Incidental Mutation 'R1255:Asphd2'
ID151413
Institutional Source Beutler Lab
Gene Symbol Asphd2
Ensembl Gene ENSMUSG00000029348
Gene Nameaspartate beta-hydroxylase domain containing 2
Synonyms
MMRRC Submission 039322-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.208) question?
Stock #R1255 (G1)
Quality Score188
Status Not validated
Chromosome5
Chromosomal Location112384354-112394866 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 112391811 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 52 (V52G)
Ref Sequence ENSEMBL: ENSMUSP00000142729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031291] [ENSMUST00000196256] [ENSMUST00000197585] [ENSMUST00000199095] [ENSMUST00000199906] [ENSMUST00000200227]
Predicted Effect probably damaging
Transcript: ENSMUST00000031291
AA Change: V52G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031291
Gene: ENSMUSG00000029348
AA Change: V52G

DomainStartEndE-ValueType
Pfam:Asp_Arg_Hydrox 166 325 8.3e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196256
AA Change: V52G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143290
Gene: ENSMUSG00000029348
AA Change: V52G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 33 50 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000197585
SMART Domains Protein: ENSMUSP00000142418
Gene: ENSMUSG00000029348

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 33 50 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198357
Predicted Effect probably benign
Transcript: ENSMUST00000199095
Predicted Effect probably damaging
Transcript: ENSMUST00000199906
AA Change: V52G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142332
Gene: ENSMUSG00000029348
AA Change: V52G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 33 52 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200227
AA Change: V52G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142729
Gene: ENSMUSG00000029348
AA Change: V52G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 33 50 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 120,207,793 S21C probably damaging Het
Abcb10 C T 8: 123,962,052 G495D probably damaging Het
Acsf3 T C 8: 122,785,966 probably null Het
Aff3 A T 1: 38,204,884 probably null Het
Antxr2 A T 5: 97,975,372 I272N probably benign Het
Atxn3 T A 12: 101,934,334 Q230L probably damaging Het
Ccdc39 T C 3: 33,826,480 K446R probably damaging Het
Ciz1 T A 2: 32,365,876 probably null Het
Dennd5b A T 6: 149,041,650 M576K possibly damaging Het
Ebf3 C T 7: 137,225,212 V315I probably benign Het
Epha5 G T 5: 84,150,395 A383E probably damaging Het
Epha5 C T 5: 84,150,396 A383T probably damaging Het
Gimap1 T A 6: 48,743,006 V184E probably benign Het
Gtf2f1 A G 17: 57,010,982 V18A probably damaging Het
Kcnn3 A T 3: 89,652,109 D562V possibly damaging Het
Kif20b A G 19: 34,950,106 T883A probably benign Het
Kmt2c A T 5: 25,351,153 L1198Q probably damaging Het
Nipal2 T C 15: 34,584,682 I247V probably benign Het
Olfr992 T A 2: 85,400,303 I77F probably damaging Het
Rad51ap2 G T 12: 11,458,094 K672N possibly damaging Het
Rbm28 C T 6: 29,158,247 G155D probably damaging Het
Sema6a A T 18: 47,249,299 M701K probably damaging Het
Slc47a1 A T 11: 61,370,148 L142Q probably damaging Het
Snx25 A T 8: 46,116,238 N207K probably benign Het
Son T A 16: 91,664,695 V205E probably damaging Het
Spz1 C A 13: 92,575,630 V113F probably benign Het
Tcn2 T C 11: 3,922,120 T336A probably benign Het
Tln1 T C 4: 43,538,044 D1852G probably damaging Het
Ugcg C T 4: 59,207,798 P46S probably benign Het
Uhrf1bp1l T C 10: 89,745,270 I9T probably damaging Het
Zfp729a T C 13: 67,621,846 E88G probably benign Het
Other mutations in Asphd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0487:Asphd2 UTSW 5 112391635 missense probably damaging 1.00
R0836:Asphd2 UTSW 5 112391769 missense probably damaging 1.00
R4751:Asphd2 UTSW 5 112391746 missense probably damaging 1.00
R5508:Asphd2 UTSW 5 112386783 missense probably damaging 1.00
R5936:Asphd2 UTSW 5 112385757 nonsense probably null
R6351:Asphd2 UTSW 5 112385832 missense probably damaging 0.99
R7605:Asphd2 UTSW 5 112391941 missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACGCCCTGGCTGACAAAGTCAAAG -3'
(R):5'- TCAAGCACGGAGTCCCTCAAGATG -3'

Sequencing Primer
(F):5'- TGTAGAGAGTCTCGAACTCGC -3'
(R):5'- TCCCTCAAGATGTGGCTGG -3'
Posted On2014-01-29