Incidental Mutation 'IGL02657:Hycc2'
ID 302404
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 # IGL02657
Quality Score
Status
Chromosome 1
Chromosomal Location 58561965-58625482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58574561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 327 (W327R)
Ref Sequence ENSEMBL: ENSMUSP00000123728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038372] [ENSMUST00000097724] [ENSMUST00000161600] [ENSMUST00000187717]
AlphaFold Q8C729
Predicted Effect probably damaging
Transcript: ENSMUST00000038372
AA Change: W327R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174
AA Change: W327R

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 1.7e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097724
AA Change: W327R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174
AA Change: W327R

DomainStartEndE-ValueType
Pfam:Hyccin 22 330 3.3e-126 PFAM
low complexity region 374 399 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161600
AA Change: W327R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174
AA Change: W327R

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,725,648 (GRCm39) V120M possibly damaging Het
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L 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
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
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 2015-04-16