Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Ankrd6'

567300

Institutional Source

Beutler Lab

Gene Symbol

Ankrd6

Ensembl Gene

ENSMUSG00000040183

Gene Name

ankyrin repeat domain 6

Synonyms

diversin

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32804035-32950841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32816949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 393 (Y393N)

Ref Sequence

ENSEMBL: ENSMUSP00000041300 (fasta)

Gene Model

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

AlphaFold

Q69ZU8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035719
AA Change: Y393N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041300
Gene: ENSMUSG00000040183
AA Change: Y393N

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: Y358N

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

SMART Domains

Protein: ENSMUSP00000081800
Gene: ENSMUSG00000040183
AA Change: Y358N

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

possibly damaging
Transcript: ENSMUST00000084749
AA Change: Y393N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081801
Gene: ENSMUSG00000040183
AA Change: Y393N

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: ENSMUST00000084750
AA Change: Y393N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081802
Gene: ENSMUSG00000040183
AA Change: Y393N

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: Y334N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103801
Gene: ENSMUSG00000040183
AA Change: Y334N

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 17,118,395	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,813	L285F	probably damaging	Het
Arhgap45	A	G	10: 80,029,182	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,347,120		probably null	Het
B4galnt3	T	C	6: 120,215,431	D448G	probably benign	Het
Capn1	C	G	19: 5,993,908	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,399,384	S474P	probably benign	Het
Cdk12	T	A	11: 98,249,800	L1289*	probably null	Het
Cramp1l	A	T	17: 24,974,745	N920K	possibly damaging	Het
Cubn	C	T	2: 13,340,332	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,223,959	I581N	probably damaging	Het
Dnm2	A	T	9: 21,485,687	N487Y	probably damaging	Het
Enc1	A	C	13: 97,245,093	N37T	probably damaging	Het
Ephb3	T	G	16: 21,222,226	I932S	probably benign	Het
Frk	T	A	10: 34,591,938	M316K	probably damaging	Het
Gdap2	C	T	3: 100,202,033	R25C	unknown	Het
Gm10436	A	C	12: 88,181,749	C32W	probably damaging	Het
Gpat2	T	A	2: 127,434,890	D671E	probably damaging	Het
Gpr179	C	T	11: 97,338,846	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,007,833	S69N	probably damaging	Het
Hid1	A	C	11: 115,348,482	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,343,081	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,619,769	F120L	probably damaging	Het
Kif16b	C	T	2: 142,712,931	R649Q	probably benign	Het
Kif17	A	T	4: 138,262,643	E47D	probably benign	Het
Kmt2b	T	C	7: 30,580,471	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,849,418	S3342T	unknown	Het
Krt82	A	G	15: 101,542,907	C356R	probably damaging	Het
Lrit2	A	G	14: 37,072,199	K407E	probably benign	Het
Malt1	T	A	18: 65,451,569	H325Q	possibly damaging	Het
Mccc2	T	G	13: 99,988,600	D187A	possibly damaging	Het
Mgll	T	A	6: 88,814,121		probably null	Het
Mindy2	T	G	9: 70,610,959	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,842,294	V96M	unknown	Het
Nlrp4e	A	G	7: 23,321,528	E480G	probably benign	Het
Nup98	A	G	7: 102,134,795	I1093T	probably benign	Het
Olfr1288	A	T	2: 111,478,760		probably benign	Het
Olfr243	G	T	7: 103,716,966	R124L	probably damaging	Het
Olfr350	G	A	2: 36,850,125	M26I	probably benign	Het
Olfr541	G	A	7: 140,705,147	V299I	probably benign	Het
Pcdhb6	A	T	18: 37,335,478	H484L	probably benign	Het
Phldb1	T	C	9: 44,694,047	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 72,070,964	A275D	probably damaging	Het
Polr2a	A	T	11: 69,747,292		probably null	Het
Polr3a	A	G	14: 24,459,987	C960R	probably benign	Het
Pou6f2	G	A	13: 18,239,713	A159V		Het
Pramef6	A	C	4: 143,896,775	Y276*	probably null	Het
Psmc4	A	G	7: 28,042,660	V303A	probably benign	Het
Ptdss2	A	G	7: 141,151,732	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,589,008	Y1295*	probably null	Het
Rbm19	A	G	5: 120,186,218	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,021,102	Y183*	probably null	Het
Rnd1	T	C	15: 98,670,799	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,418,179	C282S	probably damaging	Het
S100b	G	A	10: 76,257,092	G20R	probably benign	Het
Sae1	G	T	7: 16,368,544	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600	G1554*	probably null	Het
Samhd1	T	C	2: 157,135,020	S55G	probably benign	Het
Sgsm1	T	C	5: 113,273,646	D525G	probably benign	Het
Slc28a3	A	T	13: 58,563,172	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,318,390	N67K	probably benign	Het
Smarca4	T	A	9: 21,638,800	I402N	probably damaging	Het
St7l	T	C	3: 104,889,353	F261L	probably benign	Het
Syde2	T	A	3: 146,015,798	V1140D	probably damaging	Het
Syt6	T	A	3: 103,587,472	I251N	probably damaging	Het
Taok2	T	C	7: 126,866,818	E916G	probably damaging	Het
Tecta	A	G	9: 42,377,992	S426P	probably damaging	Het
Thra	T	C	11: 98,764,308	I338T	probably damaging	Het
Trub1	A	T	19: 57,472,703	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,545	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,183,500	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,330,541	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,313,250	Y100H	probably damaging	Het

