Mutagenetix > Incidental Mutation

Incidental Mutation 'R7068:Hycc1'

548675

Institutional Source

Beutler Lab

Gene Symbol

Hycc1

Ensembl Gene

ENSMUSG00000028995

Gene Name

hyccin PI4KA lipid kinase complex subunit 1

Synonyms

Fam126a, hyccin

MMRRC Submission

045164-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R7068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24120274-24235688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24169793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 519 (S519P)

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: S519P

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030849
Gene: ENSMUSG00000028995
AA Change: S519P

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

probably benign
Transcript: ENSMUST00000197617

SMART Domains

Protein: ENSMUSP00000143784
Gene: ENSMUSG00000028995

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,221,803 (GRCm39)	H24R	probably benign	Het
Ago2	A	T	15: 73,018,299 (GRCm39)	F46L	probably damaging	Het
Amd1	A	G	10: 40,166,508 (GRCm39)	F123L	probably benign	Het
Arhgef10	T	C	8: 15,008,639 (GRCm39)	F546L	probably damaging	Het
Asic2	G	A	11: 81,043,081 (GRCm39)	H71Y	probably benign	Het
Asphd1	A	G	7: 126,547,850 (GRCm39)	V151A	probably benign	Het
Best3	T	C	10: 116,824,543 (GRCm39)	V3A	probably damaging	Het
C4b	A	G	17: 34,952,451 (GRCm39)	L1196P	probably damaging	Het
Cd22	A	G	7: 30,577,504 (GRCm39)	V3A	probably benign	Het
Cdkl3	T	C	11: 51,902,154 (GRCm39)		probably null	Het
Clcnka	A	T	4: 141,114,421 (GRCm39)	V631E	probably damaging	Het
Cmya5	A	G	13: 93,229,205 (GRCm39)	V1961A	possibly damaging	Het
Dnah14	A	G	1: 181,597,355 (GRCm39)	E3559G	probably benign	Het
Emsy	A	T	7: 98,259,968 (GRCm39)	D39E	probably benign	Het
Fbxl16	G	T	17: 26,038,485 (GRCm39)	V477F	possibly damaging	Het
Flt1	A	T	5: 147,610,444 (GRCm39)	I393N	probably damaging	Het
Gabra4	A	T	5: 71,729,402 (GRCm39)	N433K	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Ghsr	T	A	3: 27,425,986 (GRCm39)	V14D	probably benign	Het
Glb1l	A	G	1: 75,179,381 (GRCm39)	Y183H	probably damaging	Het
Ighv3-4	T	C	12: 114,217,274 (GRCm39)	T106A	probably damaging	Het
Ik	T	G	18: 36,888,518 (GRCm39)	F439V	possibly damaging	Het
Itih5	T	C	2: 10,254,115 (GRCm39)	S789P	probably damaging	Het
Kcnj8	T	C	6: 142,511,965 (GRCm39)	D214G	probably damaging	Het
Kdm5a	C	A	6: 120,407,176 (GRCm39)	H1464N	probably benign	Het
Klb	A	T	5: 65,536,683 (GRCm39)	Y671F	probably damaging	Het
Kremen2	C	A	17: 23,960,859 (GRCm39)	R421L	possibly damaging	Het
Mroh9	T	A	1: 162,866,750 (GRCm39)	D662V	probably damaging	Het
Mtmr12	T	G	15: 12,257,756 (GRCm39)	M278R	probably null	Het
Ndufa8	T	C	2: 35,934,447 (GRCm39)	M44V	possibly damaging	Het
Nedd4l	A	T	18: 65,338,722 (GRCm39)	R695S	probably damaging	Het
Nuf2	G	A	1: 169,349,988 (GRCm39)	P97S	probably damaging	Het
Or14c46	A	C	7: 85,918,745 (GRCm39)	L84R	probably damaging	Het
Or2ah1	T	C	2: 85,653,396 (GRCm39)	V27A	probably benign	Het
Or5ac24	T	C	16: 59,165,567 (GRCm39)	T166A	possibly damaging	Het
P4ha2	A	G	11: 54,001,820 (GRCm39)	T33A	probably benign	Het
Parp1	A	G	1: 180,416,233 (GRCm39)	H544R	probably damaging	Het
Plec	A	G	15: 76,061,969 (GRCm39)	L2678P	probably damaging	Het
Rad1	T	A	15: 10,490,379 (GRCm39)	Y85*	probably null	Het
Sema6d	A	G	2: 124,499,741 (GRCm39)	I309V	probably benign	Het
Skint2	T	C	4: 112,481,548 (GRCm39)	V137A	probably damaging	Het
Slc23a3	T	C	1: 75,109,877 (GRCm39)	N130S	probably benign	Het
Slc35f1	T	C	10: 52,938,596 (GRCm39)	F176S	probably damaging	Het
Slc44a2	T	A	9: 21,232,144 (GRCm39)	Y10N	probably benign	Het
Smarcc1	A	G	9: 110,014,952 (GRCm39)	T506A	probably damaging	Het
Smchd1	A	T	17: 71,694,087 (GRCm39)	S1219R	probably benign	Het
Smco1	A	G	16: 32,092,929 (GRCm39)	N200S	probably benign	Het
Srcap	A	G	7: 127,141,115 (GRCm39)	T1571A	probably benign	Het
Strip2	C	T	6: 29,932,207 (GRCm39)	T459I	probably benign	Het
Tarbp1	C	T	8: 127,153,773 (GRCm39)	A1560T	probably damaging	Het
Tcl1b1	T	A	12: 105,125,952 (GRCm39)		probably benign	Het
Tdrd5	T	C	1: 156,111,841 (GRCm39)	E436G	probably damaging	Het
Trim31	T	A	17: 37,209,408 (GRCm39)	C55S	probably damaging	Het
Tsr1	G	T	11: 74,794,745 (GRCm39)	E467*	probably null	Het
Tulp4	T	A	17: 6,235,564 (GRCm39)	D178E	probably damaging	Het
Vmn1r30	A	G	6: 58,411,995 (GRCm39)	V279A	possibly damaging	Het
Vmn2r98	A	G	17: 19,285,575 (GRCm39)	R132G	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
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
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'- ACATCTCAGCTTACTGCAAACTAG -3'
(R):5'- ACTGCGGCCACTGTATTTAG -3'

Sequencing Primer
(F):5'- ACTGCAAACTAGACATTATTCCCTTC -3'
(R):5'- CCTTTGAACAAGTCAGTGGTGCC -3'

Posted On

2019-05-13