Mutagenetix > Incidental Mutation

Incidental Mutation 'R9760:Hycc1'

732937

Institutional Source

Beutler Lab

Gene Symbol

Hycc1

Ensembl Gene

ENSMUSG00000028995

Gene Name

hyccin PI4KA lipid kinase complex subunit 1

Synonyms

Fam126a, hyccin

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R9760 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24120274-24235688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24184572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 302 (Q302R)

Ref Sequence

ENSEMBL: ENSMUSP00000030849 (fasta)

Gene Model

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

AlphaFold

Q6P9N1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030849
AA Change: Q302R

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030849
Gene: ENSMUSG00000028995
AA Change: Q302R

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

possibly damaging
Transcript: ENSMUST00000101513
AA Change: Q302R

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099050
Gene: ENSMUSG00000028995
AA Change: Q302R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115109
AA Change: Q302R

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110761
Gene: ENSMUSG00000028995
AA Change: Q302R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197617
AA Change: Q220R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143784
Gene: ENSMUSG00000028995
AA Change: Q220R

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.1%
20x: 97.7%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	C	16: 8,399,794 (GRCm39)		probably null	Het
Adamts4	G	A	1: 171,086,334 (GRCm39)	D709N	probably benign	Het
Arhgef12	G	T	9: 42,903,318 (GRCm39)	D745E	probably damaging	Het
Cep250	A	G	2: 155,818,473 (GRCm39)	K883E	probably benign	Het
Cfdp1	T	C	8: 112,495,415 (GRCm39)	I268V	probably benign	Het
Cgnl1	G	T	9: 71,552,853 (GRCm39)	S1037*	probably null	Het
Clca3b	T	C	3: 144,552,610 (GRCm39)	N142S	probably benign	Het
Col6a6	A	T	9: 105,659,253 (GRCm39)	I564N	probably damaging	Het
Coq4	G	T	2: 29,678,482 (GRCm39)	R36L	probably benign	Het
Dact3	G	A	7: 16,620,131 (GRCm39)	S542N	unknown	Het
Dcaf1	A	G	9: 106,751,466 (GRCm39)	D1480G	unknown	Het
Dcdc2a	C	T	13: 25,389,443 (GRCm39)	T457I	probably damaging	Het
Ddi2	A	G	4: 141,411,196 (GRCm39)	V572A	probably damaging	Het
Ddx54	C	T	5: 120,761,672 (GRCm39)	R483C	probably benign	Het
Dennd5b	G	A	6: 148,969,997 (GRCm39)	S152F	probably benign	Het
Efcab14	C	T	4: 115,616,072 (GRCm39)	H252Y	probably benign	Het
Efhb	A	T	17: 53,770,298 (GRCm39)	F4I	probably damaging	Het
Esrrg	A	G	1: 187,775,569 (GRCm39)	D32G	probably benign	Het
Far2	C	A	6: 148,060,448 (GRCm39)	A267E	probably damaging	Het
Fhip2b	A	C	14: 70,827,621 (GRCm39)	V158G	possibly damaging	Het
Flnb	T	C	14: 7,929,846 (GRCm38)	I1992T	probably damaging	Het
Fmnl2	A	G	2: 52,944,527 (GRCm39)	S169G		Het
Galnt10	G	A	11: 57,656,514 (GRCm39)	V233I	probably benign	Het
