Mutagenetix > Incidental Mutation

Incidental Mutation 'R1498:Ankrd6'

169016

Institutional Source

Beutler Lab

Gene Symbol

Ankrd6

Ensembl Gene

ENSMUSG00000040183

Gene Name

ankyrin repeat domain 6

Synonyms

diversin

MMRRC Submission

039549-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32804035-32950841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32810289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 405 (M405T)

Ref Sequence

ENSEMBL: ENSMUSP00000103801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035719] [ENSMUST00000084748] [ENSMUST00000084749] [ENSMUST00000084750] [ENSMUST00000108166]

AlphaFold

Q69ZU8

Predicted Effect

probably benign
Transcript: ENSMUST00000035719
AA Change: M464T

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

SMART Domains

Protein: ENSMUSP00000041300
Gene: ENSMUSG00000040183
AA Change: M464T

Domain	Start	End	E-Value	Type
ANK	9	38	2.55e2	SMART
ANK	41	70	2.08e-7	SMART
ANK	74	103	3.49e0	SMART
ANK	107	136	5.24e-4	SMART
ANK	140	169	3.74e0	SMART
ANK	173	202	6.12e-5	SMART
ANK	206	235	5.32e-5	SMART
ANK	239	268	6.24e2	SMART
low complexity region	365	377	N/A	INTRINSIC
coiled coil region	417	445	N/A	INTRINSIC
low complexity region	536	556	N/A	INTRINSIC
low complexity region	625	643	N/A	INTRINSIC
coiled coil region	672	712	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084748
AA Change: M429T

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000081800
Gene: ENSMUSG00000040183
AA Change: M429T

Domain	Start	End	E-Value	Type
ANK	9	38	2.55e2	SMART
ANK	41	70	2.08e-7	SMART
ANK	74	103	3.49e0	SMART
ANK	107	136	5.24e-4	SMART
ANK	140	169	3.74e0	SMART
ANK	173	202	6.12e-5	SMART
ANK	206	235	5.32e-5	SMART
ANK	239	269	2.11e2	SMART
low complexity region	330	342	N/A	INTRINSIC
coiled coil region	382	410	N/A	INTRINSIC
low complexity region	501	521	N/A	INTRINSIC
low complexity region	590	608	N/A	INTRINSIC
coiled coil region	637	677	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084749
AA Change: M464T

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

SMART Domains

Protein: ENSMUSP00000081801
Gene: ENSMUSG00000040183
AA Change: M464T

Domain	Start	End	E-Value	Type
ANK	9	38	2.55e2	SMART
ANK	41	70	2.08e-7	SMART
ANK	74	103	3.49e0	SMART
ANK	107	136	5.24e-4	SMART
ANK	140	169	3.74e0	SMART
ANK	173	202	6.12e-5	SMART
ANK	206	235	5.32e-5	SMART
ANK	239	268	6.24e2	SMART
low complexity region	365	377	N/A	INTRINSIC
coiled coil region	417	445	N/A	INTRINSIC
low complexity region	536	556	N/A	INTRINSIC
low complexity region	625	643	N/A	INTRINSIC
coiled coil region	672	712	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084750
AA Change: M464T

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

SMART Domains

Protein: ENSMUSP00000081802
Gene: ENSMUSG00000040183
AA Change: M464T

Domain	Start	End	E-Value	Type
ANK	9	38	2.55e2	SMART
ANK	41	70	2.08e-7	SMART
ANK	74	103	3.49e0	SMART
ANK	107	136	5.24e-4	SMART
ANK	140	169	3.74e0	SMART
ANK	173	202	6.12e-5	SMART
ANK	206	235	5.32e-5	SMART
ANK	239	268	6.24e2	SMART
low complexity region	365	377	N/A	INTRINSIC
coiled coil region	417	445	N/A	INTRINSIC
low complexity region	536	556	N/A	INTRINSIC
low complexity region	625	643	N/A	INTRINSIC
coiled coil region	672	712	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108166
AA Change: M405T

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103801
Gene: ENSMUSG00000040183
AA Change: M405T

Domain	Start	End	E-Value	Type
ANK	9	38	2.55e2	SMART
ANK	41	70	2.08e-7	SMART
ANK	74	103	3.49e0	SMART
ANK	107	136	3.74e0	SMART
ANK	140	169	6.12e-5	SMART
ANK	173	202	5.32e-5	SMART
low complexity region	207	227	N/A	INTRINSIC
low complexity region	306	318	N/A	INTRINSIC
coiled coil region	358	386	N/A	INTRINSIC
low complexity region	468	491	N/A	INTRINSIC
low complexity region	561	579	N/A	INTRINSIC
coiled coil region	608	648	N/A	INTRINSIC

