Mutagenetix > Incidental Mutation

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

1700030G11Rik, 1700019A24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01980

Quality Score

Status

Chromosome

Chromosomal Location

173410451-173420066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 173412996 bp (GRCm39)

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]

AlphaFold

A2AMD2

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: 140,733,463 (GRCm39)	A979V	probably benign	Het
Col5a2	C	T	1: 45,421,393 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,658,184 (GRCm39)	N676S	probably damaging	Het
Cpa1	T	C	6: 30,641,581 (GRCm39)	F192L	possibly damaging	Het
Entpd6	T	A	2: 150,604,286 (GRCm39)		probably null	Het
Fam185a	A	G	5: 21,664,171 (GRCm39)	K302E	probably damaging	Het
Il12rb2	T	C	6: 67,337,519 (GRCm39)	K121E	probably benign	Het
Impg2	G	A	16: 56,041,890 (GRCm39)	C178Y	probably damaging	Het
Kdm3b	G	T	18: 34,967,289 (GRCm39)	C1698F	probably damaging	Het
Llgl2	A	G	11: 115,740,851 (GRCm39)	D451G	probably damaging	Het
Mgat4b	T	A	11: 50,121,540 (GRCm39)	L52Q	probably damaging	Het
Mmp9	C	A	2: 164,792,836 (GRCm39)	S363R	probably benign	Het
Mtfmt	A	G	9: 65,344,356 (GRCm39)	Y94C	probably benign	Het
Myo7b	G	A	18: 32,094,953 (GRCm39)	L1881F	possibly damaging	Het
Or51a10	A	T	7: 103,699,300 (GRCm39)	M87K	probably benign	Het
Or6c6	G	T	10: 129,187,386 (GRCm39)		probably benign	Het
Pex5	T	C	6: 124,375,339 (GRCm39)	N524S	probably damaging	Het
Plppr1	A	T	4: 49,319,992 (GRCm39)	Y206F	possibly damaging	Het
Polr3e	A	G	7: 120,539,519 (GRCm39)		probably benign	Het
Rhbdd1	A	G	1: 82,318,555 (GRCm39)		probably benign	Het
Rims4	A	T	2: 163,707,702 (GRCm39)		probably benign	Het
Smarcal1	A	T	1: 72,655,679 (GRCm39)	K653*	probably null	Het
Stt3b	C	T	9: 115,105,767 (GRCm39)		probably null	Het
Syt8	C	A	7: 141,993,877 (GRCm39)	L343M	probably damaging	Het
Tbc1d23	G	A	16: 57,009,615 (GRCm39)		probably benign	Het
Tfec	T	C	6: 16,845,465 (GRCm39)	I65V	probably damaging	Het
Tmem236	A	T	2: 14,223,716 (GRCm39)	Q168H	probably benign	Het
Tmem25	G	A	9: 44,709,568 (GRCm39)	R78*	probably null	Het
Tnip2	A	G	5: 34,654,212 (GRCm39)	V288A	probably benign	Het
Ttc1	G	A	11: 43,621,291 (GRCm39)		probably benign	Het
Tubb4b-ps1	A	C	5: 7,229,843 (GRCm39)		probably benign	Het
Tut1	T	C	19: 8,931,364 (GRCm39)	C21R	probably damaging	Het
Ubr4	C	A	4: 139,156,913 (GRCm39)	Q2313K	probably damaging	Het
Unc5b	T	C	10: 60,615,966 (GRCm39)	E119G	probably damaging	Het
Vmn1r23	T	A	6: 57,903,475 (GRCm39)	Q101L	probably damaging	Het
Vmn2r77	A	G	7: 86,450,678 (GRCm39)	D188G	probably benign	Het
Vmn2r79	A	G	7: 86,686,290 (GRCm39)	E557G	possibly damaging	Het
Zfp738	A	G	13: 67,818,096 (GRCm39)	F632L	possibly damaging	Het

Other mutations in Ankrd60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0060:Ankrd60	UTSW	2	173,414,406 (GRCm39)	start codon destroyed	probably null	1.00
R0060:Ankrd60	UTSW	2	173,414,406 (GRCm39)	start codon destroyed	probably null	1.00
R0569:Ankrd60	UTSW	2	173,412,859 (GRCm39)	missense	probably damaging	1.00
R0587:Ankrd60	UTSW	2	173,410,644 (GRCm39)	missense	possibly damaging	0.83
R2941:Ankrd60	UTSW	2	173,410,674 (GRCm39)	missense	probably damaging	1.00
R4549:Ankrd60	UTSW	2	173,414,395 (GRCm39)	missense	possibly damaging	0.89
R5322:Ankrd60	UTSW	2	173,410,610 (GRCm39)	missense	possibly damaging	0.76
R5763:Ankrd60	UTSW	2	173,419,882 (GRCm39)	frame shift	probably null
R5786:Ankrd60	UTSW	2	173,419,882 (GRCm39)	frame shift	probably null
R5787:Ankrd60	UTSW	2	173,419,882 (GRCm39)	frame shift	probably null
R5788:Ankrd60	UTSW	2	173,419,882 (GRCm39)	frame shift	probably null
R7527:Ankrd60	UTSW	2	173,419,966 (GRCm39)	missense	probably benign	0.00
R7618:Ankrd60	UTSW	2	173,412,834 (GRCm39)	splice site	probably null
R7756:Ankrd60	UTSW	2	173,410,562 (GRCm39)	makesense	probably null
R7758:Ankrd60	UTSW	2	173,410,562 (GRCm39)	makesense	probably null
R8039:Ankrd60	UTSW	2	173,414,284 (GRCm39)	critical splice donor site	probably null
R9345:Ankrd60	UTSW	2	173,410,610 (GRCm39)	missense	possibly damaging	0.76
R9573:Ankrd60	UTSW	2	173,410,791 (GRCm39)	missense	possibly damaging	0.58
R9604:Ankrd60	UTSW	2	173,412,987 (GRCm39)	missense	probably benign	0.14

Posted On

2014-05-07