Mutagenetix > Incidental Mutation

Incidental Mutation 'R7175:Anks6'

568606

Institutional Source

Beutler Lab

Gene Symbol

Anks6

Ensembl Gene

ENSMUSG00000066191

Gene Name

ankyrin repeat and sterile alpha motif domain containing 6

Synonyms

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

MMRRC Submission

045231-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7175 (G1)

Quality Score

67.0074

Status

Validated

Chromosome

Chromosomal Location

47015669-47057427 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 47046268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155271 (fasta)

Gene Model

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

AlphaFold

Q6GQX6

Predicted Effect

probably null
Transcript: ENSMUST00000084616

SMART Domains

Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191

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

SMART Domains

Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191

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 null
Transcript: ENSMUST00000229609

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,831,611 (GRCm39)	T1247I	probably benign	Het
Afdn	T	C	17: 14,108,869 (GRCm39)	L1479P	probably damaging	Het
Alox12e	T	C	11: 70,210,534 (GRCm39)	R363G	probably damaging	Het
Ank2	A	T	3: 126,740,590 (GRCm39)	S1765T	unknown	Het
Apob	A	C	12: 8,057,034 (GRCm39)	I1839L	probably benign	Het
Bdp1	C	A	13: 100,186,478 (GRCm39)	R1658I	probably damaging	Het
Ccs	T	A	19: 4,883,390 (GRCm39)	D136V	probably damaging	Het
Cd200	T	C	16: 45,220,578 (GRCm39)		probably null	Het
Cirbp	T	C	10: 80,006,297 (GRCm39)	S130P	probably benign	Het
Cpb1	A	G	3: 20,317,927 (GRCm39)	I199T	probably benign	Het
Csn3	C	T	5: 88,077,586 (GRCm39)	R31C	probably damaging	Het
Dcaf1	A	T	9: 106,735,775 (GRCm39)	I908F	probably benign	Het
Dhcr7	C	T	7: 143,399,227 (GRCm39)	T199I	probably damaging	Het
Dnah9	T	A	11: 66,024,463 (GRCm39)	Q277L	probably benign	Het
Echdc2	C	A	4: 108,031,366 (GRCm39)	P237T	probably damaging	Het
Efcab3	T	C	11: 104,838,237 (GRCm39)	V3625A	unknown	Het
Eif4g3	A	G	4: 137,853,526 (GRCm39)	N364S	probably damaging	Het
Eml6	T	A	11: 29,734,231 (GRCm39)	I1170L	probably benign	Het
Epha3	C	T	16: 63,403,863 (GRCm39)	R746Q	probably damaging	Het
Exosc5	G	A	7: 25,363,794 (GRCm39)	C102Y	probably damaging	Het
Fam91a1	A	T	15: 58,302,527 (GRCm39)	Y289F	probably benign	Het
Fbxo38	A	C	18: 62,648,544 (GRCm39)	F665V	probably benign	Het
Fcrl5	T	C	3: 87,353,645 (GRCm39)	V330A	probably benign	Het
Fer	T	A	17: 64,231,090 (GRCm39)	D280E	probably benign	Het
Gpr158	A	G	2: 21,373,113 (GRCm39)	H16R	probably benign	Het
Gzmg	C	T	14: 56,396,979 (GRCm39)	M1I	probably null	Het
Hectd4	C	T	5: 121,411,692 (GRCm39)	A456V	possibly damaging	Het
Hk2	T	A	6: 82,711,830 (GRCm39)	Q613L	probably benign	Het
Inhca	A	G	9: 103,128,988 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,938 (GRCm39)	F1121L	unknown	Het
Lztr1	G	T	16: 17,340,895 (GRCm39)	C557F	possibly damaging	Het
Mdn1	A	G	4: 32,694,634 (GRCm39)	Y1119C	probably damaging	Het
Nfkb1	A	T	3: 135,319,751 (GRCm39)	L248Q	probably damaging	Het
Or1a1	T	A	11: 74,087,004 (GRCm39)	L225*	probably null	Het
Or1p1b	T	C	11: 74,130,803 (GRCm39)	F138L	probably benign	Het
Or2g7	T	A	17: 38,378,370 (GRCm39)	S103T	probably damaging	Het
Or52e19	T	C	7: 102,959,054 (GRCm39)	V42A	probably benign	Het
Otulinl	A	C	15: 27,658,374 (GRCm39)	D165E	probably damaging	Het
Pate1	T	G	9: 35,596,408 (GRCm39)	D119A	probably damaging	Het
Pcdhgc4	T	C	18: 37,949,424 (GRCm39)	V280A	possibly damaging	Het
Pik3ap1	T	C	19: 41,275,929 (GRCm39)	D717G	probably damaging	Het
Prdm13	A	T	4: 21,679,473 (GRCm39)	L339Q	unknown	Het
Rasgrf1	T	A	9: 89,862,802 (GRCm39)	N519K	probably benign	Het
Rergl	A	G	6: 139,473,533 (GRCm39)	V39A	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sema4b	T	A	7: 79,848,402 (GRCm39)	M1K	probably null	Het
Slc20a1	T	G	2: 129,052,662 (GRCm39)	L648R	probably damaging	Het
Spata31h1	T	A	10: 82,122,583 (GRCm39)	S3476C	probably damaging	Het
Speg	A	G	1: 75,399,134 (GRCm39)	T2194A	probably benign	Het
Spns1	T	C	7: 125,972,961 (GRCm39)	D215G	probably damaging	Het
Tle4	A	T	19: 14,429,071 (GRCm39)	V717E	probably damaging	Het
Trim50	T	A	5: 135,382,151 (GRCm39)	M1K	probably null	Het
Trpa1	A	G	1: 14,963,431 (GRCm39)	V597A	possibly damaging	Het
Usp13	C	T	3: 32,971,757 (GRCm39)	Q746*	probably null	Het
Vmn1r35	A	T	6: 66,655,906 (GRCm39)	W255R	probably benign	Het
Vps35	A	T	8: 85,990,189 (GRCm39)		probably null	Het
Vps54	T	C	11: 21,265,028 (GRCm39)		probably null	Het
Zfp318	T	A	17: 46,697,774 (GRCm39)	L210Q	probably damaging	Het
Zfp319	C	A	8: 96,055,410 (GRCm39)	K264N	probably damaging	Het
Zfp62	C	T	11: 49,107,580 (GRCm39)	S557L	probably damaging	Het
Zgrf1	T	C	3: 127,357,239 (GRCm39)	S822P	probably damaging	Het
Zxdc	A	G	6: 90,346,645 (GRCm39)	D2G	possibly damaging	Het
Zzef1	T	C	11: 72,742,727 (GRCm39)	I769T	possibly damaging	Het

