Mutagenetix > Incidental Mutation

Incidental Mutation 'R5092:Anks6'

387806

Institutional Source

Beutler Lab

Gene Symbol

Anks6

Ensembl Gene

ENSMUSG00000066191

Gene Name

ankyrin repeat and sterile alpha motif domain containing 6

Synonyms

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

MMRRC Submission

042681-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5092 (G1)

Quality Score

175

Status

Not validated

Chromosome

Chromosomal Location

47015669-47057427 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47030795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 601 (G601S)

Ref Sequence

ENSEMBL: ENSMUSP00000081665 (fasta)

Gene Model

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

AlphaFold

Q6GQX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000084616
AA Change: G601S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191
AA Change: G601S

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: G669S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191
AA Change: G669S

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

probably damaging
Transcript: ENSMUST00000229609
AA Change: G669S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,987,667		probably benign	Het
4932438A13Rik	A	T	3: 37,000,085	M3118L	probably benign	Het
Abca13	T	A	11: 9,258,535	L236Q	probably damaging	Het
Acp2	A	T	2: 91,208,046	T255S	probably benign	Het
Acsf3	A	C	8: 122,817,392	R536S	probably benign	Het
Adgrb1	T	G	15: 74,529,815	V220G	probably benign	Het
Atp5b	A	G	10: 128,083,985	Q74R	probably benign	Het
Brf1	G	A	12: 112,979,732	T166M	probably damaging	Het
Capn9	A	G	8: 124,597,525	K188R	probably damaging	Het
Casp8	A	T	1: 58,844,676	N381Y	possibly damaging	Het
Cbwd1	A	T	19: 24,921,019		probably null	Het
Ccdc88b	A	G	19: 6,848,232	S1218P	probably damaging	Het
Cdc42bpg	C	T	19: 6,313,220	P403S	probably benign	Het
Cdkal1	T	A	13: 29,846,239	Y91F	probably damaging	Het
Cdyl2	T	C	8: 116,623,940	N151D	possibly damaging	Het
Cnot1	T	A	8: 95,752,768	R875S	possibly damaging	Het
Cpd	A	G	11: 76,811,704	S613P	possibly damaging	Het
Cyhr1	A	T	15: 76,646,312	F269L	probably benign	Het
Cyp2e1	G	T	7: 140,774,735	R492L	probably damaging	Het
D5Ertd579e	G	A	5: 36,602,703	T1371M	probably benign	Het
Dcaf8	A	G	1: 172,186,909	T394A	probably benign	Het
Dgka	T	C	10: 128,735,833	E117G	probably damaging	Het
Dock4	G	A	12: 40,844,441	V1867I	probably benign	Het
E2f2	G	T	4: 136,186,937	A333S	probably benign	Het
Eif3l	T	C	15: 79,084,154	S208P	probably benign	Het
Elovl3	A	T	19: 46,134,522	H179L	probably damaging	Het
Eml5	T	C	12: 98,792,616	D1766G	probably damaging	Het
Eno4	A	G	19: 58,945,591	T75A	probably benign	Het
Fam135a	C	T	1: 24,028,807	D94N	probably benign	Het
Fasn	G	T	11: 120,815,036	Q1136K	probably benign	Het
Fcer1a	T	G	1: 173,225,455	N58T	probably damaging	Het
Frmd4b	T	A	6: 97,295,980	D763V	probably damaging	Het
Gm43518	A	G	5: 123,938,234	T115A	probably damaging	Het
Gria4	C	T	9: 4,472,176	E438K	probably benign	Het
Grin2d	T	C	7: 45,854,268	E681G	probably damaging	Het
Gtf3c5	G	T	2: 28,582,873	N35K	possibly damaging	Het
Hydin	A	G	8: 110,582,668	T4031A	probably benign	Het
