Mutagenetix > Incidental Mutation

Incidental Mutation 'R1899:Ankfy1'

214120

Institutional Source

Beutler Lab

Gene Symbol

Ankfy1

Ensembl Gene

ENSMUSG00000020790

Gene Name

ankyrin repeat and FYVE domain containing 1

Synonyms

Ankhzn

MMRRC Submission

039919-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72580832-72662972 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 72645233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 771 (Q771*)

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 null
Transcript: ENSMUST00000155998
AA Change: Q771*

SMART Domains

Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: Q771*

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

0.9755

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

94% (94/100)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	A	5: 109,884,664 (GRCm39)	Q398L	probably benign	Het
4930596D02Rik	T	G	14: 35,532,089 (GRCm39)	K162T	probably damaging	Het
Abca8b	G	T	11: 109,828,744 (GRCm39)	T1353K	possibly damaging	Het
Abcg3	A	C	5: 105,086,065 (GRCm39)	C565G	probably damaging	Het
Actr3b	G	A	5: 26,034,536 (GRCm39)	V185I	possibly damaging	Het
Akap6	A	T	12: 53,188,635 (GRCm39)	E2016D	possibly damaging	Het
Aldh3b2	T	C	19: 4,028,662 (GRCm39)	V148A	possibly damaging	Het
Anks1b	A	G	10: 90,096,618 (GRCm39)	D425G	probably damaging	Het
Arrb1	T	C	7: 99,231,504 (GRCm39)		probably benign	Het
Atg2a	C	A	19: 6,295,097 (GRCm39)	T170N	probably damaging	Het
Atp8b5	C	T	4: 43,361,804 (GRCm39)	R617C	possibly damaging	Het
Bicra	T	C	7: 15,721,676 (GRCm39)	T614A	possibly damaging	Het
Cacna1i	A	G	15: 80,275,843 (GRCm39)	D167G	possibly damaging	Het
Calr4	T	G	4: 109,103,490 (GRCm39)		probably null	Het
Camsap3	G	T	8: 3,653,922 (GRCm39)	E515*	probably null	Het
Casp8ap2	T	C	4: 32,643,647 (GRCm39)	S907P	probably damaging	Het
Cdk19	T	A	10: 40,355,776 (GRCm39)		probably benign	Het
Chst14	A	G	2: 118,757,496 (GRCm39)	M122V	possibly damaging	Het
Cntn4	A	G	6: 106,652,774 (GRCm39)	M748V	probably benign	Het
Col7a1	A	G	9: 108,807,956 (GRCm39)	D2552G	unknown	Het
Cpeb2	C	A	5: 43,434,930 (GRCm39)	P600Q	probably damaging	Het
Cyp2a5	C	T	7: 26,538,458 (GRCm39)	R274*	probably null	Het
Dele1	T	C	18: 38,391,395 (GRCm39)	W378R	probably benign	Het
Dexi	A	G	16: 10,360,382 (GRCm39)	F58S	probably damaging	Het
Dlg5	C	A	14: 24,198,368 (GRCm39)	G1522W	probably damaging	Het
Dock2	T	C	11: 34,244,286 (GRCm39)	H1048R	probably benign	Het
Dpp4	T	C	2: 62,175,394 (GRCm39)		probably benign	Het
Dusp10	A	T	1: 183,801,377 (GRCm39)	K381N	possibly damaging	Het
Ercc4	A	G	16: 12,965,651 (GRCm39)	E761G	probably damaging	Het
Ern2	T	C	7: 121,783,065 (GRCm39)		probably benign	Het
Fam83f	A	T	15: 80,576,281 (GRCm39)	T311S	probably damaging	Het
Fat2	T	C	11: 55,153,004 (GRCm39)	D3736G	probably benign	Het
Fgf11	G	T	11: 69,692,279 (GRCm39)	T58K	probably benign	Het
Galntl5	C	G	5: 25,403,530 (GRCm39)	S167*	probably null	Het
Glg1	T	G	8: 111,892,306 (GRCm39)	E846D	probably benign	Het
Grm8	C	A	6: 28,125,894 (GRCm39)	E77D	probably damaging	Het
Hmcn1	A	T	1: 150,533,202 (GRCm39)	D3028E	probably damaging	Het
Htt	A	G	5: 35,064,429 (GRCm39)	I2943V	probably benign	Het
Ift80	T	C	3: 68,825,846 (GRCm39)	K498R	probably benign	Het
Ipo9	A	T	1: 135,327,884 (GRCm39)	M509K	probably damaging	Het
Kcnj3	T	C	2: 55,327,256 (GRCm39)	V15A	probably damaging	Het
Kcnn3	A	T	3: 89,427,762 (GRCm39)		probably benign	Het
Larp1b	T	A	3: 40,918,519 (GRCm39)	D53E	probably benign	Het
Ltf	T	C	9: 110,851,913 (GRCm39)	F117L	possibly damaging	Het