Meta Mutation Damage Score

0.0734

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

97% (83/86)

MGI Phenotype

FUNCTION: This gene encodes a protein which is thought to be involved in the Wnt signaling pathway and embryonic axis formation. Similar genes have been found in human, rhesus macaque, and zebrafish. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display sporadic disruption of utricle hair cell polarity but normal cochlear and vestibular hair cell morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,374,627 (GRCm39)	S799P	probably benign	Het
Acvr1b	T	C	15: 101,091,891 (GRCm39)	F57S	probably benign	Het
Adamts5	T	A	16: 85,696,990 (GRCm39)	T56S	possibly damaging	Het
Adrb2	T	C	18: 62,312,004 (GRCm39)	T274A	probably damaging	Het
Agr3	A	T	12: 35,984,379 (GRCm39)		probably null	Het
Aoc1l2	A	G	6: 48,908,305 (GRCm39)	H435R	probably benign	Het
Aqp5	T	C	15: 99,491,128 (GRCm39)	I60T	probably damaging	Het
Arf5	G	T	6: 28,426,153 (GRCm39)	R180L	probably benign	Het
Asap3	A	G	4: 135,966,505 (GRCm39)	N528D	probably benign	Het
Atmin	G	A	8: 117,681,540 (GRCm39)	E180K	probably benign	Het
Bcl11a	A	T	11: 24,114,005 (GRCm39)	E449D	probably damaging	Het
Cep128	A	T	12: 91,333,191 (GRCm39)	F25I	probably benign	Het
Cfp	GCAC	GC	X: 20,795,905 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,312,966 (GRCm39)	Y282F	possibly damaging	Het
Cul7	A	G	17: 46,966,636 (GRCm39)	D355G	probably benign	Het
Daxx	T	C	17: 34,131,227 (GRCm39)	Y385H	probably damaging	Het
Dnah2	A	C	11: 69,411,493 (GRCm39)		probably null	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Erc2	T	A	14: 28,024,855 (GRCm39)	M578K	probably benign	Het
Evc	T	A	5: 37,481,044 (GRCm39)	H267L	possibly damaging	Het
Exosc10	A	C	4: 148,666,243 (GRCm39)	Q837P	possibly damaging	Het
Fasn	G	A	11: 120,706,245 (GRCm39)	T1033I	probably damaging	Het
Fat1	C	A	8: 45,478,521 (GRCm39)	Y2522*	probably null	Het
Fbxw8	G	A	5: 118,203,850 (GRCm39)		probably benign	Het
Fyn	A	G	10: 39,408,120 (GRCm39)	D321G	possibly damaging	Het
Grm6	G	A	11: 50,748,083 (GRCm39)	V398M	probably damaging	Het
Gtpbp1	T	A	15: 79,603,222 (GRCm39)		probably null	Het
Hnf1a	A	G	5: 115,108,596 (GRCm39)	V103A	probably damaging	Het
Hsp90aa1	A	T	12: 110,662,122 (GRCm39)		probably null	Het
Iqgap2	C	T	13: 95,783,313 (GRCm39)	V1288I	probably benign	Het
Irx5	A	G	8: 93,086,514 (GRCm39)	D199G	probably damaging	Het
Klrh1	A	G	6: 129,748,703 (GRCm39)	S105P	probably damaging	Het
Krt9	G	T	11: 100,079,195 (GRCm39)	C732*	probably null	Het
Lifr	T	C	15: 7,220,099 (GRCm39)	S910P	probably damaging	Het
Lrig1	G	A	6: 94,604,968 (GRCm39)	A209V	possibly damaging	Het
Lrrk1	T	A	7: 65,952,419 (GRCm39)	R506*	probably null	Het
Lyst	T	A	13: 13,824,960 (GRCm39)	I1525K	possibly damaging	Het
