Mutagenetix > Incidental Mutation

Incidental Mutation 'R4700:Anks6'

355895

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

041948-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47015669-47057427 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47033127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 578 (H578L)

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: H578L

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191
AA Change: H578L

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: H646L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191
AA Change: H646L

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 benign
Transcript: ENSMUST00000229609
AA Change: H646L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (127/131)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	A	G	13: 31,558,812 (GRCm38)		probably benign	Het
Abca13	A	G	11: 9,292,306 (GRCm38)	T1390A	possibly damaging	Het
Abca14	T	A	7: 120,312,705 (GRCm38)		probably null	Het
Abca8a	A	C	11: 110,070,482 (GRCm38)	V538G	probably damaging	Het
Acy1	C	T	9: 106,433,583 (GRCm38)	G329R	probably benign	Het
Adamts17	T	C	7: 67,041,888 (GRCm38)	C607R	probably damaging	Het
Adamts20	A	T	15: 94,394,622 (GRCm38)	C202*	probably null	Het
Adcy5	A	G	16: 35,279,216 (GRCm38)	N712S	possibly damaging	Het
Ahnak	A	G	19: 9,004,681 (GRCm38)	K1110E	probably benign	Het
Appl1	C	A	14: 26,925,971 (GRCm38)	L626F	probably benign	Het
Arl1	A	G	10: 88,730,637 (GRCm38)		probably benign	Het
Atf4	T	A	15: 80,257,417 (GRCm38)	I336K	probably damaging	Het
Atp7b	A	T	8: 22,000,121 (GRCm38)	S1044T	probably benign	Het
Carm1	A	G	9: 21,587,184 (GRCm38)	N466S	probably benign	Het
Cbl	A	G	9: 44,173,380 (GRCm38)	S153P	probably damaging	Het
Ccdc159	A	G	9: 21,927,731 (GRCm38)		probably null	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500 (GRCm38)		probably benign	Het
Cdc7	T	C	5: 106,973,841 (GRCm38)	F207L	probably benign	Het
Celsr2	T	C	3: 108,397,231 (GRCm38)	R2271G	probably benign	Het
Cep162	T	C	9: 87,206,862 (GRCm38)	Q989R	probably damaging	Het
Cep89	A	G	7: 35,438,437 (GRCm38)	T749A	probably benign	Het
Clcn5	T	C	X: 7,166,352 (GRCm38)		probably null	Het
Clu	A	T	14: 65,979,864 (GRCm38)	Y382F	probably benign	Het
Cnih4	A	G	1: 181,166,243 (GRCm38)		probably benign	Het
Crb1	A	G	1: 139,198,771 (GRCm38)	L1340P	probably damaging	Het
Ddx4	T	C	13: 112,613,735 (GRCm38)	T421A	probably damaging	Het
Dennd5a	T	C	7: 109,921,198 (GRCm38)	E484G	probably benign	Het
Dsg4	G	T	18: 20,456,908 (GRCm38)	V372L	possibly damaging	Het
