Mutagenetix > Incidental Mutation

Incidental Mutation 'R1522:Ankfy1'

167546

Institutional Source

Beutler Lab

Gene Symbol

Ankfy1

Ensembl Gene

ENSMUSG00000020790

Gene Name

ankyrin repeat and FYVE domain containing 1

Synonyms

Ankhzn

MMRRC Submission

040871-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72690006-72772146 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 72755867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 859 (R859*)

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

noncoding transcript
Transcript: ENSMUST00000147195

Predicted Effect

probably null
Transcript: ENSMUST00000155998
AA Change: R859*

SMART Domains

Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: R859*

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: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,162,586 (GRCm38)	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,610,694 (GRCm38)	W22R	probably damaging	Het
AA986860	A	G	1: 130,743,094 (GRCm38)	E351G	probably damaging	Het
Acsl5	T	C	19: 55,280,492 (GRCm38)	V195A	probably benign	Het
Adamts10	A	G	17: 33,537,319 (GRCm38)	D312G	probably benign	Het
Adgrb1	A	G	15: 74,580,617 (GRCm38)	M211V	probably damaging	Het
Atp8b1	T	A	18: 64,550,432 (GRCm38)	I742L	probably benign	Het
B3galnt2	T	A	13: 13,970,769 (GRCm38)	V89E	probably damaging	Het
BC024978	A	G	7: 27,202,680 (GRCm38)	H244R	probably damaging	Het
Brinp3	A	C	1: 146,901,890 (GRCm38)	T692P	probably damaging	Het
C9	T	A	15: 6,486,762 (GRCm38)	F349I	probably damaging	Het
Cacna1a	T	A	8: 84,633,433 (GRCm38)	M1976K	probably benign	Het
Ccdc180	T	C	4: 45,927,975 (GRCm38)	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,931,276 (GRCm38)	V1846A	probably benign	Het
Ces1f	A	T	8: 93,271,889 (GRCm38)	Y160N	possibly damaging	Het
Cfap45	A	G	1: 172,540,572 (GRCm38)	E377G	probably damaging	Het
Clca3a1	T	A	3: 144,755,171 (GRCm38)	M240L	probably benign	Het
Clnk	G	A	5: 38,794,966 (GRCm38)	T10M	probably damaging	Het
Cntrl	T	A	2: 35,155,279 (GRCm38)	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,055,254 (GRCm38)	G375S	probably damaging	Het
Col6a5	T	A	9: 105,939,994 (GRCm38)	I373F	unknown	Het
Dmxl1	C	T	18: 49,852,367 (GRCm38)	A227V	probably benign	Het
Dok5	A	G	2: 170,732,132 (GRCm38)	N4D	probably benign	Het
Dpysl3	A	T	18: 43,363,557 (GRCm38)	V138D	probably damaging	Het
Efs	A	T	14: 54,919,715 (GRCm38)	Y380N	probably damaging	Het
Eme2	G	A	17: 24,892,918 (GRCm38)	S263F	probably damaging	Het
Farp2	A	G	1: 93,618,553 (GRCm38)	Q855R	possibly damaging	Het
Fcrls	A	C	3: 87,256,707 (GRCm38)	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,944,229 (GRCm38)	A113V	probably damaging	Het
Gatsl2	T	G	5: 134,125,887 (GRCm38)	S43R	probably damaging	Het
Gda	T	A	19: 21,412,539 (GRCm38)	E219D	probably benign	Het
Gli1	A	T	10: 127,332,577 (GRCm38)	M469K	probably damaging	Het
Gm4847	A	T	1: 166,641,650 (GRCm38)	S148R	probably damaging	Het
Golga2	T	C	2: 32,302,204 (GRCm38)	V325A	probably benign	Het
Hpf1	A	G	8: 60,896,749 (GRCm38)	D137G	probably damaging	Het
Htr2a	C	G	14: 74,705,853 (GRCm38)	S291*	probably null	Het
Itga5	G	A	15: 103,356,782 (GRCm38)	Q233*	probably null	Het
Jazf1	C	A	6: 52,812,183 (GRCm38)	R102L	probably damaging	Het
Kif6	T	G	17: 49,714,113 (GRCm38)	L322R	probably damaging	Het
Ktn1	A	C	14: 47,667,416 (GRCm38)	K217T	probably damaging	Het
Lig4	A	T	8: 9,973,012 (GRCm38)	V256E	possibly damaging	Het
Lrp1	A	T	10: 127,575,286 (GRCm38)	D1399E	probably benign	Het
Lrp1	G	T	10: 127,567,364 (GRCm38)	D2113E	probably damaging	Het
