Mutagenetix > Incidental Mutation

Incidental Mutation 'R1734:Adamts16'

199590

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

039766-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70727802-70841811 bp(-) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

G to A at 70779518 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122031 (fasta)

Gene Model

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

AlphaFold

Q69Z28

Predicted Effect

probably benign
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 benign
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

probably benign
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

Meta Mutation Damage Score

0.0967

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (59/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,585,460 (GRCm38)	C4695R	probably benign	Het
Actr10	T	A	12: 70,961,996 (GRCm38)	V401E	probably benign	Het
Aimp1	A	T	3: 132,674,796 (GRCm38)	I59K	probably damaging	Het
Alms1	T	A	6: 85,641,550 (GRCm38)		probably null	Het
Anln	A	T	9: 22,350,955 (GRCm38)	S947T	possibly damaging	Het
Atp2c1	T	C	9: 105,414,655 (GRCm38)	T733A	probably damaging	Het
BC049715	C	T	6: 136,840,308 (GRCm38)	P182L	probably damaging	Het
Cblb	T	C	16: 52,186,240 (GRCm38)		probably benign	Het
Cep295	C	T	9: 15,340,883 (GRCm38)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,138,097 (GRCm38)	G69S	probably damaging	Het
Chac1	A	T	2: 119,353,458 (GRCm38)	L180F	probably damaging	Het
Cherp	A	T	8: 72,470,088 (GRCm38)		probably null	Het
Ckap4	A	G	10: 84,527,874 (GRCm38)	S442P	probably benign	Het
Clstn3	G	A	6: 124,436,814 (GRCm38)		probably benign	Het
Crb2	T	A	2: 37,793,656 (GRCm38)	C1057S	probably damaging	Het
Dact2	T	C	17: 14,196,639 (GRCm38)	D433G	probably benign	Het
Dnah6	G	A	6: 73,044,761 (GRCm38)	T3526M	probably damaging	Het
Ethe1	A	G	7: 24,608,384 (GRCm38)	T210A	probably benign	Het
Fat2	A	G	11: 55,281,371 (GRCm38)	S2839P	probably benign	Het
Fbxl7	T	C	15: 26,543,649 (GRCm38)	Y304C	probably damaging	Het
Gad1-ps	A	T	10: 99,445,775 (GRCm38)		noncoding transcript	Het
Gm436	A	T	4: 144,670,026 (GRCm38)	C379S	probably benign	Het
Grm3	C	T	5: 9,589,742 (GRCm38)	R101K	probably benign	Het
Hspa12b	A	G	2: 131,138,536 (GRCm38)	Y125C	possibly damaging	Het
Il10ra	T	C	9: 45,255,943 (GRCm38)	T437A	probably benign	Het
Jcad	T	C	18: 4,674,526 (GRCm38)	F763L	probably damaging	Het
Map3k10	T	C	7: 27,658,115 (GRCm38)	D746G	probably damaging	Het
Mettl9	T	A	7: 121,047,841 (GRCm38)	Y57N	probably damaging	Het
Nav2	G	A	7: 49,575,720 (GRCm38)	E1803K	probably damaging	Het
Nol11	G	A	11: 107,175,623 (GRCm38)	S447L	possibly damaging	Het
Olfr294	C	T	7: 86,616,217 (GRCm38)	V143M	probably benign	Het
Osbpl1a	T	C	18: 12,788,316 (GRCm38)		probably null	Het
Pde6a	A	G	18: 61,285,965 (GRCm38)	N804S	probably damaging	Het
Pepd	A	T	7: 35,031,426 (GRCm38)	D301V	probably benign	Het
Piwil2	A	T	14: 70,426,505 (GRCm38)		probably null	Het
Plec	C	T	15: 76,186,218 (GRCm38)	V931M	probably damaging	Het
Prrc2a	A	G	17: 35,150,707 (GRCm38)	S1877P	possibly damaging	Het
Retreg2	G	T	1: 75,142,986 (GRCm38)		probably null	Het
Slc7a11	G	A	3: 50,372,346 (GRCm38)	Q489*	probably null	Het
Sned1	G	A	1: 93,259,768 (GRCm38)	D256N	probably damaging	Het
Sphkap	G	A	1: 83,277,515 (GRCm38)	R838*	probably null	Het
Ssfa2	G	A	2: 79,657,822 (GRCm38)	V750M	probably damaging	Het
Syce2	G	A	8: 84,887,147 (GRCm38)	E168K	probably benign	Het
Tex37	T	A	6: 70,913,661 (GRCm38)	Q49L	probably benign	Het
Tmem260	G	T	14: 48,509,093 (GRCm38)	V609L	probably benign	Het
Trim35	A	G	14: 66,309,329 (GRCm38)	D515G	probably damaging	Het
Tspan5	T	C	3: 138,898,140 (GRCm38)	Y131H	probably damaging	Het
Ttbk2	T	C	2: 120,755,838 (GRCm38)	I466V	probably benign	Het
Ttn	T	C	2: 76,745,813 (GRCm38)	D24912G	probably damaging	Het
Utp20	A	T	10: 88,767,461 (GRCm38)	N1843K	probably damaging	Het
Vmn1r20	A	G	6: 57,432,300 (GRCm38)	R204G	probably damaging	Het
Vps18	A	T	2: 119,293,942 (GRCm38)	Q450L	probably benign	Het
Zbtb4	A	G	11: 69,776,463 (GRCm38)	E198G	probably benign	Het