Dyrk2	T	C	10: 118,868,286 (GRCm38)	D21G	probably benign	Het
E2f1	C	G	2: 154,564,022 (GRCm38)	G144R	probably damaging	Het
Epb41l4a	A	T	18: 33,802,507 (GRCm38)		probably null	Het
F10	G	T	8: 13,039,621 (GRCm38)	V67F	possibly damaging	Het
Fat3	A	G	9: 16,031,173 (GRCm38)	I1301T	probably damaging	Het
Filip1l	A	G	16: 57,570,695 (GRCm38)	T549A	probably benign	Het
Flt4	C	A	11: 49,626,444 (GRCm38)		probably benign	Het
Fndc1	G	A	17: 7,771,480 (GRCm38)	T1128I	unknown	Het
Fos	T	C	12: 85,476,162 (GRCm38)	S283P	probably benign	Het
Fryl	T	C	5: 73,065,538 (GRCm38)	Y1900C	possibly damaging	Het
Fsip2	C	A	2: 82,987,029 (GRCm38)	Q4369K	probably benign	Het
Gad2	A	T	2: 22,673,970 (GRCm38)	H395L	probably damaging	Het
Grm2	T	A	9: 106,653,931 (GRCm38)	I120F	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524 (GRCm38)		probably null	Het
Igsf10	A	T	3: 59,320,330 (GRCm38)	I1974N	probably damaging	Het
Il23r	T	C	6: 67,473,850 (GRCm38)	N215S	probably damaging	Het
Jph1	T	A	1: 17,091,704 (GRCm38)	M245L	possibly damaging	Het
Loxl4	G	A	19: 42,607,613 (GRCm38)	H147Y	probably benign	Het
Lsg1	A	G	16: 30,565,449 (GRCm38)	I521T	probably damaging	Het
Ltc4s	C	T	11: 50,237,081 (GRCm38)	G83R	probably damaging	Het
Map2	A	G	1: 66,410,637 (GRCm38)	E173G	probably damaging	Het
Med29	T	A	7: 28,386,927 (GRCm38)	D152V	possibly damaging	Het
Megf8	A	G	7: 25,363,515 (GRCm38)	D2432G	probably damaging	Het
Mrpl38	G	A	11: 116,135,152 (GRCm38)		probably benign	Het
Myh7	A	G	14: 54,988,321 (GRCm38)	I521T	possibly damaging	Het
Mylk	G	T	16: 34,922,435 (GRCm38)	V1106L	probably benign	Het
Myo15b	A	T	11: 115,861,935 (GRCm38)	D753V	possibly damaging	Het
Myo1g	T	C	11: 6,516,785 (GRCm38)		probably null	Het
Myrfl	A	G	10: 116,777,342 (GRCm38)		probably null	Het
Naip5	A	G	13: 100,223,414 (GRCm38)	V438A	possibly damaging	Het
Nav3	A	G	10: 109,764,935 (GRCm38)	V1277A	probably benign	Het
Nek10	T	A	14: 14,842,841 (GRCm38)	V182E	possibly damaging	Het
Ngly1	T	C	14: 16,281,809 (GRCm38)	V355A	probably benign	Het
Nol6	T	C	4: 41,118,944 (GRCm38)	E683G	possibly damaging	Het
Obsl1	A	T	1: 75,503,441 (GRCm38)	V487E	probably damaging	Het
Oc90	T	A	15: 65,881,505 (GRCm38)	R322W	possibly damaging	Het
Or1q1	C	A	2: 36,997,503 (GRCm38)	A231D	probably benign	Het
Or4f60	A	G	2: 112,071,752 (GRCm38)	V277A	possibly damaging	Het
Or52e4	A	T	7: 105,056,276 (GRCm38)	H10L	possibly damaging	Het
Or8b4	A	G	9: 37,918,921 (GRCm38)	E93G	possibly damaging	Het
Osbp2	T	C	11: 3,712,160 (GRCm38)	H231R	probably damaging	Het
Pate6	A	T	9: 35,789,725 (GRCm38)	C22S	probably damaging	Het
Pdzph1	T	C	17: 58,974,546 (GRCm38)	H247R	probably damaging	Het
