Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00465:Anks6'

332119

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Anks6

Ensembl Gene

ENSMUSG00000066191

Gene Name

ankyrin repeat and sterile alpha motif domain containing 6

Synonyms

b2b1801.1Clo, LOC269533, 2210417J20Rik, SamCystin, Samd6

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00465

Quality Score

Status

Chromosome

Chromosomal Location

47015669-47057427 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47046054 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 279 (D279V)

Ref Sequence

ENSEMBL: ENSMUSP00000155271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084616] [ENSMUST00000107747] [ENSMUST00000229609]

AlphaFold

Q6GQX6

Predicted Effect

unknown
Transcript: ENSMUST00000084616
AA Change: D279V

SMART Domains

Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191
AA Change: D279V

Domain	Start	End	E-Value	Type
ANK	8	37	2.39e2	SMART
ANK	68	97	5.62e-4	SMART
ANK	101	130	2.05e-6	SMART
ANK	134	163	1.9e-1	SMART
ANK	181	210	8.99e-3	SMART
ANK	215	244	7.83e-3	SMART
ANK	282	312	5.87e2	SMART
ANK	316	345	1.22e-4	SMART
ANK	350	379	3.57e-6	SMART
ANK	383	414	1.23e3	SMART
low complexity region	539	575	N/A	INTRINSIC
low complexity region	619	673	N/A	INTRINSIC
SAM	700	766	2.73e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107747
AA Change: D279V

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191
AA Change: D279V

Domain	Start	End	E-Value	Type
ANK	8	37	2.39e2	SMART
ANK	68	97	5.62e-4	SMART
ANK	101	130	2.05e-6	SMART
ANK	134	163	1.9e-1	SMART
ANK	181	210	8.99e-3	SMART
ANK	215	244	7.83e-3	SMART
ANK	282	312	5.87e2	SMART
ANK	316	345	1.22e-4	SMART
ANK	350	379	3.57e-6	SMART
ANK	383	414	1.23e3	SMART
low complexity region	607	643	N/A	INTRINSIC
low complexity region	687	741	N/A	INTRINSIC
low complexity region	748	768	N/A	INTRINSIC
Blast:SAM	769	796	1e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119580

Predicted Effect

probably damaging
Transcript: ENSMUST00000229609
AA Change: D279V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

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 protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart defects including TGA, DORV and septal defects associated with heterotaxy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	G	7: 140,294,842	Y411C	probably damaging	Het
A1bg	A	T	15: 60,921,253	S2T	probably damaging	Het
Adamts13	T	A	2: 26,973,555	W7R	probably benign	Het
C4bp	A	T	1: 130,639,134	L335Q	probably damaging	Het
Cd109	A	T	9: 78,660,934	K299*	probably null	Het
Cd200r2	A	T	16: 44,909,288	H102L	probably damaging	Het
Col12a1	A	G	9: 79,697,581	Y662H	probably damaging	Het
Cyp2c37	T	C	19: 40,001,997	F380L	probably benign	Het
Deup1	A	G	9: 15,561,370	S549P	probably damaging	Het
Dysf	G	T	6: 84,199,848		probably null	Het
Etaa1	A	T	11: 17,947,825	C166*	probably null	Het
Fam227b	T	C	2: 126,144,325		probably null	Het
Gucy1b2	T	G	14: 62,403,200	Q752P	probably benign	Het
Hal	T	C	10: 93,490,069		probably null	Het
Hao1	C	A	2: 134,554,270	K21N	probably damaging	Het
Itga4	T	C	2: 79,292,050	F536L	probably benign	Het
Lmod3	A	T	6: 97,247,861	I333N	probably damaging	Het
Mgme1	T	A	2: 144,279,516	D297E	probably damaging	Het
Myh2	G	T	11: 67,178,833		probably benign	Het
Myo7a	A	G	7: 98,102,626	M70T	probably damaging	Het
Nav3	T	C	10: 109,852,746	T557A	probably damaging	Het
Nif3l1	C	A	1: 58,455,686	H271Q	possibly damaging	Het
Nostrin	A	G	2: 69,185,554		probably benign	Het
Nxn	C	A	11: 76,274,655		probably benign	Het
Pcdhb22	A	T	18: 37,520,132	D551V	probably damaging	Het
Pde4d	A	G	13: 109,936,687	D339G	possibly damaging	Het
Pkp4	T	A	2: 59,338,755	S408T	probably damaging	Het
Pxmp2	T	C	5: 110,283,716	T54A	probably benign	Het
Rif1	T	A	2: 52,121,007	V2362E	probably damaging	Het
Rps6kl1	A	G	12: 85,139,429	S276P	probably benign	Het
Scaf4	C	A	16: 90,247,281	M601I	unknown	Het
Setd7	T	A	3: 51,550,308	T33S	probably benign	Het
Shroom1	T	A	11: 53,464,094	D280E	probably benign	Het
Slc35f2	G	T	9: 53,798,014		probably null	Het
Slitrk3	T	A	3: 73,051,103	N112I	probably damaging	Het
Spag1	A	G	15: 36,183,821		probably benign	Het
Stx6	C	T	1: 155,201,933		probably benign	Het
Sun1	A	T	5: 139,234,685		probably null	Het
Tbl1xr1	G	A	3: 22,192,268		probably null	Het
Tmc2	T	C	2: 130,261,304	S787P	possibly damaging	Het
Traf3ip3	C	T	1: 193,194,820		probably benign	Het
Trip12	T	G	1: 84,763,861	H559P	probably damaging	Het
Trpm1	G	T	7: 64,247,467	M272I	possibly damaging	Het
Ttc21b	T	C	2: 66,242,775	E189G	probably benign	Het
Tubd1	T	C	11: 86,555,068		probably benign	Het
Vps13a	T	A	19: 16,752,175	T167S	probably damaging	Het
Zbtb3	A	G	19: 8,803,665	D214G	possibly damaging	Het
Zfp658	A	G	7: 43,567,356	D50G	probably benign	Het
Zfp976	T	A	7: 42,613,685	I243L	unknown	Het

