Mutagenetix > Incidental Mutation

Incidental Mutation 'R7662:Ankrd6'

591612

Institutional Source

Beutler Lab

Gene Symbol

Ankrd6

Ensembl Gene

ENSMUSG00000040183

Gene Name

ankyrin repeat domain 6

Synonyms

diversin

MMRRC Submission

045737-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32804035-32950841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32818694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 270 (R270C)

Ref Sequence

ENSEMBL: ENSMUSP00000041300 (fasta)

Gene Model

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

AlphaFold

Q69ZU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000035719
AA Change: R270C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041300
Gene: ENSMUSG00000040183
AA Change: R270C

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

SMART Domains

Protein: ENSMUSP00000081800
Gene: ENSMUSG00000040183

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 damaging
Transcript: ENSMUST00000084749
AA Change: R270C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000081801
Gene: ENSMUSG00000040183
AA Change: R270C

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 damaging
Transcript: ENSMUST00000084750
AA Change: R270C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000081802
Gene: ENSMUSG00000040183
AA Change: R270C

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 damaging
Transcript: ENSMUST00000108166
AA Change: R211C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103801
Gene: ENSMUSG00000040183
AA Change: R211C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

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
4930563M21Rik	G	A	9: 55,885,999 (GRCm39)	S48L	probably benign	Het
Abi3bp	A	G	16: 56,437,686 (GRCm39)		probably null	Het
Adss1	T	A	12: 112,606,172 (GRCm39)	V456E	probably damaging	Het
Aimp1	A	T	3: 132,379,827 (GRCm39)	V105E	probably benign	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Asb15	T	A	6: 24,566,089 (GRCm39)	D347E	probably benign	Het
Axin2	T	A	11: 108,833,282 (GRCm39)	L489Q	possibly damaging	Het
Baiap2l1	G	A	5: 144,294,700 (GRCm39)		probably benign	Het
Cdc6	T	A	11: 98,801,438 (GRCm39)	N194K	possibly damaging	Het
Cdc6	T	C	11: 98,807,836 (GRCm39)	L443P	probably benign	Het
Celf2	C	A	2: 6,558,728 (GRCm39)	G393C	probably damaging	Het
Cep290	T	A	10: 100,373,665 (GRCm39)	M1315K	probably benign	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cntn5	A	T	9: 9,661,390 (GRCm39)	M887K	probably benign	Het
Col17a1	T	C	19: 47,669,940 (GRCm39)	I71V	probably benign	Het
Crot	T	C	5: 9,019,072 (GRCm39)	M494V	probably damaging	Het
Ctnna2	A	T	6: 77,613,852 (GRCm39)	V246D	probably damaging	Het
Cyb5r4	A	G	9: 86,909,091 (GRCm39)	E56G	possibly damaging	Het
Dennd2a	A	G	6: 39,470,037 (GRCm39)	Y552H	probably benign	Het
Dennd4a	A	G	9: 64,759,713 (GRCm39)	I273V	probably damaging	Het
Dkk2	A	G	3: 131,883,629 (GRCm39)		probably null	Het
Dnaja2	A	C	8: 86,265,905 (GRCm39)	D393E	probably benign	Het
Dscc1	T	A	15: 54,939,561 (GRCm39)	I461F	possibly damaging	Het
Dspp	A	T	5: 104,325,736 (GRCm39)	S700C	unknown	Het
Ect2	T	A	3: 27,185,947 (GRCm39)	H512L	probably damaging	Het
Eif1b	A	G	9: 120,323,277 (GRCm39)	T46A	possibly damaging	Het
Fam114a2	A	T	11: 57,398,391 (GRCm39)	D182E	probably damaging	Het
Fez1	C	A	9: 36,781,796 (GRCm39)	P347H	probably damaging	Het
Fgd5	G	A	6: 92,026,912 (GRCm39)		probably null	Het
Flad1	T	A	3: 89,310,758 (GRCm39)	I430F	probably damaging	Het
Gal3st2b	T	C	1: 93,868,614 (GRCm39)	Y282H	probably damaging	Het
