Incidental Mutation 'IGL03197:Asphd1'
ID 412868
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asphd1
Ensembl Gene ENSMUSG00000046378
Gene Name aspartate beta-hydroxylase domain containing 1
Synonyms A830007L07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL03197
Quality Score
Status
Chromosome 7
Chromosomal Location 126545159-126548754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126545298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 353 (D353G)
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 probably benign
Transcript: ENSMUST00000052937
AA Change: D102G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000049848
Gene: ENSMUSG00000046378
AA Change: D102G

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 probably benign
Transcript: ENSMUST00000106339
AA Change: D102G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101946
Gene: ENSMUSG00000046378
AA Change: D102G

DomainStartEndE-ValueType
Pfam:Asp_Arg_Hydrox 1 92 5.5e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106340
AA Change: D353G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101947
Gene: ENSMUSG00000046378
AA Change: D353G

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 noncoding transcript
Transcript: ENSMUST00000141369
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,698,541 (GRCm39) W189R probably damaging Het
Abcb7 A T X: 103,327,797 (GRCm39) M704K possibly damaging Het
Anp32e A G 3: 95,844,364 (GRCm39) D71G probably damaging Het
Baz2b T C 2: 59,731,898 (GRCm39) K2047E possibly damaging Het
Cyp2c39 G T 19: 39,555,361 (GRCm39) V394F probably damaging Het
Ddx43 G A 9: 78,325,402 (GRCm39) M482I probably benign Het
Dnah2 A T 11: 69,350,089 (GRCm39) V2348E probably damaging Het
Fam135a A G 1: 24,083,263 (GRCm39) F304L probably damaging Het
Gabra3 A G X: 71,583,734 (GRCm39) I66T possibly damaging Het
Irf4 A T 13: 30,947,503 (GRCm39) probably benign Het
Kif11 A G 19: 37,395,475 (GRCm39) D578G probably benign Het
Lrig1 A G 6: 94,583,099 (GRCm39) S1006P probably benign Het
Mfsd14a A C 3: 116,430,012 (GRCm39) S307A probably benign Het
Mill1 A G 7: 17,998,590 (GRCm39) T267A probably benign Het
Nfyc C A 4: 120,630,958 (GRCm39) D62Y probably damaging Het
Nin T C 12: 70,073,584 (GRCm39) T1190A probably benign Het
Nup42 T C 5: 24,372,463 (GRCm39) S84P probably damaging Het
Ociad1 T C 5: 73,451,675 (GRCm39) S15P probably benign Het
Or4c104 A T 2: 88,586,545 (GRCm39) I158K probably damaging Het
Or6c69c A T 10: 129,910,548 (GRCm39) I90F probably damaging Het
Or7g25 A G 9: 19,160,098 (GRCm39) I199T probably benign Het
Pcdhb11 T A 18: 37,555,477 (GRCm39) L269* probably null Het
Pigo A C 4: 43,022,103 (GRCm39) M352R possibly damaging Het
Plch1 T C 3: 63,660,591 (GRCm39) M343V probably damaging Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Prkag1 A G 15: 98,713,058 (GRCm39) probably benign Het
Rasa4 A G 5: 136,130,866 (GRCm39) K379R probably damaging Het
Rraga G A 4: 86,494,513 (GRCm39) A120T probably damaging Het
Serpina3a C T 12: 104,082,500 (GRCm39) A91V probably damaging Het
Sik2 T C 9: 50,807,073 (GRCm39) E779G probably damaging Het
Slc15a3 T G 19: 10,832,443 (GRCm39) probably null Het
Smc1b C T 15: 84,955,064 (GRCm39) D1063N possibly damaging Het
Speer1e T G 5: 11,233,080 (GRCm39) N14K probably damaging Het
Speer1k T A 5: 11,000,501 (GRCm39) probably benign Het
Srsf12 G A 4: 33,231,040 (GRCm39) G183E probably damaging Het
Taf8 A G 17: 47,809,127 (GRCm39) S112P probably benign Het
Trhde A G 10: 114,249,213 (GRCm39) L851P probably benign Het
Wapl G T 14: 34,467,588 (GRCm39) V1182F possibly damaging Het
Zfp326 A G 5: 106,039,059 (GRCm39) I231V 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
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
R5504:Asphd1 UTSW 7 126,545,350 (GRCm39) missense possibly damaging 0.89
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
Posted On 2016-08-02