Incidental Mutation 'IGL02652:Asph'
ID 302213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asph
Ensembl Gene ENSMUSG00000028207
Gene Name aspartate-beta-hydroxylase
Synonyms calsequestrin-binding protein, 2310005F16Rik, aspartyl beta-hydroxylase, jumbug, BAH, Junctin, junctate, 3110001L23Rik, cI-37
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02652
Quality Score
Status
Chromosome 4
Chromosomal Location 9449085-9669344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 9529984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 347 (V347I)
Ref Sequence ENSEMBL: ENSMUSP00000103976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078139] [ENSMUST00000108339] [ENSMUST00000108340]
AlphaFold Q8BSY0
Predicted Effect probably benign
Transcript: ENSMUST00000078139
AA Change: V430I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000077273
Gene: ENSMUSG00000028207
AA Change: V430I

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Asp-B-Hydro_N 52 307 7e-104 PFAM
Pfam:TPR_6 326 357 4.4e-5 PFAM
Pfam:TPR_16 328 398 1.3e-9 PFAM
Pfam:TPR_2 439 470 2.6e-4 PFAM
Pfam:TPR_8 441 470 1.7e-3 PFAM
Pfam:Asp_Arg_Hydrox 574 728 7.6e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108339
AA Change: V347I

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103976
Gene: ENSMUSG00000028207
AA Change: V347I

DomainStartEndE-ValueType
Pfam:Asp-B-Hydro_N 1 224 1.6e-80 PFAM
Pfam:TPR_6 243 274 1.4e-4 PFAM
Pfam:TPR_16 245 315 2.5e-9 PFAM
Pfam:TPR_2 356 387 7e-4 PFAM
Pfam:Asp_Arg_Hydrox 489 646 5.3e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108340
AA Change: V414I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000103977
Gene: ENSMUSG00000028207
AA Change: V414I

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Asp-B-Hydro_N 52 291 8.6e-96 PFAM
Pfam:TPR_6 310 341 1.9e-4 PFAM
Pfam:TPR_16 312 382 2.9e-9 PFAM
Pfam:TPR_2 423 454 6.8e-4 PFAM
Pfam:Asp_Arg_Hydrox 556 713 3.8e-64 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for a mutation lacking aspartyl beta-hydroxylase expression exhibit syndactyly, facial dysmorphology, mild hard palate defects, and reduced female fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,191,795 (GRCm39) D139E probably benign Het
Ccdc138 A T 10: 58,348,901 (GRCm39) D149V probably benign Het
Cep192 A G 18: 67,991,921 (GRCm39) probably benign Het
Cnnm2 G A 19: 46,751,650 (GRCm39) R480Q probably damaging Het
Col24a1 C A 3: 145,198,056 (GRCm39) S1321* probably null Het
Cops6 T G 5: 138,159,700 (GRCm39) probably null Het
Crim1 G A 17: 78,623,106 (GRCm39) A435T probably damaging Het
Cttn G T 7: 143,995,468 (GRCm39) Q382K probably benign Het
Dhx38 A G 8: 110,282,761 (GRCm39) L635P probably damaging Het
Dmtf1 T A 5: 9,171,853 (GRCm39) T458S probably benign Het
Dnah5 T C 15: 28,366,333 (GRCm39) F2682S probably damaging Het
Dnah6 T A 6: 73,072,087 (GRCm39) Q2413L probably damaging Het
Dock10 T C 1: 80,570,561 (GRCm39) probably null Het
Engase C T 11: 118,369,776 (GRCm39) P63S probably damaging Het
