Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01918:Ankfy1'

180022

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankfy1

Ensembl Gene

ENSMUSG00000020790

Gene Name

ankyrin repeat and FYVE domain containing 1

Synonyms

Ankhzn

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01918

Quality Score

Status

Chromosome

Chromosomal Location

72580832-72662972 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72631281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 409 (V409A)

Ref Sequence

ENSEMBL: ENSMUSP00000118751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127610] [ENSMUST00000155998]

AlphaFold

Q810B6

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102548

Predicted Effect

silent
Transcript: ENSMUST00000127610

SMART Domains

Protein: ENSMUSP00000118252
Gene: ENSMUSG00000020790

Domain	Start	End	E-Value	Type
Blast:UBCc	4	33	3e-8	BLAST
BTB	68	162	3.26e-20	SMART
Blast:ANK	217	247	6e-8	BLAST
ANK	255	284	5.29e0	SMART
ANK	288	317	1.04e2	SMART
ANK	322	362	4.3e0	SMART
ANK	366	395	4.73e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155998
AA Change: V409A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: V409A

Domain	Start	End	E-Value	Type
coiled coil region	1	45	N/A	INTRINSIC
BTB	68	162	3.26e-20	SMART
ANK	255	284	5.29e0	SMART
ANK	288	317	1.04e2	SMART
ANK	322	362	4.3e0	SMART
ANK	366	396	9.75e1	SMART
ANK	400	452	8.5e2	SMART
low complexity region	465	478	N/A	INTRINSIC
ANK	490	519	4.56e-4	SMART
ANK	542	572	3.18e-3	SMART
ANK	588	617	1.72e1	SMART
ANK	621	650	5.16e-3	SMART
ANK	654	683	8.14e-1	SMART
ANK	687	716	5.37e-1	SMART
ANK	724	753	3.08e-1	SMART
ANK	769	798	2.56e-7	SMART
ANK	802	830	1.93e-2	SMART
ANK	836	865	3.47e2	SMART
ANK	870	899	9.49e-2	SMART
ANK	905	934	2.41e-3	SMART
ANK	938	967	1.34e-1	SMART
ANK	971	1001	4.43e-2	SMART
Blast:ANK	1005	1039	2e-16	BLAST
ANK	1043	1074	5.67e0	SMART
FYVE	1099	1165	3.98e-28	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial embryonic lethality with no apparent neural developmental defects on a mixed genetic background but show complete embryonic lethality on highly homogenous genetic backgrounds. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	T	C	7: 42,097,098 (GRCm39)	Q71R	probably benign	Het
Ap4m1	A	G	5: 138,171,106 (GRCm39)	T69A	probably damaging	Het
B3gat2	A	T	1: 23,884,209 (GRCm39)	K306*	probably null	Het
Calr	A	G	8: 85,569,479 (GRCm39)		probably benign	Het
Ccdc54	C	T	16: 50,411,215 (GRCm39)	W17*	probably null	Het
Cd68	T	C	11: 69,555,927 (GRCm39)	S204G	possibly damaging	Het
Cep128	A	T	12: 91,200,984 (GRCm39)	I342K	probably damaging	Het
Ces1d	T	A	8: 93,904,703 (GRCm39)	I346L	probably benign	Het
Cfap70	T	A	14: 20,475,467 (GRCm39)	D418V	possibly damaging	Het
Cntnap4	A	T	8: 113,478,866 (GRCm39)	R197S	possibly damaging	Het
Ddx31	G	T	2: 28,764,176 (GRCm39)	V461F	probably damaging	Het
Eps15l1	T	C	8: 73,121,756 (GRCm39)	M714V	possibly damaging	Het
Fshb	A	T	2: 106,889,272 (GRCm39)	F11I	probably benign	Het
Fsip2	T	G	2: 82,822,482 (GRCm39)	C6072G	possibly damaging	Het
Fuz	T	G	7: 44,546,383 (GRCm39)	L93R	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm8991	G	A	5: 16,935,678 (GRCm39)		noncoding transcript	Het
Itga11	C	A	9: 62,680,278 (GRCm39)	N973K	probably benign	Het
Lca5	T	A	9: 83,305,201 (GRCm39)	T202S	probably damaging	Het
Lrp1	G	A	10: 127,390,458 (GRCm39)	L3053F	probably damaging	Het
Mapk13	T	C	17: 28,994,304 (GRCm39)	Y129H	probably damaging	Het
Mast1	T	A	8: 85,647,838 (GRCm39)	H512L	probably damaging	Het
Mlip	T	C	9: 77,081,281 (GRCm39)	N213S	probably damaging	Het
Mtcl1	C	T	17: 66,675,263 (GRCm39)	G734R	possibly damaging	Het
Myo9a	T	A	9: 59,686,985 (GRCm39)	I30N	probably damaging	Het
Or4b13	A	G	2: 90,082,675 (GRCm39)	I219T	probably damaging	Het
Pctp	T	C	11: 89,878,162 (GRCm39)	D124G	probably benign	Het
Phc3	A	G	3: 30,968,565 (GRCm39)		probably null	Het
Plat	T	A	8: 23,270,453 (GRCm39)	F457I	possibly damaging	Het
Snw1	T	C	12: 87,502,438 (GRCm39)	K319E	probably benign	Het
Sox8	A	G	17: 25,789,111 (GRCm39)	L129P	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stc1	A	T	14: 69,269,103 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,241,450 (GRCm39)		probably benign	Het
Tmem81	T	A	1: 132,435,698 (GRCm39)	V168D	probably damaging	Het
Ttc41	C	A	10: 86,549,054 (GRCm39)	Q83K	probably damaging	Het
Ugt1a5	T	C	1: 88,094,267 (GRCm39)	V165A	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vps33b	A	G	7: 79,937,560 (GRCm39)		probably null	Het
Zap70	T	C	1: 36,817,868 (GRCm39)	Y290H	possibly damaging	Het

