Incidental Mutation 'R7316:Asph'
ID 567946
Institutional Source Beutler Lab
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
MMRRC Submission 045413-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7316 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 9449085-9669344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9537746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 344 (V344A)
Ref Sequence ENSEMBL: ENSMUSP00000077273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078139] [ENSMUST00000108339] [ENSMUST00000108340]
AlphaFold Q8BSY0
Predicted Effect probably benign
Transcript: ENSMUST00000078139
AA Change: V344A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000077273
Gene: ENSMUSG00000028207
AA Change: V344A

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: V261A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103976
Gene: ENSMUSG00000028207
AA Change: V261A

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: V328A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000103977
Gene: ENSMUSG00000028207
AA Change: V328A

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
Meta Mutation Damage Score 0.0991 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (93/94)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 89,969,020 (GRCm39) M214I probably benign Het
Aadat G T 8: 60,979,668 (GRCm39) G177C probably damaging Het
Adam4 T C 12: 81,466,498 (GRCm39) I708V probably benign Het
Aip T C 19: 4,164,793 (GRCm39) N264S probably benign Het
Alox8 A T 11: 69,077,064 (GRCm39) D505E probably benign Het
Ap3d1 A T 10: 80,553,693 (GRCm39) I518N probably damaging Het
Arf3 G A 15: 98,638,874 (GRCm39) Q128* probably null Het
Birc6 A T 17: 74,911,489 (GRCm39) R1500S probably damaging Het
Bptf G A 11: 106,963,935 (GRCm39) T1753I probably damaging Het
Bptf A T 11: 107,001,740 (GRCm39) C457* probably null Het
Brpf3 T A 17: 29,033,660 (GRCm39) I568N probably damaging Het
Btnl4 G C 17: 34,688,031 (GRCm39) N582K probably benign Het
Camsap3 C A 8: 3,654,648 (GRCm39) P773T possibly damaging Het
Capsl A T 15: 9,461,888 (GRCm39) I95L probably benign Het
Cd96 T A 16: 45,890,016 (GRCm39) M336L probably benign Het
Cdan1 A T 2: 120,558,813 (GRCm39) probably null Het
Chd3 A T 11: 69,236,394 (GRCm39) L1939Q probably damaging Het
Cngb3 A T 4: 19,425,599 (GRCm39) Y469F probably benign Het
Cp T C 3: 20,026,916 (GRCm39) L448P probably damaging Het
Csnk1g2 T C 10: 80,475,687 (GRCm39) V418A possibly damaging Het
Dag1 A T 9: 108,086,701 (GRCm39) S147T probably benign Het
Dnajc25 T A 4: 59,017,693 (GRCm39) Y117* probably null Het
Dpysl2 A T 14: 67,100,044 (GRCm39) M64K possibly damaging Het
Dus3l A G 17: 57,072,551 (GRCm39) H38R possibly damaging Het
Eme2 G A 17: 25,113,840 (GRCm39) R62W probably damaging Het
Enox1 A T 14: 77,958,298 (GRCm39) M616L probably benign Het
Epb41l4b T A 4: 57,019,867 (GRCm39) T708S probably benign Het
Fat2 A T 11: 55,176,893 (GRCm39) I1534N probably damaging Het
Fer1l5 A G 1: 36,457,197 (GRCm39) T1649A probably benign Het
Fmo9 A G 1: 166,491,215 (GRCm39) V421A probably benign Het
Fsip2 A C 2: 82,820,035 (GRCm39) Y5256S possibly damaging Het
Gapvd1 G A 2: 34,594,681 (GRCm39) L804F probably damaging Het
Garin1a A G 6: 29,286,101 (GRCm39) M187V probably benign Het
Gen1 A G 12: 11,291,470 (GRCm39) V838A probably benign Het
Gnptab A T 10: 88,236,572 (GRCm39) N59I probably damaging Het
Grm5 A G 7: 87,624,473 (GRCm39) T347A probably benign Het
Gsdmc3 T C 15: 63,730,251 (GRCm39) N438D possibly damaging Het
Hmcn1 A G 1: 150,608,697 (GRCm39) L1495S probably damaging Het
Ift70a1 A T 2: 75,811,201 (GRCm39) L294Q probably damaging Het
