Mutagenetix > Incidental Mutation

Incidental Mutation 'R4994:Ankrd6'

385081

Institutional Source

Beutler Lab

Gene Symbol

Ankrd6

Ensembl Gene

ENSMUSG00000040183

Gene Name

ankyrin repeat domain 6

Synonyms

diversin

MMRRC Submission

042588-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4994 (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 32860387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 19 (Y19H)

Ref Sequence

ENSEMBL: ENSMUSP00000081802 (fasta)

Gene Model

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

AlphaFold

Q69ZU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000035719
AA Change: Y19H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041300
Gene: ENSMUSG00000040183
AA Change: Y19H

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: ENSMUST00000084748
AA Change: Y19H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081800
Gene: ENSMUSG00000040183
AA Change: Y19H

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: Y19H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081801
Gene: ENSMUSG00000040183
AA Change: Y19H

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: Y19H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081802
Gene: ENSMUSG00000040183
AA Change: Y19H

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

possibly damaging
Transcript: ENSMUST00000108166
AA Change: Y19H

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103801
Gene: ENSMUSG00000040183
AA Change: Y19H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149650

Meta Mutation Damage Score

0.0850

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,962 (GRCm39)	E364G	probably benign	Het
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcb4	A	G	5: 8,978,524 (GRCm39)	T557A	probably damaging	Het
Acadm	C	T	3: 153,635,221 (GRCm39)	E298K	probably damaging	Het
Adrb3	T	C	8: 27,717,855 (GRCm39)		probably null	Het
Aldh1b1	A	G	4: 45,803,128 (GRCm39)	Y222C	possibly damaging	Het
Arhgap21	T	A	2: 20,854,701 (GRCm39)	T1554S	probably benign	Het
BC043934	T	C	9: 96,319,173 (GRCm39)		noncoding transcript	Het
Birc6	A	G	17: 74,901,319 (GRCm39)		probably benign	Het
Blm	A	C	7: 80,108,573 (GRCm39)	F1357C	probably benign	Het
Cd209a	T	C	8: 3,797,713 (GRCm39)		probably null	Het
Cdk7	G	A	13: 100,854,103 (GRCm39)	H129Y	probably damaging	Het
Clec14a	G	T	12: 58,315,070 (GRCm39)	P184Q	probably damaging	Het
Cma1	T	A	14: 56,179,128 (GRCm39)	I243F	probably damaging	Het
Cntnap3	G	T	13: 64,909,798 (GRCm39)	T769K	possibly damaging	Het
Col5a1	A	C	2: 27,922,751 (GRCm39)	K273T	possibly damaging	Het
Csnk1e	A	G	15: 79,309,129 (GRCm39)	Y266H	probably damaging	Het
Cyb5d1	A	G	11: 69,284,597 (GRCm39)	L185S	probably damaging	Het
Dennd5b	T	C	6: 148,942,998 (GRCm39)		probably null	Het
Dipk2a	C	A	9: 94,419,486 (GRCm39)	R148L	probably benign	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Dzank1	T	G	2: 144,364,486 (GRCm39)	D37A	probably damaging	Het
Echdc2	A	G	4: 108,022,825 (GRCm39)	I34V	probably benign	Het
Esm1	A	T	13: 113,349,965 (GRCm39)	R128S	probably benign	Het
Fbh1	T	A	2: 11,769,041 (GRCm39)	I251F	probably damaging	Het
Fbrsl1	A	G	5: 110,595,817 (GRCm39)	S73P	probably damaging	Het
Fbxo6	A	T	4: 148,233,948 (GRCm39)	S49R	probably damaging	Het
