Incidental Mutation 'IGL00425:Hycc2'
ID 7465
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 # IGL00425
Quality Score
Status
Chromosome 1
Chromosomal Location 58561965-58625482 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 58579412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038372] [ENSMUST00000097724] [ENSMUST00000161600] [ENSMUST00000187717]
AlphaFold Q8C729
Predicted Effect probably benign
Transcript: ENSMUST00000038372
SMART Domains Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 1.7e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097724
SMART Domains Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174

DomainStartEndE-ValueType
Pfam:Hyccin 22 330 3.3e-126 PFAM
low complexity region 374 399 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161600
SMART Domains Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 C T 14: 66,311,498 (GRCm39) probably null Het
Adgrb2 A T 4: 129,912,865 (GRCm39) H1373L probably benign Het
Adgrf4 A G 17: 42,977,547 (GRCm39) S599P probably damaging Het
Atp9b G A 18: 80,961,103 (GRCm39) probably benign Het
Baiap2 A G 11: 119,872,836 (GRCm39) T125A probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Cacna2d2 T C 9: 107,404,550 (GRCm39) S1114P probably damaging Het
Ccdc159 T C 9: 21,840,765 (GRCm39) S111P possibly damaging Het
Cd177 T A 7: 24,459,176 (GRCm39) T78S possibly damaging Het
Cdk5rap2 A G 4: 70,321,709 (GRCm39) probably null Het
Cdkl3 C A 11: 51,920,683 (GRCm39) T462K probably benign Het
Chid1 A C 7: 141,102,609 (GRCm39) L208R probably damaging Het
Clca3b A G 3: 144,542,342 (GRCm39) S487P probably benign Het
Col6a3 A T 1: 90,709,748 (GRCm39) L1816Q unknown Het
Dido1 A G 2: 180,325,782 (GRCm39) S469P probably benign Het
Dsg2 A G 18: 20,734,826 (GRCm39) N935D probably benign Het
Fbxw2 A G 2: 34,702,961 (GRCm39) I184T probably benign Het
Gbp9 T C 5: 105,253,620 (GRCm39) I32V possibly damaging Het
Itgb8 G A 12: 119,153,561 (GRCm39) T318I probably damaging Het
Kcnb2 A G 1: 15,781,236 (GRCm39) S703G probably benign Het
Kif26b A T 1: 178,743,866 (GRCm39) S1321C probably damaging Het
Klb A G 5: 65,529,717 (GRCm39) N415S possibly damaging Het
Megf10 C A 18: 57,373,700 (GRCm39) A166D probably damaging Het
Mrm3 T G 11: 76,135,319 (GRCm39) S177A probably damaging Het
Nav3 A G 10: 109,539,368 (GRCm39) F2011S probably benign Het
Nipal1 C T 5: 72,816,067 (GRCm39) S30L probably benign Het
Ogdhl T C 14: 32,068,447 (GRCm39) Y895H probably damaging Het
Pif1 A G 9: 65,500,559 (GRCm39) N495D probably damaging Het
Prrc2c A T 1: 162,548,182 (GRCm39) probably null Het
Pygl T C 12: 70,237,866 (GRCm39) D724G probably damaging Het
Runx1t1 A G 4: 13,835,663 (GRCm39) D40G probably benign Het
Serhl A T 15: 82,989,838 (GRCm39) D192V possibly damaging Het
Slc12a5 C T 2: 164,825,201 (GRCm39) A461V probably damaging Het
Tomm34 A T 2: 163,900,582 (GRCm39) probably benign Het
Zfp54 A G 17: 21,650,559 (GRCm39) N45D probably damaging Het
Other mutations in Hycc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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