Mutagenetix > Incidental Mutation

Incidental Mutation 'R7810:Ankfy1'

601114

Institutional Source

Beutler Lab

Gene Symbol

Ankfy1

Ensembl Gene

ENSMUSG00000020790

Gene Name

ankyrin repeat and FYVE domain containing 1

Synonyms

Ankhzn

MMRRC Submission

045865-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72580832-72662972 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 72645281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 787 (Q787*)

Ref Sequence

ENSEMBL: ENSMUSP00000118751 (fasta)

Gene Model

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

AlphaFold

Q810B6

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 null
Transcript: ENSMUST00000155998
AA Change: Q787*

SMART Domains

Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: Q787*

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (91/92)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,105,045 (GRCm39)	E200G	probably benign	Het
Birc6	T	A	17: 74,855,815 (GRCm39)	H208Q	probably damaging	Het
Brsk2	T	A	7: 141,539,157 (GRCm39)		probably null	Het
Cabp5	T	A	7: 13,132,263 (GRCm39)	F11I	possibly damaging	Het
Ccdc88a	T	C	11: 29,435,964 (GRCm39)	Y1296H	probably damaging	Het
Ccdc88b	A	G	19: 6,826,454 (GRCm39)	V1087A	probably benign	Het
Cct3	C	T	3: 88,228,442 (GRCm39)	T508I	probably damaging	Het
Ceacam9	T	A	7: 16,457,658 (GRCm39)	M57K	possibly damaging	Het
Ces1f	T	C	8: 93,983,546 (GRCm39)	E487G	probably damaging	Het
Chd5	A	G	4: 152,443,032 (GRCm39)	K278E	probably damaging	Het
Cntnap3	T	A	13: 64,941,122 (GRCm39)	H286L	possibly damaging	Het
Dnai7	T	G	6: 145,140,312 (GRCm39)	D163A	probably benign	Het
Efr3a	G	T	15: 65,659,022 (GRCm39)		probably benign	Het
Fastkd2	T	A	1: 63,770,851 (GRCm39)	I69N	possibly damaging	Het
Flg2	T	C	3: 93,107,548 (GRCm39)	I11T	possibly damaging	Het
Folr2	T	C	7: 101,490,102 (GRCm39)	M84V	possibly damaging	Het
Galnt12	T	C	4: 47,113,786 (GRCm39)	F360S	probably damaging	Het
Galr2	T	C	11: 116,173,946 (GRCm39)	V192A	probably benign	Het
Gas6	A	T	8: 13,516,809 (GRCm39)	I563N	probably damaging	Het
Gbe1	T	C	16: 70,324,085 (GRCm39)	F567L	possibly damaging	Het
Gm12695	G	A	4: 96,619,608 (GRCm39)	H423Y	probably damaging	Het
Gm6902	T	C	7: 22,973,243 (GRCm39)	T95A	probably benign	Het
Gpr155	G	T	2: 73,212,296 (GRCm39)	A109D	probably damaging	Het
Hsdl1	T	C	8: 120,294,711 (GRCm39)	D5G	probably damaging	Het
Hyal1	C	T	9: 107,455,628 (GRCm39)	P313S	probably damaging	Het
Igfn1	G	A	1: 135,902,527 (GRCm39)	T390M	probably damaging	Het
Irx1	C	A	13: 72,107,917 (GRCm39)	R255L	probably benign	Het
Itga2	T	A	13: 115,002,715 (GRCm39)	T592S	probably benign	Het
Kit	C	A	5: 75,769,982 (GRCm39)	S131R	probably benign	Het
Map1b	T	C	13: 99,568,390 (GRCm39)	T1444A	unknown	Het
Mapk8ip1	C	T	2: 92,219,496 (GRCm39)	E112K	probably benign	Het
Marveld3	T	C	8: 110,681,266 (GRCm39)	I210V	probably damaging	Het
Masp1	T	A	16: 23,295,068 (GRCm39)	I398L	probably benign	Het
Mmrn1	T	C	6: 60,953,309 (GRCm39)	I530T	probably benign	Het
Mtss2	A	G	8: 111,452,833 (GRCm39)	Y26C	probably damaging	Het
Myo5a	T	A	9: 75,067,747 (GRCm39)	S600R	probably benign	Het
Myo5a	A	G	9: 75,076,292 (GRCm39)	I836V	probably benign	Het
Naaladl1	A	G	19: 6,159,694 (GRCm39)	D375G	probably damaging	Het
Napepld	T	A	5: 21,888,263 (GRCm39)	D62V	possibly damaging	Het
Nedd9	A	C	13: 41,465,483 (GRCm39)	I719S	possibly damaging	Het
Nes	T	A	3: 87,882,923 (GRCm39)	M394K	probably benign	Het
