Incidental Mutation 'R5508:Asphd2'
ID 431029
Institutional Source Beutler Lab
Gene Symbol Asphd2
Ensembl Gene ENSMUSG00000029348
Gene Name aspartate beta-hydroxylase domain containing 2
Synonyms 9230106G13Rik, 2900006N09Rik
MMRRC Submission 043069-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R5508 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 112532220-112542732 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112534649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 300 (F300I)
Ref Sequence ENSEMBL: ENSMUSP00000031291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031291] [ENSMUST00000196256] [ENSMUST00000199906] [ENSMUST00000200227]
AlphaFold Q80VP9
Predicted Effect probably damaging
Transcript: ENSMUST00000031291
AA Change: F300I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031291
Gene: ENSMUSG00000029348
AA Change: F300I

DomainStartEndE-ValueType
Pfam:Asp_Arg_Hydrox 166 325 8.3e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196256
SMART Domains Protein: ENSMUSP00000143290
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: ENSMUST00000199906
SMART Domains Protein: ENSMUSP00000142332
Gene: ENSMUSG00000029348

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 33 52 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200227
SMART Domains Protein: ENSMUSP00000142729
Gene: ENSMUSG00000029348

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 33 50 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.4%
  • 10x: 95.7%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Apc A G 18: 34,431,633 (GRCm39) D344G probably damaging Het
BC016579 T A 16: 45,453,369 (GRCm39) T149S possibly damaging Het
Bcl6b A T 11: 70,116,919 (GRCm39) H453Q probably damaging Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Clec4b2 A G 6: 123,150,001 (GRCm39) probably benign Het
Crispld1 G T 1: 17,823,207 (GRCm39) C396F probably damaging Het
Dnase1l3 A G 14: 7,968,146 (GRCm38) V253A probably damaging Het
Efhd1 A G 1: 87,237,516 (GRCm39) *241W probably null Het
Flvcr1 C T 1: 190,757,656 (GRCm39) G212D probably damaging Het
Golga2 T A 2: 32,178,199 (GRCm39) L36* probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtf3c2 G T 5: 31,331,805 (GRCm39) C4* probably null Het
Kit G T 5: 75,810,208 (GRCm39) C786F probably damaging Het
Klf14 T C 6: 30,934,977 (GRCm39) H219R probably damaging Het
Large2 A G 2: 92,200,248 (GRCm39) V122A possibly damaging Het
Lct G A 1: 128,221,868 (GRCm39) A1557V probably damaging Het
Lrp6 T G 6: 134,441,479 (GRCm39) K1162N probably benign Het
Mtmr11 G A 3: 96,071,084 (GRCm39) R147Q probably damaging Het
Pbld2 T A 10: 62,902,444 (GRCm39) probably null Het
Pcdhb3 A T 18: 37,434,179 (GRCm39) L48F probably damaging Het
Pdcd2 C T 17: 15,742,001 (GRCm39) D310N probably damaging Het
Phlpp1 G T 1: 106,292,120 (GRCm39) R993L probably benign Het
Prr36 G A 8: 4,266,488 (GRCm39) P21S probably damaging Het
Ptprq C A 10: 107,522,092 (GRCm39) V620L probably benign Het
Ranbp2 T A 10: 58,315,827 (GRCm39) D2182E probably damaging Het
Sass6 G A 3: 116,413,752 (GRCm39) R485K probably benign Het
Scoc A T 8: 84,162,571 (GRCm39) S68T probably damaging Het
Speer3 T A 5: 13,844,678 (GRCm39) L114I probably damaging Het
Ss18l1 C G 2: 179,699,446 (GRCm39) Q215E probably damaging Het
Stab2 T C 10: 86,796,143 (GRCm39) N368S probably benign Het
Trim80 T A 11: 115,335,904 (GRCm39) S275R probably benign Het
Tubb5 T C 17: 36,145,962 (GRCm39) N416S probably benign Het
Ugt2a3 A T 5: 87,475,059 (GRCm39) M395K probably damaging Het
Vmn2r61 T A 7: 41,916,242 (GRCm39) M285K possibly damaging Het
Xpo1 A G 11: 23,244,645 (GRCm39) I1008V probably benign Het
Other mutations in Asphd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0487:Asphd2 UTSW 5 112,539,501 (GRCm39) missense possibly damaging 0.76
R0836:Asphd2 UTSW 5 112,539,635 (GRCm39) missense probably damaging 1.00
R1255:Asphd2 UTSW 5 112,539,677 (GRCm39) missense probably damaging 1.00
R4751:Asphd2 UTSW 5 112,539,612 (GRCm39) missense probably damaging 1.00
R5936:Asphd2 UTSW 5 112,533,623 (GRCm39) nonsense probably null
R6351:Asphd2 UTSW 5 112,533,698 (GRCm39) missense probably damaging 0.99
R7605:Asphd2 UTSW 5 112,539,807 (GRCm39) missense probably damaging 0.96
R8339:Asphd2 UTSW 5 112,539,501 (GRCm39) missense possibly damaging 0.76
R9041:Asphd2 UTSW 5 112,539,768 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TACCCACGTGGAGATACTACTG -3'
(R):5'- AGATGACGCACAGTGTGGAC -3'

Sequencing Primer
(F):5'- CCACGTGGAGATACTACTGTACATG -3'
(R):5'- CTTGTGTGTGCTCCCCAGAG -3'
Posted On 2016-10-05