Igfn1	G	T	1: 135,964,826	N2185K	probably benign	Het
Il17rb	T	C	14: 30,002,376	T174A	probably benign	Het
Kdm3b	T	A	18: 34,813,462	C835S	probably benign	Het
Lgi2	A	T	5: 52,538,087	I510N	probably damaging	Het
Map3k6	A	G	4: 133,251,743	E1164G	probably benign	Het
Mpv17l	T	A	16: 13,940,673	M1K	probably null	Het
Myoc	T	A	1: 162,639,634	L124Q	probably damaging	Het
Nbeal2	C	A	9: 110,626,728		probably null	Het
Nek10	A	G	14: 14,820,851	K13E	possibly damaging	Het
Nt5dc2	A	G	14: 31,139,032	H491R	possibly damaging	Het
Olfr1053	T	C	2: 86,314,362	Q308R	probably benign	Het
Olfr1314	A	C	2: 112,092,107	M198R	possibly damaging	Het
Olfr65	T	A	7: 103,907,199	Y250*	probably null	Het
Pclo	T	A	5: 14,677,308		probably benign	Het
Pgm1	A	T	5: 64,107,749	N371I	possibly damaging	Het
Phf20l1	T	A	15: 66,636,913	S873T	possibly damaging	Het
Plch1	T	C	3: 63,698,710	T1249A	probably benign	Het
Plekhn1	A	T	4: 156,224,765	I228N	possibly damaging	Het
Ppp1r12a	A	T	10: 108,267,402		probably null	Het
Ptchd3	T	C	11: 121,831,146	Y282H	probably damaging	Het
Ptprk	T	A	10: 28,592,773	N1396K	probably damaging	Het
Rap1gap2	T	C	11: 74,438,295	E81G	probably damaging	Het
Rpf2	T	C	10: 40,246,975	M1V	probably null	Het
Rpgrip1l	G	A	8: 91,221,384	Q1224*	probably null	Het
Rreb1	A	G	13: 37,928,278	D286G	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Senp5	A	T	16: 31,989,142	N431K	probably benign	Het
Serpina1f	A	C	12: 103,693,550	S158A	probably damaging	Het
Sertad3	T	A	7: 27,476,720	I193N	probably damaging	Het
Slc22a8	T	A	19: 8,594,164	N86K	probably damaging	Het
Slc6a2	T	C	8: 92,994,719	V492A	possibly damaging	Het
Slf2	T	A	19: 44,952,084	D773E	probably benign	Het
Slmap	A	C	14: 26,463,589	L272R	probably damaging	Het
Smyd5	T	C	6: 85,445,203		probably benign	Het
Snx21	G	T	2: 164,786,746	R103L	probably damaging	Het
Sphk2	T	A	7: 45,712,353		probably null	Het
Stab1	T	C	14: 31,145,855	K1653E	probably benign	Het
Syde1	A	G	10: 78,589,418	V253A	probably benign	Het
Sympk	G	T	7: 19,042,659	R492L	probably benign	Het
Taar7f	T	C	10: 24,049,553	I15T	probably benign	Het
Tas2r137	A	G	6: 40,491,266	D10G	probably benign	Het
Tbcc	A	G	17: 46,891,674	S329G	probably benign	Het
Teddm3	G	A	16: 21,153,150	T223M	probably benign	Het
Tex14	G	T	11: 87,514,842	C860F	probably benign	Het
Thada	A	T	17: 84,444,468	L360Q	probably damaging	Het
Thop1	C	A	10: 81,080,578	H473Q	probably damaging	Het
Tln2	T	C	9: 67,256,028	D1075G	probably benign	Het
Tmem130	G	A	5: 144,743,718	T292I	probably benign	Het
Tmem198b	T	C	10: 128,801,436	N278S	probably benign	Het
Ttc21a	A	T	9: 119,942,665	T177S	probably benign	Het
Ubr2	A	T	17: 46,969,247	C659S	probably damaging	Het
Vmn2r4	T	C	3: 64,390,952	K585R	probably benign	Het
Vmn2r86	A	G	10: 130,446,587	I720T	probably damaging	Het
Wdr35	G	T	12: 8,987,327	W311L	probably damaging	Het
Zfp39	A	T	11: 58,891,202	F245I	possibly damaging	Het
Zmym5	G	A	14: 56,796,779	T325I	probably benign	Het

Other mutations in Anks6

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

Predicted Primers

PCR Primer
(F):5'- AGGAAAGCACTGTACAGGTGTC -3'
(R):5'- AAGACAAGCCAGCTCTTGCC -3'

Sequencing Primer
(F):5'- ACTGTACAGGTGTCACAGGCATC -3'
(R):5'- GCTTCTCACTATGCCACTTGG -3'

Posted On

2016-06-06