Mutagenetix > Incidental Mutations

Incidental Mutation 'R1565:Ankfy1'

175210

Institutional Source

Beutler Lab

Gene Symbol

Ankfy1

Ensembl Gene

ENSMUSG00000020790

Gene Name

ankyrin repeat and FYVE domain containing 1

Synonyms

Ankhzn

MMRRC Submission

039604-MU

Accession Numbers

Genbank: NM_009671.5

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1565 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72690006-72772146 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72757318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 875 (L875H)

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 damaging
Transcript: ENSMUST00000155998
AA Change: L875H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: L875H

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

0.9682

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.0%

Validation Efficiency

96% (82/85)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,880,501	G270S	probably benign	Het
Abtb1	T	C	6: 88,836,554	T401A	probably benign	Het
Adamts14	A	T	10: 61,270,897	M148K	probably damaging	Het
Adcy5	A	G	16: 35,268,957	E508G	probably damaging	Het
Cacng3	A	T	7: 122,768,401	D168V	probably damaging	Het
Clpb	G	A	7: 101,785,461	R488Q	probably benign	Het
Cpxm2	A	T	7: 132,062,145	Y350N	probably damaging	Het
D130040H23Rik	T	A	8: 69,303,160	*406R	probably null	Het
Dnah10	T	A	5: 124,829,614	D4236E	probably damaging	Het
Dpf3	T	A	12: 83,370,617	Y27F	probably damaging	Het
Esp4	T	C	17: 40,602,595	*118Q	probably null	Het
Fam222b	T	C	11: 78,154,662	S222P	possibly damaging	Het
Flnc	T	C	6: 29,455,171	V1933A	probably damaging	Het
Gem	T	C	4: 11,713,709	F282L	possibly damaging	Het
Gli2	T	C	1: 118,841,930	T631A	possibly damaging	Het
Gm13088	G	A	4: 143,655,617	Q170*	probably null	Het
Gpld1	T	A	13: 24,956,068	V116E	probably damaging	Het
Gpr176	A	G	2: 118,280,214	M188T	probably benign	Het
Grk5	T	C	19: 61,089,972	V489A	probably damaging	Het
H2-Ke6	C	T	17: 34,027,495	V105I	possibly damaging	Het
Hpdl	T	C	4: 116,820,883	N127S	probably damaging	Het
Id4	G	T	13: 48,262,294	V151L	possibly damaging	Het
Kcnh8	G	T	17: 52,956,881	G802V	probably benign	Het
Lamc1	C	A	1: 153,242,743	S894I	probably benign	Het
Larp1b	A	G	3: 40,972,384	N184S	probably damaging	Het
Lhx1	A	T	11: 84,519,821	S226T	probably benign	Het
Lmo7	A	T	14: 101,887,521	Q472L	probably damaging	Het
Mog	G	C	17: 37,017,582	N152K	possibly damaging	Het
