Incidental Mutation 'IGL01148:Hddc2'
ID 52183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hddc2
Ensembl Gene ENSMUSG00000000295
Gene Name HD domain containing 2
Synonyms 2310057G13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01148
Quality Score
Status
Chromosome 10
Chromosomal Location 31189379-31204200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31192330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 78 (I78T)
Ref Sequence ENSEMBL: ENSMUSP00000000304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000304] [ENSMUST00000159194]
AlphaFold Q3SXD3
Predicted Effect probably damaging
Transcript: ENSMUST00000000304
AA Change: I78T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000304
Gene: ENSMUSG00000000295
AA Change: I78T

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
HDc 37 152 3.51e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122700
Predicted Effect possibly damaging
Transcript: ENSMUST00000159194
AA Change: I59T

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124106
Gene: ENSMUSG00000000295
AA Change: I59T

DomainStartEndE-ValueType
Pfam:HD_3 1 100 1.5e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162076
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A T 11: 69,781,729 (GRCm39) C64* probably null Het
Ccng2 G A 5: 93,418,746 (GRCm39) D124N probably damaging Het
Cttnbp2 G A 6: 18,382,817 (GRCm39) P1317L probably damaging Het
Dsg1a T A 18: 20,453,982 (GRCm39) V29E probably damaging Het
Exoc6b T C 6: 84,885,208 (GRCm39) K244E probably benign Het
Fastkd5 A G 2: 130,456,605 (GRCm39) F662L probably benign Het
Fbxl18 T C 5: 142,871,580 (GRCm39) M488V probably damaging Het
Gas2l3 C T 10: 89,249,366 (GRCm39) G584D probably benign Het
Gm28042 T C 2: 119,869,519 (GRCm39) F405L possibly damaging Het
Gtf3c2 T C 5: 31,317,168 (GRCm39) K635E probably damaging Het
H2-Q2 A G 17: 35,561,654 (GRCm39) Y48C probably damaging Het
Hspg2 T A 4: 137,273,969 (GRCm39) M2708K probably benign Het
Ift88 T C 14: 57,677,189 (GRCm39) S119P probably benign Het
Mta2 T C 19: 8,925,668 (GRCm39) C388R probably damaging Het
Mymx G T 17: 45,912,594 (GRCm39) probably benign Het
Naga A G 15: 82,214,861 (GRCm39) Y366H possibly damaging Het
Nlrp9a A G 7: 26,257,006 (GRCm39) E208G probably damaging Het
Nr4a2 C T 2: 57,001,983 (GRCm39) V94M probably benign Het
Or4c124 G T 2: 89,156,368 (GRCm39) T52K probably benign Het
Osbpl8 G T 10: 111,112,424 (GRCm39) probably benign Het
Pitpnb T A 5: 111,486,222 (GRCm39) V42D probably damaging Het
Pitrm1 A G 13: 6,623,141 (GRCm39) R801G probably benign Het
Pthlh G A 6: 147,154,073 (GRCm39) T174M probably benign Het
Sco2 T C 15: 89,255,924 (GRCm39) I243M probably benign Het
Sema5a G A 15: 32,681,641 (GRCm39) V907M probably benign Het
Semp2l1 A G 1: 32,584,735 (GRCm39) S392P possibly damaging Het
Spata31e2 T C 1: 26,724,253 (GRCm39) E309G probably benign Het
Stac2 T A 11: 97,934,387 (GRCm39) K106* probably null Het
Tas2r105 T A 6: 131,663,815 (GRCm39) R204S probably damaging Het
Tgm5 A G 2: 120,877,156 (GRCm39) probably null Het
Trpm1 A G 7: 63,893,312 (GRCm39) I939V probably damaging Het
Ttll11 T A 2: 35,674,205 (GRCm39) N574I probably damaging Het
Zfand3 A T 17: 30,354,374 (GRCm39) T64S probably benign Het
Zfyve26 G A 12: 79,307,644 (GRCm39) H312Y probably benign Het
Other mutations in Hddc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01791:Hddc2 APN 10 31,202,022 (GRCm39) missense probably damaging 1.00
IGL02069:Hddc2 APN 10 31,192,314 (GRCm39) missense probably damaging 1.00
IGL03048:Hddc2 UTSW 10 31,192,332 (GRCm39) missense possibly damaging 0.95
R0269:Hddc2 UTSW 10 31,203,942 (GRCm39) missense probably benign 0.00
R1761:Hddc2 UTSW 10 31,202,135 (GRCm39) missense probably damaging 0.99
R4290:Hddc2 UTSW 10 31,190,583 (GRCm39) missense possibly damaging 0.64
R4292:Hddc2 UTSW 10 31,190,583 (GRCm39) missense possibly damaging 0.64
R4655:Hddc2 UTSW 10 31,204,016 (GRCm39) unclassified probably benign
R5025:Hddc2 UTSW 10 31,203,949 (GRCm39) missense probably benign 0.06
R7448:Hddc2 UTSW 10 31,189,412 (GRCm39) start codon destroyed probably null
R7902:Hddc2 UTSW 10 31,196,338 (GRCm39) splice site probably null
R7902:Hddc2 UTSW 10 31,192,289 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21