Incidental Mutation 'IGL03133:Asphd1'
ID410407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asphd1
Ensembl Gene ENSMUSG00000046378
Gene Nameaspartate beta-hydroxylase domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL03133
Quality Score
Status
Chromosome7
Chromosomal Location126945567-126949582 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 126948280 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 284 (C284R)
Ref Sequence ENSEMBL: ENSMUSP00000101947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032924] [ENSMUST00000052937] [ENSMUST00000106332] [ENSMUST00000106333] [ENSMUST00000106335] [ENSMUST00000106339] [ENSMUST00000106340] [ENSMUST00000146017]
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: C33R

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049848
Gene: ENSMUSG00000046378
AA Change: C33R

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: C33R

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101946
Gene: ENSMUSG00000046378
AA Change: C33R

DomainStartEndE-ValueType
Pfam:Asp_Arg_Hydrox 1 92 5.5e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106340
AA Change: C284R

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101947
Gene: ENSMUSG00000046378
AA Change: C284R

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: ENSMUST00000123117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139233
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,325,896 probably benign Het
Ano5 C T 7: 51,576,512 R505* probably null Het
Cep192 T A 18: 67,810,105 W158R probably benign Het
Ces2h T A 8: 105,016,779 D188E probably damaging Het
Dab1 G A 4: 104,727,580 V306I probably benign Het
Dcc A G 18: 71,262,955 probably benign Het
Dennd6b T A 15: 89,188,523 probably null Het
Dmwd T A 7: 19,076,637 V123D probably damaging Het
Eno1 A G 4: 150,245,344 probably benign Het
Fat2 G A 11: 55,286,043 T1542I probably benign Het
Fcrl1 T C 3: 87,389,392 S274P probably benign Het
Gmpr T C 13: 45,517,018 V72A probably benign Het
Kank2 T C 9: 21,795,641 E27G probably null Het
Mtor G T 4: 148,484,319 A1099S probably benign Het
Ofcc1 T C 13: 40,072,768 I763V probably benign Het
Olfr1023 G T 2: 85,887,134 E111D probably damaging Het
Olfr1065 A G 2: 86,445,658 I108T probably damaging Het
Olfr487 G T 7: 108,212,387 S47R possibly damaging Het
Olfr870 T A 9: 20,170,713 N286I probably damaging Het
Piwil1 C A 5: 128,742,029 H201N probably benign Het
Slc26a7 C T 4: 14,532,576 V433M possibly damaging Het
Spata31d1c T C 13: 65,034,985 Y114H probably benign Het
Stx7 A T 10: 24,185,038 N221I probably damaging Het
Tbc1d31 A T 15: 57,942,459 probably benign Het
Ubxn7 T G 16: 32,381,781 L393R probably damaging Het
Vit A T 17: 78,566,071 M59L probably benign Het
Vmn1r5 T A 6: 56,985,615 C92S probably benign Het
Other mutations in Asphd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02388:Asphd1 APN 7 126946712 unclassified probably benign
IGL02675:Asphd1 APN 7 126946834 unclassified probably benign
IGL03197:Asphd1 APN 7 126946126 missense probably damaging 1.00
BB002:Asphd1 UTSW 7 126948456 missense probably damaging 0.99
BB012:Asphd1 UTSW 7 126948456 missense probably damaging 0.99
R1572:Asphd1 UTSW 7 126949099 missense probably benign
R4871:Asphd1 UTSW 7 126948575 missense possibly damaging 0.84
R4952:Asphd1 UTSW 7 126948685 missense probably benign 0.05
R5261:Asphd1 UTSW 7 126946115 missense probably benign 0.12
R5504:Asphd1 UTSW 7 126946178 missense possibly damaging 0.89
R6254:Asphd1 UTSW 7 126948868 missense probably benign 0.00
R7068:Asphd1 UTSW 7 126948678 missense probably benign 0.00
R7250:Asphd1 UTSW 7 126946770 missense probably damaging 1.00
R7397:Asphd1 UTSW 7 126948829 missense possibly damaging 0.91
R7925:Asphd1 UTSW 7 126948456 missense probably damaging 0.99
R8306:Asphd1 UTSW 7 126948612 missense probably damaging 1.00
Z1176:Asphd1 UTSW 7 126948636 missense probably damaging 1.00
Posted On2016-08-02