Mutagenetix > Incidental Mutation

Incidental Mutation 'R0718:Asph'

63683

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

038900-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0718 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

9449085-9669344 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 9514683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103977 (fasta)

Gene Model

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

AlphaFold

Q8BSY0

Predicted Effect

probably benign
Transcript: ENSMUST00000078139

SMART Domains

Protein: ENSMUSP00000077273
Gene: ENSMUSG00000028207

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 benign
Transcript: ENSMUST00000108339

SMART Domains

Protein: ENSMUSP00000103976
Gene: ENSMUSG00000028207

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 benign
Transcript: ENSMUST00000108340

SMART Domains

Protein: ENSMUSP00000103977
Gene: ENSMUSG00000028207

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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (96/96)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	T	3: 95,586,918 (GRCm39)	Y811N	possibly damaging	Het
Adrm1	T	C	2: 179,816,940 (GRCm39)		probably benign	Het
Alms1	T	A	6: 85,598,803 (GRCm39)	S1210T	probably benign	Het
Ampd3	C	T	7: 110,377,015 (GRCm39)	P11L	probably damaging	Het
Arhgap5	A	G	12: 52,563,290 (GRCm39)	E87G	possibly damaging	Het
Armc5	C	T	7: 127,839,242 (GRCm39)		probably benign	Het
Asic2	C	G	11: 80,862,282 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,531,351 (GRCm39)		probably null	Het
Brip1	A	G	11: 86,034,131 (GRCm39)	L530P	possibly damaging	Het
Bsn	G	T	9: 107,988,559 (GRCm39)		probably benign	Het
Btnl4	T	A	17: 34,688,608 (GRCm39)	H390L	probably benign	Het
Ccdc70	A	C	8: 22,463,324 (GRCm39)	K38T	probably damaging	Het
Ccni	G	A	5: 93,350,175 (GRCm39)	P35S	probably benign	Het
Cdh17	A	G	4: 11,810,451 (GRCm39)	D714G	possibly damaging	Het
Cenpf	A	G	1: 189,386,181 (GRCm39)	L2033P	probably damaging	Het
Cfap69	A	T	5: 5,671,924 (GRCm39)	M328K	probably damaging	Het
Cmah	T	G	13: 24,601,193 (GRCm39)		probably null	Het
Cog6	T	C	3: 52,918,050 (GRCm39)	T163A	probably benign	Het
Cyp2j8	G	A	4: 96,389,433 (GRCm39)	S130F	probably benign	Het
Dgki	A	G	6: 36,989,831 (GRCm39)	V636A	probably damaging	Het
Dmkn	T	A	7: 30,464,211 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,012,276 (GRCm39)	I3679T	possibly damaging	Het
Dsp	A	T	13: 38,380,740 (GRCm39)	Y2495F	possibly damaging	Het
Exosc4	C	T	15: 76,213,689 (GRCm39)	A171V	probably benign	Het
Fbxw24	A	G	9: 109,452,577 (GRCm39)		probably benign	Het
Flvcr1	A	T	1: 190,757,779 (GRCm39)	L171Q	probably damaging	Het
Fsd1	G	T	17: 56,303,445 (GRCm39)		probably null	Het
Gm7732	A	G	17: 21,350,106 (GRCm39)		noncoding transcript	Het
H2-K2	A	C	17: 34,194,597 (GRCm39)		noncoding transcript	Het
Hgf	A	G	5: 16,798,857 (GRCm39)	N295S	probably damaging	Het
Ift88	T	A	14: 57,754,870 (GRCm39)	D811E	probably benign	Het
Igsf9b	T	A	9: 27,234,657 (GRCm39)		probably null	Het
Immt	T	A	6: 71,840,156 (GRCm39)	V311E	probably damaging	Het
Ipo11	T	A	13: 107,056,119 (GRCm39)	N51I	possibly damaging	Het
Isy1	T	C	6: 87,796,158 (GRCm39)	K260E	probably damaging	Het
Jchain	T	G	5: 88,674,061 (GRCm39)	I28L	probably benign	Het
Jmjd1c	T	A	10: 67,054,725 (GRCm39)		probably null	Het
Kif13b	T	C	14: 64,989,111 (GRCm39)		probably benign	Het
Klhdc7b	T	C	15: 89,272,372 (GRCm39)	Y427H	possibly damaging	Het
