Mutagenetix > Incidental Mutation

Incidental Mutation 'R9454:Anks6'

714451

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47015669-47057427 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47016789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 809 (E809G)

Ref Sequence

ENSEMBL: ENSMUSP00000081665 (fasta)

Gene Model

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

AlphaFold

Q6GQX6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084616
AA Change: E809G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191
AA Change: E809G

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 damaging
Transcript: ENSMUST00000229609
AA Change: E877G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	T	18: 61,952,067 (GRCm39)	H431Q	possibly damaging	Het
Adam25	A	T	8: 41,207,486 (GRCm39)	I251F	probably damaging	Het
Ankrd31	A	T	13: 96,916,842 (GRCm39)	T119S	probably damaging	Het
Ankrd31	T	C	13: 96,916,846 (GRCm39)	V120A	possibly damaging	Het
Arhgap21	A	T	2: 20,870,153 (GRCm39)	S928T	probably damaging	Het
Arhgef10l	G	T	4: 140,308,236 (GRCm39)	S39*	probably null	Het
Aspm	G	A	1: 139,408,732 (GRCm39)	E2540K	probably benign	Het
Atp10a	T	C	7: 58,308,339 (GRCm39)	I46T	probably benign	Het
Atp13a5	C	A	16: 29,133,338 (GRCm39)	V483L	possibly damaging	Het
BC028528	T	C	3: 95,797,082 (GRCm39)	D29G	possibly damaging	Het
Ccdc187	T	A	2: 26,166,114 (GRCm39)	T772S	possibly damaging	Het
Ccnh	G	A	13: 85,350,521 (GRCm39)	A199T	probably benign	Het
Cfap65	A	T	1: 74,944,210 (GRCm39)	Y1504N	probably damaging	Het
Ckap2	C	A	8: 22,665,899 (GRCm39)	E383*	probably null	Het
Clec4n	T	C	6: 123,212,532 (GRCm39)	V116A	possibly damaging	Het
Cmc2	G	T	8: 117,616,550 (GRCm39)	D58E	unknown	Het
Cntn6	A	G	6: 104,781,308 (GRCm39)	K465E	possibly damaging	Het
Col6a6	G	A	9: 105,661,059 (GRCm39)	A350V	probably damaging	Het
Cps1	A	G	1: 67,219,311 (GRCm39)	I884V	probably damaging	Het
E2f7	C	T	10: 110,620,542 (GRCm39)	A853V	probably benign	Het
E330034G19Rik	A	T	14: 24,346,860 (GRCm39)	Q114L	unknown	Het
Egfr	G	T	11: 16,837,155 (GRCm39)	G632V	probably damaging	Het
Fam98b	T	C	2: 117,080,250 (GRCm39)	M1T	probably null	Het
Fcgr2b	T	A	1: 170,788,657 (GRCm39)	I317F	probably damaging	Het
Galntl6	T	C	8: 58,411,435 (GRCm39)	D265G	probably damaging	Het
Gm4922	A	G	10: 18,660,329 (GRCm39)	L131P	probably damaging	Het
H1f7	T	C	15: 98,154,823 (GRCm39)	I109V	probably benign	Het
H2-Q1	A	T	17: 35,540,349 (GRCm39)	I145F	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Ica1	A	T	6: 8,667,288 (GRCm39)	S293T	probably benign	Het
Ift70a2	T	A	2: 75,806,812 (GRCm39)	I567F	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Magi2	G	T	5: 20,671,176 (GRCm39)	V507F	probably damaging	Het
Malrd1	T	C	2: 15,757,660 (GRCm39)	I978T	unknown	Het
Malrd1	G	A	2: 15,802,537 (GRCm39)	W1083*	probably null	Het
Mgarp	T	C	3: 51,303,902 (GRCm39)	T10A	probably damaging	Het
Mtnr1a	A	G	8: 45,538,612 (GRCm39)	I17V		Het
Muc5ac	C	T	7: 141,362,431 (GRCm39)	T1914I	unknown	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,835,864 (GRCm39)	T73A	probably benign	Het
Or4b1	A	C	2: 89,979,820 (GRCm39)	C177G	probably damaging	Het
Or8k21	A	T	2: 86,145,178 (GRCm39)	Y151N	probably damaging	Het
Pclo	T	A	5: 14,762,452 (GRCm39)	S357T	probably benign	Het
Pkdrej	T	A	15: 85,702,420 (GRCm39)	N1172I	probably benign	Het
Psmb9	G	A	17: 34,402,078 (GRCm39)	R173C	probably benign	Het
Ralgapb	T	A	2: 158,315,072 (GRCm39)	H1146Q	probably benign	Het
Raph1	T	A	1: 60,528,753 (GRCm39)	Q836L	unknown	Het
Rcc1	A	G	4: 132,062,074 (GRCm39)	S280P	probably damaging	Het
Recql	T	C	6: 142,320,617 (GRCm39)	M144V	possibly damaging	Het
Rela	T	C	19: 5,695,368 (GRCm39)	I298T	probably damaging	Het
Rfc1	T	A	5: 65,431,774 (GRCm39)	I792F		Het
Rnf31	A	G	14: 55,833,609 (GRCm39)	E539G		Het
Rrp9	T	C	9: 106,360,840 (GRCm39)	S274P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Scmh1	A	G	4: 120,372,276 (GRCm39)	I360V	probably benign	Het
Sh3yl1	T	C	12: 30,990,420 (GRCm39)		probably null	Het
Shisa9	T	C	16: 11,802,523 (GRCm39)	S27P	probably benign	Het
Slc17a4	A	G	13: 24,085,910 (GRCm39)	V359A	probably benign	Het
Slfn5	C	A	11: 82,850,885 (GRCm39)	A394E	probably benign	Het
Sun3	A	G	11: 8,988,281 (GRCm39)	F14L	probably benign	Het
Surf1	A	T	2: 26,804,808 (GRCm39)	D148E	possibly damaging	Het
Syne2	A	T	12: 76,141,844 (GRCm39)	K1388*	probably null	Het
Syne2	A	G	12: 76,067,275 (GRCm39)	K4325E	probably damaging	Het
Tacr1	A	G	6: 82,531,853 (GRCm39)	M250V	probably damaging	Het
Tenm2	T	C	11: 36,112,286 (GRCm39)	T420A	probably benign	Het
Tm7sf3	C	A	6: 146,520,041 (GRCm39)	A282S	probably benign	Het
Tmf1	T	C	6: 97,155,866 (GRCm39)	E40G	probably benign	Het
Tnfrsf12a	A	G	17: 23,895,491 (GRCm39)		probably null	Het
Unc80	C	A	1: 66,734,749 (GRCm39)	H3325Q	possibly damaging	Het
Vamp9	C	T	5: 100,070,952 (GRCm39)	P76S	probably damaging	Het
Zfp142	A	G	1: 74,609,016 (GRCm39)	L1593S	probably damaging	Het
Zfp869	T	A	8: 70,159,241 (GRCm39)	Y444F	probably benign	Het
Zscan10	G	A	17: 23,826,619 (GRCm39)		probably null	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
R7175:Anks6	UTSW	4	47,046,268 (GRCm39)	splice site	probably null
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
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'- TCAGCTCTGATGATGCGTC -3'
(R):5'- TCGCTAAGTTATGCACGCCC -3'

Sequencing Primer
(F):5'- TCTGATGATGCGTCGCCCG -3'
(R):5'- TCTCGGAGTTTCCCAGCAACAG -3'

Posted On

2022-06-15