Mutagenetix > Incidental Mutation

Incidental Mutation 'R6144:Hycc1'

488729

Institutional Source

Beutler Lab

Gene Symbol

Hycc1

Ensembl Gene

ENSMUSG00000028995

Gene Name

hyccin PI4KA lipid kinase complex subunit 1

Synonyms

Fam126a, hyccin

MMRRC Submission

044291-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R6144 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

24120274-24235688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24171367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 352 (S352G)

Ref Sequence

ENSEMBL: ENSMUSP00000110761 (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

possibly damaging
Transcript: ENSMUST00000115109
AA Change: S352G

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110761
Gene: ENSMUSG00000028995
AA Change: S352G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197617
AA Change: S270G

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143784
Gene: ENSMUSG00000028995
AA Change: S270G

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

Meta Mutation Damage Score

0.0714

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (65/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	A	T	2: 150,186,564 (GRCm39)	D40E	possibly damaging	Het
4921517D22Rik	C	T	13: 59,837,347 (GRCm39)	R246H	probably damaging	Het
Agbl1	A	G	7: 76,069,832 (GRCm39)	T203A	probably benign	Het
Alms1	T	A	6: 85,600,056 (GRCm39)	D2096E	probably damaging	Het
Ankrd53	T	C	6: 83,739,639 (GRCm39)		probably benign	Het
Arap3	C	A	18: 38,118,486 (GRCm39)	G814C	probably damaging	Het
Armc9	T	G	1: 86,172,301 (GRCm39)	I5S	probably benign	Het
Catsperg1	T	C	7: 28,910,120 (GRCm39)	T74A	probably damaging	Het
Cdca7l	T	A	12: 117,837,446 (GRCm39)		probably null	Het
Cfhr2	T	A	1: 139,733,153 (GRCm39)		probably benign	Het
Chpt1	A	G	10: 88,288,955 (GRCm39)		probably benign	Het
Cntrl	A	C	2: 35,055,745 (GRCm39)	D1213A	possibly damaging	Het
Col7a1	C	T	9: 108,803,148 (GRCm39)	R2149C	unknown	Het
Cpa4	T	C	6: 30,585,082 (GRCm39)	S289P	probably damaging	Het
Cpsf3	G	A	12: 21,356,887 (GRCm39)		probably null	Het
Creb3l1	T	C	2: 91,822,350 (GRCm39)	H212R	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2c29	A	G	19: 39,310,053 (GRCm39)	D254G	possibly damaging	Het
Dennd1b	A	G	1: 139,008,993 (GRCm39)	H232R	probably damaging	Het
Dhx29	T	C	13: 113,101,105 (GRCm39)	L1216P	probably damaging	Het
Dsg1b	T	C	18: 20,529,476 (GRCm39)	I307T	possibly damaging	Het
Ep300	A	G	15: 81,485,435 (GRCm39)	S141G	unknown	Het
Evl	A	C	12: 108,619,290 (GRCm39)	K101T	probably damaging	Het
Exph5	G	A	9: 53,284,328 (GRCm39)	G470R	probably benign	Het
Flg	A	T	3: 93,190,515 (GRCm39)		probably benign	Het
Gm45704	T	A	8: 73,510,920 (GRCm39)			Het
Grm1	T	C	10: 10,955,640 (GRCm39)	M215V	probably benign	Het
Hadha	T	C	5: 30,345,994 (GRCm39)	D210G	probably benign	Het
Hmcn1	T	C	1: 150,598,175 (GRCm39)	Y1709C	probably damaging	Het