Other mutations in Ankfy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Ankfy1	APN	11	72,619,598 (GRCm39)	missense	probably benign	0.03
IGL00837:Ankfy1	APN	11	72,646,724 (GRCm39)	splice site	probably benign
IGL01061:Ankfy1	APN	11	72,619,686 (GRCm39)	nonsense	probably null
IGL01305:Ankfy1	APN	11	72,655,617 (GRCm39)	missense	probably damaging	1.00
IGL01599:Ankfy1	APN	11	72,629,191 (GRCm39)	missense	probably benign
IGL03007:Ankfy1	APN	11	72,641,347 (GRCm39)	missense	probably damaging	0.98
IGL03134:Ankfy1	APN	11	72,603,011 (GRCm39)	missense	probably damaging	1.00
IGL03182:Ankfy1	APN	11	72,619,580 (GRCm39)	splice site	probably benign
Betruenken	UTSW	11	72,644,434 (GRCm39)	missense	possibly damaging	0.78
Inebriated	UTSW	11	72,642,931 (GRCm39)	missense	probably benign
Smashed	UTSW	11	72,603,030 (GRCm39)	missense	probably damaging	1.00
woozy	UTSW	11	72,645,285 (GRCm39)	missense	probably benign	0.33
ANU22:Ankfy1	UTSW	11	72,655,617 (GRCm39)	missense	probably damaging	1.00
I2289:Ankfy1	UTSW	11	72,621,311 (GRCm39)	missense	probably benign	0.01
R0062:Ankfy1	UTSW	11	72,603,030 (GRCm39)	missense	probably damaging	1.00
R0062:Ankfy1	UTSW	11	72,603,030 (GRCm39)	missense	probably damaging	1.00
R0569:Ankfy1	UTSW	11	72,644,434 (GRCm39)	missense	possibly damaging	0.78
R0787:Ankfy1	UTSW	11	72,651,122 (GRCm39)	missense	probably damaging	1.00
R1303:Ankfy1	UTSW	11	72,640,897 (GRCm39)	splice site	probably null
R1522:Ankfy1	UTSW	11	72,646,693 (GRCm39)	nonsense	probably null
R1552:Ankfy1	UTSW	11	72,645,321 (GRCm39)	critical splice donor site	probably null
R1565:Ankfy1	UTSW	11	72,648,144 (GRCm39)	missense	probably damaging	1.00
R1899:Ankfy1	UTSW	11	72,645,233 (GRCm39)	nonsense	probably null
R1900:Ankfy1	UTSW	11	72,645,233 (GRCm39)	nonsense	probably null
R1950:Ankfy1	UTSW	11	72,651,155 (GRCm39)	missense	probably damaging	1.00
R2421:Ankfy1	UTSW	11	72,646,722 (GRCm39)	splice site	probably benign
R3429:Ankfy1	UTSW	11	72,602,980 (GRCm39)	splice site	probably benign
R3801:Ankfy1	UTSW	11	72,640,246 (GRCm39)	missense	probably benign
R4079:Ankfy1	UTSW	11	72,580,835 (GRCm39)	utr 5 prime	probably benign
R4119:Ankfy1	UTSW	11	72,605,310 (GRCm39)	critical splice donor site	probably null
R4120:Ankfy1	UTSW	11	72,605,310 (GRCm39)	critical splice donor site	probably null
R4165:Ankfy1	UTSW	11	72,605,310 (GRCm39)	critical splice donor site	probably null
R4233:Ankfy1	UTSW	11	72,605,310 (GRCm39)	critical splice donor site	probably null
R4234:Ankfy1	UTSW	11	72,605,310 (GRCm39)	critical splice donor site	probably null
R4236:Ankfy1	UTSW	11	72,605,310 (GRCm39)	critical splice donor site	probably null
