Mutagenetix > Incidental Mutation

Incidental Mutation 'R1462:Hycc1'

186296

Institutional Source

Beutler Lab

Gene Symbol

Hycc1

Ensembl Gene

ENSMUSG00000028995

Gene Name

hyccin PI4KA lipid kinase complex subunit 1

Synonyms

Fam126a, hyccin

MMRRC Submission

039516-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24120274-24235688 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 24190730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030849] [ENSMUST00000101513] [ENSMUST00000115109] [ENSMUST00000197617]

AlphaFold

Q6P9N1

Predicted Effect

probably benign
Transcript: ENSMUST00000030849

SMART Domains

Protein: ENSMUSP00000030849
Gene: ENSMUSG00000028995

Domain	Start	End	E-Value	Type
Pfam:Hyccin	22	330	2.7e-133	PFAM
low complexity region	353	373	N/A	INTRINSIC
low complexity region	415	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101513

SMART Domains

Protein: ENSMUSP00000099050
Gene: ENSMUSG00000028995

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	330	8e-141	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115109

SMART Domains

Protein: ENSMUSP00000110761
Gene: ENSMUSG00000028995

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	330	2.2e-141	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147179

Predicted Effect

probably benign
Transcript: ENSMUST00000197617

SMART Domains

Protein: ENSMUSP00000143784
Gene: ENSMUSG00000028995

Domain	Start	End	E-Value	Type
Pfam:Hyccin	1	248	1.7e-100	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198867

