Mutagenetix > Incidental Mutation

Incidental Mutation 'R2117:Asph'

231042

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

040121-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2117 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9449085-9669344 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 9517671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 468 (Q468*)

Ref Sequence

ENSEMBL: ENSMUSP00000103977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078139] [ENSMUST00000108339] [ENSMUST00000108340]

AlphaFold

Q8BSY0

Predicted Effect

probably null
Transcript: ENSMUST00000078139
AA Change: Q484*

SMART Domains

Protein: ENSMUSP00000077273
Gene: ENSMUSG00000028207
AA Change: Q484*

Domain	Start	End	E-Value	Type
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: ENSMUST00000108339
AA Change: Q401*

SMART Domains

Protein: ENSMUSP00000103976
Gene: ENSMUSG00000028207
AA Change: Q401*

Domain	Start	End	E-Value	Type
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: Q468*

SMART Domains

Protein: ENSMUSP00000103977
Gene: ENSMUSG00000028207
AA Change: Q468*

Domain	Start	End	E-Value	Type
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

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,640,656 (GRCm39)	C3357S	probably benign	Het
Ago1	T	A	4: 126,357,650 (GRCm39)		probably null	Het
Akap10	A	T	11: 61,781,129 (GRCm39)	D562E	possibly damaging	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Ankle1	A	G	8: 71,860,562 (GRCm39)	T340A	probably benign	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Bcam	G	T	7: 19,492,352 (GRCm39)	A581E	possibly damaging	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Ccr6	T	C	17: 8,474,914 (GRCm39)	F40L	possibly damaging	Het
Cfap161	A	T	7: 83,425,184 (GRCm39)	N302K	possibly damaging	Het
Ckmt2	T	A	13: 92,003,964 (GRCm39)	I345F	probably benign	Het
Cpsf6	A	G	10: 117,202,025 (GRCm39)		probably benign	Het
Ctnna1	A	G	18: 35,285,678 (GRCm39)	N8S	possibly damaging	Het
Cyp2d11	A	G	15: 82,275,954 (GRCm39)	L209P	probably damaging	Het
Dab2	T	C	15: 6,465,096 (GRCm39)	V628A	probably damaging	Het
Dcstamp	C	T	15: 39,618,571 (GRCm39)	Q327*	probably null	Het
Defb38	A	T	8: 19,073,483 (GRCm39)	Y63*	probably null	Het
Dlg5	A	T	14: 24,227,826 (GRCm39)	L365*	probably null	Het
Dnai7	C	T	6: 145,150,967 (GRCm39)		probably null	Het
Dnmt3l	C	A	10: 77,899,130 (GRCm39)	L110I	probably damaging	Het
Exoc3l2	G	T	7: 19,228,907 (GRCm39)	L108F	possibly damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
Fam83h	C	A	15: 75,876,582 (GRCm39)	E252*	probably null	Het
Fancm	A	G	12: 65,123,948 (GRCm39)	D202G	probably damaging	Het
Fat1	T	A	8: 45,490,500 (GRCm39)	V3804E	probably benign	Het
Fbxw28	T	C	9: 109,159,985 (GRCm39)	T190A	probably benign	Het
Fer1l4	T	C	2: 155,881,038 (GRCm39)	T843A	probably benign	Het
Fnip1	A	T	11: 54,391,450 (GRCm39)	H461L	probably damaging	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gemin4	A	G	11: 76,101,827 (GRCm39)	V978A	possibly damaging	Het
Gm7247	A	T	14: 51,602,792 (GRCm39)	I43F	probably damaging	Het
Gm9978	C	T	10: 78,322,731 (GRCm39)		noncoding transcript	Het
Gpr4	T	C	7: 18,957,070 (GRCm39)	S331P	probably damaging	Het
Hspa1a	T	A	17: 35,189,455 (GRCm39)	N483Y	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lamb3	A	G	1: 193,016,489 (GRCm39)	R657G	probably benign	Het
Ldc1	C	A	4: 130,109,156 (GRCm39)	V295L	possibly damaging	Het
Lrp2	A	C	2: 69,313,729 (GRCm39)	V2334G	probably benign	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Map3k21	A	T	8: 126,650,781 (GRCm39)	H261L	probably benign	Het
