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

045366-MU

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(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32816949 bp (GRCm39)

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: 16,936,259 (GRCm39)	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,899 (GRCm39)	L285F	probably damaging	Het
Arhgap45	A	G	10: 79,865,016 (GRCm39)	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,654,549 (GRCm39)		probably null	Het
B4galnt3	T	C	6: 120,192,392 (GRCm39)	D448G	probably benign	Het
Capn1	C	G	19: 6,043,938 (GRCm39)	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,349,384 (GRCm39)	S474P	probably benign	Het
Cdk12	T	A	11: 98,140,626 (GRCm39)	L1289*	probably null	Het
Cramp1	A	T	17: 25,193,719 (GRCm39)	N920K	possibly damaging	Het
Cubn	C	T	2: 13,345,143 (GRCm39)	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,273,960 (GRCm39)	I581N	probably damaging	Het
Dnm2	A	T	9: 21,396,983 (GRCm39)	N487Y	probably damaging	Het
Enc1	A	C	13: 97,381,601 (GRCm39)	N37T	probably damaging	Het
Ephb3	T	G	16: 21,040,976 (GRCm39)	I932S	probably benign	Het
Frk	T	A	10: 34,467,934 (GRCm39)	M316K	probably damaging	Het
Gdap2	C	T	3: 100,109,349 (GRCm39)	R25C	unknown	Het
Gpat2	T	A	2: 127,276,810 (GRCm39)	D671E	probably damaging	Het
Gpr179	C	T	11: 97,229,672 (GRCm39)	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142 (GRCm39)	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,314,833 (GRCm39)	S69N	probably damaging	Het
Hid1	A	C	11: 115,239,308 (GRCm39)	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,233,093 (GRCm39)	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,527,085 (GRCm39)	F120L	probably damaging	Het
Kif16b	C	T	2: 142,554,851 (GRCm39)	R649Q	probably benign	Het
Kif17	A	T	4: 137,989,954 (GRCm39)	E47D	probably benign	Het
Kmt2b	T	C	7: 30,279,896 (GRCm39)	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,747,299 (GRCm39)	S3342T	unknown	Het
Krt82	A	G	15: 101,451,342 (GRCm39)	C356R	probably damaging	Het
Lrit2	A	G	14: 36,794,156 (GRCm39)	K407E	probably benign	Het
Malt1	T	A	18: 65,584,640 (GRCm39)	H325Q	possibly damaging	Het
Mccc2	T	G	13: 100,125,108 (GRCm39)	D187A	possibly damaging	Het
Mgll	T	A	6: 88,791,103 (GRCm39)		probably null	Het
Mindy2	T	G	9: 70,518,241 (GRCm39)	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,396,031 (GRCm39)	V96M	unknown	Het
Nlrp4e	A	G	7: 23,020,953 (GRCm39)	E480G	probably benign	Het
Nup98	A	G	7: 101,784,002 (GRCm39)	I1093T	probably benign	Het
Or13a26	G	A	7: 140,285,060 (GRCm39)	V299I	probably benign	Het
Or1j4	G	A	2: 36,740,137 (GRCm39)	M26I	probably benign	Het
Or4g7	A	T	2: 111,309,105 (GRCm39)		probably benign	Het
Or52a20	G	T	7: 103,366,173 (GRCm39)	R124L	probably damaging	Het
Pcdhb6	A	T	18: 37,468,531 (GRCm39)	H484L	probably benign	Het
Phldb1	T	C	9: 44,605,344 (GRCm39)	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 71,961,790 (GRCm39)	A275D	probably damaging	Het
Polr2a	A	T	11: 69,638,118 (GRCm39)		probably null	Het
Polr3a	A	G	14: 24,510,055 (GRCm39)	C960R	probably benign	Het
Pou6f2	G	A	13: 18,414,298 (GRCm39)	A159V		Het
Pramel11	A	C	4: 143,623,345 (GRCm39)	Y276*	probably null	Het
Pramel51	A	C	12: 88,148,519 (GRCm39)	C32W	probably damaging	Het
Psmc4	A	G	7: 27,742,085 (GRCm39)	V303A	probably benign	Het
Ptdss2	A	G	7: 140,731,645 (GRCm39)	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,465,004 (GRCm39)	Y1295*	probably null	Het
Rbm19	A	G	5: 120,324,283 (GRCm39)	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,331,993 (GRCm39)	Y183*	probably null	Het
Rnd1	T	C	15: 98,568,680 (GRCm39)	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,464,953 (GRCm39)	C282S	probably damaging	Het
S100b	G	A	10: 76,092,926 (GRCm39)	G20R	probably benign	Het
Sae1	G	T	7: 16,102,469 (GRCm39)	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600 (GRCm39)	G1554*	probably null	Het
Samhd1	T	C	2: 156,976,940 (GRCm39)	S55G	probably benign	Het
Sgsm1	T	C	5: 113,421,512 (GRCm39)	D525G	probably benign	Het
Slc28a3	A	T	13: 58,710,986 (GRCm39)	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,024,151 (GRCm39)	N67K	probably benign	Het
Smarca4	T	A	9: 21,550,096 (GRCm39)	I402N	probably damaging	Het
St7l	T	C	3: 104,796,669 (GRCm39)	F261L	probably benign	Het
Syde2	T	A	3: 145,721,553 (GRCm39)	V1140D	probably damaging	Het
Syt6	T	A	3: 103,494,788 (GRCm39)	I251N	probably damaging	Het
Taok2	T	C	7: 126,465,990 (GRCm39)	E916G	probably damaging	Het
Tecta	A	G	9: 42,289,288 (GRCm39)	S426P	probably damaging	Het
Thra	T	C	11: 98,655,134 (GRCm39)	I338T	probably damaging	Het
Trub1	A	T	19: 57,461,135 (GRCm39)	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,691 (GRCm39)	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,237,664 (GRCm39)	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,567,981 (GRCm39)	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,301,682 (GRCm39)	Y100H	probably damaging	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
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'- CTTGGAATCCACCCACTCTG -3'
(R):5'- TTGCCAGAGCTTAGGAGTGG -3'

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

Posted On

2019-06-26