Mad2l1	C	T	6: 66,516,826 (GRCm39)	Q173*	probably null	Het
Mcoln1	T	A	8: 3,562,861 (GRCm39)	I524N	probably damaging	Het
Mmp3	A	T	9: 7,446,967 (GRCm39)	D49V	possibly damaging	Het
Morc3	A	T	16: 93,650,743 (GRCm39)	N321I	probably damaging	Het
Mrpl48	T	C	7: 100,195,695 (GRCm39)		probably benign	Het
Myo6	T	A	9: 80,214,961 (GRCm39)	D1231E	probably damaging	Het
Nlrc4	A	G	17: 74,753,408 (GRCm39)	I325T	probably benign	Het
Or1j19	A	T	2: 36,677,358 (GRCm39)	I274F	probably damaging	Het
Or2ag17	T	C	7: 106,389,623 (GRCm39)	Y195C	possibly damaging	Het
Or4f61	A	T	2: 111,922,938 (GRCm39)	M36K	probably benign	Het
Or8c16	C	G	9: 38,130,676 (GRCm39)	P183A	probably damaging	Het
Or8k32	A	G	2: 86,368,902 (GRCm39)	V117A	probably benign	Het
Parvg	T	A	15: 84,218,832 (GRCm39)	S230T	possibly damaging	Het
Pcca	T	C	14: 122,854,230 (GRCm39)	I118T	probably damaging	Het
Pde6a	A	G	18: 61,365,932 (GRCm39)	N219S	possibly damaging	Het
Phldb1	G	T	9: 44,612,915 (GRCm39)	P935Q	possibly damaging	Het
Plppr5	T	C	3: 117,456,261 (GRCm39)	S261P	probably damaging	Het
Ppl	T	C	16: 4,922,629 (GRCm39)	N260S	probably benign	Het
Ppp1r3e	A	T	14: 55,113,882 (GRCm39)	H263Q	probably benign	Het
Ppp3cb	T	C	14: 20,559,567 (GRCm39)		probably null	Het
Ppt2	A	T	17: 34,842,075 (GRCm39)	D185E	probably benign	Het
Prr27	A	T	5: 87,998,600 (GRCm39)		probably benign	Het
Ptcd3	A	T	6: 71,870,479 (GRCm39)	V327E	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rtp1	A	T	16: 23,249,970 (GRCm39)	M112L	probably benign	Het
Slc22a5	A	T	11: 53,760,140 (GRCm39)	L392Q	probably damaging	Het
Slc6a7	A	G	18: 61,129,764 (GRCm39)	I614T	probably benign	Het
Slu7	C	A	11: 43,329,044 (GRCm39)	P89T	possibly damaging	Het
Smarcc2	T	C	10: 128,318,061 (GRCm39)	V618A	probably benign	Het
Sorl1	C	T	9: 41,952,369 (GRCm39)	R729Q	probably damaging	Het
Sptbn2	T	C	19: 4,794,274 (GRCm39)	F1493L	possibly damaging	Het
Sulf1	C	T	1: 12,918,574 (GRCm39)	T66I	probably damaging	Het
Tgtp2	A	G	11: 48,950,165 (GRCm39)	Y136H	probably damaging	Het
Tmem117	T	C	15: 94,536,242 (GRCm39)	F92S	probably damaging	Het
Tmprss9	T	A	10: 80,730,934 (GRCm39)	V820E	probably benign	Het
Tpcn2	A	G	7: 144,822,648 (GRCm39)	Y266H	probably damaging	Het
Trat1	A	G	16: 48,555,304 (GRCm39)	S143P	probably benign	Het
Vmn1r49	T	A	6: 90,049,298 (GRCm39)	R235W	probably damaging	Het
Vmn1r71	A	T	7: 10,482,575 (GRCm39)	C38S	probably benign	Het
Vmn2r6	T	A	3: 64,463,890 (GRCm39)	T315S	probably damaging	Het
Wdr36	A	G	18: 32,986,021 (GRCm39)	D575G	possibly damaging	Het
Zfp292	G	T	4: 34,805,397 (GRCm39)	A2549E	possibly damaging	Het
Zfp354a	A	T	11: 50,961,073 (GRCm39)	H426L	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp648	T	A	1: 154,081,119 (GRCm39)	I426N	probably damaging	Het
Zfp87	T	C	13: 74,520,736 (GRCm39)	N114S	probably benign	Het

