Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01804:Adamts16'

155630

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts16

Ensembl Gene

ENSMUSG00000049538

Gene Name

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

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01804

Quality Score

Status

Chromosome

Chromosomal Location

70727802-70841811 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 70800961 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 194 (Q194*)

Ref Sequence

ENSEMBL: ENSMUSP00000122031 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000080145
AA Change: Q194*

SMART Domains

Protein: ENSMUSP00000079041
Gene: ENSMUSG00000049538
AA Change: Q194*

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
AA Change: Q194*

SMART Domains

Protein: ENSMUSP00000105316
Gene: ENSMUSG00000049538
AA Change: Q194*

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

probably null
Transcript: ENSMUST00000123552
AA Change: Q194*

SMART Domains

Protein: ENSMUSP00000122031
Gene: ENSMUSG00000049538
AA Change: Q194*

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

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,276,183	N1860D	probably benign	Het
Abca2	T	A	2: 25,446,625	C2248S	probably damaging	Het
Cetn3	A	T	13: 81,784,660	K13*	probably null	Het
Cldn18	T	A	9: 99,698,848	K116*	probably null	Het
Cntn5	T	A	9: 9,831,537	I613F	probably damaging	Het
Cyp46a1	A	G	12: 108,355,486	I324V	probably benign	Het
Ddb1	A	C	19: 10,613,018	E303A	probably damaging	Het
Dnajc2	A	G	5: 21,757,363	V539A	probably damaging	Het
Dock2	T	A	11: 34,262,433	Y1236F	probably benign	Het
Dpf1	T	A	7: 29,316,501	C383S	probably damaging	Het
Edc4	T	A	8: 105,890,657	I1052N	possibly damaging	Het
Ehmt1	A	G	2: 24,791,954	L1243P	probably damaging	Het
Exoc6b	A	G	6: 84,908,166	S264P	probably damaging	Het
Gbx2	T	C	1: 89,928,981	E229G	probably benign	Het
Hip1r	T	A	5: 124,001,550		probably null	Het
Lig1	A	G	7: 13,309,206	K859E	probably benign	Het
Ly6g6f	T	C	17: 35,081,170	D234G	possibly damaging	Het
Mmp11	G	T	10: 75,928,470	L54I	probably benign	Het
Naip5	A	T	13: 100,221,584	L1048Q	probably damaging	Het
Olfr1228	C	A	2: 89,249,222	M157I	probably benign	Het
Olfr146	T	C	9: 39,019,401	I47V	probably benign	Het
Olfr427	A	G	1: 174,099,835	I126V	probably damaging	Het
Olfr834	T	A	9: 18,988,840	M284K	probably benign	Het
Pappa2	T	C	1: 158,936,519	D474G	probably benign	Het
Plxna1	A	G	6: 89,329,646	Y1401H	probably damaging	Het
Prrg4	T	A	2: 104,832,690	E190D	probably damaging	Het
Rnf213	T	C	11: 119,442,266	F2767S	probably damaging	Het
Scgb1b2	T	A	7: 31,291,730		probably benign	Het
Sec31a	A	G	5: 100,375,206		probably null	Het
Slc12a4	A	G	8: 105,944,401	S1014P	probably damaging	Het
Spns2	A	T	11: 72,457,304	I279N	possibly damaging	Het
Spta1	A	T	1: 174,244,180	H2242L	probably benign	Het
Tcaf3	T	A	6: 42,597,129	I50F	probably damaging	Het
Tnfaip8l1	G	A	17: 56,172,214	S168N	probably benign	Het
Trak1	C	T	9: 121,442,685		probably benign	Het
Trpv4	A	T	5: 114,644,786	N38K	possibly damaging	Het
Ube2o	T	C	11: 116,544,373	T530A	probably benign	Het
Vmn2r2	A	G	3: 64,134,256	V346A	possibly damaging	Het
Vmn2r86	A	C	10: 130,452,989	D214E	probably damaging	Het
Wwc1	C	A	11: 35,841,924	D986Y	probably damaging	Het
Xdh	T	C	17: 73,892,759	D1184G	probably damaging	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
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
swap	UTSW	13	70779518	critical splice donor site	probably benign
switcheroo	UTSW	13	70800954	missense	probably benign
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
R1746:Adamts16	UTSW	13	70779598	synonymous	probably null
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
R6982:Adamts16	UTSW	13	70768520	intron	probably null
R6996:Adamts16	UTSW	13	70798038	critical splice acceptor site	probably null
R7313:Adamts16	UTSW	13	70772955	nonsense	probably null
R7356:Adamts16	UTSW	13	70836280	missense	probably benign	0.03
R7509:Adamts16	UTSW	13	70787164	missense	probably damaging	1.00
R7595:Adamts16	UTSW	13	70730115	missense	probably damaging	1.00
R7782:Adamts16	UTSW	13	70836146	missense	probably damaging	0.97
Z1176:Adamts16	UTSW	13	70761773	missense	probably benign

Posted On

2014-02-04