Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03007:Ankfy1'

407604

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

Genbank: NM_009671.5

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03007

Quality Score

Status

Chromosome

Chromosomal Location

72690006-72772146 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72750521 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 640 (F640S)

Ref Sequence

ENSEMBL: ENSMUSP00000118751 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000155998
AA Change: F640S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: F640S

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,222,038	N144D	possibly damaging	Het
A830010M20Rik	T	A	5: 107,503,676	V145E	probably benign	Het
A830031A19Rik	T	C	11: 24,049,248		probably benign	Het
Asb8	A	G	15: 98,142,734	Y16H	probably damaging	Het
Astn1	T	C	1: 158,668,623		probably benign	Het
Celf3	A	G	3: 94,487,137	T183A	probably benign	Het
Dctn1	T	C	6: 83,182,708	V56A	probably damaging	Het
Erbb2	A	C	11: 98,428,993		probably benign	Het
Ighv6-4	A	T	12: 114,406,593	Y80N	possibly damaging	Het
Igsf9b	T	C	9: 27,333,082	S782P	probably damaging	Het
Itsn1	A	T	16: 91,784,162		probably benign	Het
Kcnt2	T	A	1: 140,354,507	Y77N	possibly damaging	Het
Lig3	T	C	11: 82,789,575	F359S	probably damaging	Het
Mtmr6	G	T	14: 60,289,535		probably benign	Het
Muc4	C	T	16: 32,752,048	S642F	possibly damaging	Het
Ncoa1	T	A	12: 4,339,114	I54F	possibly damaging	Het
Nfx1	C	A	4: 40,984,962	T362K	probably benign	Het
Ntrk1	T	C	3: 87,782,743	S449G	possibly damaging	Het
Odc1	T	A	12: 17,548,810	H230Q	probably benign	Het
Olfr26	C	T	9: 38,855,296	T78I	probably damaging	Het
Olfr348	T	C	2: 36,786,800	S92P	probably damaging	Het
Olfr63	A	G	17: 33,268,883	E53G	probably damaging	Het
Olfr963	T	C	9: 39,669,471	V138A	possibly damaging	Het
Plekhh2	A	C	17: 84,574,960	S665R	possibly damaging	Het
Qpct	T	A	17: 79,070,865	F155I	probably damaging	Het
Rcor2	C	A	19: 7,274,353	T379K	probably benign	Het
Rint1	A	G	5: 23,815,701	N574S	probably benign	Het
Rsbn1	C	T	3: 103,928,879	A411V	probably damaging	Het
Sbno2	A	T	10: 80,058,550		probably benign	Het
Sptb	A	G	12: 76,621,341	S661P	probably damaging	Het
Syn3	A	T	10: 86,064,914	M370K	possibly damaging	Het
Tex101	G	A	7: 24,670,481		probably benign	Het
Tmem255b	C	T	8: 13,457,066	T265I	possibly damaging	Het
Trio	G	T	15: 27,902,742	A211D	probably damaging	Het
Zfp638	C	A	6: 83,984,884	Q1902K	probably damaging	Het