Other mutations in Anks6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Anks6	APN	4	47,046,054 (GRCm39)	missense	probably damaging	0.98
IGL01886:Anks6	APN	4	47,044,850 (GRCm39)	missense	probably damaging	1.00
IGL02903:Anks6	APN	4	47,045,004 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Anks6	UTSW	4	47,027,109 (GRCm39)	missense	probably damaging	1.00
R0632:Anks6	UTSW	4	47,033,167 (GRCm39)	missense	possibly damaging	0.95
R1220:Anks6	UTSW	4	47,025,767 (GRCm39)	splice site	probably benign
R1398:Anks6	UTSW	4	47,044,926 (GRCm39)	missense	possibly damaging	0.75
R1479:Anks6	UTSW	4	47,044,874 (GRCm39)	missense	probably damaging	1.00
R1519:Anks6	UTSW	4	47,027,152 (GRCm39)	missense	probably damaging	0.99
R1713:Anks6	UTSW	4	47,039,726 (GRCm39)	missense	probably benign	0.00
R1781:Anks6	UTSW	4	47,043,639 (GRCm39)	missense	possibly damaging	0.87
R1853:Anks6	UTSW	4	47,049,387 (GRCm39)	missense	probably benign	0.00
R2364:Anks6	UTSW	4	47,027,248 (GRCm39)	missense	possibly damaging	0.93
R3790:Anks6	UTSW	4	47,049,212 (GRCm39)	missense	probably damaging	0.97
R4432:Anks6	UTSW	4	47,044,905 (GRCm39)	nonsense	probably null
R4700:Anks6	UTSW	4	47,033,127 (GRCm39)	missense	possibly damaging	0.86
R4847:Anks6	UTSW	4	47,033,266 (GRCm39)	missense	probably benign
R4876:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4877:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4878:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4879:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4961:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4962:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4968:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4970:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4971:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R5092:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R5113:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R5389:Anks6	UTSW	4	47,038,900 (GRCm39)	splice site	probably benign
R5569:Anks6	UTSW	4	47,045,007 (GRCm39)	missense	probably damaging	1.00
R5857:Anks6	UTSW	4	47,039,736 (GRCm39)	missense	possibly damaging	0.92
R5977:Anks6	UTSW	4	47,035,748 (GRCm39)	missense	probably benign	0.11
R5978:Anks6	UTSW	4	47,049,252 (GRCm39)	missense	probably damaging	1.00
R6933:Anks6	UTSW	4	47,049,164 (GRCm39)	missense	probably benign	0.25
R7454:Anks6	UTSW	4	47,038,919 (GRCm39)	missense	unknown
R7874:Anks6	UTSW	4	47,049,275 (GRCm39)	missense	unknown
R8146:Anks6	UTSW	4	47,043,605 (GRCm39)	missense	unknown
R8437:Anks6	UTSW	4	47,030,705 (GRCm39)	missense	probably benign	0.00
R9454:Anks6	UTSW	4	47,016,789 (GRCm39)	missense	possibly damaging	0.86
R9462:Anks6	UTSW	4	47,033,142 (GRCm39)	missense	unknown
R9567:Anks6	UTSW	4	47,044,880 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CACTTACCCATCTTCAGGGC -3'
(R):5'- AATTGTCCACAGACTGGCGG -3'

Sequencing Primer
(F):5'- GGCATAGAAAATATCTGGTCGCCTC -3'
(R):5'- GCTCTCTGACCTTGAACT -3'

Posted On

2019-08-29