Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02152:Adamts6'

282081

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts6

Ensembl Gene

ENSMUSG00000046169

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 6

Synonyms

b2b2187.1Clo, b2b2182Clo, ADAM-TS6, b2b2029Clo, b2b1879.1Clo, b2b2228Clo, A930019D11Rik

Accession Numbers

NCBI RefSeq: NM_001081020.1; MGI: 1347348

Is this an essential gene?

Probably essential (E-score: 0.894) question?

Stock #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

104287835-104496695 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104313660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 290 (S290C)

Ref Sequence

ENSEMBL: ENSMUSP00000153359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065766] [ENSMUST00000223562] [ENSMUST00000224208] [ENSMUST00000224303] [ENSMUST00000224504] [ENSMUST00000224742] [ENSMUST00000224784]

AlphaFold

D3Z1A5

Predicted Effect

probably null
Transcript: ENSMUST00000065766
AA Change: S290C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: S290C

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	43	191	4.2e-40	PFAM
Pfam:Reprolysin_5	248	443	3.8e-17	PFAM
Pfam:Reprolysin_4	248	464	4.9e-12	PFAM
Pfam:Reprolysin	250	468	1.6e-27	PFAM
Pfam:Reprolysin_2	268	458	5.6e-15	PFAM
Pfam:Reprolysin_3	272	414	2.6e-14	PFAM
TSP1	561	613	3.98e-13	SMART
Pfam:ADAM_spacer1	717	829	2.9e-41	PFAM
TSP1	843	900	2.49e-5	SMART
TSP1	902	960	2.87e-5	SMART
TSP1	963	1018	1.36e-1	SMART
TSP1	1021	1069	2.36e-6	SMART
Pfam:PLAC	1083	1115	3.9e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000223562
AA Change: S290C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably null
Transcript: ENSMUST00000224208
AA Change: S290C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

silent
Transcript: ENSMUST00000224303

Predicted Effect

silent
Transcript: ENSMUST00000224504

Predicted Effect

silent
Transcript: ENSMUST00000224742

Predicted Effect

probably damaging
Transcript: ENSMUST00000224784
AA Change: S290C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

