Incidental Mutation 'R4292:Hddc2'
ID323125
Institutional Source Beutler Lab
Gene Symbol Hddc2
Ensembl Gene ENSMUSG00000000295
Gene NameHD domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #R4292 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location31313383-31328204 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 31314587 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 48 (M48L)
Ref Sequence ENSEMBL: ENSMUSP00000000304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000304] [ENSMUST00000159194]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000304
AA Change: M48L

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000000304
Gene: ENSMUSG00000000295
AA Change: M48L

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 probably benign
Transcript: ENSMUST00000159194
AA Change: M29L

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124106
Gene: ENSMUSG00000000295
AA Change: M29L

DomainStartEndE-ValueType
Pfam:HD_3 1 100 1.5e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162076
Meta Mutation Damage Score 0.242 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,795,996 K1232E possibly damaging Het
Angel1 A G 12: 86,720,283 Y440H probably damaging Het
Bclaf1 A G 10: 20,323,778 Q20R probably damaging Het
Bivm A T 1: 44,138,633 R364S probably damaging Het
Brwd1 G A 16: 96,017,604 P1343S probably damaging Het
C330027C09Rik T A 16: 49,013,249 F571Y probably benign Het
Cckar A G 5: 53,706,497 S41P probably benign Het
Cep68 A T 11: 20,240,079 V311D probably damaging Het
Fhdc1 C A 3: 84,444,826 V1031F probably benign Het
Gcn1l1 G A 5: 115,576,148 A116T possibly damaging Het
Gucy1a1 A T 3: 82,094,759 F671Y possibly damaging Het
Kif18a A T 2: 109,298,126 I376L probably damaging Het
Lbr C T 1: 181,820,702 C398Y probably damaging Het
Myh2 A G 11: 67,194,897 K1855R possibly damaging Het
Olfr1396 T A 11: 49,113,427 I100L probably benign Het
Olfr1450 G A 19: 12,954,156 C189Y possibly damaging Het
Olfr926 A G 9: 38,877,313 I46V probably damaging Het
Pcdhb5 T A 18: 37,322,681 S705T possibly damaging Het
Pdss2 A G 10: 43,221,838 Y26C probably benign Het
Pgm2l1 A G 7: 100,250,301 T41A probably damaging Het
Prss58 T C 6: 40,897,310 D144G probably damaging Het
Rrp12 T C 19: 41,872,905 probably null Het
Sash1 A G 10: 8,730,242 S795P possibly damaging Het
Sec16a A G 2: 26,422,155 Y1998H probably benign Het
Slc22a21 T C 11: 53,969,503 D34G probably damaging Het
Slco4c1 C G 1: 96,844,656 probably null Het
Srsf6 T C 2: 162,934,716 probably benign Het
Tgfb2 T C 1: 186,632,538 H253R probably damaging Het
Top3b A T 16: 16,883,519 I232F probably damaging Het
Trim24 G A 6: 37,900,692 R39H possibly damaging Het
Tsc22d1 T A 14: 76,418,880 M851K probably benign Het
Ttn A G 2: 76,932,511 V3268A possibly damaging Het
Unc79 A T 12: 103,183,444 Q2599L probably damaging Het
Vmn1r192 T A 13: 22,187,295 I252F probably damaging Het
Vwce A G 19: 10,659,632 T693A probably benign Het
Other mutations in Hddc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Hddc2 APN 10 31316334 missense probably damaging 0.99
IGL01791:Hddc2 APN 10 31326026 missense probably damaging 1.00
IGL02069:Hddc2 APN 10 31316318 missense probably damaging 1.00
IGL03048:Hddc2 UTSW 10 31316336 missense possibly damaging 0.95
R0269:Hddc2 UTSW 10 31327946 missense probably benign 0.00
R1761:Hddc2 UTSW 10 31326139 missense probably damaging 0.99
R4290:Hddc2 UTSW 10 31314587 missense possibly damaging 0.64
R4655:Hddc2 UTSW 10 31328020 unclassified probably benign
R5025:Hddc2 UTSW 10 31327953 missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- ACCACGACTCAGCTGACATG -3'
(R):5'- TCACACATATTCACCCTTTAAGGC -3'

Sequencing Primer
(F):5'- ACTCAGCTGACATGTGGCTCTG -3'
(R):5'- AAGGCCCTAACTTCTCACTTG -3'
Posted On2015-06-20