Incidental Mutation 'R0841:Hddc3'
ID 77163
Institutional Source Beutler Lab
Gene Symbol Hddc3
Ensembl Gene ENSMUSG00000030532
Gene Name HD domain containing 3
Synonyms 1110033O09Rik
MMRRC Submission 039020-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0841 (G1)
Quality Score 171
Status Validated
Chromosome 7
Chromosomal Location 79992852-80000295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79995401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 139 (S139T)
Ref Sequence ENSEMBL: ENSMUSP00000032747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032747] [ENSMUST00000098346] [ENSMUST00000107368] [ENSMUST00000205531] [ENSMUST00000205744] [ENSMUST00000206074] [ENSMUST00000206089] [ENSMUST00000205768] [ENSMUST00000206122] [ENSMUST00000206480]
AlphaFold Q9D114
Predicted Effect probably benign
Transcript: ENSMUST00000032747
AA Change: S139T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032747
Gene: ENSMUSG00000030532
AA Change: S139T

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
HDc 28 136 1.01e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098346
SMART Domains Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
coiled coil region 44 75 N/A INTRINSIC
Pfam:Glyco_hydro_38 167 497 1.9e-109 PFAM
Alpha-mann_mid 502 588 1.4e-32 SMART
Pfam:Glyco_hydro_38C 648 1148 1.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107368
SMART Domains Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533

DomainStartEndE-ValueType
TPR 21 54 9.53e-2 SMART
TPR 58 91 5.48e-2 SMART
TPR 92 125 7.45e-4 SMART
Blast:ARM 183 224 6e-9 BLAST
Blast:ARM 226 266 1e-7 BLAST
Pfam:UNC45-central 314 505 2.4e-38 PFAM
Blast:ARM 679 717 4e-13 BLAST
Blast:ARM 720 762 4e-12 BLAST
Blast:ARM 764 804 8e-16 BLAST
low complexity region 833 845 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205318
Predicted Effect probably benign
Transcript: ENSMUST00000205448
Predicted Effect probably benign
Transcript: ENSMUST00000205531
Predicted Effect probably benign
Transcript: ENSMUST00000205744
Predicted Effect probably benign
Transcript: ENSMUST00000206559
Predicted Effect probably benign
Transcript: ENSMUST00000206074
Predicted Effect probably benign
Transcript: ENSMUST00000206089
Predicted Effect probably benign
Transcript: ENSMUST00000205768
Predicted Effect probably benign
Transcript: ENSMUST00000206122
Predicted Effect probably benign
Transcript: ENSMUST00000206480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206494
Meta Mutation Damage Score 0.0651 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.4%
  • 20x: 94.1%
Validation Efficiency 94% (45/48)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T A 4: 73,860,986 (GRCm39) M205L probably benign Het
Aass A T 6: 23,075,810 (GRCm39) C776S probably benign Het
Abi3bp T C 16: 56,488,639 (GRCm39) S1257P possibly damaging Het
Arhgap9 T A 10: 127,165,508 (GRCm39) M639K probably damaging Het
Ctsj C T 13: 61,150,357 (GRCm39) S214N probably damaging Het
Dnali1 T C 4: 124,959,340 (GRCm39) S18G possibly damaging Het
Eif4g3 C T 4: 137,893,129 (GRCm39) T959M probably damaging Het
Eml3 G A 19: 8,915,049 (GRCm39) M635I probably benign Het
Eml6 A G 11: 29,727,430 (GRCm39) F1231L probably benign Het
Fat4 A C 3: 39,050,147 (GRCm39) K4003T probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fgfr2 G A 7: 129,863,635 (GRCm39) P4S probably benign Het
Fgfr2 T C 7: 130,373,737 (GRCm39) probably benign Het
Glp1r T C 17: 31,138,406 (GRCm39) V160A probably benign Het
Gm9726 C T 12: 93,895,054 (GRCm39) noncoding transcript Het
Gm9956 C A 10: 56,621,424 (GRCm39) L29M unknown Het
Gm9956 T A 10: 56,621,425 (GRCm39) L29Q unknown Het
Hmcn1 A T 1: 150,555,358 (GRCm39) probably null Het
Inpp5k T C 11: 75,524,285 (GRCm39) probably benign Het
Kcnq1 A G 7: 142,661,189 (GRCm39) K32E probably benign Het
Krtdap A T 7: 30,488,975 (GRCm39) probably benign Het
Ldb2 A G 5: 44,690,016 (GRCm39) L201P probably damaging Het
Mdn1 T C 4: 32,752,032 (GRCm39) V4590A probably benign Het
Nip7 C A 8: 107,784,007 (GRCm39) H82Q probably benign Het
Odad2 G T 18: 7,268,436 (GRCm39) P361Q probably damaging Het
Or52l1 A T 7: 104,830,061 (GRCm39) V168E probably damaging Het
Otud6b T A 4: 14,812,532 (GRCm39) T272S probably benign Het
Plxna1 A G 6: 89,309,186 (GRCm39) V1131A probably damaging Het
Prl7a1 T A 13: 27,826,393 (GRCm39) probably benign Het
Sipa1 C A 19: 5,704,835 (GRCm39) A587S probably benign Het
Slc17a6 A T 7: 51,275,063 (GRCm39) I41F probably benign Het
Slc43a2 T A 11: 75,457,815 (GRCm39) Y363* probably null Het
Smg1 A T 7: 117,742,524 (GRCm39) L3230Q possibly damaging Het
Snapc1 C T 12: 74,021,780 (GRCm39) probably benign Het
Syne2 T C 12: 76,121,209 (GRCm39) probably benign Het
Tap2 C A 17: 34,434,914 (GRCm39) D652E possibly damaging Het
Trp53rkb T C 2: 166,637,430 (GRCm39) C129R probably benign Het
Ugt2a2 T C 5: 87,622,648 (GRCm39) T317A probably benign Het
Ugt3a1 G A 15: 9,306,214 (GRCm39) S121N probably benign Het
Unc80 T C 1: 66,511,247 (GRCm39) V85A probably damaging Het
Vmn2r71 A G 7: 85,267,749 (GRCm39) T68A possibly damaging Het
Zfp7 G A 15: 76,775,704 (GRCm39) C582Y probably damaging Het
Other mutations in Hddc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2411:Hddc3 UTSW 7 79,993,341 (GRCm39) missense probably damaging 1.00
R4741:Hddc3 UTSW 7 79,995,464 (GRCm39) missense probably benign 0.23
R5177:Hddc3 UTSW 7 79,992,914 (GRCm39) missense probably damaging 1.00
R5286:Hddc3 UTSW 7 79,993,543 (GRCm39) missense probably damaging 0.98
R6044:Hddc3 UTSW 7 79,993,332 (GRCm39) missense probably benign 0.00
R6736:Hddc3 UTSW 7 79,992,944 (GRCm39) missense possibly damaging 0.79
R6996:Hddc3 UTSW 7 79,993,498 (GRCm39) missense possibly damaging 0.79
R9228:Hddc3 UTSW 7 79,993,328 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCCCTAAGGTGGGAACAGAGTTGC -3'
(R):5'- AAGAAAGGCTGTTAGTGCCTGGATG -3'

Sequencing Primer
(F):5'- GGAACAGAGTTGCTGGGTC -3'
(R):5'- AGTAAGAATCCCATCTTTCCTGGAC -3'
Posted On 2013-10-16