Incidental Mutation 'R5504:Asphd1'
ID 430828
Institutional Source Beutler Lab
Gene Symbol Asphd1
Ensembl Gene ENSMUSG00000046378
Gene Name aspartate beta-hydroxylase domain containing 1
Synonyms A830007L07Rik
MMRRC Submission 043065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R5504 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126545159-126548754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126545350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 336 (I336V)
Ref Sequence ENSEMBL: ENSMUSP00000101947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032924] [ENSMUST00000052937] [ENSMUST00000106332] [ENSMUST00000106333] [ENSMUST00000106335] [ENSMUST00000106339] [ENSMUST00000106340] [ENSMUST00000146017]
AlphaFold Q2TA57
Predicted Effect probably benign
Transcript: ENSMUST00000032924
SMART Domains Protein: ENSMUSP00000032924
Gene: ENSMUSG00000030685

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 18 32 N/A INTRINSIC
BTB 41 141 6.48e-15 SMART
low complexity region 276 314 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000052937
AA Change: I85V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049848
Gene: ENSMUSG00000046378
AA Change: I85V

DomainStartEndE-ValueType
Pfam:Asp_Arg_Hydrox 1 92 5.5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106332
SMART Domains Protein: ENSMUSP00000101939
Gene: ENSMUSG00000030683

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 70 86 N/A INTRINSIC
low complexity region 93 108 N/A INTRINSIC
CUB 113 226 8.25e-4 SMART
CCP 230 285 3.75e-15 SMART
CUB 289 399 1.3e-3 SMART
CCP 404 463 8.9e-8 SMART
CUB 467 578 3.45e-14 SMART
CCP 584 639 1.18e-12 SMART
CCP 645 704 1.31e-14 SMART
CCP 711 768 2.76e-13 SMART
transmembrane domain 798 820 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106333
SMART Domains Protein: ENSMUSP00000101940
Gene: ENSMUSG00000030683

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 115 146 N/A INTRINSIC
low complexity region 153 168 N/A INTRINSIC
CUB 173 286 8.25e-4 SMART
CCP 290 345 3.75e-15 SMART
CUB 349 459 1.3e-3 SMART
CCP 464 523 8.9e-8 SMART
CUB 527 638 3.45e-14 SMART
CCP 644 699 1.18e-12 SMART
CCP 705 764 1.31e-14 SMART
CCP 771 828 2.76e-13 SMART
transmembrane domain 858 880 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106335
SMART Domains Protein: ENSMUSP00000101942
Gene: ENSMUSG00000030683

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 115 146 N/A INTRINSIC
low complexity region 153 168 N/A INTRINSIC
CUB 173 286 8.25e-4 SMART
CCP 290 345 3.75e-15 SMART
CUB 349 459 1.3e-3 SMART
CCP 464 523 8.9e-8 SMART
CUB 527 638 3.45e-14 SMART
CCP 644 699 1.18e-12 SMART
CCP 705 764 1.31e-14 SMART
CCP 771 828 2.76e-13 SMART
transmembrane domain 845 867 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106339
AA Change: I85V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101946
Gene: ENSMUSG00000046378
AA Change: I85V

DomainStartEndE-ValueType
Pfam:Asp_Arg_Hydrox 1 92 5.5e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106340
AA Change: I336V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101947
Gene: ENSMUSG00000046378
AA Change: I336V

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
low complexity region 115 128 N/A INTRINSIC
low complexity region 138 153 N/A INTRINSIC
low complexity region 157 170 N/A INTRINSIC
Pfam:Asp_Arg_Hydrox 191 342 1.4e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139233
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123117
Predicted Effect probably benign
Transcript: ENSMUST00000146017
SMART Domains Protein: ENSMUSP00000115905
Gene: ENSMUSG00000030683

