Mutagenetix > Incidental Mutation

Incidental Mutation 'R7872:Ankub1'

608161

Institutional Source

Beutler Lab

Gene Symbol

Ankub1

Ensembl Gene

ENSMUSG00000074591

Gene Name

ankyrin repeat and ubiquitin domain containing 1

Synonyms

LOC242037, Gm410

MMRRC Submission

045924-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7872 (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 A at 57572807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 305 (K305I)

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 damaging
Transcript: ENSMUST00000197088
AA Change: K305I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: K305I

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,220,839 (GRCm39)	D290N	probably damaging	Het
Adam18	T	C	8: 25,101,116 (GRCm39)	D682G	probably benign	Het
Ankrd46	A	G	15: 36,485,989 (GRCm39)	V88A	possibly damaging	Het
Atrn	T	A	2: 130,812,147 (GRCm39)		probably null	Het
Bambi	A	T	18: 3,511,406 (GRCm39)	T76S	probably benign	Het
Cacna1a	T	A	8: 85,310,283 (GRCm39)	V1447E	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Clcn2	A	G	16: 20,527,210 (GRCm39)	M629T	probably damaging	Het
Clcn4	T	C	7: 7,290,780 (GRCm39)	N673S	probably benign	Het
Col20a1	T	C	2: 180,628,371 (GRCm39)	F15S	probably benign	Het
Col2a1	G	A	15: 97,898,458 (GRCm39)	Q39*	probably null	Het
Creb3	A	G	4: 43,563,332 (GRCm39)	E119G	probably benign	Het
Dnah5	A	C	15: 28,245,830 (GRCm39)	D556A	probably damaging	Het
Edar	C	T	10: 58,446,348 (GRCm39)	M192I	possibly damaging	Het
Fam91a1	A	G	15: 58,320,209 (GRCm39)	M634V	probably benign	Het
Fbxo10	C	T	4: 45,051,699 (GRCm39)	V471I	not run	Het
Fer1l5	T	C	1: 36,460,967 (GRCm39)	F2032L	probably benign	Het
Gm5150	A	C	3: 16,060,485 (GRCm39)	M1R	probably null	Het
Grin1	T	C	2: 25,188,202 (GRCm39)	E509G	probably benign	Het
Igkv10-94	C	T	6: 68,681,913 (GRCm39)		probably benign	Het
Il18bp	A	G	7: 101,666,002 (GRCm39)	Y59H	possibly damaging	Het
Ints8	A	T	4: 11,254,062 (GRCm39)	C17S	probably benign	Het
Kcnmb1	T	C	11: 33,916,275 (GRCm39)	Y74H	probably damaging	Het
Kpna1	T	C	16: 35,843,565 (GRCm39)	V313A	probably benign	Het
Lrp4	C	T	2: 91,321,061 (GRCm39)	T1029I	possibly damaging	Het
Lrrc7	A	T	3: 158,059,099 (GRCm39)	C3S	probably damaging	Het
Lyst	C	A	13: 13,810,450 (GRCm39)	H707N	probably benign	Het
Map3k20	A	G	2: 72,202,098 (GRCm39)	K148R	probably damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mocs1	T	A	17: 49,746,561 (GRCm39)	I177N	probably damaging	Het
Muc5b	A	G	7: 141,399,850 (GRCm39)	D441G	unknown	Het
Ncoa1	T	C	12: 4,328,186 (GRCm39)	N884S	probably benign	Het
Or12j4	A	G	7: 140,046,696 (GRCm39)	N194S	probably damaging	Het
Or51a39	A	G	7: 102,363,389 (GRCm39)	V77A	probably benign	Het
Padi6	A	T	4: 140,455,073 (GRCm39)	F621L	probably damaging	Het
Pde8b	C	A	13: 95,223,347 (GRCm39)	M197I	possibly damaging	Het
Pear1	T	A	3: 87,659,522 (GRCm39)	I771L	probably benign	Het
Poli	A	G	18: 70,655,891 (GRCm39)	L281P	probably damaging	Het
Prdm12	T	C	2: 31,530,231 (GRCm39)	W41R	probably damaging	Het
Prkdc	T	G	16: 15,532,870 (GRCm39)	S1500A	probably benign	Het
Prune2	T	A	19: 17,096,798 (GRCm39)	H767Q	probably benign	Het
Rasgef1b	G	A	5: 99,382,403 (GRCm39)	Q196*	probably null	Het
Rnpc3	A	T	3: 113,416,096 (GRCm39)	L121*	probably null	Het
Rpp14	A	G	14: 8,083,724 (GRCm38)	M1V	probably null	Het
Ryr2	T	A	13: 11,610,610 (GRCm39)	D4072V	probably damaging	Het
Sgms1	T	C	19: 32,102,765 (GRCm39)	H314R	probably damaging	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Slc37a3	A	T	6: 39,324,244 (GRCm39)	Y335N	probably damaging	Het
Tcp11l1	A	T	2: 104,536,837 (GRCm39)	H9Q	probably benign	Het
Tnrc6a	T	A	7: 122,779,057 (GRCm39)	M1256K	probably damaging	Het
Trpc6	A	G	9: 8,609,910 (GRCm39)	N126S	probably damaging	Het
Tut4	T	G	4: 108,374,715 (GRCm39)	C933G	probably damaging	Het
Ubr4	T	C	4: 139,120,373 (GRCm39)	F266S	possibly damaging	Het
Uimc1	A	G	13: 55,217,550 (GRCm39)	V424A	possibly damaging	Het
Utrn	T	C	10: 12,573,873 (GRCm39)	I1066V	probably benign	Het
Vmn1r204	A	G	13: 22,740,404 (GRCm39)	T12A	probably benign	Het
Vmn1r57	T	A	7: 5,223,613 (GRCm39)	I46N	possibly damaging	Het
Vmn1r91	T	C	7: 19,835,839 (GRCm39)	Y253H	probably benign	Het
Vmn2r14	T	A	5: 109,369,219 (GRCm39)	H118L	probably benign	Het
Zfp775	A	G	6: 48,597,404 (GRCm39)	K426R	probably benign	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
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
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'- GCAGTTTGCCAGCTCTTGTC -3'
(R):5'- GTCTCTAACTGCCCGATTCACG -3'

Sequencing Primer
(F):5'- AGTTTGCCAGCTCTTGTCTTCAG -3'
(R):5'- GATTCACGCAGCCGCAGAAG -3'

Posted On

2019-12-20