Hrc	A	T	7: 44,986,157 (GRCm39)	H436L	possibly damaging	Het
Ido1	T	A	8: 25,075,306 (GRCm39)	T259S	possibly damaging	Het
Itgb7	C	A	15: 102,131,917 (GRCm39)	R222L	probably benign	Het
Khnyn	T	C	14: 56,125,296 (GRCm39)	V485A	probably damaging	Het
Kifc5b	T	C	17: 27,140,826 (GRCm39)	V100A	probably benign	Het
Lsm10	T	C	4: 125,991,794 (GRCm39)	M50T	probably damaging	Het
Map3k6	T	G	4: 132,972,986 (GRCm39)	W382G	probably damaging	Het
Mink1	T	A	11: 70,501,478 (GRCm39)	F922I	possibly damaging	Het
Mrap2	T	C	9: 87,057,871 (GRCm39)	V53A	probably damaging	Het
Mrps7	C	A	11: 115,495,000 (GRCm39)	A5E	probably benign	Het
Muc4	A	G	16: 32,587,298 (GRCm39)	N2713S	possibly damaging	Het
Nckipsd	T	C	9: 108,689,585 (GRCm39)	S249P	probably damaging	Het
Neil3	T	C	8: 54,052,447 (GRCm39)	T384A	probably benign	Het
Noc3l	A	T	19: 38,787,399 (GRCm39)	I504K	probably damaging	Het
Nudt13	A	G	14: 20,357,839 (GRCm39)	N107S	probably benign	Het
Or11h4b	C	A	14: 50,918,392 (GRCm39)	R233L	probably benign	Het
Or2n1	T	A	17: 38,486,116 (GRCm39)	L47H	probably damaging	Het
Or5c1	T	A	2: 37,222,125 (GRCm39)	M122K	probably damaging	Het
Otub1	G	T	19: 7,176,518 (GRCm39)	Y205*	probably null	Het
Pals1	T	C	12: 78,871,563 (GRCm39)	V381A	possibly damaging	Het
Pierce2	C	A	9: 72,887,270 (GRCm39)	C79F	probably damaging	Het
Plpp7	T	A	2: 31,986,100 (GRCm39)	S93T	probably damaging	Het
Pxk	T	G	14: 8,138,011 (GRCm38)	Y188D	probably damaging	Het
Rigi	T	C	4: 40,229,551 (GRCm39)	I78V	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpap1	A	T	2: 119,603,128 (GRCm39)	C602*	probably null	Het
Sbds	T	C	5: 130,275,185 (GRCm39)	K248E	probably benign	Het
Serpina10	A	T	12: 103,595,092 (GRCm39)	N42K	probably benign	Het
Slc7a8	A	G	14: 54,966,797 (GRCm39)	L368P	probably damaging	Het
Srrm1	T	C	4: 135,065,184 (GRCm39)		probably benign	Het
Sun2	C	T	15: 79,614,533 (GRCm39)	V288I	probably benign	Het
Tas2r107	C	A	6: 131,636,966 (GRCm39)	A28S	possibly damaging	Het
Tbc1d9b	T	C	11: 50,037,155 (GRCm39)	I268T	probably benign	Het
Tjp2	A	G	19: 24,097,437 (GRCm39)	F495L	probably damaging	Het
Top2b	T	C	14: 16,423,740 (GRCm38)	L1434P	possibly damaging	Het
Top3b	A	G	16: 16,697,005 (GRCm39)		probably null	Het
Trdv2-2	A	T	14: 54,198,761 (GRCm39)	E17V	possibly damaging	Het
Ttc6	T	A	12: 57,719,886 (GRCm39)	L819Q	possibly damaging	Het
Txlnb	A	G	10: 17,718,914 (GRCm39)	T582A	probably benign	Het
Zfp788	T	C	7: 41,299,193 (GRCm39)	S558P	probably damaging	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
R1462:Hycc1	UTSW	5	24,190,730 (GRCm39)	splice site	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
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

PCR Primer
(F):5'- TGCTAAAACTGCACTCTGCC -3'
(R):5'- GCGTGTTTGCCTTAAGTTATACC -3'

Sequencing Primer
(F):5'- AACTGCACTCTGCCAGCTG -3'
(R):5'- ACCATTCAATCATCCAGTTTTGTTC -3'

Posted On

2017-10-10