Grik4 A G 9: 42,586,573 (GRCm39) V94A possibly damaging Het
Heatr6 T C 11: 83,660,558 (GRCm39) V566A probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Inpp4b G A 8: 82,497,429 (GRCm39) probably benign Het
Mertk A G 2: 128,643,190 (GRCm39) E863G probably benign Het
Muc19 T A 15: 91,762,009 (GRCm39) noncoding transcript Het
Myo9a T A 9: 59,771,211 (GRCm39) F928I probably damaging Het
Nyap2 T C 1: 81,219,435 (GRCm39) Y486H probably damaging Het
Oas1e T C 5: 120,933,470 (GRCm39) R32G probably damaging Het
Or14j2 A T 17: 37,885,836 (GRCm39) Y159* probably null Het
Or4k48 A G 2: 111,475,839 (GRCm39) F168L probably benign Het
Osbpl6 G A 2: 76,423,798 (GRCm39) R848Q probably damaging Het
Piezo2 G A 18: 63,157,546 (GRCm39) T2388I probably damaging Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Ptpn12 T C 5: 21,207,435 (GRCm39) K308E probably benign Het
Rgsl1 A G 1: 153,701,236 (GRCm39) L441P probably damaging Het
Rictor T C 15: 6,805,668 (GRCm39) probably null Het
Scn2a T A 2: 65,532,382 (GRCm39) S665T possibly damaging Het
Scn8a A G 15: 100,911,357 (GRCm39) I926V probably damaging Het
Snrpg T C 6: 86,353,510 (GRCm39) I30T probably damaging Het
Spryd3 A T 15: 102,027,425 (GRCm39) probably null Het
Svil A G 18: 5,114,531 (GRCm39) D2036G probably damaging Het
Synj2 A T 17: 6,067,868 (GRCm39) I551F probably damaging Het
Tiam2 A T 17: 3,489,971 (GRCm39) probably benign Het
Tmem132b T C 5: 125,864,639 (GRCm39) F915S probably damaging Het
Try5 C A 6: 41,288,342 (GRCm39) V204L probably benign Het
Vmn2r6 T C 3: 64,463,749 (GRCm39) T362A probably benign Het
Other mutations in Asph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Asph APN 4 9,639,322 (GRCm39) missense probably damaging 1.00
IGL00928:Asph APN 4 9,594,675 (GRCm39) missense probably benign 0.07
IGL01022:Asph APN 4 9,601,344 (GRCm39) missense possibly damaging 0.63
IGL01677:Asph APN 4 9,607,853 (GRCm39) missense probably damaging 1.00
IGL01907:Asph APN 4 9,514,643 (GRCm39) missense possibly damaging 0.59
IGL01958:Asph APN 4 9,474,904 (GRCm39) missense possibly damaging 0.93
IGL01976:Asph APN 4 9,475,471 (GRCm39) missense probably damaging 0.98
IGL01989:Asph APN 4 9,602,462 (GRCm39) splice site probably benign
IGL02379:Asph APN 4 9,474,980 (GRCm39) missense probably damaging 1.00
IGL02444:Asph APN 4 9,542,319 (GRCm39) splice site probably benign
IGL02679:Asph APN 4 9,601,349 (GRCm39) missense possibly damaging 0.63
IGL02735:Asph APN 4 9,598,759 (GRCm39) missense probably damaging 1.00
IGL02875:Asph APN 4 9,595,380 (GRCm39) missense probably damaging 1.00
IGL03022:Asph APN 4 9,517,668 (GRCm39) missense possibly damaging 0.48
R0026:Asph UTSW 4 9,601,361 (GRCm39) missense probably damaging 0.97
R0121:Asph UTSW 4 9,635,918 (GRCm39) missense probably damaging 1.00
R0357:Asph UTSW 4 9,453,314 (GRCm39) missense probably benign 0.01
R0410:Asph UTSW 4 9,595,415 (GRCm39) missense probably damaging 1.00