Other mutations in Anks6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01886:Anks6	APN	4	47044850	missense	probably damaging	1.00
IGL02903:Anks6	APN	4	47045004	missense	probably damaging	1.00
PIT4131001:Anks6	UTSW	4	47027109	missense	probably damaging	1.00
R0632:Anks6	UTSW	4	47033167	missense	possibly damaging	0.95
R1220:Anks6	UTSW	4	47025767	splice site	probably benign
R1398:Anks6	UTSW	4	47044926	missense	possibly damaging	0.75
R1479:Anks6	UTSW	4	47044874	missense	probably damaging	1.00
R1519:Anks6	UTSW	4	47027152	missense	probably damaging	0.99
R1713:Anks6	UTSW	4	47039726	missense	probably benign	0.00
R1781:Anks6	UTSW	4	47043639	missense	possibly damaging	0.87
R1853:Anks6	UTSW	4	47049387	missense	probably benign	0.00
R2364:Anks6	UTSW	4	47027248	missense	possibly damaging	0.93
R3790:Anks6	UTSW	4	47049212	missense	probably damaging	0.97
R4432:Anks6	UTSW	4	47044905	nonsense	probably null
R4700:Anks6	UTSW	4	47033127	missense	possibly damaging	0.86
R4847:Anks6	UTSW	4	47033266	missense	probably benign
R4876:Anks6	UTSW	4	47030795	missense	probably damaging	1.00
R4877:Anks6	UTSW	4	47030795	missense	probably damaging	1.00
R4878:Anks6	UTSW	4	47030795	missense	probably damaging	1.00
R4879:Anks6	UTSW	4	47030795	missense	probably damaging	1.00
R4961:Anks6	UTSW	4	47030795	missense	probably damaging	1.00
R4962:Anks6	UTSW	4	47030795	missense	probably damaging	1.00
R4968:Anks6	UTSW	4	47030795	missense	probably damaging	1.00
R4970:Anks6	UTSW	4	47030795	missense	probably damaging	1.00
R4971:Anks6	UTSW	4	47030795	missense	probably damaging	1.00
R5092:Anks6	UTSW	4	47030795	missense	probably damaging	1.00
R5113:Anks6	UTSW	4	47030795	missense	probably damaging	1.00
R5389:Anks6	UTSW	4	47038900	splice site	probably benign
R5569:Anks6	UTSW	4	47045007	missense	probably damaging	1.00
R5857:Anks6	UTSW	4	47039736	missense	possibly damaging	0.92
R5977:Anks6	UTSW	4	47035748	missense	probably benign	0.11
R5978:Anks6	UTSW	4	47049252	missense	probably damaging	1.00
R6933:Anks6	UTSW	4	47049164	missense	probably benign	0.25
R7175:Anks6	UTSW	4	47046268	splice site	probably null
R7454:Anks6	UTSW	4	47038919	missense	unknown
R7874:Anks6	UTSW	4	47049275	missense	unknown
R8146:Anks6	UTSW	4	47043605	missense	unknown
R8437:Anks6	UTSW	4	47030705	missense	probably benign	0.00
R9454:Anks6	UTSW	4	47016789	missense	possibly damaging	0.86
R9462:Anks6	UTSW	4	47033142	missense	unknown
R9567:Anks6	UTSW	4	47044880	missense	unknown

Posted On

2015-08-05