Mmel1	A	G	4: 154,894,986 (GRCm38)	E717G	probably damaging	Het
Mndal	G	T	1: 173,871,466 (GRCm38)	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,511,623 (GRCm38)		probably null	Het
Nedd1	T	C	10: 92,719,614 (GRCm38)	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,435,909 (GRCm38)	N551K	probably damaging	Het
Nup210	G	A	6: 91,069,166 (GRCm38)	P595L	possibly damaging	Het
Olfr117	A	T	17: 37,659,770 (GRCm38)	C188S	probably damaging	Het
Olfr1302	A	T	2: 111,780,348 (GRCm38)		probably null	Het
Olfr199	T	G	16: 59,215,984 (GRCm38)	T210P	probably damaging	Het
Olfr477	A	G	7: 107,990,533 (GRCm38)	H56R	probably benign	Het
Olfr697	A	G	7: 106,741,005 (GRCm38)	C310R	probably benign	Het
Pank3	G	A	11: 35,781,681 (GRCm38)	V304M	probably benign	Het
Phf3	G	A	1: 30,805,648 (GRCm38)	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,525,157 (GRCm38)	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,497,425 (GRCm38)	D73G	probably damaging	Het
Prelid2	T	G	18: 41,881,267 (GRCm38)	M165L	probably benign	Het
Prkd3	A	C	17: 78,952,696 (GRCm38)	L826R	probably damaging	Het
Ptchd4	A	T	17: 42,503,542 (GRCm38)	N778I	probably damaging	Het
Ptprm	T	C	17: 66,693,871 (GRCm38)	D1063G	possibly damaging	Het
Rab27a	C	A	9: 73,075,482 (GRCm38)	T23N	probably damaging	Het
Rasgrf2	A	T	13: 91,896,086 (GRCm38)	F949L	probably benign	Het
Rbm33	A	G	5: 28,337,004 (GRCm38)	N68D	probably damaging	Het
Rgl1	A	T	1: 152,586,533 (GRCm38)	L109Q	probably damaging	Het
Rnf20	A	G	4: 49,638,197 (GRCm38)	N103S	possibly damaging	Het
Sbno1	G	A	5: 124,392,612 (GRCm38)	L875F	probably damaging	Het
Scube1	T	A	15: 83,628,076 (GRCm38)		probably null	Het
Selenbp1	G	A	3: 94,937,358 (GRCm38)	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,151,546 (GRCm38)	I178F	probably damaging	Het
Shisa8	C	T	15: 82,208,501 (GRCm38)	G63D	probably damaging	Het
Snx14	T	C	9: 88,402,224 (GRCm38)	R464G	possibly damaging	Het
Snx25	A	T	8: 46,124,082 (GRCm38)	M1K	probably null	Het
Sorcs3	C	A	19: 48,706,009 (GRCm38)	T574K	possibly damaging	Het
Syne2	A	G	12: 76,103,783 (GRCm38)	E6528G	probably damaging	Het
Syt5	T	C	7: 4,540,246 (GRCm38)	E338G	probably damaging	Het
Tbk1	T	C	10: 121,551,318 (GRCm38)	K691E	probably benign	Het
Tenm3	G	A	8: 48,395,576 (GRCm38)	T11I	probably damaging	Het
Thrb	A	G	14: 18,002,597 (GRCm38)	H87R	probably damaging	Het
Tlr4	T	A	4: 66,839,696 (GRCm38)	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,406,002 (GRCm38)	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,886,471 (GRCm38)	R66*	probably null	Het
Tmem39b	G	T	4: 129,684,482 (GRCm38)	D315E	probably benign	Het
Tnxb	T	C	17: 34,718,638 (GRCm38)	F3834L	probably damaging	Het
Trim36	A	T	18: 46,186,183 (GRCm38)	L225*	probably null	Het
Trim42	A	T	9: 97,365,679 (GRCm38)	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,640 (GRCm38)	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,978,334 (GRCm38)	I1091T	probably benign	Het
Tst	T	C	15: 78,399,943 (GRCm38)	E228G	possibly damaging	Het
Ttn	T	C	2: 76,871,716 (GRCm38)		probably benign	Het
Uap1	A	C	1: 170,150,941 (GRCm38)		probably null	Het
Ush2a	T	C	1: 188,797,814 (GRCm38)	S3267P	possibly damaging	Het
Usp5	T	C	6: 124,825,166 (GRCm38)	T38A	probably benign	Het
Uvssa	A	T	5: 33,387,808 (GRCm38)	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,843,268 (GRCm38)	H113P	probably damaging	Het
Vps13d	A	T	4: 145,098,172 (GRCm38)		probably null	Het
Zfp182	T	A	X: 21,031,560 (GRCm38)	I166L	probably benign	Het
Zfp811	A	T	17: 32,797,648 (GRCm38)	Y472N	probably damaging	Het

