Mutagenetix > Incidental Mutation

Incidental Mutation 'R5930:Ankfy1'

460195

Institutional Source

Beutler Lab

Gene Symbol

Ankfy1

Ensembl Gene

ENSMUSG00000020790

Gene Name

ankyrin repeat and FYVE domain containing 1

Synonyms

Ankhzn

MMRRC Submission

044125-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72580832-72662972 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72603071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 33 (R33S)

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: R33S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000118252
Gene: ENSMUSG00000020790
AA Change: R33S

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
AA Change: R33S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: R33S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (102/109)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,545,570 (GRCm39)	V5572I	probably benign	Het
Agap1	C	T	1: 89,770,818 (GRCm39)	T656I	probably damaging	Het
Als2cl	C	T	9: 110,716,432 (GRCm39)	R247W	probably damaging	Het
Ano5	T	C	7: 51,235,079 (GRCm39)	F671L	probably damaging	Het
Arhgap26	A	G	18: 39,283,145 (GRCm39)	M361V	probably damaging	Het
Bckdk	A	G	7: 127,505,145 (GRCm39)	E175G	probably damaging	Het
Bptf	G	T	11: 106,964,022 (GRCm39)	T1724K	probably damaging	Het
Btn2a2	T	A	13: 23,670,398 (GRCm39)	I112F	probably damaging	Het
Cln8	T	A	8: 14,946,621 (GRCm39)	W212R	probably damaging	Het
Cnbd1	T	C	4: 18,886,119 (GRCm39)	E300G	probably benign	Het
Cnksr3	T	C	10: 7,092,993 (GRCm39)	I173V	probably benign	Het
Cntn2	T	A	1: 132,451,170 (GRCm39)	D484V	probably damaging	Het
Cyp4a14	C	A	4: 115,348,607 (GRCm39)	G319V	probably damaging	Het
Cyp4f37	G	A	17: 32,848,957 (GRCm39)	R275Q	possibly damaging	Het
Def8	C	T	8: 124,186,809 (GRCm39)		probably benign	Het
Dnaaf4	T	C	9: 72,879,280 (GRCm39)	V356A	probably damaging	Het
Dnah10	T	C	5: 124,868,855 (GRCm39)		probably null	Het
Dock6	A	G	9: 21,735,712 (GRCm39)	V1012A	probably benign	Het
Dus3l	T	A	17: 57,076,579 (GRCm39)	N586K	probably damaging	Het
Dyrk2	T	A	10: 118,696,173 (GRCm39)	I362F	probably damaging	Het
Eeig2	A	T	3: 108,887,468 (GRCm39)	S265R	probably benign	Het
Erc2	T	A	14: 27,498,815 (GRCm39)	D230E	probably damaging	Het
Fat1	A	G	8: 45,497,073 (GRCm39)	H4186R	probably benign	Het
Fbxo44	A	G	4: 148,241,052 (GRCm39)	F179S	probably damaging	Het
Fech	A	G	18: 64,611,720 (GRCm39)		probably null	Het
Fer1l5	T	A	1: 36,424,254 (GRCm39)	C289*	probably null	Het
Fhl5	T	A	4: 25,214,756 (GRCm39)	D7V	probably benign	Het
Flvcr1	G	T	1: 190,741,748 (GRCm39)	T514K	probably damaging	Het
Fmo1	A	T	1: 162,667,185 (GRCm39)		probably null	Het
Gabra6	G	A	11: 42,198,268 (GRCm39)	T384M	probably benign	Het
Gli3	A	G	13: 15,723,210 (GRCm39)	Y117C	probably damaging	Het
Gnao1	A	G	8: 94,622,873 (GRCm39)	D59G	probably benign	Het
Gria2	T	C	3: 80,614,556 (GRCm39)	I495V	possibly damaging	Het
Hnf1b	C	A	11: 83,754,811 (GRCm39)	H161Q	probably benign	Het
Itga8	T	A	2: 12,235,019 (GRCm39)	D413V	possibly damaging	Het
Itpr3	A	T	17: 27,329,895 (GRCm39)	Q1563L	possibly damaging	Het
Kctd16	A	G	18: 40,663,882 (GRCm39)	N337S	probably benign	Het
Klra4	C	T	6: 130,030,016 (GRCm39)	V190M	possibly damaging	Het
Krtap4-9	T	A	11: 99,676,462 (GRCm39)		probably benign	Het
L3mbtl1	GGCCG	GG	2: 162,809,256 (GRCm39)		probably benign	Het
Mchr1	T	C	15: 81,122,044 (GRCm39)	F265L	probably damaging	Het
Megf8	T	A	7: 25,025,866 (GRCm39)	Y83*	probably null	Het
Mettl18	A	G	1: 163,824,746 (GRCm39)	M356V	probably null	Het