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 72 91 N/A INTRINSIC
Meta Mutation Damage Score 0.0849 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l C T 8: 44,078,319 (GRCm39) C635Y probably damaging Het
Akr1b7 A G 6: 34,396,453 (GRCm39) probably null Het
Amy2a1 T G 3: 113,325,318 (GRCm39) D92A probably benign Het
Angel2 A G 1: 190,676,083 (GRCm39) T455A probably damaging Het
Angptl2 T C 2: 33,119,050 (GRCm39) probably benign Het
Ankrd40 A G 11: 94,219,153 (GRCm39) E25G probably benign Het
Asb18 T A 1: 89,920,746 (GRCm39) D136V probably damaging Het
Birc6 C T 17: 74,962,208 (GRCm39) P58S probably damaging Het
Bsx A T 9: 40,785,460 (GRCm39) probably benign Het
Cabin1 A G 10: 75,488,843 (GRCm39) L1965P probably benign Het
Capza3 A T 6: 139,988,165 (GRCm39) I255L probably benign Het
Ccdc185 G T 1: 182,575,192 (GRCm39) A499E probably damaging Het
Cfhr4 A T 1: 139,629,558 (GRCm39) S749T probably benign Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Colgalt2 G A 1: 152,276,054 (GRCm39) V56M possibly damaging Het
Dennd1b A T 1: 139,018,246 (GRCm39) T197S probably benign Het
Dhx30 A G 9: 109,914,278 (GRCm39) Y1000H probably benign Het
Dlg2 C T 7: 92,091,865 (GRCm39) A910V probably damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dock5 T C 14: 68,040,535 (GRCm39) D884G probably benign Het
Fhad1 A G 4: 141,712,846 (GRCm39) S198P probably benign Het
Gabpa T C 16: 84,649,446 (GRCm39) S218P probably benign Het
Gm17654 A T 14: 43,815,494 (GRCm39) N104K unknown Het
Gm4775 T C 14: 106,338,389 (GRCm39) noncoding transcript Het
Gvin3 T A 7: 106,201,951 (GRCm39) noncoding transcript Het
Heatr1 T A 13: 12,421,500 (GRCm39) S467T possibly damaging Het
Hecw1 A G 13: 14,515,487 (GRCm39) M215T probably benign Het
Hmgn2 A T 4: 133,694,114 (GRCm39) probably benign Het
Kncn T A 4: 115,742,062 (GRCm39) I43N possibly damaging Het
Lgals3bp G T 11: 118,284,811 (GRCm39) T256N probably benign Het
Mpi T C 9: 57,452,500 (GRCm39) D344G probably damaging Het
Myom2 G A 8: 15,178,879 (GRCm39) E1304K probably damaging Het
Npat T A 9: 53,481,564 (GRCm39) F1091I probably benign Het
Nrcam T G 12: 44,610,915 (GRCm39) probably null Het
Or2a7 T A 6: 43,151,572 (GRCm39) Y217* probably null Het
Or4c114 C T 2: 88,905,024 (GRCm39) R137Q probably benign Het
Or56a4 T C 7: 104,806,383 (GRCm39) K169E probably benign Het
Pappa2 A G 1: 158,675,615 (GRCm39) S1044P probably benign Het
Pcnx4 T C 12: 72,621,222 (GRCm39) L1014S probably damaging Het
Pear1 G A 3: 87,660,002 (GRCm39) probably benign Het
Piwil2 T A 14: 70,627,348 (GRCm39) Y797F probably benign Het
Ppp2r1b T G 9: 50,770,187 (GRCm39) L81R probably damaging Het
Pxdn C A 12: 30,052,800 (GRCm39) H812Q probably damaging Het
Rad21l A T 2: 151,510,357 (GRCm39) F33I probably damaging Het
Rgs13 A T 1: 144,015,358 (GRCm39) C120S possibly damaging Het
Rp1 G A 1: 4,420,113 (GRCm39) T333M probably damaging Het
Sema6d T A 2: 124,499,941 (GRCm39) V339E probably damaging Het
Serpina3i T A 12: 104,232,862 (GRCm39) Y256N probably damaging Het
Slc13a1 A T 6: 24,150,743 (GRCm39) M65K possibly damaging Het
Slco6d1 A G 1: 98,349,064 (GRCm39) K45R probably damaging Het
Src T C 2: 157,306,641 (GRCm39) Y215H probably damaging Het
Synj2 T C 17: 6,086,750 (GRCm39) V384A possibly damaging Het
Tmeff1 T C 4: 48,650,396 (GRCm39) S285P probably damaging Het
Vmn2r125 A G 4: 156,703,456 (GRCm39) D278G possibly damaging Het
Vmn2r45 T C 7: 8,486,176 (GRCm39) K371E probably benign Het
Zfp866 A T 8: 70,218,341 (GRCm39) H426Q probably benign Het
Other mutations in Asphd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02388:Asphd1 APN 7 126,545,884 (GRCm39) unclassified probably benign
IGL02675:Asphd1 APN 7 126,546,006 (GRCm39) unclassified probably benign
IGL03133:Asphd1 APN 7 126,547,452 (GRCm39) missense possibly damaging 0.85
IGL03197:Asphd1 APN 7 126,545,298 (GRCm39) missense probably damaging 1.00
BB002:Asphd1 UTSW 7 126,547,628 (GRCm39) missense probably damaging 0.99
BB012:Asphd1 UTSW 7 126,547,628 (GRCm39) missense probably damaging 0.99
R1572:Asphd1 UTSW 7 126,548,271 (GRCm39) missense probably benign
R4871:Asphd1 UTSW 7 126,547,747 (GRCm39) missense possibly damaging 0.84
R4952:Asphd1 UTSW 7 126,547,857 (GRCm39) missense probably benign 0.05
R5261:Asphd1 UTSW 7 126,545,287 (GRCm39) missense probably benign 0.12
R6254:Asphd1 UTSW 7 126,548,040 (GRCm39) missense probably benign 0.00
R7068:Asphd1 UTSW 7 126,547,850 (GRCm39) missense probably benign 0.00
R7250:Asphd1 UTSW 7 126,545,942 (GRCm39) missense probably damaging 1.00
R7397:Asphd1 UTSW 7 126,548,001 (GRCm39) missense possibly damaging 0.91
R7925:Asphd1 UTSW 7 126,547,628 (GRCm39) missense probably damaging 0.99
R8306:Asphd1 UTSW 7 126,547,784 (GRCm39) missense probably damaging 1.00
R9202:Asphd1 UTSW 7 126,547,934 (GRCm39) missense probably damaging 0.99
R9622:Asphd1 UTSW 7 126,547,974 (GRCm39) missense
Z1176:Asphd1 UTSW 7 126,547,808 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCAATGCTGGCTGAGGAG -3'
(R):5'- CTACCACTGTAAATGCCAGGTATG -3'

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