Other mutations in Ankfy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Ankfy1	APN	11	72728772	missense	probably benign	0.03
IGL00837:Ankfy1	APN	11	72755898	splice site	probably benign
IGL01061:Ankfy1	APN	11	72728860	nonsense	probably null
IGL01305:Ankfy1	APN	11	72764791	missense	probably damaging	1.00
IGL01599:Ankfy1	APN	11	72738365	missense	probably benign
IGL01918:Ankfy1	APN	11	72740455	missense	probably benign	0.09
IGL03134:Ankfy1	APN	11	72712185	missense	probably damaging	1.00
IGL03182:Ankfy1	APN	11	72728754	splice site	probably benign
Betruenken	UTSW	11	72753608	missense	possibly damaging	0.78
inebriated	UTSW	11	72752105	missense	probably benign
Smashed	UTSW	11	72712204	missense	probably damaging	1.00
woozy	UTSW	11	72754459	missense	probably benign	0.33
ANU22:Ankfy1	UTSW	11	72764791	missense	probably damaging	1.00
I2289:Ankfy1	UTSW	11	72730485	missense	probably benign	0.01
R0062:Ankfy1	UTSW	11	72712204	missense	probably damaging	1.00
R0062:Ankfy1	UTSW	11	72712204	missense	probably damaging	1.00
R0569:Ankfy1	UTSW	11	72753608	missense	possibly damaging	0.78
R0787:Ankfy1	UTSW	11	72760296	missense	probably damaging	1.00
R1303:Ankfy1	UTSW	11	72750071	splice site	probably null
R1522:Ankfy1	UTSW	11	72755867	nonsense	probably null
R1552:Ankfy1	UTSW	11	72754495	critical splice donor site	probably null
R1565:Ankfy1	UTSW	11	72757318	missense	probably damaging	1.00
R1899:Ankfy1	UTSW	11	72754407	nonsense	probably null
R1900:Ankfy1	UTSW	11	72754407	nonsense	probably null
R1950:Ankfy1	UTSW	11	72760329	missense	probably damaging	1.00
R2421:Ankfy1	UTSW	11	72755896	splice site	probably benign
R3429:Ankfy1	UTSW	11	72712154	splice site	probably benign
R3801:Ankfy1	UTSW	11	72749420	missense	probably benign
R4079:Ankfy1	UTSW	11	72690009	utr 5 prime	probably benign
R4119:Ankfy1	UTSW	11	72714484	critical splice donor site	probably null
R4120:Ankfy1	UTSW	11	72714484	critical splice donor site	probably null
R4165:Ankfy1	UTSW	11	72714484	critical splice donor site	probably null
R4233:Ankfy1	UTSW	11	72714484	critical splice donor site	probably null
R4234:Ankfy1	UTSW	11	72714484	critical splice donor site	probably null
R4236:Ankfy1	UTSW	11	72714484	critical splice donor site	probably null
R4735:Ankfy1	UTSW	11	72730611	missense	probably benign
R4765:Ankfy1	UTSW	11	72712291	missense	probably benign	0.05
R4904:Ankfy1	UTSW	11	72752105	missense	probably benign
R5057:Ankfy1	UTSW	11	72759919	missense	probably damaging	1.00
R5454:Ankfy1	UTSW	11	72746931	missense	probably benign	0.00
R5471:Ankfy1	UTSW	11	72728791	missense	probably benign	0.01
R5737:Ankfy1	UTSW	11	72732274	missense	probably damaging	0.98
R5770:Ankfy1	UTSW	11	72760256	missense	probably damaging	1.00
R5896:Ankfy1	UTSW	11	72759985	missense	probably damaging	0.98
R5930:Ankfy1	UTSW	11	72712245	missense	probably benign	0.00
R5960:Ankfy1	UTSW	11	72757352	missense	possibly damaging	0.91
R6169:Ankfy1	UTSW	11	72754459	missense	probably benign	0.33
R6176:Ankfy1	UTSW	11	72754459	missense	probably benign	0.33
R6177:Ankfy1	UTSW	11	72754459	missense	probably benign	0.33
R6178:Ankfy1	UTSW	11	72754459	missense	probably benign	0.33
R6477:Ankfy1	UTSW	11	72730482	missense	possibly damaging	0.76
R6513:Ankfy1	UTSW	11	72730482	missense	possibly damaging	0.76
R6521:Ankfy1	UTSW	11	72730482	missense	possibly damaging	0.76
R6523:Ankfy1	UTSW	11	72730482	missense	possibly damaging	0.76
R6524:Ankfy1	UTSW	11	72730482	missense	possibly damaging	0.76
R7006:Ankfy1	UTSW	11	72740464	missense	probably benign	0.01
R7329:Ankfy1	UTSW	11	72712208	missense	probably damaging	0.96
R7393:Ankfy1	UTSW	11	72738308	missense	possibly damaging	0.70
R7410:Ankfy1	UTSW	11	72761504	missense	probably damaging	1.00
R7488:Ankfy1	UTSW	11	72759943	missense	probably benign	0.05
R7731:Ankfy1	UTSW	11	72712281	missense	probably benign	0.00
R7810:Ankfy1	UTSW	11	72754455	nonsense	probably null
R8236:Ankfy1	UTSW	11	72754355	missense	possibly damaging	0.90

Posted On

2016-08-02