Pidd1	T	C	7: 141,442,249 (GRCm38)	N209S	probably damaging	Het
Pknox1	C	T	17: 31,603,312 (GRCm38)	A351V	probably damaging	Het
Plxnd1	C	A	6: 115,958,615 (GRCm38)	V1737F	probably damaging	Het
Prkdc	A	T	16: 15,702,112 (GRCm38)	K1138M	probably damaging	Het
Rad54l2	T	C	9: 106,754,025 (GRCm38)	D21G	possibly damaging	Het
Recql4	C	T	15: 76,708,585 (GRCm38)	C302Y	probably damaging	Het
Scgb2b6	T	C	7: 31,619,483 (GRCm38)		noncoding transcript	Het
Sdc1	A	G	12: 8,790,541 (GRCm38)	E106G	possibly damaging	Het
Slc10a5	C	A	3: 10,335,299 (GRCm38)	Q100H	probably damaging	Het
Slc10a5	T	G	3: 10,335,300 (GRCm38)	Q100P	probably damaging	Het
Slc5a9	A	T	4: 111,890,937 (GRCm38)	L226Q	possibly damaging	Het
Slfn1	T	C	11: 83,121,649 (GRCm38)	V197A	probably benign	Het
Spire1	T	C	18: 67,512,865 (GRCm38)	M244V	probably benign	Het
St3gal3	C	T	4: 117,960,035 (GRCm38)	V141I	probably benign	Het
St6galnac4	G	T	2: 32,587,160 (GRCm38)		probably benign	Het
Svep1	T	C	4: 58,097,323 (GRCm38)	K1407E	possibly damaging	Het
Tbc1d32	A	G	10: 56,224,649 (GRCm38)	C78R	probably damaging	Het
Tcstv5	T	C	13: 119,949,842 (GRCm38)	Y76C	probably benign	Het
Tln2	A	G	9: 67,346,527 (GRCm38)	V754A	probably benign	Het
Tmeff1	A	T	4: 48,636,869 (GRCm38)	Y189F	possibly damaging	Het
Tmem131l	C	T	3: 83,899,212 (GRCm38)	A1433T	probably benign	Het
Tnfrsf8	T	C	4: 145,303,122 (GRCm38)	Y36C	probably damaging	Het
Trp53i11	G	T	2: 93,199,900 (GRCm38)	R184L	probably damaging	Het
Trpv1	A	T	11: 73,251,284 (GRCm38)	M214L	possibly damaging	Het
Tsnax	T	A	8: 125,028,794 (GRCm38)	S132T	probably benign	Het
Ttc28	T	C	5: 111,277,043 (GRCm38)	L1547P	probably damaging	Het
Ttc3	A	G	16: 94,439,241 (GRCm38)		probably null	Het
Tubal3	T	A	13: 3,933,514 (GRCm38)	D431E	probably damaging	Het
Ugt2b36	A	T	5: 87,092,442 (GRCm38)		probably null	Het
Vmn1r23	A	T	6: 57,926,205 (GRCm38)	I196K	probably benign	Het
Vmn1r55	A	C	7: 5,146,587 (GRCm38)	L279R	probably damaging	Het
Vmn1r55	G	T	7: 5,146,588 (GRCm38)	L279M	probably damaging	Het
Vmn2r89	G	A	14: 51,457,485 (GRCm38)	G474E	probably damaging	Het
Vps26b	T	C	9: 27,015,215 (GRCm38)	K163E	probably damaging	Het
Zfp142	A	G	1: 74,570,272 (GRCm38)	F1352L	probably damaging	Het
Zfp422	C	T	6: 116,626,883 (GRCm38)	E52K	possibly damaging	Het
Zfp423	T	A	8: 87,781,710 (GRCm38)		probably null	Het
Zfp493	T	C	13: 67,786,617 (GRCm38)	F230L	probably damaging	Het
Zfp760	T	C	17: 21,722,407 (GRCm38)	C188R	probably benign	Het
Zfyve28	G	T	5: 34,217,845 (GRCm38)	T275K	probably damaging	Het
Znhit3	T	C	11: 84,916,329 (GRCm38)	N5D	probably benign	Het

