Incidental Mutation 'IGL03048:Hddc2'
ID 391820
Institutional Source Beutler Lab
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 # IGL03048 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 31189379-31204200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31192332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 79 (V79I)
Ref Sequence ENSEMBL: ENSMUSP00000000304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000304] [ENSMUST00000159194]
AlphaFold Q3SXD3
Predicted Effect possibly damaging
Transcript: ENSMUST00000000304
AA Change: V79I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000304
Gene: ENSMUSG00000000295
AA Change: V79I

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: V60I

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124106
Gene: ENSMUSG00000000295
AA Change: V60I

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
Meta Mutation Damage Score 0.1604 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 T C 2: 26,868,711 (GRCm39) probably null Het
Anapc4 C T 5: 52,997,075 (GRCm39) T116I probably benign Het
Arhgap45 C T 10: 79,852,851 (GRCm39) R14C probably damaging Het
Bysl T C 17: 47,913,560 (GRCm39) probably null Het
Ccdc166 T A 15: 75,854,050 (GRCm39) N10I possibly damaging Het
Chd1l T C 3: 97,505,079 (GRCm39) S163G probably benign Het
Col6a3 A G 1: 90,737,970 (GRCm39) V576A possibly damaging Het
Cpped1 T C 16: 11,646,339 (GRCm39) T162A probably benign Het
Dcbld1 A T 10: 52,180,722 (GRCm39) I200F probably damaging Het
Dock6 T C 9: 21,720,866 (GRCm39) E1713G probably damaging Het
Eif4a3l1 A T 6: 136,306,198 (GRCm39) T220S probably damaging Het
Evx1 T C 6: 52,292,739 (GRCm39) L130P probably benign Het
Fam168a A G 7: 100,484,545 (GRCm39) T228A probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Firrm G A 1: 163,792,094 (GRCm39) A608V probably benign Het
Foxp4 A T 17: 48,191,765 (GRCm39) M124K unknown Het
Gabrr3 A G 16: 59,250,493 (GRCm39) H164R probably benign Het
Gapdhrt T A 14: 11,281,873 (GRCm38) I21F probably benign Het
Greb1 C T 12: 16,783,332 (GRCm39) C134Y probably damaging Het
Lbr T C 1: 181,666,109 (GRCm39) probably benign Het
Mamdc4 C T 2: 25,459,084 (GRCm39) R229K possibly damaging Het
Mtor T C 4: 148,630,847 (GRCm39) probably benign Het
Ncoa1 T C 12: 4,317,922 (GRCm39) R1137G probably damaging Het
Nlrp4d T C 7: 10,092,881 (GRCm39) noncoding transcript Het
Oasl1 T A 5: 115,075,400 (GRCm39) S487T possibly damaging Het
Oprm1 T C 10: 6,779,064 (GRCm39) I91T probably damaging Het
Or11j4 G T 14: 50,630,245 (GRCm39) V11L possibly damaging Het
Or1e26 G C 11: 73,479,831 (GRCm39) H244Q possibly damaging Het
Or8g33 A G 9: 39,338,065 (GRCm39) F101L probably benign Het
Pdzk1ip1 T A 4: 114,950,181 (GRCm39) D147E probably benign Het
Per1 A G 11: 68,995,552 (GRCm39) K711E probably damaging Het
Rab3gap1 A G 1: 127,865,214 (GRCm39) N734S probably damaging Het
Rapgefl1 T C 11: 98,727,990 (GRCm39) L4P possibly damaging Het
Sgk2 A G 2: 162,837,680 (GRCm39) Y101C probably damaging Het
Tmem129 A G 5: 33,812,811 (GRCm39) V179A possibly damaging Het
Ttn T C 2: 76,719,259 (GRCm39) probably benign Het
Ttyh2 T A 11: 114,587,521 (GRCm39) M174K probably benign Het
Vmn2r13 G A 5: 109,304,151 (GRCm39) A760V probably damaging Het
Vmn2r82 A T 10: 79,232,460 (GRCm39) I820F probably damaging Het
Zswim4 T C 8: 84,938,604 (GRCm39) M1093V possibly damaging Het
Other mutations in Hddc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Hddc2 APN 10 31,192,330 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TGTGGAACCTCCTAAAATGAGC -3'
(R):5'- ACTGGCTAGGTAGTGTCCTC -3'

Sequencing Primer
(F):5'- TCACAACCGTCTGTAATGGG -3'
(R):5'- TCCTATACTGCAACAGGGCTAGTG -3'
Posted On 2016-06-07