Mutagenetix > Incidental Mutation

Incidental Mutation 'R7407:Ankub1'

574778

Institutional Source

Beutler Lab

Gene Symbol

Ankub1

Ensembl Gene

ENSMUSG00000074591

Gene Name

ankyrin repeat and ubiquitin domain containing 1

Synonyms

LOC242037, Gm410

MMRRC Submission

045488-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57574843-57599958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57572624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 366 (E366G)

Ref Sequence

ENSEMBL: ENSMUSP00000142589 (fasta)

Gene Model

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

AlphaFold

Q3UUE9

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: E366G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: E366G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405O20Rik	A	G	7: 50,249,626 (GRCm39)	N220S	probably damaging	Het
Abcb8	T	C	5: 24,605,674 (GRCm39)	V186A	probably benign	Het
Actbl2	A	T	13: 111,392,752 (GRCm39)	E362D	probably damaging	Het
Adamts17	C	A	7: 66,697,304 (GRCm39)	Y28*	probably null	Het
Agtr1b	T	C	3: 20,369,895 (GRCm39)	D237G	possibly damaging	Het
Amer2	A	G	14: 60,616,291 (GRCm39)	D162G	probably damaging	Het
Ap5z1	A	G	5: 142,452,330 (GRCm39)	I88V	probably benign	Het
Ccdc186	T	C	19: 56,801,817 (GRCm39)	N100S	probably benign	Het
Cldn19	A	G	4: 119,112,882 (GRCm39)	D38G	probably damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Deaf1	G	A	7: 140,877,492 (GRCm39)	A545V	possibly damaging	Het
Dicer1	G	T	12: 104,688,610 (GRCm39)	Y322*	probably null	Het
Dnajb7	G	T	15: 81,291,827 (GRCm39)	T170K	possibly damaging	Het
Flrt2	A	T	12: 95,746,074 (GRCm39)	E137D	probably damaging	Het
Galnt12	T	C	4: 47,120,362 (GRCm39)	F482L	probably damaging	Het
Gm32742	A	G	9: 51,067,974 (GRCm39)	V336A	probably damaging	Het
Gpatch8	G	A	11: 102,370,656 (GRCm39)	R961W	unknown	Het
Hcn4	A	G	9: 58,766,653 (GRCm39)	E738G	unknown	Het
Kdelr3	A	G	15: 79,409,039 (GRCm39)	Y76C	probably damaging	Het
Krt77	T	C	15: 101,768,530 (GRCm39)	S494G	unknown	Het
Letmd1	G	T	15: 100,367,119 (GRCm39)	A39S	probably benign	Het
Lrrc7	G	A	3: 157,840,878 (GRCm39)	R1387W	probably damaging	Het
Meltf	T	C	16: 31,713,553 (GRCm39)	Y599H	probably damaging	Het
Mybpc1	T	A	10: 88,385,209 (GRCm39)	I477L	probably damaging	Het
Nf1	A	G	11: 79,338,969 (GRCm39)	D1174G	probably damaging	Het
Or2t6	T	A	14: 14,175,402 (GRCm38)	I227L	probably benign	Het
Or8b44	T	A	9: 38,410,800 (GRCm39)	Y278*	probably null	Het
Palld	G	T	8: 61,968,975 (GRCm39)	S1283*	probably null	Het
Pcmtd2	T	C	2: 181,488,398 (GRCm39)	V183A	possibly damaging	Het
Pcsk5	T	A	19: 17,652,880 (GRCm39)	I269F	probably damaging	Het
Pkd1	T	C	17: 24,813,568 (GRCm39)	L4036P	probably damaging	Het
Pkhd1l1	A	G	15: 44,458,407 (GRCm39)	N4151S	possibly damaging	Het
Rcor3	C	T	1: 191,785,972 (GRCm39)	S422N	probably benign	Het
Rhag	A	G	17: 41,142,225 (GRCm39)	I223V	possibly damaging	Het
Ssbp4	A	G	8: 71,051,672 (GRCm39)	Y231H	probably damaging	Het
Syce1l	C	T	8: 114,381,770 (GRCm39)	Q237*	probably null	Het
Tenm4	T	C	7: 96,423,194 (GRCm39)	V663A	possibly damaging	Het
Timd6	A	G	11: 46,468,217 (GRCm39)	Y97C	probably damaging	Het
Trim6	T	C	7: 103,875,108 (GRCm39)	I115T	probably damaging	Het
Vinac1	A	G	2: 128,880,729 (GRCm39)	I399T		Het
Vmn1r25	T	A	6: 57,956,044 (GRCm39)	T82S	possibly damaging	Het
Vmn2r28	A	G	7: 5,484,308 (GRCm39)	S631P	probably damaging	Het
Xpo1	T	A	11: 23,235,823 (GRCm39)	V637E	probably damaging	Het
Xpo6	A	T	7: 125,770,224 (GRCm39)	M62K	probably damaging	Het
Ypel5	A	G	17: 73,153,374 (GRCm39)	N26S	possibly damaging	Het
Zbtb24	C	A	10: 41,340,775 (GRCm39)	Q624K	possibly damaging	Het
Zfp629	T	C	7: 127,209,415 (GRCm39)	D798G	probably benign	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	probably damaging	Het

Other mutations in Ankub1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01660:Ankub1	APN	3	57,597,817 (GRCm39)	missense	possibly damaging	0.93
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTTTTCTAGCTGGGGCAGAC -3'
(R):5'- GTCCACGGTGTCTTTTCTAAAAC -3'

Sequencing Primer
(F):5'- CTGGTTGTCTTGTTGATGACTTCGC -3'
(R):5'- AAACTTTCAGTCCCGATGTGG -3'

Posted On

2019-10-07