Mutagenetix > Incidental Mutations

Incidental Mutation 'R0892:Ankub1'

83526

Institutional Source

Beutler Lab

Gene Symbol

Ankub1

Ensembl Gene

ENSMUSG00000074591

Gene Name

ankrin repeat and ubiquitin domain containing 1

Synonyms

Gm410, LOC242037

MMRRC Submission

039055-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0892 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57657393-57692799 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57690379 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 57 (R57G)

Ref Sequence

ENSEMBL: ENSMUSP00000096689 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099091
AA Change: R57G

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096689
Gene: ENSMUSG00000074591
AA Change: R57G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197088
AA Change: R57G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: R57G

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

1x: 99.5%
3x: 98.9%
10x: 97.5%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,382,248		probably null	Het
Abca13	T	A	11: 9,298,305	V2684E	probably benign	Het
Bcr	C	T	10: 75,125,063	A442V	probably benign	Het
Cd46	T	C	1: 195,082,612	T226A	possibly damaging	Het
Dmkn	C	T	7: 30,767,404	R114C	probably damaging	Het
Ell2	A	T	13: 75,763,639	N348I	probably damaging	Het
Epg5	T	A	18: 77,968,628	I830N	possibly damaging	Het
Gm15737	C	T	6: 92,879,740		probably benign	Het
Gpa33	A	G	1: 166,157,642	N182S	probably damaging	Het
Gpr37	A	T	6: 25,688,207	I297N	probably damaging	Het
Hpse2	T	C	19: 43,388,146	K56E	probably benign	Het
Lamc1	G	A	1: 153,332,254	H96Y	possibly damaging	Het
Mapre2	A	G	18: 23,858,143	N189S	probably benign	Het
Msmo1	T	A	8: 64,722,553	I148F	possibly damaging	Het
Myh6	T	C	14: 54,947,054	T1607A	probably benign	Het
Olfr1484	T	A	19: 13,585,517	V28D	probably damaging	Het
Oog2	A	T	4: 144,196,499	T445S	probably benign	Het
Plag1	G	A	4: 3,904,532	Q220*	probably null	Het
Pom121l2	A	G	13: 21,982,474	E305G	possibly damaging	Het
Sbsn	A	T	7: 30,754,819	Q50L	possibly damaging	Het
Slc25a42	A	G	8: 70,191,947	L34P	probably damaging	Het
Sptbn1	C	A	11: 30,142,201	R521S	probably damaging	Het
St14	A	T	9: 31,100,428	V394E	probably benign	Het
Tatdn3	T	C	1: 191,062,805	D18G	probably benign	Het
Trappc8	A	G	18: 20,831,608		probably null	Het

Other mutations in Ankub1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01660:Ankub1	APN	3	57690396	missense	possibly damaging	0.93
IGL03137:Ankub1	APN	3	57690357	missense	probably damaging	1.00
R0506:Ankub1	UTSW	3	57690375	missense	probably damaging	0.97
R2073:Ankub1	UTSW	3	57692292	missense	possibly damaging	0.68
R2104:Ankub1	UTSW	3	57672875	nonsense	probably null
R4869:Ankub1	UTSW	3	57690330	missense	probably damaging	1.00
R5714:Ankub1	UTSW	3	57672837	missense	probably benign	0.41
R6229:Ankub1	UTSW	3	57665107	missense	probably benign	0.00
R6929:Ankub1	UTSW	3	57665433	nonsense	probably null
R7086:Ankub1	UTSW	3	57690325	missense	probably damaging	0.99
R7200:Ankub1	UTSW	3	57672985	missense	probably benign	0.00
R7290:Ankub1	UTSW	3	57672924	missense	probably damaging	1.00
R7305:Ankub1	UTSW	3	57692517	start gained	probably benign
R7336:Ankub1	UTSW	3	57665687	missense	probably benign	0.00
R7407:Ankub1	UTSW	3	57665203	missense	probably benign
R7566:Ankub1	UTSW	3	57665618	nonsense	probably null
R7569:Ankub1	UTSW	3	57665618	nonsense	probably null
R7872:Ankub1	UTSW	3	57665386	missense	probably damaging	1.00
R8177:Ankub1	UTSW	3	57690416	missense	possibly damaging	0.82

Predicted Primers

Posted On

2013-11-08