Incidental Mutation 'R6072:Asph'
ID 482529
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6072 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 9449085-9669344 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 9643533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038564] [ENSMUST00000078139] [ENSMUST00000084912] [ENSMUST00000084915] [ENSMUST00000098275] [ENSMUST00000103004] [ENSMUST00000108333] [ENSMUST00000108333] [ENSMUST00000108335] [ENSMUST00000108335] [ENSMUST00000108334] [ENSMUST00000108334] [ENSMUST00000152526] [ENSMUST00000108339] [ENSMUST00000131605] [ENSMUST00000108340] [ENSMUST00000108337] [ENSMUST00000146441]
AlphaFold Q8BSY0
Predicted Effect probably benign
Transcript: ENSMUST00000038564
SMART Domains Protein: ENSMUSP00000049018
Gene: ENSMUSG00000028207

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

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: ENSMUST00000084912
SMART Domains Protein: ENSMUSP00000081975
Gene: ENSMUSG00000028207

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

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

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
SMART Domains Protein: ENSMUSP00000100069
Gene: ENSMUSG00000028207

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
SMART Domains Protein: ENSMUSP00000103970
Gene: ENSMUSG00000028207

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 probably null
Transcript: ENSMUST00000108333
SMART Domains Protein: ENSMUSP00000103970
Gene: ENSMUSG00000028207

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 probably null
Transcript: ENSMUST00000108335
SMART Domains Protein: ENSMUSP00000103972
Gene: ENSMUSG00000028207

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: ENSMUST00000108335
SMART Domains Protein: ENSMUSP00000103972
Gene: ENSMUSG00000028207

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: ENSMUST00000108334
SMART Domains Protein: ENSMUSP00000103971
Gene: ENSMUSG00000028207

DomainStartEndE-ValueType
Pfam:Asp-B-Hydro_N 14 269 3.8e-105 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108334
SMART Domains Protein: ENSMUSP00000103971
Gene: ENSMUSG00000028207

DomainStartEndE-ValueType
Pfam:Asp-B-Hydro_N 14 269 3.8e-105 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000152526
SMART Domains Protein: ENSMUSP00000116874
Gene: ENSMUSG00000028207

DomainStartEndE-ValueType
Pfam:Asp-B-Hydro_N 14 149 8.2e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152058
Predicted Effect probably benign
Transcript: ENSMUST00000108339
SMART Domains Protein: ENSMUSP00000103976
Gene: ENSMUSG00000028207

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: ENSMUST00000131605
SMART Domains Protein: ENSMUSP00000118518
Gene: ENSMUSG00000028207

DomainStartEndE-ValueType
Pfam:Asp-B-Hydro_N 1 73 2.7e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108340
SMART Domains Protein: ENSMUSP00000103977
Gene: ENSMUSG00000028207

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 benign
Transcript: ENSMUST00000108337
SMART Domains Protein: ENSMUSP00000103974
Gene: ENSMUSG00000028207

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Asp-B-Hydro_N 52 291 1.8e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146441
SMART Domains Protein: ENSMUSP00000116899
Gene: ENSMUSG00000028207

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Asp-B-Hydro_N 52 203 1.2e-51 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,467,357 (GRCm39) M92K probably benign Het
Abca15 T A 7: 119,987,481 (GRCm39) C1256S probably damaging Het
Asic2 A G 11: 80,784,914 (GRCm39) S291P probably damaging Het
Ccdc57 T A 11: 120,792,901 (GRCm39) K284N probably damaging Het
Cfap210 A T 2: 69,602,402 (GRCm39) D336E probably benign Het
Dnm3 CAGCCTTCGTTGGGTG C 1: 161,838,637 (GRCm39) probably benign Het
Dop1a G A 9: 86,389,750 (GRCm39) S558N probably benign Het
F830045P16Rik T A 2: 129,314,614 (GRCm39) Q221L probably damaging Het
Gm10146 A G 10: 78,229,332 (GRCm39) noncoding transcript Het
Gys2 T G 6: 142,374,263 (GRCm39) D594A probably damaging Het
Irf9 A G 14: 55,843,284 (GRCm39) E114G probably damaging Het
Itpr2 T G 6: 146,248,609 (GRCm39) K1082T probably damaging Het
Krt14 C T 11: 100,097,992 (GRCm39) G97D unknown Het
Lmo7 A T 14: 102,166,772 (GRCm39) probably benign Het
Nckap5l A T 15: 99,324,535 (GRCm39) L656Q probably damaging Het
Ndufs8 T C 19: 3,959,275 (GRCm39) T129A probably damaging Het
Nosip G A 7: 44,726,072 (GRCm39) V187M possibly damaging Het
Or4l1 A T 14: 50,166,606 (GRCm39) Y132N probably damaging Het
Or7g18 G A 9: 18,786,718 (GRCm39) V29I probably benign Het
Phf3 A C 1: 30,869,769 (GRCm39) N426K probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Pphln1-ps1 T C 16: 13,495,353 (GRCm39) S151P probably damaging Het
Ptpru A G 4: 131,503,539 (GRCm39) S1164P probably damaging Het
Rcan1 T C 16: 92,262,815 (GRCm39) D51G probably benign Het
Rem1 A G 2: 152,476,437 (GRCm39) T232A probably benign Het
Slc1a3 T A 15: 8,738,052 (GRCm39) I59F probably damaging Het
Slc23a4 T C 6: 34,925,357 (GRCm39) K491E probably benign Het
Slc6a5 T A 7: 49,561,943 (GRCm39) D158E probably damaging Het
Smarca4 A G 9: 21,611,417 (GRCm39) N1510S probably damaging Het
Taf1d T C 9: 15,222,856 (GRCm39) S241P probably benign Het
Thada T C 17: 84,499,434 (GRCm39) D1921G possibly damaging Het
Tmem147 A T 7: 30,427,445 (GRCm39) M99K possibly damaging Het
Tulp1 T C 17: 28,582,758 (GRCm39) E130G possibly damaging Het
Tyw1 T C 5: 130,296,752 (GRCm39) V123A possibly damaging Het
Wdr75 T C 1: 45,838,211 (GRCm39) V40A probably damaging Het
Zfp683 T C 4: 133,783,057 (GRCm39) Y174H 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
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
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'- ATGAAAACCCAGCCACTGTG -3'
(R):5'- TCAGGAGTGCAGTCTGTCTG -3'

Sequencing Primer
(F):5'- AGCCACTGTGAATACTCGATCTC -3'
(R):5'- ATTAGCAGCATGTGGCCAC -3'
Posted On 2017-07-14