Mttp	A	G	3: 138,116,405		probably null	Het
Mycbp2	A	G	14: 103,252,509	V953A	possibly damaging	Het
Myo3a	A	T	2: 22,340,280	Y509F	probably damaging	Het
Myo9b	A	G	8: 71,315,192	N303S	possibly damaging	Het
Nek3	T	C	8: 22,132,201		probably null	Het
Nlrc4	A	T	17: 74,441,931	D771E	probably benign	Het
Nup160	A	T	2: 90,722,061	N1127I	possibly damaging	Het
Oas1h	A	T	5: 120,862,600	N91I	probably damaging	Het
Olfr1225	A	T	2: 89,170,627	V195D	probably benign	Het
Olfr1226	G	T	2: 89,193,883	S50R	probably damaging	Het
Olfr1342	T	A	4: 118,690,192	N87Y	probably damaging	Het
Parp4	T	C	14: 56,589,872		probably benign	Het
Pi4ka	G	A	16: 17,281,900	C96Y	probably null	Het
Pira2	A	T	7: 3,844,549	F47Y	probably damaging	Het
Pkhd1	C	A	1: 20,347,457	G2490V	probably damaging	Het
Plekhg1	C	T	10: 3,940,526	T394I	probably damaging	Het
Psmd1	T	C	1: 86,091,997		probably benign	Het
Rab3ip	A	T	10: 116,939,223	C77S	probably benign	Het
Reln	A	T	5: 21,925,213	M2700K	probably benign	Het
Rfx1	A	G	8: 84,073,946	T59A	probably benign	Het
Ric8b	G	T	10: 84,980,099	V405L	probably benign	Het
Rufy3	G	T	5: 88,640,632	A479S	probably damaging	Het
Sardh	A	T	2: 27,242,719	Y166N	probably damaging	Het
Slamf6	T	G	1: 171,934,408	V132G	possibly damaging	Het
Slc12a3	T	G	8: 94,345,877	H674Q	possibly damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Srsf9	A	G	5: 115,327,370	N21S	possibly damaging	Het
Stkld1	A	T	2: 26,950,090	T391S	probably benign	Het
Sumf2	C	A	5: 129,859,914	N230K	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569	V22A	possibly damaging	Het
Thsd7b	T	A	1: 129,596,041	S194T	possibly damaging	Het
Tmem27	A	G	X: 164,118,234	D184G	possibly damaging	Het
Tnn	T	A	1: 160,097,265	Y1173F	probably damaging	Het
Top2a	A	G	11: 99,001,054	F1122L	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Trim39	G	A	17: 36,268,854	R70W	probably damaging	Het
Ttn	G	A	2: 76,794,261	T15289I	probably damaging	Het
Ugt2b38	A	T	5: 87,411,914	V373E	probably damaging	Het
Usp54	A	G	14: 20,607,159	S24P	probably damaging	Het
Vmn2r27	C	T	6: 124,231,634	G51S	probably benign	Het
Xylt2	C	T	11: 94,667,594	A579T	probably benign	Het
Zbtb21	A	G	16: 97,952,427	S247P	probably benign	Het
Zc3h7b	C	T	15: 81,777,088	P376L	probably benign	Het
Zfp251	T	A	15: 76,853,038	R613S	probably damaging	Het
Zfp251	C	T	15: 76,853,039	R613K	possibly damaging	Het
Zfp91	T	C	19: 12,779,075	D135G	probably benign	Het