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 motifs) 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. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for induced mutations exhibit cardiovascular defects including double outlet right ventricle, ventricular septal defects and biventricular hypertrophy, and hydrops, thymus hypoplasia short snout and cleft palate. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,225	I143V	probably benign	Het
1700028K03Rik	A	G	5: 107,548,117	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,542,754	Y289H	possibly damaging	Het
Adamts17	T	A	7: 67,125,000	S956T	probably benign	Het
Apaf1	A	T	10: 91,061,819	H267Q	probably benign	Het
Aplp2	G	A	9: 31,211,651	P26L	unknown	Het
Arid1b	C	T	17: 5,313,968	S1019F	probably damaging	Het
Armc3	G	A	2: 19,286,137		probably null	Het
Ass1	T	C	2: 31,492,324	I169T	probably damaging	Het
Ccser1	A	G	6: 61,311,708	D285G	possibly damaging	Het
Cenpf	A	G	1: 189,649,012	V2737A	probably benign	Het
Chrm5	A	G	2: 112,480,568	Y68H	probably damaging	Het
Cops4	A	G	5: 100,533,590	T164A	probably benign	Het
Cox4i1	A	G	8: 120,672,865	S72G	probably benign	Het
Cpox	A	G	16: 58,674,424	T275A	possibly damaging	Het
Cyb5a	T	C	18: 84,873,156	I68T	probably benign	Het
Efna5	T	C	17: 62,651,060	D67G	probably benign	Het
Enpp3	T	C	10: 24,774,002	E842G	probably damaging	Het
Fam208b	C	T	13: 3,585,371	E479K	probably benign	Het
Fam210b	A	G	2: 172,351,503	K79E	probably benign	Het
Gm17359	T	C	3: 79,345,532	I18T	possibly damaging	Het
Gm4799	T	C	10: 82,954,755		noncoding transcript	Het
Gpr146	A	T	5: 139,392,712	R90W	probably damaging	Het
Hal	A	G	10: 93,503,542	I498V	possibly damaging	Het
Hist1h2af	A	G	13: 23,534,281	H124R	probably benign	Het
Hnrnpm	C	T	17: 33,658,412	G365R	probably damaging	Het
Jakmip3	A	G	7: 139,025,488	D407G	probably damaging	Het
Kank1	A	G	19: 25,428,172	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 111,025,210	M233L	probably benign	Het
Klhl5	A	T	5: 65,148,800	Q370L	probably damaging	Het
L3hypdh	C	T	12: 72,077,143		probably null	Het
Las1l	A	G	X: 95,953,302	V130A	probably damaging	Het
Lrp2bp	A	T	8: 46,023,044	Y274F	probably damaging	Het
Morc2b	T	A	17: 33,137,943	K285M	probably damaging	Het
Mpp3	A	T	11: 102,025,390	Y45*	probably null	Het
Muc4	T	A	16: 32,777,649		probably benign	Het
Muc5ac	T	C	7: 141,800,177	C837R	possibly damaging	Het
Mum1	A	G	10: 80,239,978	D466G	probably damaging	Het
Nr2f6	T	A	8: 71,376,166	I155F	probably damaging	Het
Nsg1	A	G	5: 38,144,801	F50L	probably benign	Het
Olfr304	T	A	7: 86,386,043	M206L	probably benign	Het
Ostf1	C	A	19: 18,590,458	G101C	probably damaging	Het
Pam	C	T	1: 97,840,749	R552Q	probably damaging	Het
Pkd1l3	A	G	8: 109,669,292	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,669,285	H484L	probably benign	Het
Rfx5	G	A	3: 94,957,182	R213Q	probably damaging	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Sall2	A	G	14: 52,315,514	S73P	probably damaging	Het
Sec22c	G	A	9: 121,684,779	A264V	probably benign	Het
Sis	A	C	3: 72,888,986		probably benign	Het
Spam1	T	A	6: 24,800,803		probably benign	Het
St13	T	A	15: 81,366,382	I318F	probably damaging	Het
Syne1	T	C	10: 5,424,382	I142V	probably damaging	Het
Trpm6	A	T	19: 18,832,539	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,135,540	W90*	probably null	Het
Txndc12	T	A	4: 108,834,792	C9*	probably null	Het
Ubr7	C	T	12: 102,768,276	Q270*	probably null	Het
Vps33b	A	G	7: 80,285,069	S302G	probably benign	Het
Xylt1	T	A	7: 117,634,770	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,436,691	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,332,928		probably benign	Het
Zscan18	A	T	7: 12,775,296		probably benign	Het

