Mutagenetix > Incidental Mutations

Incidental Mutation 'R7618:Ankrd60'

628168

Institutional Source

Beutler Lab

Gene Symbol

Ankrd60

Ensembl Gene

ENSMUSG00000027517

Gene Name

ankyrin repeat domain 60

Synonyms

1700019A24Rik, 1700030G11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7618 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173568666-173578365 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 173571041 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113291 (fasta)

Gene Model

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

AlphaFold

A2AMD2

Predicted Effect

probably null
Transcript: ENSMUST00000109112

SMART Domains

Protein: ENSMUSP00000104740
Gene: ENSMUSG00000027517

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

Predicted Effect

probably null
Transcript: ENSMUST00000119453

SMART Domains

Protein: ENSMUSP00000113291
Gene: ENSMUSG00000027517

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,584,550	C602W	possibly damaging	Het
4930432K21Rik	A	G	8: 84,166,870	Q222R	possibly damaging	Het
Akap11	T	C	14: 78,498,860	D1830G		Het
Alms1	A	G	6: 85,678,417	N2846S	probably benign	Het
Amt	A	C	9: 108,299,878	E228D	probably damaging	Het
Ankar	T	C	1: 72,675,766	M618V	probably benign	Het
Aoc1	A	G	6: 48,906,386	T399A	possibly damaging	Het
Aqp11	T	A	7: 97,737,666	I108F	probably benign	Het
Arfgef3	G	T	10: 18,646,281	Q666K	probably damaging	Het
Bin2	T	A	15: 100,645,013	R430W	probably damaging	Het
Cdh18	T	A	15: 23,366,970	V254D	probably damaging	Het
Cfap46	A	T	7: 139,603,239	S159R		Het
Clnk	A	T	5: 38,736,355	S220T	probably benign	Het
Col19a1	G	T	1: 24,322,084	H608Q	probably benign	Het
Cplx1	C	T	5: 108,525,529	E24K	possibly damaging	Het
Dnah3	A	T	7: 119,978,378	L2031Q	probably damaging	Het
Dok1	T	C	6: 83,032,891	E79G	probably benign	Het
Eif4g3	T	C	4: 138,171,118	S902P	probably damaging	Het
Emilin3	T	A	2: 160,909,279	E183D	probably benign	Het
Fam124b	G	A	1: 80,213,837		probably benign	Het
Gm9195	T	C	14: 72,452,835	Y1816C	probably damaging	Het
Ighv5-9-1	T	A	12: 113,736,199	I98F	probably damaging	Het
Il31ra	G	A	13: 112,551,980	P21L	possibly damaging	Het
Kat6a	A	G	8: 22,862,562	I121V	possibly damaging	Het
Kif11	T	C	19: 37,411,560	W832R	probably benign	Het
Klhl9	T	C	4: 88,720,535	T490A	possibly damaging	Het
Lars	G	T	18: 42,244,891	A153E	probably benign	Het
Muc5b	A	T	7: 141,867,597	I4275L	probably benign	Het
Myo10	T	A	15: 25,726,475	C294*	probably null	Het
Nceh1	T	A	3: 27,183,217		probably null	Het
Ncf1	T	A	5: 134,227,267	T93S	probably benign	Het
Nfatc2	G	A	2: 168,534,999	R545C	probably damaging	Het
Nos1	C	T	5: 117,903,944	P545S	probably benign	Het
Ogfod3	C	A	11: 121,202,978	V69F	probably damaging	Het
Olfr1197	A	T	2: 88,728,836	Y254*	probably null	Het
Phf12	A	G	11: 78,026,134	N272S	unknown	Het
Prkcz	T	A	4: 155,262,482	I581F	probably damaging	Het
Rasgrf2	T	C	13: 91,987,966	H8R		Het
Rb1cc1	T	A	1: 6,265,558		probably null	Het
Rcor2	T	A	19: 7,271,046	M186K	possibly damaging	Het
Rnf111	C	A	9: 70,503,332		probably benign	Het
Serinc3	A	T	2: 163,630,969	F247Y	possibly damaging	Het
Serpina1c	T	A	12: 103,898,770	I206F	probably damaging	Het
Slc25a10	G	A	11: 120,496,971		probably null	Het
Syne2	T	G	12: 75,945,334	H1993Q	probably benign	Het
Tap1	A	G	17: 34,188,238	Y120C	possibly damaging	Het
Tex30	A	T	1: 44,088,250		probably null	Het
Ube2ql1	G	T	13: 69,738,947	Q132K	probably benign	Het
Unc13d	T	C	11: 116,066,721	N803D	probably damaging	Het
Vcan	G	A	13: 89,692,223	S1734F	probably damaging	Het
Wdfy4	T	C	14: 32,985,739	Y2630C		Het
Wdr93	A	G	7: 79,785,726	T668A	probably benign	Het

Other mutations in Ankrd60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01980:Ankrd60	APN	2	173571203	missense	probably benign	0.33
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
R7527:Ankrd60	UTSW	2	173578173	missense	probably benign	0.00
R7756:Ankrd60	UTSW	2	173568769	makesense	probably null
R7758:Ankrd60	UTSW	2	173568769	makesense	probably null
R8039:Ankrd60	UTSW	2	173572491	critical splice donor site	probably null
R9345:Ankrd60	UTSW	2	173568817	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- TCCACAGATCTGGCCTAGAGAAG -3'
(R):5'- ATGCAGGTCACGCTCTAGAG -3'

Sequencing Primer
(F):5'- CCTAGAGAAGTGCAAGTCCCTG -3'
(R):5'- CTAGAGGCAGCCTTGATGTATTCC -3'

Posted On

2020-01-28