Other mutations in Ankfy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Ankfy1	APN	11	72728772	missense	probably benign	0.03
IGL00837:Ankfy1	APN	11	72755898	splice site	probably benign
IGL01061:Ankfy1	APN	11	72728860	nonsense	probably null
IGL01305:Ankfy1	APN	11	72764791	missense	probably damaging	1.00
IGL01599:Ankfy1	APN	11	72738365	missense	probably benign
IGL01918:Ankfy1	APN	11	72740455	missense	probably benign	0.09
IGL03007:Ankfy1	APN	11	72750521	missense	probably damaging	0.98
IGL03134:Ankfy1	APN	11	72712185	missense	probably damaging	1.00
IGL03182:Ankfy1	APN	11	72728754	splice site	probably benign
Betruenken	UTSW	11	72753608	missense	possibly damaging	0.78
Inebriated	UTSW	11	72752105	missense	probably benign
Smashed	UTSW	11	72712204	missense	probably damaging	1.00
woozy	UTSW	11	72754459	missense	probably benign	0.33
ANU22:Ankfy1	UTSW	11	72764791	missense	probably damaging	1.00
I2289:Ankfy1	UTSW	11	72730485	missense	probably benign	0.01
R0062:Ankfy1	UTSW	11	72712204	missense	probably damaging	1.00
R0062:Ankfy1	UTSW	11	72712204	missense	probably damaging	1.00
R0569:Ankfy1	UTSW	11	72753608	missense	possibly damaging	0.78
R0787:Ankfy1	UTSW	11	72760296	missense	probably damaging	1.00
R1303:Ankfy1	UTSW	11	72750071	splice site	probably null
R1522:Ankfy1	UTSW	11	72755867	nonsense	probably null
R1552:Ankfy1	UTSW	11	72754495	critical splice donor site	probably null
R1899:Ankfy1	UTSW	11	72754407	nonsense	probably null
R1900:Ankfy1	UTSW	11	72754407	nonsense	probably null
R1950:Ankfy1	UTSW	11	72760329	missense	probably damaging	1.00
R2421:Ankfy1	UTSW	11	72755896	splice site	probably benign
R3429:Ankfy1	UTSW	11	72712154	splice site	probably benign
R3801:Ankfy1	UTSW	11	72749420	missense	probably benign
R4079:Ankfy1	UTSW	11	72690009	utr 5 prime	probably benign
R4119:Ankfy1	UTSW	11	72714484	critical splice donor site	probably null
R4120:Ankfy1	UTSW	11	72714484	critical splice donor site	probably null
R4165:Ankfy1	UTSW	11	72714484	critical splice donor site	probably null
R4233:Ankfy1	UTSW	11	72714484	critical splice donor site	probably null
R4234:Ankfy1	UTSW	11	72714484	critical splice donor site	probably null
R4236:Ankfy1	UTSW	11	72714484	critical splice donor site	probably null
R4735:Ankfy1	UTSW	11	72730611	missense	probably benign
R4765:Ankfy1	UTSW	11	72712291	missense	probably benign	0.05
R4904:Ankfy1	UTSW	11	72752105	missense	probably benign
R5057:Ankfy1	UTSW	11	72759919	missense	probably damaging	1.00
R5454:Ankfy1	UTSW	11	72746931	missense	probably benign	0.00
R5471:Ankfy1	UTSW	11	72728791	missense	probably benign	0.01
R5737:Ankfy1	UTSW	11	72732274	missense	probably damaging	0.98
R5770:Ankfy1	UTSW	11	72760256	missense	probably damaging	1.00
R5896:Ankfy1	UTSW	11	72759985	missense	probably damaging	0.98
R5930:Ankfy1	UTSW	11	72712245	missense	probably benign	0.00
R5960:Ankfy1	UTSW	11	72757352	missense	possibly damaging	0.91
R6169:Ankfy1	UTSW	11	72754459	missense	probably benign	0.33
R6176:Ankfy1	UTSW	11	72754459	missense	probably benign	0.33
R6177:Ankfy1	UTSW	11	72754459	missense	probably benign	0.33
R6178:Ankfy1	UTSW	11	72754459	missense	probably benign	0.33
R6477:Ankfy1	UTSW	11	72730482	missense	possibly damaging	0.76
R6513:Ankfy1	UTSW	11	72730482	missense	possibly damaging	0.76
R6521:Ankfy1	UTSW	11	72730482	missense	possibly damaging	0.76
R6523:Ankfy1	UTSW	11	72730482	missense	possibly damaging	0.76
R6524:Ankfy1	UTSW	11	72730482	missense	possibly damaging	0.76
R7006:Ankfy1	UTSW	11	72740464	missense	probably benign	0.01
R7329:Ankfy1	UTSW	11	72712208	missense	probably damaging	0.96
R7393:Ankfy1	UTSW	11	72738308	missense	possibly damaging	0.70
R7410:Ankfy1	UTSW	11	72761504	missense	probably damaging	1.00
R7488:Ankfy1	UTSW	11	72759943	missense	probably benign	0.05
R7731:Ankfy1	UTSW	11	72712281	missense	probably benign	0.00
R7810:Ankfy1	UTSW	11	72754455	nonsense	probably null
R8236:Ankfy1	UTSW	11	72754355	missense	possibly damaging	0.90
R8709:Ankfy1	UTSW	11	72755706	missense	possibly damaging	0.91
R8717:Ankfy1	UTSW	11	72730474	missense	probably benign	0.01
R8839:Ankfy1	UTSW	11	72730566	missense	probably benign	0.39
R8862:Ankfy1	UTSW	11	72753643	missense	probably benign	0.18
R8954:Ankfy1	UTSW	11	72750491	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AATCTCTAAAGCCTGTTGGCTGCTC -3'
(R):5'- GGACTTGACACATCTGTTCCCCTG -3'

Sequencing Primer
(F):5'- ATCTCGTCTGGTCAAAGCAG -3'
(R):5'- AGCTTGAAGAACAACTTCTGC -3'

Posted On

2014-04-24