Incidental Mutation 'R5025:Hddc2'
ID 391302
Institutional Source Beutler Lab
Gene Symbol Hddc2
Ensembl Gene ENSMUSG00000000295
Gene Name HD domain containing 2
Synonyms 2310057G13Rik
MMRRC Submission 042616-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5025 (G1)
Quality Score 221
Status Validated
Chromosome 10
Chromosomal Location 31189379-31204200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31203949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 192 (T192I)
Ref Sequence ENSEMBL: ENSMUSP00000000304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000304] [ENSMUST00000000305] [ENSMUST00000159194] [ENSMUST00000213528] [ENSMUST00000213639] [ENSMUST00000215515] [ENSMUST00000214644]
AlphaFold Q3SXD3
Predicted Effect probably benign
Transcript: ENSMUST00000000304
AA Change: T192I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000000304
Gene: ENSMUSG00000000295
AA Change: T192I

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
HDc 37 152 3.51e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000000305
SMART Domains Protein: ENSMUSP00000000305
Gene: ENSMUSG00000000296

DomainStartEndE-ValueType
Pfam:TPD52 9 187 1.3e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159194
SMART Domains Protein: ENSMUSP00000124106
Gene: ENSMUSG00000000295

DomainStartEndE-ValueType
Pfam:HD_3 1 100 1.5e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159659
Predicted Effect probably benign
Transcript: ENSMUST00000213528
Predicted Effect probably benign
Transcript: ENSMUST00000213639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214047
Predicted Effect probably benign
Transcript: ENSMUST00000215515
Predicted Effect probably benign
Transcript: ENSMUST00000214644
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T A 7: 119,153,719 (GRCm39) F10I unknown Het
Adad1 G T 3: 37,119,359 (GRCm39) A147S probably damaging Het
Atg14 T G 14: 47,783,273 (GRCm39) N354T probably damaging Het
Brip1 T A 11: 85,955,806 (GRCm39) E902D probably benign Het
Brwd1 A G 16: 95,855,172 (GRCm39) S419P probably damaging Het
Camsap3 A G 8: 3,654,244 (GRCm39) K638R probably damaging Het
Dennd4c T A 4: 86,713,536 (GRCm39) probably null Het
Dnah3 T C 7: 119,671,128 (GRCm39) N585S probably benign Het
Eef1akmt2 C A 7: 132,453,218 (GRCm39) W38L probably damaging Het
Fasn A T 11: 120,702,734 (GRCm39) D1709E probably benign Het
Fbrsl1 T C 5: 110,565,767 (GRCm39) D179G probably damaging Het
Fbxl18 A T 5: 142,872,068 (GRCm39) I389N probably damaging Het
Fuca1 G T 4: 135,660,237 (GRCm39) G252C probably damaging Het
Fut9 T A 4: 25,620,502 (GRCm39) H104L probably damaging Het
Glra1 C T 11: 55,427,331 (GRCm39) probably null Het
Gpsm1 T C 2: 26,210,008 (GRCm39) V45A possibly damaging Het
Hadha A G 5: 30,359,959 (GRCm39) probably benign Het
Herc1 A T 9: 66,377,608 (GRCm39) K3458M possibly damaging Het
Igkv14-100 A G 6: 68,496,383 (GRCm39) D92G probably damaging Het
Il17rc T C 6: 113,449,327 (GRCm39) V88A possibly damaging Het
Inpp5j T C 11: 3,450,664 (GRCm39) D563G probably damaging Het
Lamc3 T A 2: 31,798,681 (GRCm39) N462K probably benign Het
Mrpl15 T C 1: 4,854,368 (GRCm39) probably benign Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Obi1 C T 14: 104,745,466 (GRCm39) G70E probably damaging Het
Or2n1c T C 17: 38,519,334 (GRCm39) L66P probably damaging Het
Or5b122 G T 19: 13,562,886 (GRCm39) A30S probably benign Het
Psg20 T C 7: 18,408,291 (GRCm39) *473W probably null Het
Rimbp3 A G 16: 17,027,671 (GRCm39) E365G probably damaging Het
Snai2 A G 16: 14,526,053 (GRCm39) T235A possibly damaging Het
Tg A T 15: 66,579,779 (GRCm39) Y1528F probably damaging Het
Tlr3 A G 8: 45,856,075 (GRCm39) V35A probably benign Het
Tnfsf15 T C 4: 63,648,125 (GRCm39) I172V probably benign Het
Tns1 G A 1: 73,964,641 (GRCm39) T1330I probably damaging Het
Zc3h6 T A 2: 128,852,353 (GRCm39) F330I possibly damaging Het
Zdbf2 A G 1: 63,342,809 (GRCm39) E396G 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
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
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'- TGGTCCAGCTCAGAGAACAG -3'
(R):5'- CAGAGTCTGGAGTGTTTAACAGC -3'

Sequencing Primer
(F):5'- AGCTCAGAGAACAGGGCCC -3'
(R):5'- AGAAAAGCATTCTCTTCTCCAGTC -3'
Posted On 2016-06-06