Incidental Mutation 'R0645:Hycc1'
ID 57057
Institutional Source Beutler Lab
Gene Symbol Hycc1
Ensembl Gene ENSMUSG00000028995
Gene Name hyccin PI4KA lipid kinase complex subunit 1
Synonyms Fam126a, hyccin
MMRRC Submission 038830-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.743) question?
Stock # R0645 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 24120274-24235688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24184506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 242 (G242D)
Ref Sequence ENSEMBL: ENSMUSP00000143784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030849] [ENSMUST00000101513] [ENSMUST00000115109] [ENSMUST00000197617]
AlphaFold Q6P9N1
Predicted Effect possibly damaging
Transcript: ENSMUST00000030849
AA Change: G324D

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030849
Gene: ENSMUSG00000028995
AA Change: G324D

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: G324D

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099050
Gene: ENSMUSG00000028995
AA Change: G324D

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 8e-141 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115109
AA Change: G324D

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110761
Gene: ENSMUSG00000028995
AA Change: G324D

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 2.2e-141 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197617
AA Change: G242D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143784
Gene: ENSMUSG00000028995
AA Change: G242D

DomainStartEndE-ValueType
Pfam:Hyccin 1 248 1.7e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198867
Meta Mutation Damage Score 0.2885 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 99% (94/95)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 G T 8: 25,162,136 (GRCm39) Y46* probably null Het
Adam26b A C 8: 43,973,524 (GRCm39) C493G probably damaging Het
Ak5 A T 3: 152,359,252 (GRCm39) L182Q probably damaging Het
Akt1s1 T C 7: 44,498,645 (GRCm39) probably benign Het
Amhr2 G T 15: 102,354,863 (GRCm39) G133C probably damaging Het
Btbd9 A T 17: 30,743,941 (GRCm39) L187Q probably damaging Het
Ccdc117 A T 11: 5,484,385 (GRCm39) probably benign Het
Ccdc138 A T 10: 58,411,542 (GRCm39) I637F probably damaging Het
Ccdc162 A G 10: 41,462,407 (GRCm39) probably benign Het
Cdc25b C A 2: 131,033,533 (GRCm39) H157Q probably benign Het
Cdon A G 9: 35,388,379 (GRCm39) probably null Het
Cdt1 G A 8: 123,298,884 (GRCm39) probably benign Het
Cep350 C T 1: 155,816,458 (GRCm39) probably null Het
Cfb T C 17: 35,078,992 (GRCm39) K831R probably benign Het
Cldn4 C A 5: 134,975,645 (GRCm39) probably benign Het
Cntnap5b T C 1: 99,999,767 (GRCm39) probably benign Het
Cyp27b1 T G 10: 126,884,967 (GRCm39) S77A probably benign Het
Dlc1 T C 8: 37,041,203 (GRCm39) D1342G possibly damaging Het
Dlgap4 A G 2: 156,603,799 (GRCm39) H887R probably damaging Het
Duox2 A G 2: 122,123,139 (GRCm39) I503T probably damaging Het
Eml4 T C 17: 83,770,922 (GRCm39) probably benign Het
Ermap A G 4: 119,042,888 (GRCm39) S212P probably benign Het
Esrrg T A 1: 187,775,538 (GRCm39) C22S probably benign Het
Evx2 T A 2: 74,488,238 (GRCm39) Y194F possibly damaging Het
Fbn2 T G 18: 58,191,461 (GRCm39) D1554A probably damaging Het
Flrt1 G A 19: 7,074,508 (GRCm39) probably benign Het
Fndc5 A G 4: 129,033,630 (GRCm39) probably benign Het
Frem1 A T 4: 82,907,403 (GRCm39) I837N probably damaging Het
Fzd10 G T 5: 128,679,662 (GRCm39) A461S possibly damaging Het
Ganab T A 19: 8,888,477 (GRCm39) Y511N probably damaging Het
Gbp7 A G 3: 142,243,926 (GRCm39) probably null Het
Gm5919 T A 9: 83,765,436 (GRCm39) C91S unknown Het
Gpr31b A T 17: 13,271,093 (GRCm39) C25* probably null Het
Grb10 A G 11: 11,886,755 (GRCm39) S505P probably damaging Het
