Incidental Mutation 'IGL02023:Hycc2'
ID 184025
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hycc2
Ensembl Gene ENSMUSG00000038174
Gene Name hyccin PI4KA lipid kinase complex subunit 2
Synonyms Fam126b, D1Ertd53e
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # IGL02023
Quality Score
Status
Chromosome 1
Chromosomal Location 58561965-58625482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58569274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 435 (A435V)
Ref Sequence ENSEMBL: ENSMUSP00000095331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038372] [ENSMUST00000097724] [ENSMUST00000161600] [ENSMUST00000187717]
AlphaFold Q8C729
Predicted Effect probably benign
Transcript: ENSMUST00000038372
AA Change: A379V

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174
AA Change: A379V

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 1.7e-137 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097724
AA Change: A435V

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174
AA Change: A435V

DomainStartEndE-ValueType
Pfam:Hyccin 22 330 3.3e-126 PFAM
low complexity region 374 399 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161600
AA Change: A379V

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174
AA Change: A379V

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 1.7e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187717
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,953,942 (GRCm39) K833E probably benign Het
Adam29 T C 8: 56,325,519 (GRCm39) I312V probably benign Het
Adcy8 T A 15: 64,694,069 (GRCm39) I403F probably damaging Het
Ahcyl1 A T 3: 107,575,010 (GRCm39) N444K probably damaging Het
Ang4 T C 14: 52,001,511 (GRCm39) probably benign Het
Atf6b T C 17: 34,870,841 (GRCm39) V401A possibly damaging Het
Atp7a A T X: 105,138,588 (GRCm39) I604F probably damaging Het
Cd151 T C 7: 141,050,370 (GRCm39) Y202H probably damaging Het
Cd99l2 A T X: 70,493,552 (GRCm39) N64K possibly damaging Het
Cog7 C T 7: 121,543,000 (GRCm39) probably null Het
Decr2 A T 17: 26,306,354 (GRCm39) M94K probably benign Het
Dock11 A T X: 35,232,422 (GRCm39) H188L probably benign Het
Dscam T C 16: 96,602,397 (GRCm39) S682G probably benign Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Gja3 G T 14: 57,273,136 (GRCm39) P412Q probably damaging Het
Glrb T C 3: 80,758,262 (GRCm39) N333D probably benign Het
Gpr65 T A 12: 98,242,127 (GRCm39) V260D probably benign Het
Hormad1 A G 3: 95,485,604 (GRCm39) E264G possibly damaging Het
Hsph1 T C 5: 149,557,324 (GRCm39) R46G probably damaging Het
Iars1 A G 13: 49,841,725 (GRCm39) Y71C probably damaging Het
Lsg1 T C 16: 30,404,494 (GRCm39) H35R probably damaging Het
Mfge8 C T 7: 78,794,985 (GRCm39) probably benign Het
Mgat4c T A 10: 102,214,045 (GRCm39) Y9* probably null Het
Mpdz A T 4: 81,247,766 (GRCm39) I1074N probably damaging Het
Muc19 T C 15: 91,772,453 (GRCm39) noncoding transcript Het
Nbea A T 3: 55,588,437 (GRCm39) M2434K probably damaging Het
Ncoa2 A G 1: 13,245,078 (GRCm39) L540P probably damaging Het
Nhsl2 A G X: 101,121,858 (GRCm39) R554G probably damaging Het
Npdc1 T A 2: 25,298,032 (GRCm39) probably benign Het
Or2aj6 A T 16: 19,443,158 (GRCm39) S231T probably benign Het
Osbpl10 T A 9: 115,055,790 (GRCm39) V654D probably damaging Het
Plxna1 C A 6: 89,334,314 (GRCm39) G105V possibly damaging Het
