Incidental Mutation 'R4154:Asph'
ID 315033
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 040998-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4154 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 9449085-9669344 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 9639250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 38 (W38*)
Ref Sequence ENSEMBL: ENSMUSP00000116874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038564] [ENSMUST00000078139] [ENSMUST00000084912] [ENSMUST00000084915] [ENSMUST00000098275] [ENSMUST00000103004] [ENSMUST00000108333] [ENSMUST00000131605] [ENSMUST00000108334] [ENSMUST00000108335] [ENSMUST00000108337] [ENSMUST00000108339] [ENSMUST00000108340] [ENSMUST00000146441] [ENSMUST00000152526]
AlphaFold Q8BSY0
Predicted Effect probably null
Transcript: ENSMUST00000038564
AA Change: W76*
SMART Domains Protein: ENSMUSP00000049018
Gene: ENSMUSG00000028207
AA Change: W76*

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Asp-B-Hydro_N 52 244 1.6e-58 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000078139
AA Change: W76*
SMART Domains Protein: ENSMUSP00000077273
Gene: ENSMUSG00000028207
AA Change: W76*

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 null
Transcript: ENSMUST00000084912
AA Change: W76*
SMART Domains Protein: ENSMUSP00000081975
Gene: ENSMUSG00000028207
AA Change: W76*

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Asp-B-Hydro_N 52 163 1.5e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000084915
AA Change: W76*
SMART Domains Protein: ENSMUSP00000081978
Gene: ENSMUSG00000028207
AA Change: W76*

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Asp-B-Hydro_N 52 307 6.2e-105 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000098275
AA Change: W76*
SMART Domains Protein: ENSMUSP00000095876
Gene: ENSMUSG00000028207
AA Change: W76*

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Asp-B-Hydro_N 52 188 5.6e-54 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000103004
AA Change: W38*
SMART Domains Protein: ENSMUSP00000100069
Gene: ENSMUSG00000028207
AA Change: W38*

DomainStartEndE-ValueType
Pfam:Asp-B-Hydro_N 14 81 5.2e-49 PFAM
Pfam:Asp-B-Hydro_N 78 206 1.1e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108333
AA Change: W38*
SMART Domains Protein: ENSMUSP00000103970
Gene: ENSMUSG00000028207
AA Change: W38*

DomainStartEndE-ValueType
Pfam:Asp-B-Hydro_N 14 128 5.8e-59 PFAM
Pfam:Asp-B-Hydro_N 121 258 8.8e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137375
Predicted Effect probably null
Transcript: ENSMUST00000131605
AA Change: W9*
SMART Domains Protein: ENSMUSP00000118518
Gene: ENSMUSG00000028207
AA Change: W9*

DomainStartEndE-ValueType
Pfam:Asp-B-Hydro_N 1 73 2.7e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108334
AA Change: W38*
SMART Domains Protein: ENSMUSP00000103971
Gene: ENSMUSG00000028207
AA Change: W38*

DomainStartEndE-ValueType
Pfam:Asp-B-Hydro_N 14 269 3.8e-105 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108335
AA Change: W38*
SMART Domains Protein: ENSMUSP00000103972
Gene: ENSMUSG00000028207
AA Change: W38*

DomainStartEndE-ValueType
Pfam:Asp-B-Hydro_N 14 84 1.6e-49 PFAM
Pfam:Asp-B-Hydro_N 79 212 1.6e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108337
AA Change: W76*
SMART Domains Protein: ENSMUSP00000103974
Gene: ENSMUSG00000028207
AA Change: W76*

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Asp-B-Hydro_N 52 291 1.8e-96 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108339
AA Change: W9*
SMART Domains Protein: ENSMUSP00000103976
Gene: ENSMUSG00000028207
AA Change: W9*

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 null
Transcript: ENSMUST00000108340
AA Change: W76*
SMART Domains Protein: ENSMUSP00000103977
Gene: ENSMUSG00000028207
AA Change: W76*

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
Predicted Effect probably null
Transcript: ENSMUST00000146441
AA Change: W76*
SMART Domains Protein: ENSMUSP00000116899
Gene: ENSMUSG00000028207
AA Change: W76*

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Asp-B-Hydro_N 52 203 1.2e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152058
Predicted Effect probably null
Transcript: ENSMUST00000152526
AA Change: W38*
SMART Domains Protein: ENSMUSP00000116874
Gene: ENSMUSG00000028207
AA Change: W38*