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,642,370 (GRCm39)	S104*	probably null	Het
A430093F15Rik	A	T	19: 10,762,845 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,433,924 (GRCm39)		probably benign	Het
Abca9	T	C	11: 110,051,342 (GRCm39)	D118G	probably benign	Het
Adamts16	A	G	13: 70,984,253 (GRCm39)	F137L	probably benign	Het
Adamts3	T	C	5: 90,009,208 (GRCm39)	I152V	probably benign	Het
Adcy4	T	A	14: 56,015,765 (GRCm39)	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,455,745 (GRCm39)	Y458N	probably damaging	Het
Atpaf1	C	T	4: 115,642,150 (GRCm39)		probably benign	Het
Bhlhe22	C	G	3: 18,109,946 (GRCm39)	S332C	probably damaging	Het
Card19	T	A	13: 49,358,760 (GRCm39)	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,485,662 (GRCm39)	L11P	probably damaging	Het
Cdadc1	A	G	14: 59,813,307 (GRCm39)	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,719,288 (GRCm39)	Q542K	possibly damaging	Het
Ceacam23	T	G	7: 17,649,516 (GRCm39)		noncoding transcript	Het
Cep170	T	C	1: 176,584,211 (GRCm39)	K723E	possibly damaging	Het
Cep70	A	G	9: 99,145,773 (GRCm39)	I147V	probably benign	Het
Cfap58	A	T	19: 47,950,869 (GRCm39)	H410L	probably damaging	Het
Chat	T	C	14: 32,142,735 (GRCm39)	K418R	probably damaging	Het
Cic	T	G	7: 24,971,032 (GRCm39)	D254E	probably damaging	Het
Ckap4	T	C	10: 84,363,431 (GRCm39)	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,763,739 (GRCm39)	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,380,632 (GRCm39)	N418D	probably damaging	Het
Daam1	A	T	12: 71,990,916 (GRCm39)	I177L	unknown	Het
Dnah1	T	C	14: 30,990,738 (GRCm39)		probably benign	Het
Ercc5	A	G	1: 44,219,784 (GRCm39)	T1019A	probably damaging	Het
F13b	T	A	1: 139,435,374 (GRCm39)	V173E	probably damaging	Het
Fam135b	A	G	15: 71,493,845 (GRCm39)		probably benign	Het
Fam20a	A	C	11: 109,568,143 (GRCm39)	F316V	probably damaging	Het
Flrt2	T	C	12: 95,746,112 (GRCm39)	V150A	probably damaging	Het
Fnta	A	C	8: 26,489,599 (GRCm39)		probably null	Het
Ghsr	A	G	3: 27,426,025 (GRCm39)	D27G	probably benign	Het
Glis3	G	T	19: 28,239,918 (GRCm39)		probably benign	Het
Gtpbp1	A	G	15: 79,592,086 (GRCm39)	N96D	probably damaging	Het
H1f7	A	T	15: 98,154,454 (GRCm39)	W232R	unknown	Het
Ibtk	A	T	9: 85,606,198 (GRCm39)	I443N	probably damaging	Het
Ifi207	T	C	1: 173,552,513 (GRCm39)	H968R	probably damaging	Het
Ifit2	A	G	19: 34,550,586 (GRCm39)	D42G	probably null	Het
Il17rc	A	T	6: 113,455,950 (GRCm39)	D265V	probably damaging	Het
Ints10	G	A	8: 69,260,296 (GRCm39)		probably benign	Het
Itfg2	T	C	6: 128,401,691 (GRCm39)	D29G	probably damaging	Het
Itprid1	A	G	6: 55,952,649 (GRCm39)	H864R	probably damaging	Het
Kcng3	A	T	17: 83,938,492 (GRCm39)	C186S	probably damaging	Het
Lrrc1	A	G	9: 77,349,547 (GRCm39)	F295L	probably benign	Het
Mrps28	T	A	3: 8,965,184 (GRCm39)	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,499,693 (GRCm39)	K37M	possibly damaging	Het
Mug1	C	T	6: 121,859,588 (GRCm39)	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084 (GRCm39)	H60R	possibly damaging	Het
Musk	A	G	4: 58,286,204 (GRCm39)		probably benign	Het
Mybl2	T	C	2: 162,914,628 (GRCm39)	S249P	probably benign	Het
Naip6	A	G	13: 100,436,748 (GRCm39)	Y592H	possibly damaging	Het
Nrp1	A	G	8: 129,229,279 (GRCm39)	N919S	probably benign	Het
Nudt9	C	T	5: 104,212,904 (GRCm39)	Q326*	probably null	Het
Or5w13	A	T	2: 87,523,720 (GRCm39)	C169S	probably damaging	Het
Or6c76b	A	G	10: 129,693,100 (GRCm39)	T238A	probably damaging	Het
Or7g17	T	A	9: 18,768,407 (GRCm39)	M162K	probably benign	Het
Or9k7	T	A	10: 130,046,592 (GRCm39)	I136F	probably benign	Het
Pcsk4	T	C	10: 80,161,815 (GRCm39)	E142G	probably damaging	Het
Pde3a	C	A	6: 141,405,560 (GRCm39)	P471T	probably benign	Het
Pign	A	T	1: 105,512,727 (GRCm39)	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,181,672 (GRCm39)	M420K	probably damaging	Het
Prr14	T	A	7: 127,073,160 (GRCm39)		probably null	Het
Rchy1	T	A	5: 92,105,741 (GRCm39)	Q69L	probably damaging	Het
Sccpdh	A	C	1: 179,509,125 (GRCm39)		probably benign	Het
Sec23ip	T	G	7: 128,367,862 (GRCm39)	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,473,925 (GRCm39)	S47P	probably damaging	Het
Speer4a3	T	A	5: 26,156,623 (GRCm39)	I119F	possibly damaging	Het
Stil	G	A	4: 114,881,161 (GRCm39)	M568I	probably benign	Het
Syt3	T	A	7: 44,045,434 (GRCm39)	V558E	probably damaging	Het
Sytl3	A	G	17: 6,973,430 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,231,164 (GRCm39)	V2533A	unknown	Het
Tenm4	A	G	7: 96,353,360 (GRCm39)	Y384C	probably damaging	Het
Tfam	T	C	10: 71,071,380 (GRCm39)	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,714,304 (GRCm39)	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,409,566 (GRCm39)	Y15*	probably null	Het
Uhrf1	C	T	17: 56,625,035 (GRCm39)	A526V	probably damaging	Het
Vmn2r67	T	C	7: 84,805,046 (GRCm39)	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,817,660 (GRCm39)	I412M	possibly damaging	Het
Vmn2r-ps69	T	A	7: 84,959,560 (GRCm39)		noncoding transcript	Het
Wdr17	A	T	8: 55,123,363 (GRCm39)	I479K	probably damaging	Het
Wt1	T	C	2: 104,997,176 (GRCm39)	V371A	probably damaging	Het
Zfp536	G	T	7: 37,178,735 (GRCm39)	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,803,108 (GRCm39)	V560A	probably benign	Het