Pnma8b T C 7: 16,679,616 (GRCm39) V200A probably damaging Het
Ppard A G 17: 28,517,871 (GRCm39) H313R probably benign Het
Rasgrp4 T C 7: 28,838,335 (GRCm39) L103P probably damaging Het
Rigi A G 4: 40,216,487 (GRCm39) Y504H possibly damaging Het
Ripk4 A T 16: 97,556,431 (GRCm39) L104Q probably damaging Het
Setd2 T C 9: 110,423,704 (GRCm39) V2253A probably benign Het
Setdb2 A G 14: 59,668,607 (GRCm39) S43P probably damaging Het
Stab2 C A 10: 86,707,695 (GRCm39) G1742V possibly damaging Het
Timm23 A G 14: 31,915,804 (GRCm39) probably benign Het
Ttn T C 2: 76,615,999 (GRCm39) N14902S possibly damaging Het
Ush2a A G 1: 188,465,711 (GRCm39) T2760A probably benign Het
Vmn2r25 T C 6: 123,816,388 (GRCm39) N398D probably damaging Het
Other mutations in Hycc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Hycc2 APN 1 58,579,412 (GRCm39) splice site probably benign
IGL00468:Hycc2 APN 1 58,569,391 (GRCm39) missense probably benign 0.25
IGL00701:Hycc2 APN 1 58,574,641 (GRCm39) missense possibly damaging 0.59
IGL00795:Hycc2 APN 1 58,591,338 (GRCm39) missense probably damaging 1.00
IGL02501:Hycc2 APN 1 58,579,350 (GRCm39) missense probably damaging 1.00
IGL02657:Hycc2 APN 1 58,574,561 (GRCm39) missense probably damaging 1.00
IGL02970:Hycc2 APN 1 58,578,776 (GRCm39) missense probably damaging 1.00
IGL03221:Hycc2 APN 1 58,579,345 (GRCm39) missense probably benign 0.00
IGL03240:Hycc2 APN 1 58,569,076 (GRCm39) missense probably damaging 1.00
PIT4812001:Hycc2 UTSW 1 58,587,862 (GRCm39) missense possibly damaging 0.78
R0455:Hycc2 UTSW 1 58,573,638 (GRCm39) splice site probably benign
R1479:Hycc2 UTSW 1 58,591,427 (GRCm39) nonsense probably null
R1529:Hycc2 UTSW 1 58,578,766 (GRCm39) missense probably benign 0.00
R4275:Hycc2 UTSW 1 58,569,092 (GRCm39) missense probably benign
R5164:Hycc2 UTSW 1 58,574,597 (GRCm39) missense probably benign 0.13
R6332:Hycc2 UTSW 1 58,569,034 (GRCm39) missense probably damaging 0.99
R6352:Hycc2 UTSW 1 58,596,471 (GRCm39) missense probably damaging 1.00
R6549:Hycc2 UTSW 1 58,578,759 (GRCm39) missense probably benign 0.03
R7034:Hycc2 UTSW 1 58,574,696 (GRCm39) missense probably benign 0.17
R7036:Hycc2 UTSW 1 58,574,696 (GRCm39) missense probably benign 0.17
R7100:Hycc2 UTSW 1 58,573,653 (GRCm39) missense possibly damaging 0.94
R7237:Hycc2 UTSW 1 58,569,107 (GRCm39) nonsense probably null
R7378:Hycc2 UTSW 1 58,569,193 (GRCm39) missense probably benign 0.00
R7403:Hycc2 UTSW 1 58,587,861 (GRCm39) missense possibly damaging 0.59
R8015:Hycc2 UTSW 1 58,574,641 (GRCm39) missense possibly damaging 0.59
R8249:Hycc2 UTSW 1 58,573,796 (GRCm39) missense probably benign 0.10
R8544:Hycc2 UTSW 1 58,568,981 (GRCm39) missense probably benign 0.09
R8726:Hycc2 UTSW 1 58,585,285 (GRCm39) missense possibly damaging 0.82
R8829:Hycc2 UTSW 1 58,587,832 (GRCm39) missense possibly damaging 0.86
R8832:Hycc2 UTSW 1 58,587,832 (GRCm39) missense possibly damaging 0.86
R8847:Hycc2 UTSW 1 58,595,713 (GRCm39) missense probably damaging 1.00
R9046:Hycc2 UTSW 1 58,568,945 (GRCm39) missense probably damaging 0.99
R9177:Hycc2 UTSW 1 58,591,361 (GRCm39) missense probably damaging 1.00
R9268:Hycc2 UTSW 1 58,591,361 (GRCm39) missense probably damaging 1.00
R9472:Hycc2 UTSW 1 58,574,641 (GRCm39) missense possibly damaging 0.59
Posted On 2014-05-07