Other mutations in Adamts6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Adamts6	APN	13	104429790	missense	possibly damaging	0.79
IGL00583:Adamts6	APN	13	104297218	nonsense	probably null
IGL01305:Adamts6	APN	13	104390082	missense	probably damaging	1.00
IGL01448:Adamts6	APN	13	104297164	missense	probably damaging	1.00
IGL01517:Adamts6	APN	13	104390192	splice site	probably benign
IGL01678:Adamts6	APN	13	104313688	missense	probably damaging	1.00
IGL01737:Adamts6	APN	13	104390135	missense	probably damaging	0.99
IGL02217:Adamts6	APN	13	104462365	splice site	probably benign
IGL02828:Adamts6	APN	13	104297470	missense	probably damaging	1.00
IGL03067:Adamts6	APN	13	104297275	missense	probably damaging	1.00
IGL03081:Adamts6	APN	13	104444956	utr 3 prime	probably benign
IGL03159:Adamts6	APN	13	104444215	missense	probably damaging	1.00
IGL03411:Adamts6	APN	13	104314334	missense	possibly damaging	0.77
De_vito	UTSW	13	104347392	critical splice donor site	probably null
festinator	UTSW	13	104479535	missense	probably damaging	1.00
ANU22:Adamts6	UTSW	13	104390082	missense	probably damaging	1.00
P0007:Adamts6	UTSW	13	104297491	missense	possibly damaging	0.73
R0362:Adamts6	UTSW	13	104390076	critical splice acceptor site	probably null
R0504:Adamts6	UTSW	13	104426930	splice site	probably benign
R0549:Adamts6	UTSW	13	104297255	missense	possibly damaging	0.60
R0566:Adamts6	UTSW	13	104444927	missense	probably benign	0.00
R0703:Adamts6	UTSW	13	104352847	missense	probably damaging	1.00
R0799:Adamts6	UTSW	13	104314271	missense	probably damaging	1.00
R0838:Adamts6	UTSW	13	104413789	missense	possibly damaging	0.47
R1500:Adamts6	UTSW	13	104312881	missense	probably damaging	1.00
R1502:Adamts6	UTSW	13	104493637	missense	probably damaging	1.00
R1547:Adamts6	UTSW	13	104444875	missense	probably benign	0.26
R1619:Adamts6	UTSW	13	104312777	missense	probably benign	0.14
R1727:Adamts6	UTSW	13	104428964	splice site	probably benign
R1967:Adamts6	UTSW	13	104426951	nonsense	probably null
R2013:Adamts6	UTSW	13	104314304	missense	probably damaging	0.98
R2079:Adamts6	UTSW	13	104462238	missense	probably benign	0.00
R2432:Adamts6	UTSW	13	104426977	missense	probably benign	0.01
R3118:Adamts6	UTSW	13	104314279	missense	possibly damaging	0.91
R4125:Adamts6	UTSW	13	104312904	missense	probably damaging	1.00
R4274:Adamts6	UTSW	13	104314279	missense	possibly damaging	0.91
R4795:Adamts6	UTSW	13	104444128	nonsense	probably null
R4841:Adamts6	UTSW	13	104312787	missense	probably benign	0.00
R4976:Adamts6	UTSW	13	104297490	missense	probably damaging	0.98
R5085:Adamts6	UTSW	13	104307243	missense	probably damaging	0.99
R5234:Adamts6	UTSW	13	104493622	missense	probably damaging	1.00
R5403:Adamts6	UTSW	13	104352815	missense	possibly damaging	0.86
R5753:Adamts6	UTSW	13	104347350	missense	probably damaging	1.00
R6027:Adamts6	UTSW	13	104479535	missense	probably damaging	1.00
R6187:Adamts6	UTSW	13	104297425	missense	probably damaging	1.00
R6229:Adamts6	UTSW	13	104347392	critical splice donor site	probably null
R6243:Adamts6	UTSW	13	104314301	missense	probably damaging	0.99
R6257:Adamts6	UTSW	13	104462282	missense	probably benign
R6743:Adamts6	UTSW	13	104428928	missense	probably damaging	1.00
R6775:Adamts6	UTSW	13	104313652	missense	probably damaging	0.97
R7113:Adamts6	UTSW	13	104312759	missense	probably benign
R7351:Adamts6	UTSW	13	104390112	missense	possibly damaging	0.63
R7520:Adamts6	UTSW	13	104297186	missense	probably benign	0.01
R7866:Adamts6	UTSW	13	104413749	nonsense	probably null
R8274:Adamts6	UTSW	13	104313673	missense	probably benign	0.02
R8348:Adamts6	UTSW	13	104479519	missense	probably damaging	0.99
R8448:Adamts6	UTSW	13	104479519	missense	probably damaging	0.99
R8686:Adamts6	UTSW	13	104313699	missense	probably damaging	1.00
R8691:Adamts6	UTSW	13	104314331	missense	probably benign	0.00
R8962:Adamts6	UTSW	13	104297391	missense	probably damaging	0.99
R8978:Adamts6	UTSW	13	104375739	missense	probably damaging	1.00
R9075:Adamts6	UTSW	13	104462285	missense	probably benign
R9080:Adamts6	UTSW	13	104312919	missense	probably damaging	1.00
R9152:Adamts6	UTSW	13	104476767	missense	probably benign	0.06
R9213:Adamts6	UTSW	13	104444932	missense	probably damaging	1.00
X0065:Adamts6	UTSW	13	104493628	missense	probably damaging	1.00

Posted On

2015-04-16