Other mutations in Ankrd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02489:Ankrd6	APN	4	32810298	missense	probably damaging	1.00
IGL03247:Ankrd6	APN	4	32860441	start codon destroyed	possibly damaging	0.76
IGL03382:Ankrd6	APN	4	32808771	missense	probably damaging	1.00
R0360:Ankrd6	UTSW	4	32836424	missense	probably damaging	1.00
R0711:Ankrd6	UTSW	4	32815326	missense	probably damaging	1.00
R1074:Ankrd6	UTSW	4	32822232	missense	probably damaging	1.00
R1075:Ankrd6	UTSW	4	32822232	missense	probably damaging	1.00
R1498:Ankrd6	UTSW	4	32810289	missense	probably benign	0.17
R1719:Ankrd6	UTSW	4	32828774	missense	probably damaging	1.00
R1823:Ankrd6	UTSW	4	32824427	missense	probably damaging	1.00
R2889:Ankrd6	UTSW	4	32818704	missense	probably damaging	0.99
R2897:Ankrd6	UTSW	4	32860438	missense	probably damaging	0.98
R3815:Ankrd6	UTSW	4	32806206	missense	probably benign	0.39
R3836:Ankrd6	UTSW	4	32817531	missense	probably damaging	1.00
R4127:Ankrd6	UTSW	4	32822241	missense	probably damaging	1.00
R4994:Ankrd6	UTSW	4	32860387	missense	probably damaging	0.99
R5250:Ankrd6	UTSW	4	32860335	missense	probably damaging	1.00
R5291:Ankrd6	UTSW	4	32823446	missense	probably damaging	1.00
R5335:Ankrd6	UTSW	4	32818651	missense	probably damaging	1.00
R5948:Ankrd6	UTSW	4	32817075	missense	possibly damaging	0.91
R6336:Ankrd6	UTSW	4	32860411	missense	probably damaging	1.00
R6345:Ankrd6	UTSW	4	32810266	missense	probably damaging	1.00
R6349:Ankrd6	UTSW	4	32822231	missense	probably damaging	1.00
R6516:Ankrd6	UTSW	4	32836427	missense	probably damaging	1.00
R6902:Ankrd6	UTSW	4	32806419	missense	probably damaging	1.00
R6902:Ankrd6	UTSW	4	32806420	missense	probably damaging	1.00
R6999:Ankrd6	UTSW	4	32823459	missense	probably benign
R7044:Ankrd6	UTSW	4	32815260	missense	possibly damaging	0.93
R7394:Ankrd6	UTSW	4	32821298	missense	probably damaging	0.99
R7496:Ankrd6	UTSW	4	32810299	missense	probably damaging	0.99
R7662:Ankrd6	UTSW	4	32818694	missense	probably damaging	1.00
R7873:Ankrd6	UTSW	4	32806499	missense	possibly damaging	0.91
R8328:Ankrd6	UTSW	4	32810215	missense	probably benign	0.27
R8739:Ankrd6	UTSW	4	32806337	missense	possibly damaging	0.47
R8937:Ankrd6	UTSW	4	32823452	missense	possibly damaging	0.95
R9211:Ankrd6	UTSW	4	32806580	missense	probably damaging	1.00
R9295:Ankrd6	UTSW	4	32822160	missense	probably damaging	0.98
R9319:Ankrd6	UTSW	4	32806324	missense	probably benign	0.02
R9702:Ankrd6	UTSW	4	32810202	missense	possibly damaging	0.49
R9741:Ankrd6	UTSW	4	32860339	nonsense	probably null
X0064:Ankrd6	UTSW	4	32806435	missense	possibly damaging	0.93
Z1176:Ankrd6	UTSW	4	32806229	missense	possibly damaging	0.86
Z1176:Ankrd6	UTSW	4	32806326	missense	probably benign	0.08
Z1176:Ankrd6	UTSW	4	32824486	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTTGGAATCCACCCACTCTG -3'
(R):5'- TTGCCAGAGCTTAGGAGTGG -3'

Sequencing Primer
(F):5'- TCAAAGCAGAGGTCCCCTAAGG -3'
(R):5'- AGGAGTGGCGACCCTTCTTTC -3'

Posted On

2019-06-26