Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02652:Asph'

302213

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Asph

Ensembl Gene

ENSMUSG00000028207

Gene Name

aspartate-beta-hydroxylase

Synonyms

aspartyl beta-hydroxylase, BAH, calsequestrin-binding protein, jumbug, 2310005F16Rik, 3110001L23Rik, junctate, cI-37, Junctin

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02652

Quality Score

Status

Chromosome

Chromosomal Location

9448069-9669344 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9529984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 347 (V347I)

Ref Sequence

ENSEMBL: ENSMUSP00000103976 (fasta)

Gene Model

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

AlphaFold

Q8BSY0

Predicted Effect

probably benign
Transcript: ENSMUST00000078139
AA Change: V430I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000077273
Gene: ENSMUSG00000028207
AA Change: V430I

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
AA Change: V347I

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103976
Gene: ENSMUSG00000028207
AA Change: V347I

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
AA Change: V414I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103977
Gene: ENSMUSG00000028207
AA Change: V414I

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	A	T	17: 67,884,800	D139E	probably benign	Het
Ccdc138	A	T	10: 58,513,079	D149V	probably benign	Het
Cep192	A	G	18: 67,858,850		probably benign	Het
Cnnm2	G	A	19: 46,763,211	R480Q	probably damaging	Het
Col24a1	C	A	3: 145,492,301	S1321*	probably null	Het
Cops6	T	G	5: 138,161,438		probably null	Het
Crim1	G	A	17: 78,315,677	A435T	probably damaging	Het
Cttn	G	T	7: 144,441,731	Q382K	probably benign	Het
Dhx38	A	G	8: 109,556,129	L635P	probably damaging	Het
Dmtf1	T	A	5: 9,121,853	T458S	probably benign	Het
Dnah5	T	C	15: 28,366,187	F2682S	probably damaging	Het
Dnah6	T	A	6: 73,095,104	Q2413L	probably damaging	Het
Dock10	T	C	1: 80,592,844		probably null	Het
Engase	C	T	11: 118,478,950	P63S	probably damaging	Het
Grik4	A	G	9: 42,675,277	V94A	possibly damaging	Het
Heatr6	T	C	11: 83,769,732	V566A	probably damaging	Het
Hydin	A	C	8: 110,589,522	T4349P	possibly damaging	Het
Inpp4b	G	A	8: 81,770,800		probably benign	Het
Mertk	A	G	2: 128,801,270	E863G	probably benign	Het
Muc19	T	A	15: 91,877,815		noncoding transcript	Het
Myo9a	T	A	9: 59,863,928	F928I	probably damaging	Het
Nyap2	T	C	1: 81,241,720	Y486H	probably damaging	Het
Oas1e	T	C	5: 120,795,405	R32G	probably damaging	Het
Olfr113	A	T	17: 37,574,945	Y159*	probably null	Het
Olfr1298	A	G	2: 111,645,494	F168L	probably benign	Het
Osbpl6	G	A	2: 76,593,454	R848Q	probably damaging	Het
Piezo2	G	A	18: 63,024,475	T2388I	probably damaging	Het
Prkdc	A	G	16: 15,783,087	T2871A	probably benign	Het
Ptpn12	T	C	5: 21,002,437	K308E	probably benign	Het
Rgsl1	A	G	1: 153,825,490	L441P	probably damaging	Het
Rictor	T	C	15: 6,776,187		probably null	Het
Scn2a	T	A	2: 65,702,038	S665T	possibly damaging	Het
Scn8a	A	G	15: 101,013,476	I926V	probably damaging	Het
Snrpg	T	C	6: 86,376,528	I30T	probably damaging	Het
Spryd3	A	T	15: 102,118,990		probably null	Het
Svil	A	G	18: 5,114,531	D2036G	probably damaging	Het
Synj2	A	T	17: 6,017,593	I551F	probably damaging	Het
Tiam2	A	T	17: 3,439,696		probably benign	Het
Tmem132b	T	C	5: 125,787,575	F915S	probably damaging	Het
Try5	C	A	6: 41,311,408	V204L	probably benign	Het
Vmn2r6	T	C	3: 64,556,328	T362A	probably benign	Het

