Mutagenetix > Incidental Mutation

Incidental Mutation 'R5714:Ankub1'

451035

Institutional Source

Beutler Lab

Gene Symbol

Ankub1

Ensembl Gene

ENSMUSG00000074591

Gene Name

ankyrin repeat and ubiquitin domain containing 1

Synonyms

LOC242037, Gm410

MMRRC Submission

043186-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57574843-57599958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57580258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 133 (T133M)

Ref Sequence

ENSEMBL: ENSMUSP00000142589 (fasta)

Gene Model

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

AlphaFold

Q3UUE9

Predicted Effect

probably benign
Transcript: ENSMUST00000099091
AA Change: T133M

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096689
Gene: ENSMUSG00000074591
AA Change: T133M

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: T133M

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: T133M

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	G	T	18: 65,438,532 (GRCm39)	Q1421K	possibly damaging	Het
Bcar3	G	A	3: 122,248,736 (GRCm39)	V112M	possibly damaging	Het
Cacna1s	A	G	1: 136,039,804 (GRCm39)	K1476R	probably benign	Het
Cdc42ep1	C	A	15: 78,733,977 (GRCm39)	A359E	possibly damaging	Het
Cemip	T	A	7: 83,624,387 (GRCm39)	D483V	probably damaging	Het
Cyp4f39	G	A	17: 32,700,799 (GRCm39)	R156H	probably damaging	Het
Dpys	T	A	15: 39,720,553 (GRCm39)	H69L	probably damaging	Het
Fbxl21	A	G	13: 56,674,885 (GRCm39)	I79V	probably benign	Het
Fgf9	T	C	14: 58,347,022 (GRCm39)	L205P	probably damaging	Het
Fkbp14	A	G	6: 54,562,835 (GRCm39)	F144L	probably damaging	Het
Flnb	A	C	14: 7,929,073 (GRCm38)	D1934A	probably damaging	Het
Garre1	G	A	7: 33,939,941 (GRCm39)	Q717*	probably null	Het
Glul	T	C	1: 153,782,243 (GRCm39)		probably benign	Het
Helz	T	A	11: 107,517,347 (GRCm39)		probably null	Het
Kap	A	G	6: 133,828,956 (GRCm39)	Y42H	probably benign	Het
Kcnh8	T	C	17: 53,285,150 (GRCm39)	V1040A	probably benign	Het
Kptn	A	G	7: 15,854,683 (GRCm39)		probably null	Het
Lypd3	A	G	7: 24,338,494 (GRCm39)	T182A	possibly damaging	Het
Mcm5	A	C	8: 75,847,538 (GRCm39)	D445A	probably damaging	Het
Mios	T	A	6: 8,215,434 (GRCm39)	I210K	probably damaging	Het
Nat8f2	A	G	6: 85,844,891 (GRCm39)	V157A	probably benign	Het
Or1e16	T	A	11: 73,286,187 (GRCm39)		probably null	Het
Pard3b	C	A	1: 62,677,075 (GRCm39)	A1140E	probably null	Het
Pcnt	A	T	10: 76,256,325 (GRCm39)	D638E	probably damaging	Het
Pdgfra	T	C	5: 75,346,673 (GRCm39)	I834T	probably damaging	Het
Phyhd1	T	A	2: 30,169,994 (GRCm39)	L162H	probably damaging	Het
Polg	C	A	7: 79,101,739 (GRCm39)	A1026S	possibly damaging	Het
Prl7c1	A	T	13: 27,962,949 (GRCm39)	L18*	probably null	Het
Rars2	T	A	4: 34,645,779 (GRCm39)	M232K	probably benign	Het
Rtl1	A	G	12: 109,560,114 (GRCm39)	V575A	probably damaging	Het
Slc18b1	A	T	10: 23,674,664 (GRCm39)	T40S	probably benign	Het
Slc22a19	T	C	19: 7,688,387 (GRCm39)	T58A	probably damaging	Het
Slc27a6	A	T	18: 58,731,625 (GRCm39)	E325V	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Srd5a3	T	A	5: 76,301,413 (GRCm39)	F214Y	probably benign	Het
Tgfbr2	A	T	9: 116,004,092 (GRCm39)	L5Q	probably damaging	Het
Tmem94	C	A	11: 115,684,016 (GRCm39)	Q779K	probably benign	Het
Ttn	G	A	2: 76,652,837 (GRCm39)	P216S	probably benign	Het
Ush2a	A	T	1: 188,132,454 (GRCm39)	Q892L	probably benign	Het
Vgll4	A	T	6: 114,867,737 (GRCm39)	M38K	possibly damaging	Het
Vmn2r109	A	G	17: 20,773,121 (GRCm39)	I500T	probably damaging	Het
Vps33a	T	C	5: 123,707,563 (GRCm39)	I135V	probably benign	Het
Wscd1	T	C	11: 71,675,261 (GRCm39)		probably null	Het
Zfp457	C	A	13: 67,444,490 (GRCm39)	M4I	possibly damaging	Het
Zfp532	G	A	18: 65,756,606 (GRCm39)	G180R	possibly damaging	Het
Zfp97	A	G	17: 17,365,871 (GRCm39)	T457A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GGCCAGGGAGAGTTATTACTG -3'
(R):5'- TAACAACCCTCGGACAGTGAG -3'

Sequencing Primer
(F):5'- GCCAGGGAGAGTTATTACTGTACATC -3'
(R):5'- ACAGTGAGTGTCCCCTTTTC -3'

Posted On

2017-01-03