Gm29106	T	A	1: 118,127,137 (GRCm39)	N276K	possibly damaging	Het
Gm36176	C	A	10: 77,682,686 (GRCm39)	S16Y	unknown	Het
Gm5624	T	C	14: 44,799,390 (GRCm39)	R56G	possibly damaging	Het
Gpatch11	A	C	17: 79,146,484 (GRCm39)	Q43P	probably benign	Het
Gtpbp2	A	G	17: 46,477,361 (GRCm39)	T409A	probably benign	Het
Hmcn2	T	C	2: 31,272,357 (GRCm39)	I1279T	probably benign	Het
Itih3	T	A	14: 30,639,287 (GRCm39)	N429Y	probably benign	Het
Lrp5	A	G	19: 3,736,353 (GRCm39)		probably null	Het
Lrrc34	T	A	3: 30,697,452 (GRCm39)	Y93F	probably benign	Het
Lypd9	T	C	11: 58,338,269 (GRCm39)	N41S	probably benign	Het
Malrd1	T	A	2: 15,876,265 (GRCm39)	V1404D	unknown	Het
Med1	T	C	11: 98,046,218 (GRCm39)	N1526S	unknown	Het
Myt1l	A	G	12: 29,876,868 (GRCm39)	D173G	unknown	Het
Nckap1l	A	T	15: 103,371,012 (GRCm39)	H197L	probably damaging	Het
Nipa1	T	C	7: 55,629,372 (GRCm39)	E247G	probably damaging	Het
Nmrk1	A	T	19: 18,619,542 (GRCm39)	R132*	probably null	Het
Nrap	G	T	19: 56,308,715 (GRCm39)	A1700E	probably benign	Het
Odr4	T	C	1: 150,258,045 (GRCm39)	S197G	probably benign	Het
Or13p8	T	A	4: 118,583,504 (GRCm39)	F20Y	probably damaging	Het
Or8g32	A	T	9: 39,305,389 (GRCm39)	M98L	probably benign	Het
Padi6	T	C	4: 140,456,306 (GRCm39)	T563A	probably benign	Het
Pcdhb19	G	A	18: 37,631,788 (GRCm39)	E528K	probably damaging	Het
Pcnt	T	C	10: 76,223,356 (GRCm39)	D1942G	probably benign	Het
Pcnx2	C	T	8: 126,545,510 (GRCm39)	W1167*	probably null	Het
Pkp3	C	T	7: 140,658,292 (GRCm39)	T19I	probably benign	Het
Plekhg5	T	C	4: 152,188,755 (GRCm39)	L199P	probably damaging	Het
Rasal1	A	G	5: 120,800,249 (GRCm39)	T171A	probably benign	Het
Rgsl1	T	C	1: 153,701,225 (GRCm39)	I410V	probably benign	Het
Scart2	T	C	7: 139,874,725 (GRCm39)	V401A	possibly damaging	Het
Sftpa1	C	A	14: 40,856,169 (GRCm39)	N171K	probably damaging	Het
Slc5a9	A	T	4: 111,734,737 (GRCm39)	*686R	probably null	Het
Smap1	A	T	1: 23,916,855 (GRCm39)	N91K	probably damaging	Het
Tenm3	A	G	8: 48,788,762 (GRCm39)	S695P	probably benign	Het
Thoc3	A	T	13: 54,611,617 (GRCm39)	H223Q	probably damaging	Het
Tmco4	T	C	4: 138,737,872 (GRCm39)	F156L	probably benign	Het
Tmem30a	C	T	9: 79,682,513 (GRCm39)	V188I	probably benign	Het
Trim27	T	A	13: 21,376,328 (GRCm39)	C359S	probably benign	Het
Trrap	A	G	5: 144,769,321 (GRCm39)	T2609A	probably benign	Het
Ttn	A	G	2: 76,692,744 (GRCm39)	V446A		Het
Vat1l	T	A	8: 115,009,084 (GRCm39)	Y273N	probably damaging	Het
Vmn1r129	T	A	7: 21,094,552 (GRCm39)	H222L	possibly damaging	Het
Vmn2r19	A	G	6: 123,308,521 (GRCm39)	T533A	probably benign	Het
Vmn2r77	T	A	7: 86,460,492 (GRCm39)	L606*	probably null	Het
Vmn2r93	G	T	17: 18,525,631 (GRCm39)	V430L	probably benign	Het
Vps50	T	A	6: 3,562,304 (GRCm39)	N466K	probably damaging	Het
Zfp507	A	T	7: 35,487,229 (GRCm39)	Y746*	probably null	Het
Zfp521	A	C	18: 13,977,173 (GRCm39)	L1080R	probably damaging	Het
Zfp74	A	G	7: 29,653,278 (GRCm39)		probably null	Het
Zfp831	G	A	2: 174,487,934 (GRCm39)	A870T	possibly damaging	Het
Zfp936	A	T	7: 42,839,336 (GRCm39)	K268*	probably null	Het
Zhx2	C	A	15: 57,685,572 (GRCm39)	R314S	probably damaging	Het
Zkscan16	A	T	4: 58,957,679 (GRCm39)	K654*	probably null	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
R1498:Ankrd6	UTSW	4	32,810,289 (GRCm39)	missense	probably benign	0.17
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
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'- GCAAAACTCAGGGCACAGTG -3'
(R):5'- AGGTCCAGCGGTTTCTATGAC -3'

Sequencing Primer
(F):5'- AGGAGGAAGGCCAATCCCTC -3'
(R):5'- GTCCAGCGGTTTCTATGACTACTAG -3'

Posted On

2019-11-12