Other mutations in Hycc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Hycc1	APN	5	24,190,843 (GRCm39)	splice site	probably benign
IGL03365:Hycc1	APN	5	24,188,158 (GRCm39)	missense	probably benign	0.30
Dropsy	UTSW	5	24,204,956 (GRCm39)	missense	probably damaging	0.99
R0070:Hycc1	UTSW	5	24,169,997 (GRCm39)	missense	probably damaging	1.00
R0070:Hycc1	UTSW	5	24,169,997 (GRCm39)	missense	probably damaging	1.00
R0616:Hycc1	UTSW	5	24,191,770 (GRCm39)	missense	probably damaging	0.99
R0645:Hycc1	UTSW	5	24,184,506 (GRCm39)	missense	probably damaging	1.00
R1364:Hycc1	UTSW	5	24,170,351 (GRCm39)	missense	probably benign
R1544:Hycc1	UTSW	5	24,170,139 (GRCm39)	missense	probably benign	0.00
R1670:Hycc1	UTSW	5	24,204,989 (GRCm39)	start codon destroyed	possibly damaging	0.95
R1796:Hycc1	UTSW	5	24,191,149 (GRCm39)	missense	probably damaging	1.00
R4433:Hycc1	UTSW	5	24,184,579 (GRCm39)	missense	possibly damaging	0.77
R4523:Hycc1	UTSW	5	24,170,120 (GRCm39)	missense	probably benign	0.01
R5220:Hycc1	UTSW	5	24,170,220 (GRCm39)	missense	possibly damaging	0.64
R5453:Hycc1	UTSW	5	24,192,877 (GRCm39)	splice site	probably null
R5694:Hycc1	UTSW	5	24,196,794 (GRCm39)	missense	probably damaging	1.00
R5703:Hycc1	UTSW	5	24,185,577 (GRCm39)	splice site	probably null
R6144:Hycc1	UTSW	5	24,171,367 (GRCm39)	missense	possibly damaging	0.45
R6547:Hycc1	UTSW	5	24,170,098 (GRCm39)	missense	probably benign	0.04
R6579:Hycc1	UTSW	5	24,171,381 (GRCm39)	missense	possibly damaging	0.77
R6906:Hycc1	UTSW	5	24,204,956 (GRCm39)	missense	probably damaging	0.99
R6924:Hycc1	UTSW	5	24,191,133 (GRCm39)	splice site	probably null
R6959:Hycc1	UTSW	5	24,196,754 (GRCm39)	missense	possibly damaging	0.84
R7068:Hycc1	UTSW	5	24,169,793 (GRCm39)	missense	possibly damaging	0.85
R7699:Hycc1	UTSW	5	24,120,494 (GRCm39)	missense	probably damaging	0.98
R8748:Hycc1	UTSW	5	24,170,320 (GRCm39)	missense	probably benign	0.17
R8785:Hycc1	UTSW	5	24,169,904 (GRCm39)	missense	probably damaging	1.00
R8958:Hycc1	UTSW	5	24,169,934 (GRCm39)	missense	probably benign	0.01
R9053:Hycc1	UTSW	5	24,184,579 (GRCm39)	missense	possibly damaging	0.69
R9623:Hycc1	UTSW	5	24,170,255 (GRCm39)	missense	probably benign	0.02
R9751:Hycc1	UTSW	5	24,196,748 (GRCm39)	missense	probably benign	0.01
R9760:Hycc1	UTSW	5	24,184,572 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

Posted On

2014-05-09