Islr2 T C 9: 58,105,250 (GRCm39) E714G probably damaging Het
Larp4 A T 15: 99,898,898 (GRCm39) M430L probably benign Het
Lpcat2b A G 5: 107,580,979 (GRCm39) I103V not run Het
Lrguk C T 6: 34,080,191 (GRCm39) S1142F unknown Het
Lrit2 G T 14: 36,790,815 (GRCm39) V165F probably damaging Het
Mast3 T A 8: 71,232,432 (GRCm39) I1182F probably damaging Het
Mcm6 C T 1: 128,287,245 (GRCm39) D20N probably damaging Het
Mief1 A G 15: 80,133,598 (GRCm39) I218M probably damaging Het
Mmp2 A G 8: 93,567,038 (GRCm39) T453A probably benign Het
Ms4a18 T A 19: 10,979,360 (GRCm39) S219C probably damaging Het
Myo5c A T 9: 75,176,920 (GRCm39) T622S probably benign Het
Neb A T 2: 52,161,450 (GRCm39) M2114K possibly damaging Het
Nemp1 T A 10: 127,525,212 (GRCm39) L122* probably null Het
Nkx2-1 T C 12: 56,581,583 (GRCm39) N88S probably benign Het
Nr2c2 T A 6: 92,131,444 (GRCm39) C202S probably damaging Het
Ntsr1 A C 2: 180,142,545 (GRCm39) D112A probably damaging Het
Or14j3 A G 17: 37,901,026 (GRCm39) S73P probably damaging Het
Or56a41 A T 7: 104,740,107 (GRCm39) H246Q probably damaging Het
Or6n2 A T 1: 173,897,727 (GRCm39) I288F probably benign Het
Osbp2 C A 11: 3,676,431 (GRCm39) R73L probably damaging Het
Pbp2 T A 6: 135,286,830 (GRCm39) E172D probably damaging Het
Pcdhgc3 T C 18: 37,941,501 (GRCm39) I634T probably benign Het
Pcnx1 T C 12: 82,042,323 (GRCm39) S38P probably benign Het
Phyh A T 2: 4,940,855 (GRCm39) K252* probably null Het
Plcb3 C T 19: 6,943,753 (GRCm39) probably null Het
Ppargc1b T C 18: 61,440,909 (GRCm39) S670G probably damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Ptprc T C 1: 137,992,509 (GRCm39) Y1067C probably damaging Het
Pwwp2b A C 7: 138,836,140 (GRCm39) E527A probably benign Het
Pzp T C 6: 128,490,736 (GRCm39) D409G probably damaging Het
Rbfox2 A T 15: 77,016,929 (GRCm39) N148K possibly damaging Het
Resf1 T C 6: 149,228,136 (GRCm39) L394P probably damaging Het
Rps24 T C 14: 24,540,757 (GRCm39) probably benign Het
Slc35e4 T C 11: 3,862,584 (GRCm39) K202E probably damaging Het
Spata7 C T 12: 98,624,871 (GRCm39) R258W probably damaging Het
Spen A T 4: 141,204,365 (GRCm39) S1421T unknown Het
Svep1 T A 4: 58,068,763 (GRCm39) I3008F possibly damaging Het
Tbc1d1 G T 5: 64,492,620 (GRCm39) probably null Het
Thsd4 T A 9: 59,894,642 (GRCm39) H772L probably benign Het
Tle1 T C 4: 72,036,529 (GRCm39) I769V probably benign Het
Tm4sf19 T A 16: 32,226,466 (GRCm39) S127T possibly damaging Het
Tmprss9 C A 10: 80,730,813 (GRCm39) R780S probably benign Het
Tpp2 T C 1: 44,009,591 (GRCm39) V475A probably benign Het
Ttn A G 2: 76,692,509 (GRCm39) V471A Het
Ttn A T 2: 76,597,257 (GRCm39) N19885K probably damaging Het
Tub A T 7: 108,629,378 (GRCm39) T478S possibly damaging Het
Ube2q2l T C 6: 136,378,276 (GRCm39) K185E possibly damaging Het
Vmn2r88 A T 14: 51,651,712 (GRCm39) Y342F Het
Wdr18 C A 10: 79,801,059 (GRCm39) D157E probably benign Het
Xrra1 A T 7: 99,525,423 (GRCm39) probably null Het
Zc3h4 G C 7: 16,169,260 (GRCm39) G1198A unknown Het
Zfp568 A T 7: 29,721,681 (GRCm39) I209F possibly damaging Het
Zfp787 C A 7: 6,158,523 (GRCm39) probably benign Het
Zfp974 A T 7: 27,609,863 (GRCm39) Y621N possibly damaging Het
Zyg11b A G 4: 108,107,699 (GRCm39) I493T possibly damaging 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
IGL02652:Asph APN 4 9,529,984 (GRCm39) missense probably benign 0.11
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
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
Predicted Primers PCR Primer
(F):5'- TTAGCACACAGTATTGAAAACAGCC -3'
(R):5'- TGCTACTTAACATTGCTTGGGG -3'

Sequencing Primer
(F):5'- CAATTCTGGGGGTGTATGTATATAAC -3'
(R):5'- CTACTTAACATTGCTTGGGGTTTTTG -3'
Posted On 2019-06-26