Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01660:Ankub1'

103137

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankub1

Ensembl Gene

ENSMUSG00000074591

Gene Name

ankyrin repeat and ubiquitin domain containing 1

Synonyms

LOC242037, Gm410

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01660

Quality Score

Status

Chromosome

Chromosomal Location

57574843-57599958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57597817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 51 (Y51F)

Ref Sequence

ENSEMBL: ENSMUSP00000142589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099091] [ENSMUST00000197088] [ENSMUST00000200665]

AlphaFold

Q3UUE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099091
AA Change: Y51F

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096689
Gene: ENSMUSG00000074591
AA Change: Y51F

Domain	Start	End	E-Value	Type
Blast:UBQ	1	78	3e-41	BLAST
SCOP:d1euvb_	1	78	3e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197088
AA Change: Y51F

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: Y51F

Domain	Start	End	E-Value	Type
Blast:UBQ	1	78	5e-40	BLAST
ANK	191	220	6.7e-2	SMART
Blast:ANK	239	268	5e-12	BLAST
ANK	273	303	2.6e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200665

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
Acta2	A	G	19: 34,229,191 (GRCm39)	I66T	probably damaging	Het
Actl11	T	C	9: 107,806,247 (GRCm39)	V190A	probably benign	Het
Armh3	A	T	19: 45,928,915 (GRCm39)	L393H	probably damaging	Het
Ccdc63	G	A	5: 122,249,027 (GRCm39)	S434L	possibly damaging	Het
Cdan1	T	A	2: 120,556,134 (GRCm39)	I711F	possibly damaging	Het
Cep170b	C	A	12: 112,710,594 (GRCm39)	N1474K	probably damaging	Het
Cyp2c40	A	G	19: 39,775,254 (GRCm39)	S333P	probably damaging	Het
Dars1	A	G	1: 128,343,081 (GRCm39)		probably benign	Het
Dock3	T	A	9: 106,909,563 (GRCm39)		probably benign	Het
Dsp	A	G	13: 38,360,471 (GRCm39)	I359V	possibly damaging	Het
Fut8	T	G	12: 77,497,032 (GRCm39)	L414*	probably null	Het
Gja1	A	G	10: 56,264,544 (GRCm39)	Y301C	probably damaging	Het
Glipr1l1	T	C	10: 111,908,184 (GRCm39)	S161P	probably damaging	Het
Gpat4	A	T	8: 23,665,354 (GRCm39)		probably null	Het
Grhl1	T	A	12: 24,658,577 (GRCm39)		probably null	Het
Hectd3	T	C	4: 116,853,569 (GRCm39)	V181A	possibly damaging	Het
Htr2a	T	A	14: 74,943,194 (GRCm39)	I258N	probably damaging	Het
Hyou1	T	A	9: 44,292,414 (GRCm39)	D83E	possibly damaging	Het
Myh10	T	A	11: 68,676,715 (GRCm39)	L862Q	probably benign	Het
Nkx2-2	T	C	2: 147,027,833 (GRCm39)	S36G	probably benign	Het
Nsun2	T	A	13: 69,771,368 (GRCm39)	V326E	probably benign	Het
Nuak2	T	C	1: 132,259,308 (GRCm39)	V362A	probably benign	Het
Nyap2	G	A	1: 81,169,642 (GRCm39)	C133Y	probably damaging	Het
Oas2	T	C	5: 120,879,288 (GRCm39)	T351A	probably benign	Het
Or11m3	C	T	15: 98,396,076 (GRCm39)	T241I	probably damaging	Het
Or5m13	T	C	2: 85,748,908 (GRCm39)	I213T	probably benign	Het
Pde4d	A	T	13: 110,074,606 (GRCm39)	I404F	probably damaging	Het
Pga5	A	G	19: 10,652,456 (GRCm39)	S95P	probably damaging	Het
Pitpnm2	A	T	5: 124,261,257 (GRCm39)	D947E	probably damaging	Het
Pla2g10	C	T	16: 13,545,950 (GRCm39)	R28H	probably damaging	Het
Prlr	A	G	15: 10,317,676 (GRCm39)	D84G	probably damaging	Het
Rbm15b	C	T	9: 106,762,908 (GRCm39)	G420D	probably damaging	Het
Tbcd	A	G	11: 121,496,153 (GRCm39)	T1063A	probably benign	Het
Tmc2	C	T	2: 130,102,144 (GRCm39)	Q770*	probably null	Het
Tpo	T	C	12: 30,169,399 (GRCm39)		probably benign	Het
Vim	A	G	2: 13,579,624 (GRCm39)	N128D	probably damaging	Het
Vmn1r21	A	T	6: 57,821,222 (GRCm39)	I74N	probably damaging	Het
Vmn2r52	A	C	7: 9,893,107 (GRCm39)	I677M	probably damaging	Het

Other mutations in Ankub1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03137:Ankub1	APN	3	57,597,778 (GRCm39)	missense	probably damaging	1.00
R0506:Ankub1	UTSW	3	57,597,796 (GRCm39)	missense	probably damaging	0.97
R0892:Ankub1	UTSW	3	57,597,800 (GRCm39)	missense	probably benign	0.24
R2073:Ankub1	UTSW	3	57,599,713 (GRCm39)	missense	possibly damaging	0.68
R2104:Ankub1	UTSW	3	57,580,296 (GRCm39)	nonsense	probably null
R4869:Ankub1	UTSW	3	57,597,751 (GRCm39)	missense	probably damaging	1.00
R5714:Ankub1	UTSW	3	57,580,258 (GRCm39)	missense	probably benign	0.41
R6229:Ankub1	UTSW	3	57,572,528 (GRCm39)	missense	probably benign	0.00
R6929:Ankub1	UTSW	3	57,572,854 (GRCm39)	nonsense	probably null
R7086:Ankub1	UTSW	3	57,597,746 (GRCm39)	missense	probably damaging	0.99
R7200:Ankub1	UTSW	3	57,580,406 (GRCm39)	missense	probably benign	0.00
R7290:Ankub1	UTSW	3	57,580,345 (GRCm39)	missense	probably damaging	1.00
R7305:Ankub1	UTSW	3	57,599,938 (GRCm39)	start gained	probably benign
R7336:Ankub1	UTSW	3	57,573,108 (GRCm39)	missense	probably benign	0.00
R7407:Ankub1	UTSW	3	57,572,624 (GRCm39)	missense	probably benign
R7566:Ankub1	UTSW	3	57,573,039 (GRCm39)	nonsense	probably null
R7569:Ankub1	UTSW	3	57,573,039 (GRCm39)	nonsense	probably null
R7872:Ankub1	UTSW	3	57,572,807 (GRCm39)	missense	probably damaging	1.00
R8177:Ankub1	UTSW	3	57,597,837 (GRCm39)	missense	possibly damaging	0.82
R8734:Ankub1	UTSW	3	57,599,706 (GRCm39)	missense	probably benign	0.15
R8774:Ankub1	UTSW	3	57,597,802 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Ankub1	UTSW	3	57,597,802 (GRCm39)	missense	probably damaging	1.00
R8973:Ankub1	UTSW	3	57,572,932 (GRCm39)	missense	possibly damaging	0.94

Posted On

2014-01-21