Incidental Mutation 'IGL00468:Hycc2'
ID 7466
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 # IGL00468
Quality Score
Status
Chromosome 1
Chromosomal Location 58561965-58625482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 58569391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 396 (E396A)
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: E340A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174
AA Change: E340A

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 1.7e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097724
AA Change: E396A

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174
AA Change: E396A

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: E340A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174
AA Change: E340A

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,630,453 (GRCm39) E123G probably damaging Het
Alpk2 A T 18: 65,438,894 (GRCm39) L1300Q probably benign Het
Armc9 T C 1: 86,126,061 (GRCm39) Y51H probably damaging Het
Bcl11b A G 12: 107,932,074 (GRCm39) V166A possibly damaging Het
Cfap70 T A 14: 20,462,530 (GRCm39) D565V possibly damaging Het
Cops5 C A 1: 10,104,295 (GRCm39) G132W probably damaging Het
Dync1i1 G A 6: 5,972,135 (GRCm39) V468M probably damaging Het
Fasn A C 11: 120,711,365 (GRCm39) D216E probably damaging Het
Fktn T A 4: 53,734,866 (GRCm39) I168K probably benign Het
Gal3st2c A G 1: 93,936,771 (GRCm39) R239G probably benign Het
Glt6d1 A C 2: 25,701,041 (GRCm39) L36R probably damaging Het
Herc3 A G 6: 58,895,751 (GRCm39) I1000V probably benign Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Lhcgr C T 17: 89,049,874 (GRCm39) V551I probably benign Het
Lmna G T 3: 88,391,991 (GRCm39) S437R probably benign Het
Lrrc49 A G 9: 60,595,151 (GRCm39) probably benign Het
Lrriq3 A G 3: 154,806,816 (GRCm39) D155G probably damaging Het
Mcf2 G A X: 59,179,095 (GRCm39) T104I probably damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mipep A G 14: 61,112,709 (GRCm39) E664G probably benign Het
Mybpc1 A T 10: 88,385,124 (GRCm39) V519D probably damaging Het
Nfil3 C A 13: 53,121,610 (GRCm39) L431F probably damaging Het
Sctr T A 1: 119,972,450 (GRCm39) V197E probably damaging Het
Sesn2 T C 4: 132,227,124 (GRCm39) T103A probably benign Het
Sptbn4 A T 7: 27,117,390 (GRCm39) V453D probably damaging Het
Supt5 A T 7: 28,014,807 (GRCm39) H1023Q probably benign Het
Tcof1 T C 18: 60,947,640 (GRCm39) probably benign Het
Tekt2 T A 4: 126,216,982 (GRCm39) E262D possibly damaging Het
Tenm4 T A 7: 96,523,679 (GRCm39) H1732Q probably damaging Het
Tln2 T C 9: 67,251,469 (GRCm39) D840G possibly damaging Het
Tox4 A G 14: 52,523,202 (GRCm39) D54G probably damaging Het
Other mutations in Hycc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Hycc2 APN 1 58,579,412 (GRCm39) splice site probably benign
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
IGL02023:Hycc2 APN 1 58,569,274 (GRCm39) missense possibly damaging 0.53
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 2012-04-20