Other mutations in Ankfy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Ankfy1	APN	11	72,728,772 (GRCm38)	missense	probably benign	0.03
IGL00837:Ankfy1	APN	11	72,755,898 (GRCm38)	splice site	probably benign
IGL01061:Ankfy1	APN	11	72,728,860 (GRCm38)	nonsense	probably null
IGL01305:Ankfy1	APN	11	72,764,791 (GRCm38)	missense	probably damaging	1.00
IGL01599:Ankfy1	APN	11	72,738,365 (GRCm38)	missense	probably benign
IGL01918:Ankfy1	APN	11	72,740,455 (GRCm38)	missense	probably benign	0.09
IGL03007:Ankfy1	APN	11	72,750,521 (GRCm38)	missense	probably damaging	0.98
IGL03134:Ankfy1	APN	11	72,712,185 (GRCm38)	missense	probably damaging	1.00
IGL03182:Ankfy1	APN	11	72,728,754 (GRCm38)	splice site	probably benign
Betruenken	UTSW	11	72,753,608 (GRCm38)	missense	possibly damaging	0.78
Inebriated	UTSW	11	72,752,105 (GRCm38)	missense	probably benign
Smashed	UTSW	11	72,712,204 (GRCm38)	missense	probably damaging	1.00
woozy	UTSW	11	72,754,459 (GRCm38)	missense	probably benign	0.33
ANU22:Ankfy1	UTSW	11	72,764,791 (GRCm38)	missense	probably damaging	1.00
I2289:Ankfy1	UTSW	11	72,730,485 (GRCm38)	missense	probably benign	0.01
R0062:Ankfy1	UTSW	11	72,712,204 (GRCm38)	missense	probably damaging	1.00
R0062:Ankfy1	UTSW	11	72,712,204 (GRCm38)	missense	probably damaging	1.00
R0569:Ankfy1	UTSW	11	72,753,608 (GRCm38)	missense	possibly damaging	0.78
R0787:Ankfy1	UTSW	11	72,760,296 (GRCm38)	missense	probably damaging	1.00
R1303:Ankfy1	UTSW	11	72,750,071 (GRCm38)	splice site	probably null
R1552:Ankfy1	UTSW	11	72,754,495 (GRCm38)	critical splice donor site	probably null
R1565:Ankfy1	UTSW	11	72,757,318 (GRCm38)	missense	probably damaging	1.00
R1899:Ankfy1	UTSW	11	72,754,407 (GRCm38)	nonsense	probably null
R1900:Ankfy1	UTSW	11	72,754,407 (GRCm38)	nonsense	probably null
R1950:Ankfy1	UTSW	11	72,760,329 (GRCm38)	missense	probably damaging	1.00
R2421:Ankfy1	UTSW	11	72,755,896 (GRCm38)	splice site	probably benign
R3429:Ankfy1	UTSW	11	72,712,154 (GRCm38)	splice site	probably benign
R3801:Ankfy1	UTSW	11	72,749,420 (GRCm38)	missense	probably benign
R4079:Ankfy1	UTSW	11	72,690,009 (GRCm38)	utr 5 prime	probably benign
R4119:Ankfy1	UTSW	11	72,714,484 (GRCm38)	critical splice donor site	probably null
R4120:Ankfy1	UTSW	11	72,714,484 (GRCm38)	critical splice donor site	probably null
R4165:Ankfy1	UTSW	11	72,714,484 (GRCm38)	critical splice donor site	probably null
R4233:Ankfy1	UTSW	11	72,714,484 (GRCm38)	critical splice donor site	probably null
R4234:Ankfy1	UTSW	11	72,714,484 (GRCm38)	critical splice donor site	probably null
R4236:Ankfy1	UTSW	11	72,714,484 (GRCm38)	critical splice donor site	probably null
R4735:Ankfy1	UTSW	11	72,730,611 (GRCm38)	missense	probably benign