Klhl8	T	C	5: 104,024,159 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,341,292 (GRCm39)	D963N	probably damaging	Het
Ltbp3	G	T	19: 5,796,776 (GRCm39)		probably benign	Het
Ltf	C	A	9: 110,869,447 (GRCm39)	Q41K	probably benign	Het
Med4	T	A	14: 73,754,097 (GRCm39)	I148N	probably damaging	Het
Mlh3	T	G	12: 85,294,471 (GRCm39)	S1242R	possibly damaging	Het
Mllt6	T	C	11: 97,567,185 (GRCm39)		probably benign	Het
Mpdz	A	G	4: 81,210,710 (GRCm39)	I1712T	possibly damaging	Het
Mrgprb4	T	A	7: 47,848,301 (GRCm39)	H209L	probably benign	Het
Nkapl	A	T	13: 21,652,610 (GRCm39)	M1K	probably null	Het
Nmur2	T	A	11: 55,920,324 (GRCm39)		probably benign	Het
Nsun2	T	A	13: 69,691,816 (GRCm39)		probably benign	Het
Or10ag60	A	G	2: 87,438,271 (GRCm39)	I180V	probably benign	Het
Or8k35	G	A	2: 86,424,425 (GRCm39)	T249I	probably benign	Het
Ovgp1	T	C	3: 105,882,146 (GRCm39)		probably benign	Het
Pcdh8	A	G	14: 80,008,131 (GRCm39)	V144A	possibly damaging	Het
Pcnx3	G	A	19: 5,727,756 (GRCm39)		probably benign	Het
Pla2r1	C	A	2: 60,309,874 (GRCm39)	V570L	possibly damaging	Het
Plxnd1	C	A	6: 115,943,599 (GRCm39)	E1202D	possibly damaging	Het
Ppp1r37	T	C	7: 19,266,179 (GRCm39)	E529G	probably benign	Het
Prdm15	A	G	16: 97,613,833 (GRCm39)	F496L	possibly damaging	Het
Prlhr	G	T	19: 60,456,497 (GRCm39)	S23*	probably null	Het
Prlhr	A	T	19: 60,456,443 (GRCm39)	V41D	probably benign	Het
Prpf4	C	T	4: 62,332,777 (GRCm39)		probably benign	Het
Psg26	C	T	7: 18,209,160 (GRCm39)	R416H	probably benign	Het
Psg26	T	C	7: 18,212,212 (GRCm39)	H381R	probably benign	Het
Ralgds	T	G	2: 28,439,128 (GRCm39)	M717R	probably benign	Het
Rbms1	T	C	2: 60,672,756 (GRCm39)	N44D	probably damaging	Het
Rpa1	T	C	11: 75,209,227 (GRCm39)		probably benign	Het
Rprd2	T	C	3: 95,673,699 (GRCm39)	N568S	probably benign	Het
Rptor	A	G	11: 119,763,202 (GRCm39)	M929V	probably benign	Het
Rspo1	T	A	4: 124,900,942 (GRCm39)	C97S	possibly damaging	Het
Scin	C	T	12: 40,129,606 (GRCm39)	G396S	probably damaging	Het
Scn9a	T	C	2: 66,377,456 (GRCm39)	N409D	probably damaging	Het
Sf3b1	A	G	1: 55,058,544 (GRCm39)	I15T	probably damaging	Het
Sh3bp2	T	C	5: 34,712,839 (GRCm39)	V149A	probably damaging	Het
Slc39a12	T	A	2: 14,412,237 (GRCm39)		probably benign	Het
Sp9	G	T	2: 73,104,171 (GRCm39)	A242S	possibly damaging	Het
Srr	A	G	11: 74,801,891 (GRCm39)	V126A	possibly damaging	Het
Tatdn3	G	T	1: 190,785,046 (GRCm39)		probably benign	Het
Tex14	G	A	11: 87,390,439 (GRCm39)	V379I	probably benign	Het
Tmed6	T	C	8: 107,788,356 (GRCm39)	N197S	probably damaging	Het
Ttbk2	A	T	2: 120,575,641 (GRCm39)	I1043N	probably benign	Het
Ttbk2	G	A	2: 120,579,056 (GRCm39)	L689F	probably benign	Het
Ttn	A	G	2: 76,641,040 (GRCm39)	S5283P	probably damaging	Het
Ube3b	C	A	5: 114,540,616 (GRCm39)	S441*	probably null	Het
Ush2a	G	A	1: 188,530,027 (GRCm39)	C3272Y	probably damaging	Het
Vac14	T	A	8: 111,359,109 (GRCm39)	I95K	probably damaging	Het
Vangl2	G	A	1: 171,833,784 (GRCm39)	A433V	probably damaging	Het
Vwa5b1	A	T	4: 138,336,135 (GRCm39)	V153D	probably damaging	Het
Zfhx3	T	A	8: 109,682,282 (GRCm39)	D3240E	unknown	Het
Zfp945	A	G	17: 23,070,004 (GRCm39)	C632R	probably damaging	Het
Zfyve26	G	A	12: 79,312,576 (GRCm39)		probably benign	Het
Zyg11b	A	T	4: 108,099,273 (GRCm39)	I606N	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- CTGATTCCCAGCAGTAAAAGTCCCC -3'
(R):5'- AGCCCTGGAATATGATAGCTCCCC -3'

Sequencing Primer
(F):5'- AAGTCCCCACCCACTAGTTTATC -3'
(R):5'- GAATATGATAGCTCCCCTGTGGC -3'

Posted On

2013-07-30