R0554:Asph UTSW 4 9,604,581 (GRCm39) missense probably damaging 0.99
R0577:Asph UTSW 4 9,604,620 (GRCm39) missense probably benign 0.02
R0718:Asph UTSW 4 9,514,683 (GRCm39) splice site probably benign
R0725:Asph UTSW 4 9,542,275 (GRCm39) missense probably damaging 1.00
R1383:Asph UTSW 4 9,537,807 (GRCm39) splice site probably null
R1654:Asph UTSW 4 9,453,315 (GRCm39) missense probably benign 0.31
R1694:Asph UTSW 4 9,610,869 (GRCm39) missense probably damaging 0.99
R1771:Asph UTSW 4 9,598,773 (GRCm39) missense probably damaging 0.99
R1776:Asph UTSW 4 9,598,773 (GRCm39) missense probably damaging 0.99
R1840:Asph UTSW 4 9,601,340 (GRCm39) missense possibly damaging 0.60
R1911:Asph UTSW 4 9,453,335 (GRCm39) missense probably damaging 1.00
R1912:Asph UTSW 4 9,453,335 (GRCm39) missense probably damaging 1.00
R2117:Asph UTSW 4 9,517,671 (GRCm39) nonsense probably null
R2860:Asph UTSW 4 9,598,277 (GRCm39) missense probably damaging 1.00
R2861:Asph UTSW 4 9,598,277 (GRCm39) missense probably damaging 1.00
R2937:Asph UTSW 4 9,542,314 (GRCm39) splice site probably benign
R3907:Asph UTSW 4 9,474,934 (GRCm39) missense probably benign 0.23
R4154:Asph UTSW 4 9,639,250 (GRCm39) nonsense probably null
R4623:Asph UTSW 4 9,622,005 (GRCm39) missense possibly damaging 0.50
R4871:Asph UTSW 4 9,531,968 (GRCm39) missense probably benign 0.02
R5196:Asph UTSW 4 9,607,830 (GRCm39) missense probably damaging 0.99
R5540:Asph UTSW 4 9,635,906 (GRCm39) missense probably damaging 1.00
R5757:Asph UTSW 4 9,637,722 (GRCm39) splice site probably null
R6063:Asph UTSW 4 9,531,960 (GRCm39) missense probably benign 0.05
R6072:Asph UTSW 4 9,643,533 (GRCm39) critical splice donor site probably null
R7016:Asph UTSW 4 9,630,604 (GRCm39) splice site probably null
R7133:Asph UTSW 4 9,484,575 (GRCm39) missense probably benign 0.01
R7154:Asph UTSW 4 9,630,930 (GRCm39) missense possibly damaging 0.85
R7201:Asph UTSW 4 9,474,917 (GRCm39) missense probably damaging 1.00
R7316:Asph UTSW 4 9,537,746 (GRCm39) missense probably benign 0.11
R7455:Asph UTSW 4 9,531,732 (GRCm39) splice site probably null
R7516:Asph UTSW 4 9,630,940 (GRCm39) missense possibly damaging 0.92
R7517:Asph UTSW 4 9,517,697 (GRCm39) missense probably damaging 1.00
R7736:Asph UTSW 4 9,621,930 (GRCm39) missense possibly damaging 0.81
R7818:Asph UTSW 4 9,475,015 (GRCm39) missense probably damaging 1.00
R8356:Asph UTSW 4 9,537,722 (GRCm39) missense probably benign 0.04
R8456:Asph UTSW 4 9,537,722 (GRCm39) missense probably benign 0.04
R8768:Asph UTSW 4 9,453,417 (GRCm39) missense probably damaging 1.00
R8856:Asph UTSW 4 9,630,947 (GRCm39) missense possibly damaging 0.71
R9024:Asph UTSW 4 9,475,025 (GRCm39) missense probably damaging 1.00
R9125:Asph UTSW 4 9,474,928 (GRCm39) missense possibly damaging 0.58
R9390:Asph UTSW 4 9,635,927 (GRCm39) missense probably damaging 1.00
R9708:Asph UTSW 4 9,542,233 (GRCm39) missense probably damaging 1.00
Z1088:Asph UTSW 4 9,630,715 (GRCm39) missense possibly damaging 0.96
Posted On 2015-04-16