Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Ankfy1'

92063

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

72690006-72772146 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72738365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 338 (Y338N)

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
AA Change: Y338N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118252
Gene: ENSMUSG00000020790
AA Change: Y338N

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: Y338N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: Y338N

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,214,134	V105A	probably benign	Het
Acr	T	C	15: 89,568,414	V18A	probably benign	Het
Adgra2	G	A	8: 27,118,733	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 45,142,093	F753L	probably damaging	Het
Aox3	C	T	1: 58,169,794	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,737,046	S1535P	probably benign	Het
C4b	A	G	17: 34,743,019		probably benign	Het
Ccdc157	A	G	11: 4,148,781	C242R	probably damaging	Het
Cep135	T	A	5: 76,593,347	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,244,057		probably null	Het
Chl1	A	G	6: 103,708,484	T829A	probably benign	Het
Copb2	T	C	9: 98,581,150	S473P	probably damaging	Het
Cpb1	C	T	3: 20,251,954		probably null	Het
Cpsf1	A	G	15: 76,596,541	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,212,462	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,691,884	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,034,964	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,186,656	V287M	probably damaging	Het
Fras1	T	C	5: 96,709,891	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,040,004		probably benign	Het
Gprc5c	A	G	11: 114,864,252	I252V	probably benign	Het
Ints3	C	T	3: 90,394,322		probably null	Het
L1td1	A	G	4: 98,737,344	D592G	probably damaging	Het
Lamb3	A	G	1: 193,343,412	M1137V	probably benign	Het
Leng8	C	A	7: 4,145,482	A751E	probably benign	Het
Lfng	T	C	5: 140,612,535	V204A	probably damaging	Het
Lsm14b	A	G	2: 180,032,603	D233G	probably damaging	Het
Map4	C	T	9: 110,034,768	P354S	probably benign	Het
Mapt	G	A	11: 104,294,915	V53M	probably damaging	Het
Mier1	T	G	4: 103,155,541	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,251,847	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,789	A257V	probably damaging	Het
Nup188	T	C	2: 30,327,525	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,021,310	S333P	probably damaging	Het
Olfr460	A	C	6: 40,572,252	I289L	probably damaging	Het
Olfr849	T	G	9: 19,441,815	F301V	probably benign	Het
Pbxip1	C	A	3: 89,443,590		probably benign	Het
Pde9a	G	T	17: 31,414,150	C38F	probably damaging	Het
Plb1	A	T	5: 32,342,544		probably benign	Het
Plcz1	T	C	6: 140,002,256		probably benign	Het
Plxnb1	T	C	9: 109,110,604	V1447A	probably damaging	Het
Pnldc1	A	T	17: 12,906,528	M73K	probably benign	Het
Psg20	C	T	7: 18,681,038	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,659,405		probably null	Het
Rabgap1	T	C	2: 37,556,269	V859A	probably damaging	Het
Rad51b	T	A	12: 79,327,228	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,248,771	Q788*	probably null	Het
Ror2	C	T	13: 53,111,617	G468R	probably damaging	Het
Slamf7	A	G	1: 171,641,186	I46T	possibly damaging	Het
Stab2	A	G	10: 86,922,895	S1060P	probably damaging	Het
Syndig1	T	A	2: 150,003,283	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,118,451	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,359,552		probably benign	Het
Trav21-dv12	T	C	14: 53,876,731	Y103H	probably damaging	Het
Ubr3	T	C	2: 69,938,178	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,092,120	C749F	probably damaging	Het
Ulk2	G	T	11: 61,791,436	S751*	probably null	Het
Wrn	G	A	8: 33,241,011	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,346,349	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,309,723	S223P	probably damaging	Het
Zcchc11	T	C	4: 108,513,399	S871P	possibly 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
IGL01918:Ankfy1	APN	11	72740455	missense	probably benign	0.09
IGL03007:Ankfy1	APN	11	72750521	missense	probably damaging	0.98
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
R8709:Ankfy1	UTSW	11	72755706	missense	possibly damaging	0.91
R8717:Ankfy1	UTSW	11	72730474	missense	probably benign	0.01
R8839:Ankfy1	UTSW	11	72730566	missense	probably benign	0.39
R8862:Ankfy1	UTSW	11	72753643	missense	probably benign	0.18
R8954:Ankfy1	UTSW	11	72750491	missense	possibly damaging	0.91
R9548:Ankfy1	UTSW	11	72750179	critical splice donor site	probably null
R9762:Ankfy1	UTSW	11	72730575	missense	probably benign

Posted On

2013-12-09