Other mutations in Ankrd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02489:Ankrd6	APN	4	32,810,298 (GRCm39)	missense	probably damaging	1.00
IGL03247:Ankrd6	APN	4	32,860,441 (GRCm39)	start codon destroyed	possibly damaging	0.76
IGL03382:Ankrd6	APN	4	32,808,771 (GRCm39)	missense	probably damaging	1.00
R0360:Ankrd6	UTSW	4	32,836,424 (GRCm39)	missense	probably damaging	1.00
R0711:Ankrd6	UTSW	4	32,815,326 (GRCm39)	missense	probably damaging	1.00
R1074:Ankrd6	UTSW	4	32,822,232 (GRCm39)	missense	probably damaging	1.00
R1075:Ankrd6	UTSW	4	32,822,232 (GRCm39)	missense	probably damaging	1.00
R1719:Ankrd6	UTSW	4	32,828,774 (GRCm39)	missense	probably damaging	1.00
R1823:Ankrd6	UTSW	4	32,824,427 (GRCm39)	missense	probably damaging	1.00
R2889:Ankrd6	UTSW	4	32,818,704 (GRCm39)	missense	probably damaging	0.99
R2897:Ankrd6	UTSW	4	32,860,438 (GRCm39)	missense	probably damaging	0.98
R3815:Ankrd6	UTSW	4	32,806,206 (GRCm39)	missense	probably benign	0.39
R3836:Ankrd6	UTSW	4	32,817,531 (GRCm39)	missense	probably damaging	1.00
R4127:Ankrd6	UTSW	4	32,822,241 (GRCm39)	missense	probably damaging	1.00
R4994:Ankrd6	UTSW	4	32,860,387 (GRCm39)	missense	probably damaging	0.99
R5250:Ankrd6	UTSW	4	32,860,335 (GRCm39)	missense	probably damaging	1.00
R5291:Ankrd6	UTSW	4	32,823,446 (GRCm39)	missense	probably damaging	1.00
R5335:Ankrd6	UTSW	4	32,818,651 (GRCm39)	missense	probably damaging	1.00
R5948:Ankrd6	UTSW	4	32,817,075 (GRCm39)	missense	possibly damaging	0.91
R6336:Ankrd6	UTSW	4	32,860,411 (GRCm39)	missense	probably damaging	1.00
R6345:Ankrd6	UTSW	4	32,810,266 (GRCm39)	missense	probably damaging	1.00
R6349:Ankrd6	UTSW	4	32,822,231 (GRCm39)	missense	probably damaging	1.00
R6516:Ankrd6	UTSW	4	32,836,427 (GRCm39)	missense	probably damaging	1.00
R6902:Ankrd6	UTSW	4	32,806,420 (GRCm39)	missense	probably damaging	1.00
R6902:Ankrd6	UTSW	4	32,806,419 (GRCm39)	missense	probably damaging	1.00
R6999:Ankrd6	UTSW	4	32,823,459 (GRCm39)	missense	probably benign
R7044:Ankrd6	UTSW	4	32,815,260 (GRCm39)	missense	possibly damaging	0.93
R7307:Ankrd6	UTSW	4	32,816,949 (GRCm39)	missense	possibly damaging	0.92
R7394:Ankrd6	UTSW	4	32,821,298 (GRCm39)	missense	probably damaging	0.99
R7496:Ankrd6	UTSW	4	32,810,299 (GRCm39)	missense	probably damaging	0.99
R7662:Ankrd6	UTSW	4	32,818,694 (GRCm39)	missense	probably damaging	1.00
R7873:Ankrd6	UTSW	4	32,806,499 (GRCm39)	missense	possibly damaging	0.91
R8328:Ankrd6	UTSW	4	32,810,215 (GRCm39)	missense	probably benign	0.27
R8739:Ankrd6	UTSW	4	32,806,337 (GRCm39)	missense	possibly damaging	0.47
R8937:Ankrd6	UTSW	4	32,823,452 (GRCm39)	missense	possibly damaging	0.95
R9211:Ankrd6	UTSW	4	32,806,580 (GRCm39)	missense	probably damaging	1.00
R9295:Ankrd6	UTSW	4	32,822,160 (GRCm39)	missense	probably damaging	0.98
R9319:Ankrd6	UTSW	4	32,806,324 (GRCm39)	missense	probably benign	0.02
R9702:Ankrd6	UTSW	4	32,810,202 (GRCm39)	missense	possibly damaging	0.49
R9741:Ankrd6	UTSW	4	32,860,339 (GRCm39)	nonsense	probably null
X0064:Ankrd6	UTSW	4	32,806,435 (GRCm39)	missense	possibly damaging	0.93
Z1176:Ankrd6	UTSW	4	32,824,486 (GRCm39)	missense	probably damaging	0.98
Z1176:Ankrd6	UTSW	4	32,806,326 (GRCm39)	missense	probably benign	0.08
Z1176:Ankrd6	UTSW	4	32,806,229 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GGAATGCAAATGGCCTCTGCAC -3'
(R):5'- CAGAATCCCTGCCTACATGATCTGC -3'

Sequencing Primer
(F):5'- ACTCCCAACCTTTGGGTTTG -3'
(R):5'- GTGCTCTACTAAGCACTTAGGAC -3'

Posted On

2014-04-13