Other mutations in Adamts16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Adamts16	APN	13	70,795,484 (GRCm38)	missense	probably benign	0.01
IGL01338:Adamts16	APN	13	70,836,115 (GRCm38)	missense	probably damaging	1.00
IGL01663:Adamts16	APN	13	70,793,141 (GRCm38)	missense	probably benign	0.01
IGL01804:Adamts16	APN	13	70,800,961 (GRCm38)	nonsense	probably null
IGL01874:Adamts16	APN	13	70,768,704 (GRCm38)	missense	possibly damaging	0.79
IGL01984:Adamts16	APN	13	70,787,147 (GRCm38)	missense	probably damaging	1.00
IGL02305:Adamts16	APN	13	70,772,929 (GRCm38)	missense	probably damaging	1.00
IGL02350:Adamts16	APN	13	70,738,585 (GRCm38)	missense	probably benign	0.00
IGL02357:Adamts16	APN	13	70,738,585 (GRCm38)	missense	probably benign	0.00
IGL02429:Adamts16	APN	13	70,787,170 (GRCm38)	splice site	probably benign
IGL02450:Adamts16	APN	13	70,836,300 (GRCm38)	missense	probably damaging	0.97
IGL02807:Adamts16	APN	13	70,738,778 (GRCm38)	critical splice donor site	probably null
IGL03356:Adamts16	APN	13	70,753,291 (GRCm38)	missense	probably benign	0.00
swap	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
switcheroo	UTSW	13	70,800,954 (GRCm38)	missense	probably benign
R0046:Adamts16	UTSW	13	70,763,460 (GRCm38)	missense	probably benign	0.00
R0046:Adamts16	UTSW	13	70,763,460 (GRCm38)	missense	probably benign	0.00
R0201:Adamts16	UTSW	13	70,779,644 (GRCm38)	missense	possibly damaging	0.69
R0326:Adamts16	UTSW	13	70,779,611 (GRCm38)	missense	possibly damaging	0.89
R0336:Adamts16	UTSW	13	70,791,794 (GRCm38)	critical splice donor site	probably benign
R0369:Adamts16	UTSW	13	70,779,552 (GRCm38)	missense	possibly damaging	0.94
R0422:Adamts16	UTSW	13	70,738,955 (GRCm38)	missense	probably damaging	1.00
R0507:Adamts16	UTSW	13	70,768,647 (GRCm38)	missense	probably benign
R0524:Adamts16	UTSW	13	70,800,894 (GRCm38)	missense	probably benign	0.00
R0590:Adamts16	UTSW	13	70,800,954 (GRCm38)	missense	probably benign
R0734:Adamts16	UTSW	13	70,738,481 (GRCm38)	splice site	probably benign
R0787:Adamts16	UTSW	13	70,738,829 (GRCm38)	missense	probably damaging	1.00
R0826:Adamts16	UTSW	13	70,768,692 (GRCm38)	missense	possibly damaging	0.64
R0920:Adamts16	UTSW	13	70,763,561 (GRCm38)	splice site	probably benign
R1027:Adamts16	UTSW	13	70,767,802 (GRCm38)	missense	probably damaging	1.00
R1462:Adamts16	UTSW	13	70,836,134 (GRCm38)	missense	probably benign	0.00
R1462:Adamts16	UTSW	13	70,836,134 (GRCm38)	missense	probably benign	0.00
R1535:Adamts16	UTSW	13	70,791,794 (GRCm38)	critical splice donor site	probably null
R1617:Adamts16	UTSW	13	70,798,035 (GRCm38)	missense	probably benign	0.09
R1700:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R1736:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R1737:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R1738:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R1746:Adamts16	UTSW	13	70,779,598 (GRCm38)	splice site	probably null
R1869:Adamts16	UTSW	13	70,735,747 (GRCm38)	missense	probably damaging	1.00
R1944:Adamts16	UTSW	13	70,791,886 (GRCm38)	missense	possibly damaging	0.93
R1997:Adamts16	UTSW	13	70,753,267 (GRCm38)	missense	probably benign	0.39
R2018:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R2135:Adamts16	UTSW	13	70,801,007 (GRCm38)	missense	probably damaging	1.00
R2219:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R2228:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R3410:Adamts16	UTSW	13	70,753,226 (GRCm38)	missense	probably benign	0.00
R3411:Adamts16	UTSW	13	70,753,226 (GRCm38)	missense	probably benign	0.00