DomainStartEndE-ValueType
Pfam:Asp-B-Hydro_N 14 149 8.2e-70 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (51/52)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI593442 A T 9: 52,589,204 (GRCm39) H124Q probably benign Het
Bicdl2 A G 17: 23,885,066 (GRCm39) probably null Het
Chd8 T C 14: 52,444,668 (GRCm39) probably benign Het
Clcn4 T C 7: 7,297,833 (GRCm39) N67D probably benign Het
Cptp A G 4: 155,951,657 (GRCm39) V12A possibly damaging Het
Crim1 A G 17: 78,545,272 (GRCm39) I145V probably benign Het
Ctsc G A 7: 87,948,755 (GRCm39) M195I probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Fas T G 19: 34,296,228 (GRCm39) I180S possibly damaging Het
Fsip2 A C 2: 82,817,413 (GRCm39) E4382A possibly damaging Het
Galnt5 T G 2: 57,888,505 (GRCm39) L35R probably damaging Het
Gfpt2 G A 11: 49,726,605 (GRCm39) probably null Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
Gm14496 A T 2: 181,636,872 (GRCm39) H110L probably benign Het
Golm1 A G 13: 59,790,167 (GRCm39) V211A probably benign Het
Gsc2 TGCAGCAGCAGCAGCAG TGCAGCAGCAGCAG 16: 17,732,666 (GRCm39) probably benign Het
Ighv1-72 A T 12: 115,722,017 (GRCm39) M7K probably benign Het
Igkv12-44 C T 6: 69,791,639 (GRCm39) C108Y possibly damaging Het
Lum T C 10: 97,404,815 (GRCm39) S237P probably damaging Het
Macf1 T C 4: 123,365,606 (GRCm39) K3052E probably damaging Het
Mdn1 A G 4: 32,707,475 (GRCm39) E1588G probably damaging Het
Ndst3 T C 3: 123,465,876 (GRCm39) Y32C probably damaging Het
Nucb2 A G 7: 116,126,902 (GRCm39) T172A probably benign Het
Or52b1 T C 7: 104,978,592 (GRCm39) N269S probably damaging Het
Pard3 G T 8: 128,200,877 (GRCm39) R978L probably damaging Het
Pcdha4 A G 18: 37,086,639 (GRCm39) probably null Het
Pgk2 A G 17: 40,519,149 (GRCm39) V93A probably damaging Het
Pik3c3 G A 18: 30,444,336 (GRCm39) M516I probably benign Het
Plxnb2 A G 15: 89,043,845 (GRCm39) F1336L probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sipa1l1 G C 12: 82,471,988 (GRCm39) G1323R possibly damaging Het
Sntg1 A T 1: 8,653,569 (GRCm39) probably null Het
Spef2 T C 15: 9,626,107 (GRCm39) K1153R probably benign Het
Strn3 C T 12: 51,673,914 (GRCm39) V566M probably damaging Het
Svep1 A G 4: 58,069,068 (GRCm39) F2906S possibly damaging Het
Tbc1d8 C T 1: 39,425,216 (GRCm39) V545M probably damaging Het
Tmem131 T C 1: 36,847,874 (GRCm39) probably benign Het
Tnfsf8 A G 4: 63,752,595 (GRCm39) S157P probably benign Het
Tubgcp5 G A 7: 55,455,077 (GRCm39) V258M probably benign Het
Vat1l G C 8: 114,932,543 (GRCm39) G30R possibly damaging Het
Vegfb T C 19: 6,963,446 (GRCm39) Y106C probably damaging Het
Vmn2r100 AAAACAGGAGTATTGATTGGAAAC AAAAC 17: 19,743,681 (GRCm39) probably null Het
Zc3h15 T C 2: 83,488,913 (GRCm39) V161A 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
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
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
Predicted Primers PCR Primer
(F):5'- GATTCAGGTCACTACTCTGGG -3'
(R):5'- AAGCTTCTCGTGTTCAGAGTC -3'

Sequencing Primer
(F):5'- TACTCTGGGGCAGCCCTTTG -3'
(R):5'- CAGAGTCATTAATTTATGGAGTGCAC -3'
Posted On 2015-05-14