Grm4 A T 17: 27,654,183 (GRCm39) V542E probably damaging Het
Gsta5 T C 9: 78,206,303 (GRCm39) I75T possibly damaging Het
Hivep3 G A 4: 119,954,531 (GRCm39) R949H possibly damaging Het
Invs A T 4: 48,407,653 (GRCm39) M543L probably benign Het
Kcnk2 T C 1: 188,988,927 (GRCm39) probably null Het
Kdm6b A T 11: 69,295,844 (GRCm39) S808T unknown Het
Klhl30 C T 1: 91,283,228 (GRCm39) R277W probably damaging Het
Lama1 A G 17: 68,080,707 (GRCm39) Q1245R probably benign Het
Lingo3 G T 10: 80,671,169 (GRCm39) H254N probably benign Het
Lzts1 A T 8: 69,588,392 (GRCm39) H521Q possibly damaging Het
Map3k19 A C 1: 127,749,919 (GRCm39) I1144S possibly damaging Het
Mast2 T C 4: 116,170,043 (GRCm39) probably benign Het
Mast2 A G 4: 116,165,184 (GRCm39) S1411P probably damaging Het
Mesp1 G T 7: 79,442,328 (GRCm39) S225R possibly damaging Het
Micu1 A G 10: 59,675,503 (GRCm39) T366A possibly damaging Het
Mideas G T 12: 84,205,077 (GRCm39) N834K possibly damaging Het
Mknk2 T C 10: 80,507,742 (GRCm39) probably null Het
Msh5 A G 17: 35,258,199 (GRCm39) L309P probably damaging Het
Myo7b T C 18: 32,127,962 (GRCm39) I577V probably benign Het
Myom2 T A 8: 15,167,698 (GRCm39) D1094E probably damaging Het
Nedd1 T C 10: 92,527,693 (GRCm39) probably null Het
Neu4 T C 1: 93,950,191 (GRCm39) L50S probably damaging Het
Noa1 T C 5: 77,457,722 (GRCm39) Y61C probably benign Het
Nr1h4 A T 10: 89,342,390 (GRCm39) M30K probably benign Het
Nsd3 A G 8: 26,199,096 (GRCm39) I1219V probably benign Het
Nup188 T A 2: 30,233,478 (GRCm39) probably null Het
Or10ag2 T A 2: 87,248,612 (GRCm39) Y71* probably null Het
Or5al5 A G 2: 85,961,378 (GRCm39) S210P probably damaging Het
Or6c208 T A 10: 129,224,162 (GRCm39) I220N possibly damaging Het
Or6k2 A T 1: 173,986,920 (GRCm39) T194S probably benign Het
Pbk G A 14: 66,051,245 (GRCm39) probably benign Het
Pcnx2 G A 8: 126,487,459 (GRCm39) T1848M possibly damaging Het
Pdzd7 C T 19: 45,033,914 (GRCm39) G57R possibly damaging Het
Pik3r4 C A 9: 105,546,386 (GRCm39) probably benign Het
Plce1 A G 19: 38,766,433 (GRCm39) S2153G probably damaging Het
Potefam1 C T 2: 111,044,928 (GRCm39) probably null Het
Pphln1 G A 15: 93,318,192 (GRCm39) V34M possibly damaging Het
Prrc2a T C 17: 35,375,308 (GRCm39) D1114G probably damaging Het
Prss16 T C 13: 22,193,546 (GRCm39) probably benign Het
Rtp3 T C 9: 110,816,168 (GRCm39) K128E probably damaging Het
Scn3a T A 2: 65,355,194 (GRCm39) I241F possibly damaging Het
Setd1a G A 7: 127,386,382 (GRCm39) V336I probably damaging Het
Sfpq A G 4: 126,916,762 (GRCm39) I320V possibly damaging Het
Skint5 A T 4: 113,620,679 (GRCm39) D678E unknown Het
Slc12a9 G A 5: 137,313,638 (GRCm39) P774S probably benign Het
Slc25a54 C G 3: 109,019,481 (GRCm39) L362V possibly damaging Het
Smarcd1 A G 15: 99,605,267 (GRCm39) probably null Het
Spata31e5 T A 1: 28,816,011 (GRCm39) N674Y probably damaging Het
Suco A T 1: 161,661,683 (GRCm39) M916K probably damaging Het
Tiam2 T C 17: 3,564,973 (GRCm39) S1404P possibly damaging Het
Topors T C 4: 40,260,333 (GRCm39) T984A unknown Het
Trabd2b A T 4: 114,443,767 (GRCm39) K308M probably damaging Het
Trmo A T 4: 46,377,083 (GRCm39) probably benign Het
Trpc3 A T 3: 36,725,654 (GRCm39) D107E probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uggt2 A C 14: 119,295,010 (GRCm39) Y539D probably benign Het
Wwc2 T G 8: 48,353,674 (GRCm39) probably benign Het
Zdbf2 T A 1: 63,344,109 (GRCm39) D829E possibly 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
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
R9760:Hycc1 UTSW 5 24,184,572 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- TCGACTGTGTCCCTGGATGAGAAC -3'
(R):5'- TGTCTTGAAGTATAAGCATCTGTCTGGC -3'

Sequencing Primer
(F):5'- TTGTTTACTAGGCTCCGACG -3'
(R):5'- ACCCCCTATTTAGGAGGGTTAG -3'
Posted On 2013-07-11