R3842:Adamts16	UTSW	13	70,738,891 (GRCm38)	missense	possibly damaging	0.92
R4117:Adamts16	UTSW	13	70,767,992 (GRCm38)	missense	probably benign	0.01
R4435:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R4436:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R4526:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R4552:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R4555:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R4556:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R4557:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R4579:Adamts16	UTSW	13	70,779,624 (GRCm38)	missense	probably damaging	1.00
R4639:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R4640:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R4641:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R4642:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R4672:Adamts16	UTSW	13	70,779,518 (GRCm38)	critical splice donor site	probably benign
R5350:Adamts16	UTSW	13	70,753,196 (GRCm38)	nonsense	probably null
R5464:Adamts16	UTSW	13	70,761,749 (GRCm38)	missense	probably benign	0.01
R5613:Adamts16	UTSW	13	70,730,134 (GRCm38)	missense	probably benign	0.01
R5667:Adamts16	UTSW	13	70,836,375 (GRCm38)	nonsense	probably null
R5735:Adamts16	UTSW	13	70,836,218 (GRCm38)	missense	possibly damaging	0.94
R5762:Adamts16	UTSW	13	70,738,498 (GRCm38)	missense	probably damaging	1.00
R5907:Adamts16	UTSW	13	70,728,910 (GRCm38)	missense	probably damaging	1.00
R6169:Adamts16	UTSW	13	70,770,274 (GRCm38)	nonsense	probably null
R6351:Adamts16	UTSW	13	70,836,203 (GRCm38)	missense	probably damaging	1.00
R6665:Adamts16	UTSW	13	70,779,570 (GRCm38)	missense	probably damaging	1.00
R6913:Adamts16	UTSW	13	70,728,898 (GRCm38)	missense	possibly damaging	0.94
R6982:Adamts16	UTSW	13	70,768,520 (GRCm38)	splice site	probably null
R6996:Adamts16	UTSW	13	70,798,038 (GRCm38)	critical splice acceptor site	probably null
R7313:Adamts16	UTSW	13	70,772,955 (GRCm38)	nonsense	probably null
R7356:Adamts16	UTSW	13	70,836,280 (GRCm38)	missense	probably benign	0.03
R7509:Adamts16	UTSW	13	70,787,164 (GRCm38)	missense	probably damaging	1.00
R7595:Adamts16	UTSW	13	70,730,115 (GRCm38)	missense	probably damaging	1.00
R7782:Adamts16	UTSW	13	70,836,146 (GRCm38)	missense	probably damaging	0.97
R7968:Adamts16	UTSW	13	70,738,582 (GRCm38)	missense	probably benign
R8231:Adamts16	UTSW	13	70,777,480 (GRCm38)	missense	probably damaging	0.99
R8232:Adamts16	UTSW	13	70,793,098 (GRCm38)	missense	probably damaging	1.00
R8470:Adamts16	UTSW	13	70,836,377 (GRCm38)	missense	probably damaging	1.00
R8485:Adamts16	UTSW	13	70,738,675 (GRCm38)	missense	possibly damaging	0.89
R8772:Adamts16	UTSW	13	70,836,334 (GRCm38)	missense	probably damaging	1.00
R8916:Adamts16	UTSW	13	70,793,188 (GRCm38)	missense	probably damaging	1.00
R8921:Adamts16	UTSW	13	70,791,791 (GRCm38)	splice site	probably benign
R8973:Adamts16	UTSW	13	70,738,840 (GRCm38)	missense	probably benign	0.00
R9132:Adamts16	UTSW	13	70,753,289 (GRCm38)	missense	probably benign	0.39
R9149:Adamts16	UTSW	13	70,735,829 (GRCm38)	missense	probably damaging	1.00
R9159:Adamts16	UTSW	13	70,753,289 (GRCm38)	missense	probably benign	0.39
R9312:Adamts16	UTSW	13	70,800,926 (GRCm38)	missense	probably damaging	1.00
R9584:Adamts16	UTSW	13	70,801,017 (GRCm38)	missense	probably damaging	1.00
Z1176:Adamts16	UTSW	13	70,761,773 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAAAGTATCTCCCATCATCTGCTCCG -3'
(R):5'- GGAAACCCTCACGTTAGACATCTGC -3'

Sequencing Primer
(F):5'- ATCTGCTCCGCCAGGAAAG -3'
(R):5'- TCTGTCATCAAATTGCATGGG -3'

Posted On

2014-05-23