Gm17093	A	T	14: 44,756,779 (GRCm39)	Q82L	probably damaging	Het
Hmcn2	T	C	2: 31,348,067 (GRCm39)		probably null	Het
Hspa4l	C	A	3: 40,700,081 (GRCm39)		probably benign	Het
Il3ra	G	A	14: 14,351,080 (GRCm38)	A201T	probably benign	Het
Irx5	T	A	8: 93,087,409 (GRCm39)	V447E	probably damaging	Het
Kif14	G	T	1: 136,410,697 (GRCm39)	L668F	probably damaging	Het
Lag3	T	A	6: 124,881,416 (GRCm39)	R519W	unknown	Het
Lgr4	A	G	2: 109,842,283 (GRCm39)	N756S	probably damaging	Het
Lingo4	A	G	3: 94,309,848 (GRCm39)	H262R	probably benign	Het
Lingo4	T	A	3: 94,310,308 (GRCm39)	H415Q	probably benign	Het
Lkaaear1	C	A	2: 181,339,376 (GRCm39)	G25*	probably null	Het
Maco1	A	G	4: 134,555,610 (GRCm39)	Y288H	probably damaging	Het
Marf1	T	C	16: 13,932,095 (GRCm39)	K1641E	probably benign	Het
Mtfmt	T	C	9: 65,351,133 (GRCm39)		probably benign	Het
Mtif3	G	A	5: 146,893,598 (GRCm39)	T203M	probably benign	Het
Mycbp2	A	G	14: 103,407,430 (GRCm39)	I2740T	probably benign	Het
Nrdc	A	G	4: 108,903,809 (GRCm39)	T720A	probably benign	Het
Or2d2	T	C	7: 106,728,271 (GRCm39)	T110A	probably benign	Het
Peak1	T	A	9: 56,148,560 (GRCm39)	D32V	possibly damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Plekhg3	A	G	12: 76,612,311 (GRCm39)	R391G	possibly damaging	Het
Ppfia3	T	C	7: 44,990,542 (GRCm39)	D919G	probably damaging	Het
Pramel23	T	A	4: 143,424,939 (GRCm39)	Q168L	possibly damaging	Het
Rnase2b	T	A	14: 51,400,208 (GRCm39)	D96E	possibly damaging	Het
Rsf1	CGGCGGC	CGGCGGCCGCGGCGGC	7: 97,229,130 (GRCm39)		probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Serpina3f	A	G	12: 104,186,615 (GRCm39)	T394A	probably benign	Het
Six3	A	G	17: 85,928,720 (GRCm39)	N18S	possibly damaging	Het
Slc12a5	T	A	2: 164,825,285 (GRCm39)		probably null	Het
Slc35f6	A	G	5: 30,805,427 (GRCm39)	N21S	probably damaging	Het
Slc39a6	A	T	18: 24,729,351 (GRCm39)	I454N	probably damaging	Het
Slc40a1	T	A	1: 45,948,824 (GRCm39)	E485D	probably damaging	Het
Sort1	G	A	3: 108,235,385 (GRCm39)	C255Y	probably damaging	Het
Stab2	T	A	10: 86,785,771 (GRCm39)	T624S	probably benign	Het
Stk33	T	A	7: 108,939,605 (GRCm39)	I99L	probably benign	Het
Taf4b	T	A	18: 15,031,100 (GRCm39)	I828N	probably damaging	Het
Terf2	T	C	8: 107,803,110 (GRCm39)		probably benign	Het
Timd4	C	T	11: 46,706,344 (GRCm39)	R49C	probably damaging	Het
Tpte	T	C	8: 22,808,362 (GRCm39)	S166P	probably benign	Het
Trabd2b	T	C	4: 114,264,052 (GRCm39)	L13P	probably benign	Het
Trappc11	A	T	8: 47,975,476 (GRCm39)	Y247*	probably null	Het
Trnt1	C	T	6: 106,755,853 (GRCm39)	Q303*	probably null	Het
Tspyl5	T	A	15: 33,687,201 (GRCm39)	Q248L	possibly damaging	Het
Ubxn7	A	T	16: 32,200,322 (GRCm39)	K337N	probably damaging	Het
Unc13a	T	A	8: 72,095,816 (GRCm39)	I1234F	probably benign	Het
Vmn1r127	A	T	7: 21,052,943 (GRCm39)	F282I	probably damaging	Het
Wdhd1	A	T	14: 47,506,111 (GRCm39)		probably null	Het
Zfp605	A	G	5: 110,275,352 (GRCm39)	K157E	probably damaging	Het
Zhx2	T	A	15: 57,684,755 (GRCm39)	D41E	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
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
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'- CCACTGGCTATAGAAGTGGGTG -3'
(R):5'- CAGGATTCCGAGCACCTTTC -3'

Sequencing Primer
(F):5'- GCCTTCATCCCTTTACCAAAAG -3'
(R):5'- AGCACCTTTCGCTGTGGAC -3'

Posted On

2016-05-10