Mrm1	G	A	11: 84,710,018 (GRCm39)	R61W	probably damaging	Het
Muc4	A	T	16: 32,570,523 (GRCm39)	T528S	probably benign	Het
Myef2	A	T	2: 124,937,651 (GRCm39)	L530*	probably null	Het
Nhlrc4	T	C	17: 26,162,693 (GRCm39)	E18G	probably benign	Het
Nisch	C	T	14: 30,895,102 (GRCm39)	V1065I	probably benign	Het
Nlgn2	C	T	11: 69,724,975 (GRCm39)	R97H	probably damaging	Het
Nos2	T	C	11: 78,828,741 (GRCm39)	L321S	probably damaging	Het
Oaz3	T	C	3: 94,343,717 (GRCm39)	M49V	possibly damaging	Het
Olfm5	A	G	7: 103,803,362 (GRCm39)	V367A	probably damaging	Het
Omd	C	T	13: 49,743,112 (GRCm39)	P54L	possibly damaging	Het
Or10ak12	C	T	4: 118,666,575 (GRCm39)	R162H	probably benign	Het
Or11g26	C	A	14: 50,753,249 (GRCm39)	A196D	probably benign	Het
Or2g7	C	A	17: 38,378,641 (GRCm39)	A193D	probably benign	Het
Or51f23	A	T	7: 102,453,481 (GRCm39)	R265S	probably damaging	Het
Or7d10	A	G	9: 19,832,206 (GRCm39)	K234E	probably damaging	Het
Pard3b	T	A	1: 61,807,289 (GRCm39)		probably benign	Het
Pcdhb18	A	C	18: 37,624,988 (GRCm39)	I773L	possibly damaging	Het
Pde11a	T	C	2: 75,970,175 (GRCm39)		probably null	Het
Pfkfb4	A	C	9: 108,859,462 (GRCm39)		probably benign	Het
Phb2	T	G	6: 124,692,612 (GRCm39)	I260S	probably damaging	Het
Pkd1l1	G	A	11: 8,908,969 (GRCm39)	T345I	unknown	Het
Pla2g6	T	C	15: 79,187,728 (GRCm39)		probably benign	Het
Pou4f2	G	A	8: 79,163,020 (GRCm39)	S5F	unknown	Het
Ppp1r9a	A	T	6: 5,157,002 (GRCm39)		probably null	Het
Pramel5	A	G	4: 143,999,553 (GRCm39)	I178T	probably benign	Het
Prom2	C	T	2: 127,372,053 (GRCm39)	W745*	probably null	Het
Pros1	T	A	16: 62,748,424 (GRCm39)	N632K	probably damaging	Het
Rab4b	A	G	7: 26,873,927 (GRCm39)	I117T	probably benign	Het
Rbm25	T	A	12: 83,724,640 (GRCm39)	H796Q	possibly damaging	Het
Rnf151	A	T	17: 24,937,004 (GRCm39)		probably null	Het
Rps6ka1	A	T	4: 133,598,882 (GRCm39)	L97I	probably damaging	Het
Scart1	C	T	7: 139,810,359 (GRCm39)	P984S	probably benign	Het
Semp2l2a	T	A	8: 13,887,263 (GRCm39)	D276V	probably benign	Het
Sergef	T	A	7: 46,092,888 (GRCm39)	T374S	probably benign	Het
Sh3rf3	G	T	10: 58,966,808 (GRCm39)	G717C	probably damaging	Het
Slc29a4	C	T	5: 142,707,157 (GRCm39)	T500I	possibly damaging	Het
Smc1b	T	A	15: 84,970,322 (GRCm39)	D977V	probably damaging	Het
Spata31d1d	C	T	13: 59,874,829 (GRCm39)	C902Y	probably benign	Het
St14	A	T	9: 31,015,056 (GRCm39)	V314D	probably damaging	Het
Stat3	A	T	11: 100,784,496 (GRCm39)	I602N	possibly damaging	Het
Stx4a	T	A	7: 127,445,661 (GRCm39)	I189N	probably damaging	Het
Tacc1	A	G	8: 25,672,215 (GRCm39)	S338P	probably benign	Het
Tcirg1	T	A	19: 3,952,424 (GRCm39)	T315S	possibly damaging	Het
Tenm4	A	T	7: 96,503,926 (GRCm39)	N1295I	probably damaging	Het
Tm7sf3	T	C	6: 146,505,409 (GRCm39)	K516E	possibly damaging	Het
Tmem198b	T	C	10: 128,637,323 (GRCm39)	E272G	possibly damaging	Het
Tnip3	A	G	6: 65,582,937 (GRCm39)	Q237R	probably damaging	Het
Trim15	C	T	17: 37,173,252 (GRCm39)		probably null	Het
Trim30a	T	A	7: 104,070,657 (GRCm39)	N252I	possibly damaging	Het
Ttc39a	A	G	4: 109,288,075 (GRCm39)	E227G	probably benign	Het
Ttll13	A	G	7: 79,902,914 (GRCm39)	E194G	probably damaging	Het
Upf1	G	A	8: 70,796,912 (GRCm39)	T107I	probably benign	Het
Vac14	A	G	8: 111,436,981 (GRCm39)	I565V	probably damaging	Het
Zcchc14	A	T	8: 122,338,097 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGATTATGCAGAAACAGACCAGG -3'
(R):5'- ACCAGGCCTAGAAGTGTAGG -3'

Sequencing Primer
(F):5'- ACCAGGGAGTGCTGAGTGTG -3'
(R):5'- CTGTCTACCTGAGAGGCTTGAAC -3'

Posted On

2017-02-28