Gbf1	C	A	19: 46,244,137 (GRCm39)	N210K	probably benign	Het
Gbp3	T	G	3: 142,276,283 (GRCm39)	S460A	probably benign	Het
Gm12185	T	A	11: 48,806,168 (GRCm39)	H341L	probably benign	Het
Gm5592	A	T	7: 40,939,234 (GRCm39)	I839F	possibly damaging	Het
Gnptab	A	G	10: 88,267,310 (GRCm39)	D467G	probably damaging	Het
Grin3a	A	T	4: 49,714,213 (GRCm39)	M844K	probably damaging	Het
Gtf2a1l	A	G	17: 89,019,020 (GRCm39)	D368G	probably benign	Het
Herc2	G	C	7: 55,813,659 (GRCm39)		probably null	Het
Ins2	T	A	7: 142,233,185 (GRCm39)	H29L	probably damaging	Het
Ipo13	T	A	4: 117,762,778 (GRCm39)	Y275F	probably benign	Het
Kcnj15	T	A	16: 95,096,483 (GRCm39)	M35K	probably benign	Het
Kif21b	G	A	1: 136,076,421 (GRCm39)	V321M	probably damaging	Het
Lcmt1	T	A	7: 123,029,375 (GRCm39)	Y332*	probably null	Het
Malt1	A	G	18: 65,581,283 (GRCm39)	Q237R	probably benign	Het
Micall1	G	A	15: 79,005,032 (GRCm39)	C168Y	unknown	Het
Muc5ac	A	G	7: 141,360,985 (GRCm39)	K1432R	probably benign	Het
Nacad	A	G	11: 6,551,662 (GRCm39)	S510P	probably benign	Het
Nub1	T	C	5: 24,897,965 (GRCm39)	L117P	possibly damaging	Het
Or10al3	T	C	17: 38,012,434 (GRCm39)	L291P	probably damaging	Het
Or5af1	A	G	11: 58,722,852 (GRCm39)	R291G	probably damaging	Het
Or8g24	A	T	9: 38,989,271 (GRCm39)	F257I	possibly damaging	Het
Pkdrej	T	C	15: 85,705,268 (GRCm39)	K223E	probably benign	Het
Prkdc	T	A	16: 15,657,044 (GRCm39)	Y4046*	probably null	Het
Prpf8	A	G	11: 75,394,257 (GRCm39)	N1767D	probably benign	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
R3hdm2	G	T	10: 127,280,182 (GRCm39)	M18I	unknown	Het
Rab35	C	A	5: 115,778,224 (GRCm39)	D63E	probably damaging	Het
Ribc2	T	A	15: 85,027,568 (GRCm39)	Y350N	probably benign	Het
Sec63	A	G	10: 42,704,944 (GRCm39)	I733V	probably benign	Het
Slc23a3	ATT	ATTT	1: 75,109,925 (GRCm39)		probably null	Het
Slc38a4	T	C	15: 96,896,332 (GRCm39)	K512E	probably damaging	Het
Stk35	G	A	2: 129,642,605 (GRCm39)	V49I	probably benign	Het
Tango6	A	G	8: 107,576,911 (GRCm39)	E1055G	probably damaging	Het
Tas2r140	A	G	6: 40,469,036 (GRCm39)	I289V	probably benign	Het
Thoc2l	T	C	5: 104,667,101 (GRCm39)	V541A	probably benign	Het
Tll2	C	T	19: 41,119,084 (GRCm39)	V215M	probably damaging	Het
Tmem30a	A	T	9: 79,687,874 (GRCm39)	N98K	probably benign	Het
Trav9n-4	C	A	14: 53,532,290 (GRCm39)	A48E	probably benign	Het
Vinac1	A	T	2: 128,880,499 (GRCm39)	S476T		Het
Vmn1r192	A	G	13: 22,372,010 (GRCm39)	F70S	probably damaging	Het
Wdr89	A	G	12: 75,680,026 (GRCm39)	V76A	probably damaging	Het
Zfp229	A	T	17: 21,965,275 (GRCm39)	T502S	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
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

Predicted Primers

PCR Primer
(F):5'- TCCGACGGTGCTTTCCTAAG -3'
(R):5'- ATAAGCATCTGTCTGGCTCTC -3'

Sequencing Primer
(F):5'- TCCTAAGGTTACAGGGTCTACCAC -3'
(R):5'- CCTATTTAGGAGGGTTAGGTATCATC -3'

Posted On

2022-11-14