Mutagenetix > Incidental Mutations

Incidental Mutation 'R6229:Ankub1'

504537

Institutional Source

Beutler Lab

Gene Symbol

Ankub1

Ensembl Gene

ENSMUSG00000074591

Gene Name

ankrin repeat and ubiquitin domain containing 1

Synonyms

Gm410, LOC242037

MMRRC Submission

044358-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57657393-57692799 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57665107 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 398 (D398G)

Ref Sequence

ENSEMBL: ENSMUSP00000142589 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099091

SMART Domains

Protein: ENSMUSP00000096689
Gene: ENSMUSG00000074591

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: D398G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: D398G

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: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	A	1: 120,171,483		probably null	Het
Adamts6	G	A	13: 104,347,392		probably null	Het
Add3	C	A	19: 53,234,846	A343D	probably benign	Het
Apbb1	C	T	7: 105,573,730	A225T	probably damaging	Het
Apbb1	C	A	7: 105,573,731	W224C	probably damaging	Het
Arhgef40	A	T	14: 51,990,090	Q431L	probably benign	Het
Calm4	A	G	13: 3,838,038	D48G	possibly damaging	Het
Ccdc18	A	T	5: 108,171,618	I502L	probably benign	Het
Cftr	T	C	6: 18,220,684	S185P	probably damaging	Het
Chd2	C	A	7: 73,451,723	K1418N	possibly damaging	Het
Cmya5	A	C	13: 93,093,306	V1758G	probably benign	Het
Cpsf4l	T	C	11: 113,708,854	K35R	possibly damaging	Het
Cyp2c68	A	T	19: 39,739,178	V119E	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dnah3	G	T	7: 119,965,488	Q2651K	probably benign	Het
Eif4g2	T	C	7: 111,077,713		probably null	Het
Enc1	A	G	13: 97,245,491	R170G	probably benign	Het
Enpp2	T	C	15: 54,877,832	R357G	probably damaging	Het
Epb41l2	A	G	10: 25,499,836	K58E	possibly damaging	Het
Fis1	A	G	5: 136,965,674		probably null	Het
Fmo9	A	C	1: 166,677,557	M89R	possibly damaging	Het
Gm13119	T	C	4: 144,363,629	M413T	probably benign	Het
Gm6096	A	C	7: 34,251,251	I72L	possibly damaging	Het
Golga5	G	A	12: 102,484,481	M464I	probably benign	Het
Got1l1	T	C	8: 27,198,436		probably null	Het
Igfbpl1	A	G	4: 45,813,517	Y233H	probably damaging	Het
Il18r1	T	C	1: 40,474,763	I43T	probably benign	Het
Ints8	T	C	4: 11,252,891	N64D	probably damaging	Het
Kalrn	A	G	16: 34,055,071	S44P	probably damaging	Het
Kif13b	G	T	14: 64,738,567	G444W	probably damaging	Het
Lmo1	A	G	7: 109,143,625	C13R	probably damaging	Het
Lrfn2	T	A	17: 49,097,132	M761K	possibly damaging	Het
Lrrd1	T	C	5: 3,863,887	I719T	probably damaging	Het
Madd	A	T	2: 91,143,670	V1423E	probably damaging	Het
Mbnl1	T	A	3: 60,621,328		probably null	Het
Mrps28	T	C	3: 8,900,037	D114G	probably damaging	Het
Muc6	T	A	7: 141,640,525	M1412L	probably benign	Het
Myf6	T	C	10: 107,494,419	K96E	possibly damaging	Het
Myrf	A	G	19: 10,219,798	V462A	probably benign	Het
Nbeal1	T	C	1: 60,248,365	S923P	possibly damaging	Het
Nckap1l	T	C	15: 103,473,122	L430P	possibly damaging	Het
Nfatc2ip	C	T	7: 126,395,941		probably null	Het
Olfr1145	G	T	2: 87,810,087	C89F	probably damaging	Het
Olfr1362	T	C	13: 21,611,649	I107V	probably benign	Het
Olfr739	A	G	14: 50,425,205	R229G	probably benign	Het
Olfr853	T	A	9: 19,537,718	I71F	possibly damaging	Het
Plin2	A	G	4: 86,668,666	V5A	probably benign	Het
Ptprm	T	A	17: 66,688,300	D1311V	probably damaging	Het
Recql5	A	T	11: 115,930,714	I72N	probably damaging	Het
Sall2	A	T	14: 52,313,191	M847K	probably benign	Het
Slc23a1	T	C	18: 35,619,524	R567G	probably benign	Het
Slc28a1	G	A	7: 81,125,005	R200H	probably benign	Het
Smc4	T	A	3: 69,030,247	Y843*	probably null	Het
Syne2	C	A	12: 75,921,220	Q915K	probably benign	Het
Tas2r131	T	A	6: 132,957,022	I275F	probably damaging	Het
Tcf20	T	C	15: 82,854,880	H790R	probably damaging	Het
Tm7sf3	A	G	6: 146,613,389	F310S	possibly damaging	Het
Tmem9b	T	A	7: 109,745,420		probably null	Het
Tnfaip8	A	G	18: 50,051,675		probably benign	Het
Top2b	T	G	14: 16,409,838	L835R	probably damaging	Het
Trappc8	A	T	18: 20,870,745	S209T	probably benign	Het
Ttc26	T	A	6: 38,395,040	N188K	probably benign	Het
Uap1	C	T	1: 170,166,733	R58Q	probably benign	Het
Upk3bl	A	G	5: 136,064,061		probably null	Het
Usp34	A	G	11: 23,446,778	H596R	probably damaging	Het
Vmn1r181	C	T	7: 23,984,155	A15V	probably damaging	Het
Vmn2r54	T	A	7: 12,631,956	K350N	probably benign	Het
Vmn2r89	A	G	14: 51,455,721	H176R	probably benign	Het
Vwa7	A	G	17: 35,024,265	R640G	probably benign	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
R0892:Ankub1	UTSW	3	57690379	missense	probably benign	0.24
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
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

PCR Primer
(F):5'- GGGTGTGCATAATCCACTCTTG -3'
(R):5'- GGTGCCATAAAAGCCAGCTTG -3'

Sequencing Primer
(F):5'- GTGCATAATCCACTCTTGAAACGGG -3'
(R):5'- GTCTCTGGGGCAAAAGTCG -3'

Posted On

2018-02-28