Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01980:Ankrd60'

182716

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd60

Ensembl Gene

ENSMUSG00000027517

Gene Name

ankyrin repeat domain 60

Synonyms

1700019A24Rik, 1700030G11Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01980

Quality Score

Status

Chromosome

Chromosomal Location

173568666-173578365 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 173571203 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 164 (C164Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109112] [ENSMUST00000119453]

Predicted Effect

probably benign
Transcript: ENSMUST00000109112
AA Change: C44Y

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104740
Gene: ENSMUSG00000027517
AA Change: C44Y

Domain	Start	End	E-Value	Type
ANK	73	102	2.83e0	SMART
ANK	106	135	2.13e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119453
AA Change: C164Y

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113291
Gene: ENSMUSG00000027517
AA Change: C164Y

Domain	Start	End	E-Value	Type
low complexity region	1	21	N/A	INTRINSIC
Blast:UBQ	70	142	5e-39	BLAST
ANK	193	222	2.83e0	SMART
ANK	226	255	2.13e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147693

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a2	C	T	4: 141,006,152	A979V	probably benign	Het
Col5a2	C	T	1: 45,382,233		probably benign	Het
Col6a6	T	C	9: 105,780,985	N676S	probably damaging	Het
Cpa1	T	C	6: 30,641,582	F192L	possibly damaging	Het
Entpd6	T	A	2: 150,762,366		probably null	Het
Fam185a	A	G	5: 21,459,173	K302E	probably damaging	Het
Il12rb2	T	C	6: 67,360,535	K121E	probably benign	Het
Impg2	G	A	16: 56,221,527	C178Y	probably damaging	Het
Kdm3b	G	T	18: 34,834,236	C1698F	probably damaging	Het
Llgl2	A	G	11: 115,850,025	D451G	probably damaging	Het
Mgat4b	T	A	11: 50,230,713	L52Q	probably damaging	Het
Mmp9	C	A	2: 164,950,916	S363R	probably benign	Het
Mtfmt	A	G	9: 65,437,074	Y94C	probably benign	Het
Myo7b	G	A	18: 31,961,900	L1881F	possibly damaging	Het
Olfr642	A	T	7: 104,050,093	M87K	probably benign	Het
Olfr782	G	T	10: 129,351,517		probably benign	Het
Pex5	T	C	6: 124,398,380	N524S	probably damaging	Het
Plppr1	A	T	4: 49,319,992	Y206F	possibly damaging	Het
Polr3e	A	G	7: 120,940,296		probably benign	Het
Rhbdd1	A	G	1: 82,340,834		probably benign	Het
Rims4	A	T	2: 163,865,782		probably benign	Het
Smarcal1	A	T	1: 72,616,520	K653*	probably null	Het
Stt3b	C	T	9: 115,276,699		probably null	Het
Syt8	C	A	7: 142,440,140	L343M	probably damaging	Het
Tbc1d23	G	A	16: 57,189,252		probably benign	Het
Tfec	T	C	6: 16,845,466	I65V	probably damaging	Het
Tmem236	A	T	2: 14,218,905	Q168H	probably benign	Het
Tmem25	G	A	9: 44,798,271	R78*	probably null	Het
Tnip2	A	G	5: 34,496,868	V288A	probably benign	Het
Ttc1	G	A	11: 43,730,464		probably benign	Het
Tubb4b-ps1	A	C	5: 7,179,843		probably benign	Het
Tut1	T	C	19: 8,954,000	C21R	probably damaging	Het
Ubr4	C	A	4: 139,429,602	Q2313K	probably damaging	Het
Unc5b	T	C	10: 60,780,187	E119G	probably damaging	Het
Vmn1r23	T	A	6: 57,926,490	Q101L	probably damaging	Het
Vmn2r77	A	G	7: 86,801,470	D188G	probably benign	Het
Vmn2r79	A	G	7: 87,037,082	E557G	possibly damaging	Het
Zfp738	A	G	13: 67,669,977	F632L	possibly damaging	Het

Other mutations in Ankrd60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0060:Ankrd60	UTSW	2	173572613	start codon destroyed	probably null	1.00
R0060:Ankrd60	UTSW	2	173572613	start codon destroyed	probably null	1.00
R0569:Ankrd60	UTSW	2	173571066	missense	probably damaging	1.00
R0587:Ankrd60	UTSW	2	173568851	missense	possibly damaging	0.83
R2941:Ankrd60	UTSW	2	173568881	missense	probably damaging	1.00
R4549:Ankrd60	UTSW	2	173572602	missense	possibly damaging	0.89
R5322:Ankrd60	UTSW	2	173568817	missense	possibly damaging	0.76
R5763:Ankrd60	UTSW	2	173578089	frame shift	probably null
R5786:Ankrd60	UTSW	2	173578089	frame shift	probably null
R5787:Ankrd60	UTSW	2	173578089	frame shift	probably null
R5788:Ankrd60	UTSW	2	173578089	frame shift	probably null

Posted On

2014-05-07