Maml1	A	G	11: 50,156,957 (GRCm39)	L406P	probably damaging	Het
Mnx1	G	A	5: 29,678,955 (GRCm39)	A376V	unknown	Het
Mroh2a	G	A	1: 88,163,098 (GRCm39)	R376H	probably benign	Het
Mrpl4	A	G	9: 20,918,127 (GRCm39)	Y111C	probably damaging	Het
Mto1	T	C	9: 78,368,799 (GRCm39)		probably benign	Het
Nalcn	A	T	14: 123,553,538 (GRCm39)	M972K	possibly damaging	Het
Nemf	T	C	12: 69,393,152 (GRCm39)	I225V	probably null	Het
Nipal4	T	G	11: 46,041,058 (GRCm39)	D379A	probably damaging	Het
Nktr	A	G	9: 121,577,932 (GRCm39)		probably benign	Het
Nlrp5	A	G	7: 23,104,222 (GRCm39)	T28A	probably benign	Het
Nxph1	T	A	6: 9,247,622 (GRCm39)	Y198N	probably damaging	Het
Or4c123	T	C	2: 89,127,014 (GRCm39)	N200S	probably damaging	Het
Or5an10	T	C	19: 12,275,707 (GRCm39)	Y263C	probably damaging	Het
Or8u10	A	T	2: 85,916,064 (GRCm39)	V19D	probably benign	Het
P2rx7	A	G	5: 122,811,799 (GRCm39)	Y370C	probably benign	Het
Piezo1	T	C	8: 123,209,384 (GRCm39)		probably benign	Het
Piezo1	T	C	8: 123,216,305 (GRCm39)	D1401G	probably damaging	Het
Plxnd1	A	G	6: 115,946,324 (GRCm39)	L879P	probably benign	Het
Polr2a	A	T	11: 69,634,772 (GRCm39)	I636N	probably damaging	Het
Prex2	G	T	1: 11,232,590 (GRCm39)	E886*	probably null	Het
Proca1	A	T	11: 78,095,847 (GRCm39)	I73F	probably damaging	Het
Prss55	A	T	14: 64,316,839 (GRCm39)	V101E	probably benign	Het
Psg26	T	A	7: 18,212,350 (GRCm39)	H335L	probably benign	Het
Rai1	A	G	11: 60,076,746 (GRCm39)	E270G	probably benign	Het
Reep1	A	G	6: 71,757,781 (GRCm39)	N127D	probably benign	Het
Rims1	G	T	1: 22,498,725 (GRCm39)	P769Q	probably damaging	Het
Robo4	A	T	9: 37,315,366 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,606,222 (GRCm39)	D888E	probably benign	Het
Scamp3	A	G	3: 89,087,567 (GRCm39)	N135D	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema4f	A	G	6: 82,895,010 (GRCm39)	M395T	probably benign	Het
Sgip1	T	C	4: 102,825,534 (GRCm39)		probably null	Het
Sik2	A	T	9: 50,906,974 (GRCm39)		probably benign	Het
Smtn	G	T	11: 3,481,326 (GRCm39)	A223D	possibly damaging	Het
Spen	T	C	4: 141,197,654 (GRCm39)	T3405A	probably benign	Het
Srebf1	A	G	11: 60,094,312 (GRCm39)	L601P	probably damaging	Het
Srsf11	A	T	3: 157,737,217 (GRCm39)		probably benign	Het
Tacc2	T	G	7: 130,225,932 (GRCm39)	S891R	possibly damaging	Het
Tbc1d17	T	A	7: 44,491,057 (GRCm39)		probably benign	Het
Tgfbr3l	C	A	8: 4,299,600 (GRCm39)	R128S	probably damaging	Het
Thsd1	G	A	8: 22,742,334 (GRCm39)		probably benign	Het
Tlx3	T	C	11: 33,153,072 (GRCm39)	S130G	probably benign	Het
Tmem25	A	T	9: 44,709,513 (GRCm39)		probably null	Het
Trak2	A	T	1: 58,985,495 (GRCm39)	M1K	probably null	Het
Trappc12	C	T	12: 28,796,984 (GRCm39)	E183K	probably damaging	Het
Ubl3	A	G	5: 148,446,090 (GRCm39)	V71A	possibly damaging	Het
Unc50	A	G	1: 37,477,880 (GRCm39)	Y254C	probably damaging	Het
Unkl	T	C	17: 25,448,434 (GRCm39)		probably null	Het
Uso1	T	A	5: 92,349,051 (GRCm39)	S819T	probably benign	Het
Yes1	A	T	5: 32,802,395 (GRCm39)	R103S	probably damaging	Het
Zfp131	A	G	13: 120,228,561 (GRCm39)	V396A	probably damaging	Het
Zfp553	T	C	7: 126,834,826 (GRCm39)	I127T	possibly damaging	Het
Zfp599	A	T	9: 22,162,845 (GRCm39)	N102K	probably benign	Het
Zmynd10	A	T	9: 107,427,236 (GRCm39)	Q288L	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
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
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'- TTGATGCTGAGGACCAGGCTAG -3'
(R):5'- CAGGCTATATGACTACTATCTGTCAC -3'

Sequencing Primer
(F):5'- CAGGCTAGCAGGGTGTGAC -3'
(R):5'- CTGTCACACTAAAACATAGTTTGTGG -3'

Posted On

2014-07-14