R4765:Ankfy1	UTSW	11	72,712,291 (GRCm38)	missense	probably benign	0.05
R4904:Ankfy1	UTSW	11	72,752,105 (GRCm38)	missense	probably benign
R5057:Ankfy1	UTSW	11	72,759,919 (GRCm38)	missense	probably damaging	1.00
R5454:Ankfy1	UTSW	11	72,746,931 (GRCm38)	missense	probably benign	0.00
R5471:Ankfy1	UTSW	11	72,728,791 (GRCm38)	missense	probably benign	0.01
R5737:Ankfy1	UTSW	11	72,732,274 (GRCm38)	missense	probably damaging	0.98
R5770:Ankfy1	UTSW	11	72,760,256 (GRCm38)	missense	probably damaging	1.00
R5896:Ankfy1	UTSW	11	72,759,985 (GRCm38)	missense	probably damaging	0.98
R5930:Ankfy1	UTSW	11	72,712,245 (GRCm38)	missense	probably benign	0.00
R5960:Ankfy1	UTSW	11	72,757,352 (GRCm38)	missense	possibly damaging	0.91
R6169:Ankfy1	UTSW	11	72,754,459 (GRCm38)	missense	probably benign	0.33
R6176:Ankfy1	UTSW	11	72,754,459 (GRCm38)	missense	probably benign	0.33
R6177:Ankfy1	UTSW	11	72,754,459 (GRCm38)	missense	probably benign	0.33
R6178:Ankfy1	UTSW	11	72,754,459 (GRCm38)	missense	probably benign	0.33
R6477:Ankfy1	UTSW	11	72,730,482 (GRCm38)	missense	possibly damaging	0.76
R6513:Ankfy1	UTSW	11	72,730,482 (GRCm38)	missense	possibly damaging	0.76
R6521:Ankfy1	UTSW	11	72,730,482 (GRCm38)	missense	possibly damaging	0.76
R6523:Ankfy1	UTSW	11	72,730,482 (GRCm38)	missense	possibly damaging	0.76
R6524:Ankfy1	UTSW	11	72,730,482 (GRCm38)	missense	possibly damaging	0.76
R7006:Ankfy1	UTSW	11	72,740,464 (GRCm38)	missense	probably benign	0.01
R7329:Ankfy1	UTSW	11	72,712,208 (GRCm38)	missense	probably damaging	0.96
R7393:Ankfy1	UTSW	11	72,738,308 (GRCm38)	missense	possibly damaging	0.70
R7410:Ankfy1	UTSW	11	72,761,504 (GRCm38)	missense	probably damaging	1.00
R7488:Ankfy1	UTSW	11	72,759,943 (GRCm38)	missense	probably benign	0.05
R7731:Ankfy1	UTSW	11	72,712,281 (GRCm38)	missense	probably benign	0.00
R7810:Ankfy1	UTSW	11	72,754,455 (GRCm38)	nonsense	probably null
R8236:Ankfy1	UTSW	11	72,754,355 (GRCm38)	missense	possibly damaging	0.90
R8709:Ankfy1	UTSW	11	72,755,706 (GRCm38)	missense	possibly damaging	0.91
R8717:Ankfy1	UTSW	11	72,730,474 (GRCm38)	missense	probably benign	0.01
R8839:Ankfy1	UTSW	11	72,730,566 (GRCm38)	missense	probably benign	0.39
R8862:Ankfy1	UTSW	11	72,753,643 (GRCm38)	missense	probably benign	0.18
R8954:Ankfy1	UTSW	11	72,750,491 (GRCm38)	missense	possibly damaging	0.91
R9548:Ankfy1	UTSW	11	72,750,179 (GRCm38)	critical splice donor site	probably null
R9762:Ankfy1	UTSW	11	72,730,575 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGACATGGGAGTTTGTGCCTCCTC -3'
(R):5'- GGCAACATCCTTTAAGCAAGCTGG -3'

Sequencing Primer
(F):5'- CTAGGATGCAGAAGGGAGAAC -3'
(R):5'- AATGCCAAGCCTCTTTGAGC -3'

Posted On

2014-04-13