Meis1	G	T	11: 18,831,679 (GRCm39)	P453Q	probably damaging	Het
Mettl16	G	T	11: 74,693,755 (GRCm39)	M255I	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mta2	T	C	19: 8,920,880 (GRCm39)	I27T	probably damaging	Het
Nav2	A	G	7: 49,114,328 (GRCm39)	I771V	probably benign	Het
Nisch	A	T	14: 30,899,242 (GRCm39)		probably benign	Het
Npc1	G	A	18: 12,329,613 (GRCm39)	P990L	probably damaging	Het
Nrxn1	A	T	17: 91,011,705 (GRCm39)	I308K	probably damaging	Het
Or13l2	C	A	3: 97,317,765 (GRCm39)	C244F	probably damaging	Het
Or1ad6	A	T	11: 50,860,147 (GRCm39)	I101F	probably damaging	Het
Or5h17	T	C	16: 58,820,783 (GRCm39)	L245P	possibly damaging	Het
Otogl	T	C	10: 107,694,779 (GRCm39)	D823G	probably benign	Het
P2rx7	A	G	5: 122,819,329 (GRCm39)	T584A	probably benign	Het
Pals1	T	C	12: 78,856,696 (GRCm39)	F180L	possibly damaging	Het
Pank1	T	A	19: 34,818,486 (GRCm39)	I18F	probably damaging	Het
Pgap3	A	G	11: 98,281,933 (GRCm39)	L126P	probably damaging	Het
Pgap6	C	T	17: 26,336,858 (GRCm39)	L259F	possibly damaging	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pkd2	G	A	5: 104,631,042 (GRCm39)	E489K	probably damaging	Het
Prdm16	T	A	4: 154,432,382 (GRCm39)	S296C	probably null	Het
Prex2	T	A	1: 11,256,937 (GRCm39)	N1216K	probably damaging	Het
Prmt7	A	G	8: 106,953,930 (GRCm39)	T124A	probably damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rap2b	G	T	3: 61,272,512 (GRCm39)	G12V	probably damaging	Het
Rapgef5	T	A	12: 117,677,799 (GRCm39)		probably null	Het
Rassf4	A	G	6: 116,622,088 (GRCm39)	F168S	possibly damaging	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Sacs	A	G	14: 61,451,220 (GRCm39)	K4422R	probably benign	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Sema3d	C	T	5: 12,613,240 (GRCm39)	T439I	probably benign	Het
Sephs1	A	G	2: 4,904,351 (GRCm39)	N243S	probably benign	Het
Setd2	TTGGGA	T	9: 110,433,212 (GRCm39)		probably null	Het
Setx	A	G	2: 29,020,313 (GRCm39)	D100G	probably benign	Het
Slc22a7	C	A	17: 46,744,898 (GRCm39)	V383L	possibly damaging	Het
Slc25a40	T	C	5: 8,480,417 (GRCm39)	C56R	probably damaging	Het
Stk38l	T	A	6: 146,670,344 (GRCm39)	L229I	probably damaging	Het
Sult2a5	T	C	7: 13,359,359 (GRCm39)	S112P	probably damaging	Het
Syt4	A	G	18: 31,573,520 (GRCm39)	Y332H	probably damaging	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tenm2	A	G	11: 35,915,681 (GRCm39)	L1951P	probably damaging	Het
Tlr9	A	G	9: 106,102,536 (GRCm39)	N609S	probably damaging	Het
Tmem120a	A	T	5: 135,764,977 (GRCm39)	S266T	possibly damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Tnfrsf18	T	A	4: 156,112,973 (GRCm39)	V196E	probably damaging	Het
Trpc1	A	T	9: 95,599,637 (GRCm39)	L474H	probably damaging	Het
Trpm6	T	C	19: 18,807,316 (GRCm39)	V1020A	probably damaging	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Usp47	T	A	7: 111,666,443 (GRCm39)		probably null	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Vmn1r26	T	C	6: 57,985,335 (GRCm39)	N285D	possibly damaging	Het
Zfp445	T	A	9: 122,682,502 (GRCm39)	K480*	probably null	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het
Zfp821	A	G	8: 110,447,851 (GRCm39)	E64G	probably damaging	Het
Zfp994	T	A	17: 22,419,962 (GRCm39)	D329V	probably damaging	Het
Zkscan8	T	C	13: 21,704,488 (GRCm39)	S484G	probably damaging	Het

Other mutations in Asph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- ACTGCCTGAGATACATGCACTC -3'
(R):5'- CGTTTAATGGTAGCGGTGAGAC -3'

Sequencing Primer
(F):5'- CCTGAGATACATGCACTCTGAGG -3'
(R):5'- CCCACAGTGTTTGAAGCTGTAAC -3'

Posted On

2014-09-18