Incidental Mutation 'R6959:Hycc1'
ID 541643
Institutional Source Beutler Lab
Gene Symbol Hycc1
Ensembl Gene ENSMUSG00000028995
Gene Name hyccin PI4KA lipid kinase complex subunit 1
Synonyms Fam126a, hyccin
MMRRC Submission 045069-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.743) question?
Stock # R6959 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 24120274-24235688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24196754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 45 (I45V)
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
AA Change: I45V

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030849
Gene: ENSMUSG00000028995
AA Change: I45V

DomainStartEndE-ValueType
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: I45V

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099050
Gene: ENSMUSG00000028995
AA Change: I45V

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 8e-141 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115109
AA Change: I45V

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110761
Gene: ENSMUSG00000028995
AA Change: I45V

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 2.2e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197617
SMART Domains Protein: ENSMUSP00000143784
Gene: ENSMUSG00000028995

DomainStartEndE-ValueType
Pfam:Hyccin 1 248 1.7e-100 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency 94% (61/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik G A 11: 70,507,485 (GRCm39) G177R probably damaging Het
Arhgef12 T C 9: 42,927,249 (GRCm39) T292A probably benign Het
Atp11a T A 8: 12,870,467 (GRCm39) D173E probably damaging Het
Bltp1 T G 3: 37,021,338 (GRCm39) V2154G probably damaging Het
Btnl2 G A 17: 34,582,333 (GRCm39) V300M possibly damaging Het
Calcrl A T 2: 84,200,428 (GRCm39) N117K possibly damaging Het
Castor2 T C 5: 134,164,052 (GRCm39) S83P probably damaging Het
Ccdc196 A G 12: 78,249,070 (GRCm39) K139E probably damaging Het
Ccl22 A T 8: 95,473,528 (GRCm39) probably null Het
Cd200r1 T A 16: 44,610,539 (GRCm39) S216T probably damaging Het
Cdk5rap2 G A 4: 70,278,906 (GRCm39) probably null Het
Cfap157 A G 2: 32,674,260 (GRCm39) I47T probably damaging Het
Chodl G A 16: 78,743,572 (GRCm39) V220I probably damaging Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Cstf3 A G 2: 104,479,807 (GRCm39) T225A probably benign Het
Duoxa1 T C 2: 122,134,318 (GRCm39) S267G probably damaging Het
Epb41l1 G A 2: 156,341,507 (GRCm39) S164N probably benign Het
Fat3 T C 9: 15,908,181 (GRCm39) D2607G possibly damaging Het
Galnt5 A G 2: 57,889,231 (GRCm39) D277G probably benign Het
Galnt6 A G 15: 100,612,006 (GRCm39) I212T probably damaging Het
Gm45861 T C 8: 28,038,213 (GRCm39) probably null Het
Gm5478 T C 15: 101,553,883 (GRCm39) D243G probably damaging Het
Gse1 A G 8: 121,297,710 (GRCm39) probably benign Het
Hspg2 A T 4: 137,246,600 (GRCm39) Q1096L probably benign Het
Idh3b A G 2: 130,123,447 (GRCm39) V181A probably damaging Het
Igf2bp3 T C 6: 49,094,082 (GRCm39) probably null Het
Ikzf2 A G 1: 69,577,929 (GRCm39) *382Q probably null Het
Impg2 A C 16: 56,088,693 (GRCm39) H1073P probably benign Het
Incenp T C 19: 9,854,134 (GRCm39) E639G unknown Het
Kcne4 A G 1: 78,795,603 (GRCm39) M84V probably benign Het
Ktn1 T A 14: 47,957,713 (GRCm39) F1004I probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Malrd1 A G 2: 16,222,820 (GRCm39) I2040V probably damaging Het
Mau2 T C 8: 70,485,878 (GRCm39) D110G probably damaging Het
Mei1 T C 15: 82,009,076 (GRCm39) V1237A probably benign Het
Mfsd11 T G 11: 116,752,495 (GRCm39) probably null Het
Ncapd2 A G 6: 125,145,883 (GRCm39) F1293L probably benign Het
Nf1 A G 11: 79,440,294 (GRCm39) T280A probably damaging Het
Obscn G T 11: 58,928,411 (GRCm39) A6085E probably damaging Het
Or51b6b T A 7: 103,310,050 (GRCm39) I136F probably damaging Het
Pdzd2 C T 15: 12,375,993 (GRCm39) A1381T probably benign Het
Pramel41 T A 5: 94,594,891 (GRCm39) N250K possibly damaging Het
Ralgapa2 A G 2: 146,184,621 (GRCm39) V1462A probably damaging Het
Rbx1 T A 15: 81,355,163 (GRCm39) C56* probably null Het
Reln A G 5: 22,181,562 (GRCm39) S1774P probably damaging Het
Ros1 T A 10: 52,040,090 (GRCm39) E300D probably damaging Het
Sarnp T C 10: 128,684,137 (GRCm39) V111A possibly damaging Het
Scube1 G T 15: 83,513,636 (GRCm39) Q345K probably benign Het
Slc18b1 A G 10: 23,701,942 (GRCm39) probably null Het
Slc37a2 T A 9: 37,152,630 (GRCm39) T64S probably benign Het
Slit2 A G 5: 48,395,727 (GRCm39) D710G possibly damaging Het
Srp72 T A 5: 77,142,070 (GRCm39) Y375N possibly damaging Het
Tmco4 T A 4: 138,737,810 (GRCm39) V135D probably damaging Het
Trim62 A G 4: 128,802,955 (GRCm39) D335G probably damaging Het
Tsfm T C 10: 126,858,778 (GRCm39) M196V probably benign Het
Tspan10 T A 11: 120,335,522 (GRCm39) C211S probably damaging Het
Ttc21b A T 2: 66,061,656 (GRCm39) M498K probably benign Het
Ttc6 A T 12: 57,704,928 (GRCm39) probably null Het
Ttll1 G T 15: 83,386,397 (GRCm39) Y69* probably null Het
Usp28 T A 9: 48,912,842 (GRCm39) L31H probably damaging Het
Vmn2r86 A G 10: 130,282,400 (GRCm39) S739P probably damaging Het
Wdr64 T A 1: 175,533,555 (GRCm39) F64I probably damaging Het
Ywhaq A G 12: 21,446,281 (GRCm39) probably null Het
Zfr T C 15: 12,150,409 (GRCm39) S459P probably damaging Het
Other mutations in Hycc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CCAAGGCTATGGAGACTCAGAG -3'
(R):5'- AAACACCAGCATGGAATTCTGG -3'

Sequencing Primer
(F):5'- GCTATGGAGACTCAGAGACATAC -3'
(R):5'- CCAGCATGGAATTCTGGAAACTATG -3'
Posted On 2018-11-28