Mutagenetix > Incidental Mutations

Incidental Mutation 'R7086:Ankub1'

549883

Institutional Source

Beutler Lab

Gene Symbol

Ankub1

Ensembl Gene

ENSMUSG00000074591

Gene Name

ankrin repeat and ubiquitin domain containing 1

Synonyms

Gm410, LOC242037

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57657393-57692799 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57690325 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 75 (C75S)

Ref Sequence

ENSEMBL: ENSMUSP00000096689 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099091
AA Change: C75S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096689
Gene: ENSMUSG00000074591
AA Change: C75S

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: C75S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: C75S

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: 99.1%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,161,319	H28R	probably damaging	Het
Adgre4	T	C	17: 55,820,649	I563T	probably benign	Het
Antxrl	G	A	14: 34,065,916	V299I	probably benign	Het
Arfgef2	T	A	2: 166,876,616	C1442S	probably damaging	Het
Atp13a3	T	C	16: 30,351,063	D399G	possibly damaging	Het
Cacna2d1	T	A	5: 16,349,416	Y666N	probably damaging	Het
Cenpo	C	T	12: 4,215,307	E238K	probably benign	Het
Chrng	C	A	1: 87,211,013	R455S	probably benign	Het
Cluh	T	A	11: 74,667,340	H1155Q	possibly damaging	Het
Col16a1	G	A	4: 130,052,980		probably null	Het
Cpne5	G	A	17: 29,159,077	P576L	unknown	Het
Crocc	C	A	4: 141,047,057	V144L	possibly damaging	Het
Cubn	A	G	2: 13,319,858	V2781A	probably damaging	Het
Cyp8b1	A	G	9: 121,915,289	F326L	probably benign	Het
Dclk1	G	A	3: 55,487,912		probably null	Het
Dnah7c	A	G	1: 46,750,125	R3303G	probably benign	Het
Dnhd1	G	T	7: 105,708,532	R3191S	probably benign	Het
Fgfbp3	T	G	19: 36,918,703	S172R	possibly damaging	Het
Gpr158	G	A	2: 21,826,575	V829I	probably benign	Het
Gtse1	A	G	15: 85,875,549	D647G	probably damaging	Het
H2-Q7	T	A	17: 35,439,485	V33E	probably damaging	Het
Hydin	A	G	8: 110,600,245	T4739A	possibly damaging	Het
Kcnip1	G	T	11: 33,634,629	P175T	probably damaging	Het
Klhl10	T	C	11: 100,456,942	V608A	probably benign	Het
Klhl2	A	G	8: 64,823,012	Y80H	probably damaging	Het
Lnx2	A	T	5: 147,020,178		probably null	Het
Lst1	G	A	17: 35,185,286	H59Y	probably damaging	Het
Maats1	A	T	16: 38,306,857	F512L	possibly damaging	Het
Mphosph8	G	C	14: 56,668,523	V58L	possibly damaging	Het
Mpnd	C	A	17: 56,009,457	S45R	possibly damaging	Het
Myh8	A	G	11: 67,292,627		probably null	Het
Odf3	A	G	7: 140,849,489	H151R	probably benign	Het
Olfr1263	A	G	2: 90,015,250	I107V	probably benign	Het
Olfr533	A	G	7: 140,466,428	T76A	possibly damaging	Het
Phox2a	A	G	7: 101,818,511	Y5C	probably damaging	Het
Pkdrej	A	G	15: 85,820,116	S540P	probably damaging	Het
Plcb4	A	G	2: 136,007,847	M1133V	probably benign	Het
Plxnc1	T	C	10: 94,831,435	M1126V	probably benign	Het
Ppm1l	A	G	3: 69,317,853	Y96C	probably damaging	Het
Prpsap1	T	C	11: 116,477,283	T234A	probably benign	Het
R3hcc1l	T	C	19: 42,581,970	V668A	probably damaging	Het
Rapgef2	A	G	3: 79,086,046	S712P	probably benign	Het
Rcc2	T	C	4: 140,707,969	C100R	probably benign	Het
Recql4	C	A	15: 76,705,553	G764V	unknown	Het
Rlbp1	A	G	7: 79,380,065	I140T	possibly damaging	Het
Samsn1	T	C	16: 75,870,906	T261A	probably benign	Het
Sgtb	T	C	13: 104,118,416	S65P	possibly damaging	Het
Spag9	T	C	11: 94,097,864	V920A	probably benign	Het
Spata31	T	A	13: 64,922,229	S730R	probably benign	Het
Spta1	C	T	1: 174,199,484	A841V	probably damaging	Het
St5	A	G	7: 109,525,574	I1083T	probably damaging	Het
Tnfaip1	T	C	11: 78,525,439	S273G	probably benign	Het
Vezf1	T	C	11: 88,078,538	V371A	probably benign	Het
Vmn1r67	G	A	7: 10,447,117	V103I	possibly damaging	Het
Vmn2r87	G	T	10: 130,497,309	T24K	probably benign	Het
Wdr43	G	A	17: 71,616,439	G60D	probably benign	Het
Xkr4	G	A	1: 3,216,962	T335I	probably damaging	Het
Zdhhc23	A	T	16: 43,971,510	I300N	probably damaging	Het
Zfp729b	T	C	13: 67,592,937	K403R	probably damaging	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
R6229:Ankub1	UTSW	3	57665107	missense	probably benign	0.00
R6929:Ankub1	UTSW	3	57665433	nonsense	probably null
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'- AGCACCAACATCCTTTCCTG -3'
(R):5'- GGTCTGCTAATAACGAAACAGCC -3'

Sequencing Primer
(F):5'- AAGTTGCCCTCAAACTTACCATTG -3'
(R):5'- AGGCAGGTGGTATCTTGA -3'

Posted On

2019-05-15