Other mutations in Anks6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Anks6	APN	4	47,046,054 (GRCm38)	missense	probably damaging	0.98
IGL01886:Anks6	APN	4	47,044,850 (GRCm38)	missense	probably damaging	1.00
IGL02903:Anks6	APN	4	47,045,004 (GRCm38)	missense	probably damaging	1.00
PIT4131001:Anks6	UTSW	4	47,027,109 (GRCm38)	missense	probably damaging	1.00
R0632:Anks6	UTSW	4	47,033,167 (GRCm38)	missense	possibly damaging	0.95
R1220:Anks6	UTSW	4	47,025,767 (GRCm38)	splice site	probably benign
R1398:Anks6	UTSW	4	47,044,926 (GRCm38)	missense	possibly damaging	0.75
R1479:Anks6	UTSW	4	47,044,874 (GRCm38)	missense	probably damaging	1.00
R1519:Anks6	UTSW	4	47,027,152 (GRCm38)	missense	probably damaging	0.99
R1713:Anks6	UTSW	4	47,039,726 (GRCm38)	missense	probably benign	0.00
R1781:Anks6	UTSW	4	47,043,639 (GRCm38)	missense	possibly damaging	0.87
R1853:Anks6	UTSW	4	47,049,387 (GRCm38)	missense	probably benign	0.00
R2364:Anks6	UTSW	4	47,027,248 (GRCm38)	missense	possibly damaging	0.93
R3790:Anks6	UTSW	4	47,049,212 (GRCm38)	missense	probably damaging	0.97
R4432:Anks6	UTSW	4	47,044,905 (GRCm38)	nonsense	probably null
R4847:Anks6	UTSW	4	47,033,266 (GRCm38)	missense	probably benign
R4876:Anks6	UTSW	4	47,030,795 (GRCm38)	missense	probably damaging	1.00
R4877:Anks6	UTSW	4	47,030,795 (GRCm38)	missense	probably damaging	1.00
R4878:Anks6	UTSW	4	47,030,795 (GRCm38)	missense	probably damaging	1.00
R4879:Anks6	UTSW	4	47,030,795 (GRCm38)	missense	probably damaging	1.00
R4961:Anks6	UTSW	4	47,030,795 (GRCm38)	missense	probably damaging	1.00
R4962:Anks6	UTSW	4	47,030,795 (GRCm38)	missense	probably damaging	1.00
R4968:Anks6	UTSW	4	47,030,795 (GRCm38)	missense	probably damaging	1.00
R4970:Anks6	UTSW	4	47,030,795 (GRCm38)	missense	probably damaging	1.00
R4971:Anks6	UTSW	4	47,030,795 (GRCm38)	missense	probably damaging	1.00
R5092:Anks6	UTSW	4	47,030,795 (GRCm38)	missense	probably damaging	1.00
R5113:Anks6	UTSW	4	47,030,795 (GRCm38)	missense	probably damaging	1.00
R5389:Anks6	UTSW	4	47,038,900 (GRCm38)	splice site	probably benign
R5569:Anks6	UTSW	4	47,045,007 (GRCm38)	missense	probably damaging	1.00
R5857:Anks6	UTSW	4	47,039,736 (GRCm38)	missense	possibly damaging	0.92
R5977:Anks6	UTSW	4	47,035,748 (GRCm38)	missense	probably benign	0.11
R5978:Anks6	UTSW	4	47,049,252 (GRCm38)	missense	probably damaging	1.00
R6933:Anks6	UTSW	4	47,049,164 (GRCm38)	missense	probably benign	0.25
R7175:Anks6	UTSW	4	47,046,268 (GRCm38)	splice site	probably null
R7454:Anks6	UTSW	4	47,038,919 (GRCm38)	missense	unknown
R7874:Anks6	UTSW	4	47,049,275 (GRCm38)	missense	unknown
R8146:Anks6	UTSW	4	47,043,605 (GRCm38)	missense	unknown
R8437:Anks6	UTSW	4	47,030,705 (GRCm38)	missense	probably benign	0.00
R9454:Anks6	UTSW	4	47,016,789 (GRCm38)	missense	possibly damaging	0.86
R9462:Anks6	UTSW	4	47,033,142 (GRCm38)	missense	unknown
R9567:Anks6	UTSW	4	47,044,880 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCACTATGGACCTGACCTCTTC -3'
(R):5'- AAGGCCCTGTCCTAACTACC -3'

Sequencing Primer
(F):5'- AGCTTCACCTCGGGAAAATG -3'
(R):5'- CTGGTTCACCTTGTCCTTACAGG -3'

Posted On

2015-10-21