:Adamts16	APN	13	70793141	missense	probably benign	0.01
IGL01804:Adamts16	APN	13	70800961	nonsense	probably null
IGL01874:Adamts16	APN	13	70768704	missense	possibly damaging	0.79
IGL01984:Adamts16	APN	13	70787147	missense	probably damaging	1.00
IGL02305:Adamts16	APN	13	70772929	missense	probably damaging	1.00
IGL02350:Adamts16	APN	13	70738585	missense	probably benign	0.00
IGL02357:Adamts16	APN	13	70738585	missense	probably benign	0.00
IGL02429:Adamts16	APN	13	70787170	splice site	probably benign
IGL02450:Adamts16	APN	13	70836300	missense	probably damaging	0.97
IGL02807:Adamts16	APN	13	70738778	critical splice donor site	probably null
IGL03356:Adamts16	APN	13	70753291	missense	probably benign	0.00
R0046:Adamts16	UTSW	13	70763460	missense	probably benign	0.00
R0046:Adamts16	UTSW	13	70763460	missense	probably benign	0.00
R0201:Adamts16	UTSW	13	70779644	missense	possibly damaging	0.69
R0326:Adamts16	UTSW	13	70779611	missense	possibly damaging	0.89
R0336:Adamts16	UTSW	13	70791794	critical splice donor site	probably benign
R0369:Adamts16	UTSW	13	70779552	missense	possibly damaging	0.94
R0422:Adamts16	UTSW	13	70738955	missense	probably damaging	1.00
R0507:Adamts16	UTSW	13	70768647	missense	probably benign
R0524:Adamts16	UTSW	13	70800894	missense	probably benign	0.00
R0590:Adamts16	UTSW	13	70800954	missense	probably benign
R0734:Adamts16	UTSW	13	70738481	splice site	probably benign
R0787:Adamts16	UTSW	13	70738829	missense	probably damaging	1.00
R0826:Adamts16	UTSW	13	70768692	missense	possibly damaging	0.64
R0920:Adamts16	UTSW	13	70763561	splice site	probably benign
R1027:Adamts16	UTSW	13	70767802	missense	probably damaging	1.00
R1462:Adamts16	UTSW	13	70836134	missense	probably benign	0.00
R1462:Adamts16	UTSW	13	70836134	missense	probably benign	0.00
R1535:Adamts16	UTSW	13	70791794	critical splice donor site	probably null
R1617:Adamts16	UTSW	13	70798035	missense	probably benign	0.09
R1700:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R1734:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R1736:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R1737:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R1738:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R1869:Adamts16	UTSW	13	70735747	missense	probably damaging	1.00
R1944:Adamts16	UTSW	13	70791886	missense	possibly damaging	0.93
R1997:Adamts16	UTSW	13	70753267	missense	probably benign	0.39
R2018:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R2135:Adamts16	UTSW	13	70801007	missense	probably damaging	1.00
R2219:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R2228:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R3410:Adamts16	UTSW	13	70753226	missense	probably benign	0.00
R3411:Adamts16	UTSW	13	70753226	missense	probably benign	0.00
R3842:Adamts16	UTSW	13	70738891	missense	possibly damaging	0.92
R4117:Adamts16	UTSW	13	70767992	missense	probably benign	0.01
R4435:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R4436:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R4526:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R4552:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R4555:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R4556:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R4557:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R4579:Adamts16	UTSW	13	70779624	missense	probably damaging	1.00
R4639:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R4640:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R4641:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R4642:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R4672:Adamts16	UTSW	13	70779518	critical splice donor site	probably benign
R5350:Adamts16	UTSW	13	70753196	nonsense	probably null
R5464:Adamts16	UTSW	13	70761749	missense	probably benign	0.01
R5613:Adamts16	UTSW	13	70730134	missense	probably benign	0.01
R5667:Adamts16	UTSW	13	70836375	nonsense	probably null
R5735:Adamts16	UTSW	13	70836218	missense	possibly damaging	0.94
R5762:Adamts16	UTSW	13	70738498	missense	probably damaging	1.00
R5907:Adamts16	UTSW	13	70728910	missense	probably damaging	1.00
R6169:Adamts16	UTSW	13	70770274	nonsense	probably null
R6351:Adamts16	UTSW	13	70836203	missense	probably damaging	1.00
R6665:Adamts16	UTSW	13	70779570	missense	probably damaging	1.00
R6913:Adamts16	UTSW	13	70728898	missense	possibly damaging	0.94

Predicted Primers

Posted On

2015-02-05