Mutagenetix > Incidental Mutation

Incidental Mutation 'R0060:Ankrd60'

17231

Institutional Source

Beutler Lab

Gene Symbol

Ankrd60

Ensembl Gene

ENSMUSG00000027517

Gene Name

ankyrin repeat domain 60

Synonyms

1700030G11Rik, 1700019A24Rik

MMRRC Submission

038353-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0060 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

173410451-173420066 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 173414406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000104740 (fasta)

Gene Model

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

AlphaFold

A2AMD2

Predicted Effect

probably null
Transcript: ENSMUST00000109112
AA Change: M1K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104740
Gene: ENSMUSG00000027517
AA Change: M1K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119453
AA Change: M121K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113291
Gene: ENSMUSG00000027517
AA Change: M121K

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

Meta Mutation Damage Score

0.8771

Coding Region Coverage

1x: 90.4%
3x: 88.3%
10x: 83.8%
20x: 78.1%

Validation Efficiency

94% (74/79)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	C	11: 58,313,008 (GRCm39)		probably benign	Het
4930432E11Rik	A	G	7: 29,273,595 (GRCm39)		noncoding transcript	Het
A630091E08Rik	A	G	7: 98,192,875 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,961,306 (GRCm39)	T539A	probably damaging	Het
Adam34	A	T	8: 44,128,920 (GRCm39)		probably benign	Het
Cald1	T	C	6: 34,692,394 (GRCm39)		probably benign	Het
Capn7	T	C	14: 31,087,561 (GRCm39)		probably benign	Het
Cd109	G	A	9: 78,610,389 (GRCm39)	E1145K	probably damaging	Het
Celsr1	A	T	15: 85,806,399 (GRCm39)	V2353D	probably damaging	Het
Cep135	A	T	5: 76,769,197 (GRCm39)	I616F	probably benign	Het
Cep162	T	A	9: 87,119,878 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,804,372 (GRCm39)	D904N	probably damaging	Het
Cep85	T	C	4: 133,894,611 (GRCm39)	D65G	probably damaging	Het
Cfdp1	T	C	8: 112,566,986 (GRCm39)		probably benign	Het
Chl1	T	A	6: 103,688,019 (GRCm39)		probably benign	Het
Colec10	G	A	15: 54,302,542 (GRCm39)		probably benign	Het
Crxos	A	G	7: 15,632,448 (GRCm39)	T40A	possibly damaging	Het
Dnhd1	A	G	7: 105,317,721 (GRCm39)	D472G	probably damaging	Het
Dpp6	C	A	5: 27,803,817 (GRCm39)	N254K	probably damaging	Het
Eps8l3	T	C	3: 107,786,857 (GRCm39)	L11S	probably damaging	Het
Flad1	G	A	3: 89,309,552 (GRCm39)	R515*	probably null	Het
Fzd5	T	C	1: 64,774,835 (GRCm39)	T309A	probably benign	Het
Gm19685	T	C	17: 61,075,418 (GRCm39)			Het
Gsdme	A	G	6: 50,198,009 (GRCm39)	I317T	possibly damaging	Het
H2bc1	A	T	13: 24,117,928 (GRCm39)	I71N	possibly damaging	Het
Incenp	A	G	19: 9,862,823 (GRCm39)		probably benign	Het
Itgad	T	C	7: 127,802,158 (GRCm39)	S979P	probably damaging	Het
Kat2b	T	C	17: 53,961,571 (GRCm39)	V557A	probably damaging	Het
Lamc1	A	T	1: 153,117,614 (GRCm39)		probably benign	Het
Lgi4	G	A	7: 30,762,996 (GRCm39)	G157D	probably damaging	Het
Mga	T	C	2: 119,791,442 (GRCm39)		probably null	Het
Nubpl	T	C	12: 52,357,470 (GRCm39)		probably benign	Het
Or2b4	T	C	17: 38,116,891 (GRCm39)	L285P	probably damaging	Het
Or5be3	T	C	2: 86,864,118 (GRCm39)	Y149C	probably damaging	Het
Or8c20	C	T	9: 38,260,808 (GRCm39)	S143F	probably benign	Het
Peak1	A	T	9: 56,135,107 (GRCm39)	I78K	probably damaging	Het
Prune2	T	A	19: 16,981,097 (GRCm39)	F85I	probably damaging	Het
Rbm11	G	T	16: 75,395,667 (GRCm39)	D113Y	probably damaging	Het
Rif1	C	T	2: 52,001,129 (GRCm39)	R1528C	probably damaging	Het
Sema4d	A	G	13: 51,859,293 (GRCm39)		probably benign	Het
Slc30a4	T	A	2: 122,527,104 (GRCm39)	T381S	probably benign	Het
Slf2	G	T	19: 44,936,443 (GRCm39)	G696V	probably damaging	Het
Suv39h2	T	C	2: 3,465,953 (GRCm39)	Y134C	probably damaging	Het
Tmem273	C	A	14: 32,528,726 (GRCm39)		probably benign	Het
Tmem89	T	A	9: 108,744,485 (GRCm39)	V126D	probably damaging	Het
Trf	T	C	9: 103,098,121 (GRCm39)	T46A	probably benign	Het
Trmt6	C	T	2: 132,648,689 (GRCm39)	R415Q	possibly damaging	Het
Trp53bp1	T	C	2: 121,035,006 (GRCm39)	K1625E	probably damaging	Het
Usp6nl	T	A	2: 6,445,701 (GRCm39)	D559E	probably benign	Het
Wdr75	A	G	1: 45,855,777 (GRCm39)	D476G	probably benign	Het
Wrap53	A	C	11: 69,454,256 (GRCm39)	L261V	possibly damaging	Het
Zcchc4	T	A	5: 52,964,420 (GRCm39)	I292N	possibly damaging	Het

Other mutations in Ankrd60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01980:Ankrd60	APN	2	173,412,996 (GRCm39)	missense	probably benign	0.33
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

2013-01-20