Other mutations in Asph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Asph	APN	4	9639322	missense	probably damaging	1.00
IGL00928:Asph	APN	4	9594675	missense	probably benign	0.07
IGL01022:Asph	APN	4	9601344	missense	possibly damaging	0.63
IGL01677:Asph	APN	4	9607853	missense	probably damaging	1.00
IGL01907:Asph	APN	4	9514643	missense	possibly damaging	0.59
IGL01958:Asph	APN	4	9474904	missense	possibly damaging	0.93
IGL01976:Asph	APN	4	9475471	missense	probably damaging	0.98
IGL01989:Asph	APN	4	9602462	splice site	probably benign
IGL02379:Asph	APN	4	9474980	missense	probably damaging	1.00
IGL02444:Asph	APN	4	9542319	splice site	probably benign
IGL02679:Asph	APN	4	9601349	missense	possibly damaging	0.63
IGL02735:Asph	APN	4	9598759	missense	probably damaging	1.00
IGL02875:Asph	APN	4	9595380	missense	probably damaging	1.00
IGL03022:Asph	APN	4	9517668	missense	possibly damaging	0.48
R0026:Asph	UTSW	4	9601361	missense	probably damaging	0.97
R0121:Asph	UTSW	4	9635918	missense	probably damaging	1.00
R0357:Asph	UTSW	4	9453314	missense	probably benign	0.01
R0410:Asph	UTSW	4	9595415	missense	probably damaging	1.00
R0554:Asph	UTSW	4	9604581	missense	probably damaging	0.99
R0577:Asph	UTSW	4	9604620	missense	probably benign	0.02
R0718:Asph	UTSW	4	9514683	splice site	probably benign
R0725:Asph	UTSW	4	9542275	missense	probably damaging	1.00
R1383:Asph	UTSW	4	9537807	splice site	probably null
R1654:Asph	UTSW	4	9453315	missense	probably benign	0.31
R1694:Asph	UTSW	4	9610869	missense	probably damaging	0.99
R1771:Asph	UTSW	4	9598773	missense	probably damaging	0.99
R1776:Asph	UTSW	4	9598773	missense	probably damaging	0.99
R1840:Asph	UTSW	4	9601340	missense	possibly damaging	0.60
R1911:Asph	UTSW	4	9453335	missense	probably damaging	1.00
R1912:Asph	UTSW	4	9453335	missense	probably damaging	1.00
R2117:Asph	UTSW	4	9517671	nonsense	probably null
R2860:Asph	UTSW	4	9598277	missense	probably damaging	1.00
R2861:Asph	UTSW	4	9598277	missense	probably damaging	1.00
R2937:Asph	UTSW	4	9542314	splice site	probably benign
R3907:Asph	UTSW	4	9474934	missense	probably benign	0.23
R4154:Asph	UTSW	4	9639250	nonsense	probably null
R4623:Asph	UTSW	4	9622005	missense	possibly damaging	0.50
R4871:Asph	UTSW	4	9531968	missense	probably benign	0.02
R5196:Asph	UTSW	4	9607830	missense	probably damaging	0.99
R5540:Asph	UTSW	4	9635906	missense	probably damaging	1.00
R5757:Asph	UTSW	4	9637722	splice site	probably null
R6063:Asph	UTSW	4	9531960	missense	probably benign	0.05
R6072:Asph	UTSW	4	9643533	critical splice donor site	probably null
R7016:Asph	UTSW	4	9630604	splice site	probably null
R7133:Asph	UTSW	4	9484575	missense	probably benign	0.01
R7154:Asph	UTSW	4	9630930	missense	possibly damaging	0.85
R7201:Asph	UTSW	4	9474917	missense	probably damaging	1.00
R7316:Asph	UTSW	4	9537746	missense	probably benign	0.11
R7455:Asph	UTSW	4	9531732	splice site	probably null
R7516:Asph	UTSW	4	9630940	missense	possibly damaging	0.92
R7517:Asph	UTSW	4	9517697	missense	probably damaging	1.00
R7736:Asph	UTSW	4	9621930	missense	possibly damaging	0.81
R7818:Asph	UTSW	4	9475015	missense	probably damaging	1.00
R8356:Asph	UTSW	4	9537722	missense	probably benign	0.04
R8456:Asph	UTSW	4	9537722	missense	probably benign	0.04
R8768:Asph	UTSW	4	9453417	missense	probably damaging	1.00
R8856:Asph	UTSW	4	9630947	missense	possibly damaging	0.71
R9024:Asph	UTSW	4	9475025	missense	probably damaging	1.00
R9125:Asph	UTSW	4	9474928	missense	possibly damaging	0.58
R9390:Asph	UTSW	4	9635927	missense	probably damaging	1.00
R9708:Asph	UTSW	4	9542233	missense	probably damaging	1.00
Z1088:Asph	UTSW	4	9630715	missense	possibly damaging	0.96

Posted On

2015-04-16