Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01886:Anks6'

179143

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 #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

47015669-47057427 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 47044850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 352 (W352L)

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: W352L

SMART Domains

Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191
AA Change: W352L

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 damaging
Transcript: ENSMUST00000107747
AA Change: W352L

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

SMART Domains

Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191
AA Change: W352L

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

noncoding transcript
Transcript: ENSMUST00000154664

Predicted Effect

probably damaging
Transcript: ENSMUST00000229609
AA Change: W352L

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 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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,659,158	V136M	probably benign	Het
Ankrd34c	A	T	9: 89,730,265	L8M	possibly damaging	Het
Arhgap12	A	T	18: 6,027,613	N768K	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Clec7a	A	T	6: 129,463,177		probably benign	Het
Cyp3a13	G	A	5: 137,898,820	P411S	probably damaging	Het
Elavl2	A	G	4: 91,264,093	V129A	probably damaging	Het
Ercc6	T	A	14: 32,569,580	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262	K8I	probably damaging	Het
Esr1	T	A	10: 4,856,861	I259K	probably damaging	Het
Filip1l	A	G	16: 57,571,250	I734V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814	I891F	probably damaging	Het
Kat7	T	C	11: 95,306,133	T27A	probably benign	Het
Kdm1a	A	G	4: 136,561,016		probably null	Het
Kifc5b	T	C	17: 26,932,117	V663A	probably damaging	Het
Lama1	T	G	17: 67,807,797	S2314A	probably benign	Het
Lrrc69	C	T	4: 14,703,984	V279I	probably benign	Het
Mast3	A	T	8: 70,782,139	L774Q	possibly damaging	Het
Med27	C	A	2: 29,413,482	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,169,090		probably benign	Het
Myoz1	T	C	14: 20,655,309	K14E	probably damaging	Het
Neb	T	C	2: 52,183,845		probably benign	Het
Nlrp1a	T	C	11: 71,123,501	T308A	probably benign	Het
Olfr364-ps1	A	G	2: 37,146,509	Y99C	probably damaging	Het
Olfr926	G	T	9: 38,877,548	C124F	probably damaging	Het
Orc1	T	A	4: 108,603,957		probably null	Het
Pnkp	G	A	7: 44,862,207	A76T	probably damaging	Het
Polr3h	T	C	15: 81,917,390	E95G	probably damaging	Het
Prpf40b	T	A	15: 99,304,447	M62K	unknown	Het
Prpf8	C	A	11: 75,495,744	Q1075K	probably benign	Het
Ptprg	A	G	14: 12,179,280	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,342,042	N778K	probably damaging	Het
Riok3	T	A	18: 12,139,385	N204K	probably damaging	Het
Shank3	A	G	15: 89,531,663	K650E	probably damaging	Het
Sim1	T	A	10: 50,984,315	S758T	probably damaging	Het
Slu7	T	G	11: 43,439,260	N171K	probably damaging	Het
Sult6b2	A	G	6: 142,790,126		probably null	Het
Taf6l	C	T	19: 8,778,086		probably null	Het
Ubtfl1	G	A	9: 18,409,721	V182M	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Anks6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Anks6	APN	4	47046054	missense	probably damaging	0.98
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

2014-05-07