Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03182:Ankfy1'

412311

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 #

IGL03182

Quality Score

Status

Chromosome

Chromosomal Location

72580832-72662972 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 72619580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably benign
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

noncoding transcript
Transcript: ENSMUST00000150172

Predicted Effect

probably benign
Transcript: ENSMUST00000155998

SMART Domains

Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	T	6: 34,780,435 (GRCm39)	K469N	probably damaging	Het
Aldh2	A	G	5: 121,718,787 (GRCm39)		probably benign	Het
Ankhd1	C	T	18: 36,711,827 (GRCm39)	T209I	probably benign	Het
Aox3	G	A	1: 58,205,046 (GRCm39)	V754I	probably benign	Het
Arfgef3	C	T	10: 18,476,292 (GRCm39)	R1509H	probably damaging	Het
Ccdc157	A	G	11: 4,101,832 (GRCm39)	S30P	probably damaging	Het
Cept1	T	A	3: 106,411,866 (GRCm39)	E369D	probably damaging	Het
Clcnka	T	C	4: 141,121,798 (GRCm39)	Y236C	probably damaging	Het
Ddx42	A	T	11: 106,138,353 (GRCm39)	L717F	probably benign	Het
Dnah11	A	T	12: 117,994,026 (GRCm39)	I2340N	probably damaging	Het
Dsel	T	C	1: 111,787,868 (GRCm39)	E889G	probably damaging	Het
Fasn	T	C	11: 120,703,552 (GRCm39)	Y1560C	probably damaging	Het
Fermt2	A	T	14: 45,699,225 (GRCm39)	M623K	possibly damaging	Het
Gm21970	T	A	16: 91,190,726 (GRCm39)	S110T	possibly damaging	Het
Gm826	T	A	2: 160,169,035 (GRCm39)	R91S	unknown	Het
Lrrn3	A	G	12: 41,504,020 (GRCm39)	L99S	probably damaging	Het
Megf8	T	A	7: 25,046,773 (GRCm39)	M1552K	possibly damaging	Het
Mgll	G	T	6: 88,800,173 (GRCm39)	V191F	probably damaging	Het
Nkapd1	T	C	9: 50,523,698 (GRCm39)	N50S	possibly damaging	Het
Nol8	C	A	13: 49,817,557 (GRCm39)	H778N	probably damaging	Het
Or1e26	T	A	11: 73,480,268 (GRCm39)	T99S	probably benign	Het
Or5b116	A	C	19: 13,422,807 (GRCm39)	T144P	possibly damaging	Het
Or8g30	A	T	9: 39,230,277 (GRCm39)	M211K	probably benign	Het
Or8k40	A	T	2: 86,584,366 (GRCm39)	S239T	probably damaging	Het
Pfkfb3	A	T	2: 11,506,474 (GRCm39)	I13N	probably damaging	Het
Pim1	T	A	17: 29,710,740 (GRCm39)	D114E	possibly damaging	Het
Pkd1	T	C	17: 24,792,792 (GRCm39)	L1493P	probably damaging	Het
Plb1	A	T	5: 32,502,259 (GRCm39)		probably benign	Het
Plch1	A	T	3: 63,610,015 (GRCm39)	Y872*	probably null	Het
Rictor	A	G	15: 6,819,079 (GRCm39)	D1434G	probably benign	Het
Rptor	G	A	11: 119,615,971 (GRCm39)	G162R	probably damaging	Het
Serping1	T	C	2: 84,596,162 (GRCm39)	D424G	probably damaging	Het
Slit2	A	G	5: 48,377,395 (GRCm39)	I475V	possibly damaging	Het
Snx31	G	T	15: 36,525,833 (GRCm39)	Q289K	probably benign	Het
Tbc1d13	G	A	2: 30,037,379 (GRCm39)	A254T	probably damaging	Het
Tek	T	C	4: 94,740,002 (GRCm39)	I750T	probably damaging	Het
Tet2	A	T	3: 133,177,159 (GRCm39)	L1296*	probably null	Het
Tmem145	T	A	7: 25,014,304 (GRCm39)	F459I	probably damaging	Het
Uba5	A	T	9: 103,931,328 (GRCm39)	V247D	possibly damaging	Het
Vmn1r83	T	C	7: 12,055,617 (GRCm39)	M147V	probably benign	Het
Vwde	T	C	6: 13,187,138 (GRCm39)	D783G	probably damaging	Het
Zfp609	A	G	9: 65,608,287 (GRCm39)	S1198P	probably benign	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
IGL01918:Ankfy1	APN	11	72,631,281 (GRCm39)	missense	probably benign	0.09
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
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

2016-08-02