Mutagenetix > Incidental Mutation

Incidental Mutation 'R3801:Ankfy1'

272995

Institutional Source

Beutler Lab

Gene Symbol

Ankfy1

Ensembl Gene

ENSMUSG00000020790

Gene Name

ankyrin repeat and FYVE domain containing 1

Synonyms

Ankhzn

MMRRC Submission

040760-MU

Accession Numbers

Genbank: NM_009671.5

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72690006-72772146 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72749420 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 531 (S531P)

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

probably benign
Transcript: ENSMUST00000155998
AA Change: S531P

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

SMART Domains

Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: S531P

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,248,293	E54K	probably benign	Het
Als2	A	C	1: 59,167,199	M1634R	probably damaging	Het
Atp6v1e1	A	G	6: 120,801,059	Y172H	probably benign	Het
Brd1	C	T	15: 88,717,040	V464M	probably damaging	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,824,263	D3G	possibly damaging	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Cgrrf1	G	T	14: 46,832,363	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,919,795	D614G	probably benign	Het
Cyp2c23	C	T	19: 44,007,039	V430I	probably benign	Het
Dazl	G	A	17: 50,281,281	R289W	probably benign	Het
Dsg1b	C	T	18: 20,390,203	P96S	probably damaging	Het
Dusp14	A	G	11: 84,048,709	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,151,926	D91G	probably benign	Het
Eif1	A	G	11: 100,320,824	K95E	probably damaging	Het
Fap	C	T	2: 62,546,650	V191I	probably benign	Het
Flnc	T	C	6: 29,447,404	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,869,148	T526A	possibly damaging	Het
Fras1	A	T	5: 96,733,932	T2508S	probably benign	Het
Gast	T	C	11: 100,336,810	S73P	probably damaging	Het
Grap2	A	G	15: 80,623,746	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,524	H132L	probably benign	Het
Iqcm	C	A	8: 75,669,393	T188K	possibly damaging	Het
Kank4	A	G	4: 98,780,133	S26P	probably damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,737,111	R963G	probably benign	Het
Lrtm2	G	A	6: 119,317,483	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,828,003	D406E	possibly damaging	Het
Meikin	T	A	11: 54,399,871		probably null	Het
Mybl1	A	T	1: 9,673,214	F538I	probably damaging	Het
Nectin2	T	C	7: 19,717,636	D491G	probably benign	Het
Nf1	A	G	11: 79,559,521	D511G	probably null	Het
Nid2	T	C	14: 19,809,997	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,122,703	M574L	probably benign	Het
Nrap	C	T	19: 56,321,779	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,376,434	P496S	probably damaging	Het
Olfr1287	A	T	2: 111,449,565	I142F	probably benign	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Phkb	G	T	8: 85,922,229	E225*	probably null	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prdm12	A	G	2: 31,651,947	K223E	probably damaging	Het
Prkd1	C	A	12: 50,383,422	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,414,366	I181F	possibly damaging	Het
Samd8	G	A	14: 21,775,065	V30M	probably damaging	Het
Sema4f	A	T	6: 82,918,627	H308Q	possibly damaging	Het
Skint4	G	T	4: 112,118,181	V113L	probably damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slpi	A	G	2: 164,356,238	L12P	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Spag17	A	G	3: 100,053,853	K985R	possibly damaging	Het
Stc1	T	C	14: 69,038,475	I239T	probably benign	Het
Suclg2	A	T	6: 95,497,668	I372N	probably damaging	Het
Tmed4	C	A	11: 6,274,233	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,055,171		probably null	Het
Top1	A	G	2: 160,702,768	H268R	probably damaging	Het
Triobp	A	T	15: 78,973,700	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,151,352	P536L	possibly damaging	Het
Usp13	C	T	3: 32,881,508	A360V	possibly damaging	Het
Vhl	G	A	6: 113,629,462	V147I	probably benign	Het
Vldlr	A	T	19: 27,217,621	T3S	probably damaging	Het
Vps54	T	A	11: 21,268,832	D130E	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,521,215	N37K	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTGGTCCCTGAGTTTTGC -3'
(R):5'- GCTACAAAACTAGCTGTACACG -3'

Sequencing Primer
(F):5'- GTCTGTAACTGTGACAGGAACTCC -3'
(R):5'- TCAACAGCCTCAAGTCAACTG -3'

Posted On

2015-03-25