Mutagenetix > Incidental Mutation

Incidental Mutation 'R4165:Ankfy1'

368320

Institutional Source

Beutler Lab

Gene Symbol

Ankfy1

Ensembl Gene

ENSMUSG00000020790

Gene Name

ankyrin repeat and FYVE domain containing 1

Synonyms

Ankhzn

MMRRC Submission

041007-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72580832-72662972 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 72605310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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: ENSMUST00000150172

Predicted Effect

probably null
Transcript: ENSMUST00000155998

SMART Domains

Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790

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

0.9499

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

97% (38/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,827,044 (GRCm39)	F4I	probably damaging	Het
Adamts8	G	T	9: 30,862,684 (GRCm39)	E296D	probably benign	Het
Alg11	T	C	8: 22,555,573 (GRCm39)	V278A	probably damaging	Het
Avil	C	T	10: 126,842,496 (GRCm39)	Q92*	probably null	Het
Cfap300	A	T	9: 8,026,071 (GRCm39)	L167Q	probably damaging	Het
CK137956	A	T	4: 127,864,522 (GRCm39)	S36T	possibly damaging	Het
Epb41l3	T	C	17: 69,514,883 (GRCm39)	S7P	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fsd2	T	C	7: 81,195,608 (GRCm39)	T434A	probably damaging	Het
Gm5174	A	G	10: 86,492,797 (GRCm39)		noncoding transcript	Het
Gpaa1	A	C	15: 76,216,667 (GRCm39)		probably benign	Het
Grina	T	A	15: 76,133,529 (GRCm39)	L334Q	probably damaging	Het
Gvin-ps5	T	A	7: 105,929,895 (GRCm39)		noncoding transcript	Het
Igkv15-103	G	T	6: 68,414,824 (GRCm39)	G88*	probably null	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kdm3b	A	T	18: 34,928,797 (GRCm39)	I183F	probably benign	Het
Kyat3	A	G	3: 142,432,066 (GRCm39)		probably null	Het
Larp7	A	G	3: 127,330,611 (GRCm39)	Y569H	probably benign	Het
Loxhd1	A	T	18: 77,460,025 (GRCm39)	I758F	probably damaging	Het
Nr1d2	T	C	14: 18,215,446 (GRCm38)	I189V	probably benign	Het
Odad2	A	T	18: 7,217,008 (GRCm39)	I668K	probably damaging	Het
Pcdhb19	T	A	18: 37,632,243 (GRCm39)	N679K	probably benign	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prap1	T	A	7: 139,676,091 (GRCm39)	V35E	probably benign	Het
Prdm1	T	A	10: 44,317,572 (GRCm39)	Y417F	probably benign	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rps3	T	C	7: 99,132,816 (GRCm39)	I5V	probably benign	Het
Sema3a	A	T	5: 13,523,364 (GRCm39)		probably null	Het
Serpina3g	A	T	12: 104,206,546 (GRCm39)	T116S	probably benign	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Slc22a28	A	G	19: 8,040,773 (GRCm39)	S493P	possibly damaging	Het
Snapc1	G	T	12: 74,029,354 (GRCm39)		probably null	Het
Sobp	C	T	10: 42,897,644 (GRCm39)	G647D	probably damaging	Het
Tomm22	C	A	15: 79,555,206 (GRCm39)		probably benign	Het
Trappc11	T	C	8: 47,978,003 (GRCm39)		probably benign	Het
Txnl4a	T	A	18: 80,265,471 (GRCm39)	M112K	probably benign	Het
Vmn2r16	T	C	5: 109,478,427 (GRCm39)	F61L	possibly damaging	Het
Zfp709	C	T	8: 72,644,649 (GRCm39)	Q693*	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
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
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'- GTCAGGTGACAATTCTAACTTATCTAG -3'
(R):5'- TCTCTAACCTCCAAACATATGGGTAC -3'

Sequencing Primer
(F):5'- CACATCAGTGCTCACAAG -3'
(R):5'- TGGTGGATCACAACCATCTG -3'

Posted On

2016-01-25