Incidental Mutation 'R5220:Hycc1'
ID 402261
Institutional Source Beutler Lab
Gene Symbol Hycc1
Ensembl Gene ENSMUSG00000028995
Gene Name hyccin PI4KA lipid kinase complex subunit 1
Synonyms Fam126a, hyccin
MMRRC Submission 042793-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.743) question?
Stock # R5220 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 24120274-24235688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 24170220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 376 (S376R)
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: S376R

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030849
Gene: ENSMUSG00000028995
AA Change: S376R

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 probably benign
Transcript: ENSMUST00000101513
SMART Domains Protein: ENSMUSP00000099050
Gene: ENSMUSG00000028995

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 8e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115109
SMART Domains Protein: ENSMUSP00000110761
Gene: ENSMUSG00000028995

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: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,738,045 (GRCm39) E250G probably damaging Het
Adgra1 A G 7: 139,455,512 (GRCm39) N380S probably benign Het
Ap3d1 G A 10: 80,563,001 (GRCm39) P160L probably damaging Het
Atg9a C T 1: 75,162,372 (GRCm39) V505M probably damaging Het
Chsy3 A T 18: 59,543,102 (GRCm39) I747F probably damaging Het
Clec2g A G 6: 128,958,269 (GRCm39) S100G probably benign Het
Cmya5 G T 13: 93,228,804 (GRCm39) P2095T probably damaging Het
Dcaf10 T C 4: 45,373,909 (GRCm39) W445R possibly damaging Het
Espl1 T A 15: 102,207,012 (GRCm39) L159M probably benign Het
Fbxw8 T C 5: 118,233,776 (GRCm39) D285G possibly damaging Het
Fras1 C T 5: 96,916,222 (GRCm39) R3419W probably damaging Het
Galc T A 12: 98,197,672 (GRCm39) probably null Het
Ghdc T C 11: 100,660,543 (GRCm39) E110G probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
H2-T24 T C 17: 36,325,562 (GRCm39) T309A probably benign Het
Helb A C 10: 119,937,391 (GRCm39) F618V probably damaging Het
Ifi211 A G 1: 173,735,262 (GRCm39) F56L probably damaging Het
Kntc1 T C 5: 123,950,160 (GRCm39) F1988L probably damaging Het
Mapk13 G A 17: 28,997,465 (GRCm39) S361N probably benign Het
Mapk3 A G 7: 126,363,408 (GRCm39) I146V probably benign Het
Megf6 G A 4: 154,338,295 (GRCm39) probably null Het
Mug1 G T 6: 121,838,092 (GRCm39) V441F probably benign Het
Mymk A G 2: 26,952,226 (GRCm39) S173P probably benign Het
Nox4 A G 7: 87,023,616 (GRCm39) T501A possibly damaging Het
Or13c7 C A 4: 43,854,624 (GRCm39) S105Y possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or52n2 T C 7: 104,542,104 (GRCm39) T244A possibly damaging Het
Prkcb C A 7: 121,888,678 (GRCm39) H37Q probably damaging Het
Rabggtb A G 3: 153,615,024 (GRCm39) F189L probably damaging Het
Setd1b T C 5: 123,281,471 (GRCm39) I75T unknown Het
Slc10a5 T A 3: 10,400,148 (GRCm39) R171* probably null Het
Slc12a4 A G 8: 106,680,484 (GRCm39) F211L probably damaging Het
Slc1a5 T A 7: 16,527,759 (GRCm39) W352R probably damaging Het
Slc22a27 C G 19: 7,843,303 (GRCm39) A359P probably damaging Het
St8sia4 A G 1: 95,555,460 (GRCm39) M190T probably damaging Het
Tmeff2 A G 1: 51,018,476 (GRCm39) M153V probably benign Het
Trappc12 T C 12: 28,796,696 (GRCm39) T279A probably damaging Het
Ubn1 G T 16: 4,895,818 (GRCm39) A955S probably benign Het
Usp24 T A 4: 106,239,500 (GRCm39) H1147Q possibly damaging Het
Vrk1 T A 12: 106,039,865 (GRCm39) probably null Het
Zdhhc25 T A 15: 88,485,365 (GRCm39) Y233* probably null Het
Zfp109 A G 7: 23,928,179 (GRCm39) V418A probably benign 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
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 PCR Primer
(F):5'- ACTGGCTGGAGGTTAAGGTCAG -3'
(R):5'- AGTGGGGTAGTTTACAGCATGC -3'

Sequencing Primer
(F):5'- AGGTTAAGGTCAGTCTCTTCAGAG -3'
(R):5'- CAGCATGCTTGTGGTTTAATATATTC -3'
Posted On 2016-07-22