Nlrc5	A	T	8: 95,231,772 (GRCm39)	Y1288F	possibly damaging	Het
Nlrp14	T	A	7: 106,791,782 (GRCm39)	C822*	probably null	Het
Noa1	A	C	5: 77,457,071 (GRCm39)	L278R	probably damaging	Het
Nop16	A	G	13: 54,737,889 (GRCm39)		probably benign	Het
Odr4	T	C	1: 150,268,659 (GRCm39)		probably benign	Het
Or11h7	A	T	14: 50,891,450 (GRCm39)	Y252F	probably benign	Het
Or5b12	A	G	19: 12,897,229 (GRCm39)	V148A	probably benign	Het
Osbpl10	C	T	9: 114,890,962 (GRCm39)	H117Y	probably benign	Het
Oxct1	A	T	15: 4,077,058 (GRCm39)	E130D	probably benign	Het
Padi2	A	G	4: 140,676,575 (GRCm39)	E571G	possibly damaging	Het
Pcdhac2	G	A	18: 37,278,717 (GRCm39)	V566M	probably benign	Het
Pdcd11	G	A	19: 47,086,659 (GRCm39)	E222K	possibly damaging	Het
Pira12	C	A	7: 3,897,204 (GRCm39)	C544F	probably damaging	Het
Plekha2	A	G	8: 25,578,356 (GRCm39)		probably null	Het
Pogz	T	C	3: 94,777,418 (GRCm39)	L366P	probably benign	Het
Ppp4r3b	A	G	11: 29,138,086 (GRCm39)	I145V	probably benign	Het
Prkcd	A	G	14: 30,320,407 (GRCm39)		probably null	Het
Ptprk	T	A	10: 28,468,853 (GRCm39)	H1438Q	probably damaging	Het
Rbm4	A	T	19: 4,842,650 (GRCm39)	V63E	possibly damaging	Het
Sbk2	T	A	7: 4,961,938 (GRCm39)	H116L	probably damaging	Het
Sdk1	A	G	5: 141,923,434 (GRCm39)	T352A	probably benign	Het
Septin9	T	A	11: 117,250,264 (GRCm39)	C529*	probably null	Het
Setx	T	A	2: 29,038,663 (GRCm39)	V1716D	probably benign	Het
Slc19a3	C	T	1: 82,997,162 (GRCm39)	V349I	probably benign	Het
Slc27a4	C	A	2: 29,695,722 (GRCm39)	R86S	probably benign	Het
Slc4a8	A	G	15: 100,696,059 (GRCm39)	H613R	possibly damaging	Het
Smoc2	A	G	17: 14,545,884 (GRCm39)	R58G	probably damaging	Het
Sphkap	T	A	1: 83,254,021 (GRCm39)	N1243Y	probably damaging	Het
Srsf5	T	C	12: 80,996,720 (GRCm39)	S261P	unknown	Het
Tab1	A	T	15: 80,042,999 (GRCm39)	T398S	possibly damaging	Het
Tas2r131	T	A	6: 132,934,705 (GRCm39)	T35S	probably benign	Het
Tasor2	T	C	13: 3,625,714 (GRCm39)	K1412R	possibly damaging	Het
Tigd4	T	A	3: 84,502,310 (GRCm39)	V409E	possibly damaging	Het
Tlr12	T	C	4: 128,510,501 (GRCm39)	Q583R	probably benign	Het
Tmprss9	T	A	10: 80,733,145 (GRCm39)	C894S	unknown	Het
Topaz1	T	A	9: 122,578,250 (GRCm39)	S387T	probably benign	Het
Tsfm	T	C	10: 126,847,558 (GRCm39)	R178G	probably benign	Het
Ttll13	T	C	7: 79,902,875 (GRCm39)	I181T	probably damaging	Het
Ttyh3	T	A	5: 140,610,896 (GRCm39)	K97N		Het
Ubr4	A	G	4: 139,142,394 (GRCm39)	E38G		Het
Ugt2b37	T	C	5: 87,402,118 (GRCm39)	Y171C	probably damaging	Het
Unc5b	C	A	10: 60,601,020 (GRCm39)	M935I	probably benign	Het
Usp34	T	C	11: 23,362,314 (GRCm39)	S1606P		Het
Vmn1r195	T	C	13: 22,463,244 (GRCm39)	L238P	probably damaging	Het
Vmn2r85	T	A	10: 130,261,081 (GRCm39)	M419L	probably benign	Het
Washc2	G	T	6: 116,236,020 (GRCm39)	A1164S	probably benign	Het
Wdfy3	A	T	5: 102,042,940 (GRCm39)	M1937K	probably benign	Het
Wdfy3	A	T	5: 102,099,265 (GRCm39)	L261*	probably null	Het
Wdr64	A	T	1: 175,559,092 (GRCm39)	Y285F	probably benign	Het
Wtap	A	G	17: 13,199,797 (GRCm39)	L62P	probably damaging	Het
Zfp1007	A	C	5: 109,825,170 (GRCm39)	Y93*	probably null	Het
Zfp94	C	A	7: 24,002,498 (GRCm39)	V315F	probably benign	Het
Zhx1	A	T	15: 57,911,798 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAAGCTGTGGTTCTCTAGC -3'
(R):5'- CCTTTATGCTAAAGAACAAGGCAC -3'

Sequencing Primer
(F):5'- GACGTGAATAGTCCCAGA -3'
(R):5'- GACAGGCTATATGACTACTATCTGTC -3'

Posted On

2019-11-26