R4735:Ankfy1	UTSW	11	72,621,437 (GRCm39)	missense	probably benign
R4765:Ankfy1	UTSW	11	72,603,117 (GRCm39)	missense	probably benign	0.05
R4904:Ankfy1	UTSW	11	72,642,931 (GRCm39)	missense	probably benign
R5057:Ankfy1	UTSW	11	72,650,745 (GRCm39)	missense	probably damaging	1.00
R5454:Ankfy1	UTSW	11	72,637,757 (GRCm39)	missense	probably benign	0.00
R5471:Ankfy1	UTSW	11	72,619,617 (GRCm39)	missense	probably benign	0.01
R5737:Ankfy1	UTSW	11	72,623,100 (GRCm39)	missense	probably damaging	0.98
R5770:Ankfy1	UTSW	11	72,651,082 (GRCm39)	missense	probably damaging	1.00
R5896:Ankfy1	UTSW	11	72,650,811 (GRCm39)	missense	probably damaging	0.98
R5930:Ankfy1	UTSW	11	72,603,071 (GRCm39)	missense	probably benign	0.00
R5960:Ankfy1	UTSW	11	72,648,178 (GRCm39)	missense	possibly damaging	0.91
R6169:Ankfy1	UTSW	11	72,645,285 (GRCm39)	missense	probably benign	0.33
R6176:Ankfy1	UTSW	11	72,645,285 (GRCm39)	missense	probably benign	0.33
R6177:Ankfy1	UTSW	11	72,645,285 (GRCm39)	missense	probably benign	0.33
R6178:Ankfy1	UTSW	11	72,645,285 (GRCm39)	missense	probably benign	0.33
R6477:Ankfy1	UTSW	11	72,621,308 (GRCm39)	missense	possibly damaging	0.76
R6513:Ankfy1	UTSW	11	72,621,308 (GRCm39)	missense	possibly damaging	0.76
R6521:Ankfy1	UTSW	11	72,621,308 (GRCm39)	missense	possibly damaging	0.76
R6523:Ankfy1	UTSW	11	72,621,308 (GRCm39)	missense	possibly damaging	0.76
R6524:Ankfy1	UTSW	11	72,621,308 (GRCm39)	missense	possibly damaging	0.76
R7006:Ankfy1	UTSW	11	72,631,290 (GRCm39)	missense	probably benign	0.01
R7329:Ankfy1	UTSW	11	72,603,034 (GRCm39)	missense	probably damaging	0.96
R7393:Ankfy1	UTSW	11	72,629,134 (GRCm39)	missense	possibly damaging	0.70
R7410:Ankfy1	UTSW	11	72,652,330 (GRCm39)	missense	probably damaging	1.00
R7488:Ankfy1	UTSW	11	72,650,769 (GRCm39)	missense	probably benign	0.05
R7731:Ankfy1	UTSW	11	72,603,107 (GRCm39)	missense	probably benign	0.00
R7810:Ankfy1	UTSW	11	72,645,281 (GRCm39)	nonsense	probably null
R8236:Ankfy1	UTSW	11	72,645,181 (GRCm39)	missense	possibly damaging	0.90
R8709:Ankfy1	UTSW	11	72,646,532 (GRCm39)	missense	possibly damaging	0.91
R8717:Ankfy1	UTSW	11	72,621,300 (GRCm39)	missense	probably benign	0.01
R8839:Ankfy1	UTSW	11	72,621,392 (GRCm39)	missense	probably benign	0.39
R8862:Ankfy1	UTSW	11	72,644,469 (GRCm39)	missense	probably benign	0.18
R8954:Ankfy1	UTSW	11	72,641,317 (GRCm39)	missense	possibly damaging	0.91
R9548:Ankfy1	UTSW	11	72,641,005 (GRCm39)	critical splice donor site	probably null
R9762:Ankfy1	UTSW	11	72,621,401 (GRCm39)	missense	probably benign

Posted On

2014-05-07