Mutagenetix > Incidental Mutations

Incidental Mutation 'R1840:Asph'

205676

Institutional Source

Beutler Lab

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

MMRRC Submission

039866-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1840 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9448069-9669344 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9601340 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 136 (M136L)

Ref Sequence

ENSEMBL: ENSMUSP00000103972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078139] [ENSMUST00000084915] [ENSMUST00000108333] [ENSMUST00000108334] [ENSMUST00000108335] [ENSMUST00000108337] [ENSMUST00000108339] [ENSMUST00000108340]

Predicted Effect

probably benign
Transcript: ENSMUST00000078139
AA Change: M231L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077273
Gene: ENSMUSG00000028207
AA Change: M231L

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: ENSMUST00000084915
AA Change: M231L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000081978
Gene: ENSMUSG00000028207
AA Change: M231L

Domain	Start	End	E-Value	Type
low complexity region	9	40	N/A	INTRINSIC
Pfam:Asp-B-Hydro_N	52	307	6.2e-105	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108333
AA Change: M182L

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103970
Gene: ENSMUSG00000028207
AA Change: M182L

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000108334
AA Change: M193L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103971
Gene: ENSMUSG00000028207
AA Change: M193L

Domain	Start	End	E-Value	Type
Pfam:Asp-B-Hydro_N	14	269	3.8e-105	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108335
AA Change: M136L

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103972
Gene: ENSMUSG00000028207
AA Change: M136L

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000108337
AA Change: M231L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103974
Gene: ENSMUSG00000028207
AA Change: M231L

Domain	Start	End	E-Value	Type
low complexity region	9	40	N/A	INTRINSIC
Pfam:Asp-B-Hydro_N	52	291	1.8e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108339
AA Change: M164L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103976
Gene: ENSMUSG00000028207
AA Change: M164L

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: M231L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103977
Gene: ENSMUSG00000028207
AA Change: M231L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152058

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.2%
20x: 92.2%

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029I15Rik	T	C	2: 92,383,209	S36P	probably benign	Het
2510009E07Rik	T	A	16: 21,653,486	M85L	probably benign	Het
Aatk	T	G	11: 120,013,732	D206A	probably damaging	Het
Agap3	A	G	5: 24,500,231	D719G	probably damaging	Het
Agrn	G	A	4: 156,167,415	R1797C	probably damaging	Het
Ascc3	T	A	10: 50,690,161	M734K	probably benign	Het
Atm	A	T	9: 53,456,530	V2431E	probably damaging	Het
Atp2b1	A	G	10: 99,022,929	H1158R	probably benign	Het
Atxn7l1	A	G	12: 33,371,033		probably null	Het
BC024139	G	T	15: 76,120,642	S611R	probably benign	Het
Becn1	C	T	11: 101,295,566	G105S	probably damaging	Het
Bud13	A	G	9: 46,286,408	E70G	probably damaging	Het
Cacul1	A	T	19: 60,534,250	L282*	probably null	Het
Ccar1	T	A	10: 62,763,510	K614M	probably damaging	Het
Cd96	T	C	16: 46,099,092	T189A	probably benign	Het
Cdh5	C	A	8: 104,126,616	Y189*	probably null	Het
Chka	A	G	19: 3,886,460	N284S	probably benign	Het
Cntn6	A	T	6: 104,774,480	I366F	probably damaging	Het
Csmd3	C	T	15: 47,607,164	G3372E	probably damaging	Het
Cyp4f16	T	C	17: 32,543,006		probably null	Het
Dcaf6	A	G	1: 165,399,748	V270A	probably damaging	Het
Ddx60	T	A	8: 61,969,553	I608N	probably damaging	Het
Dnah9	A	T	11: 65,834,198	C1849*	probably null	Het
Eci3	C	A	13: 34,960,041	V34L	probably benign	Het
Epha1	C	T	6: 42,363,588	R583H	probably damaging	Het
Erbin	A	T	13: 103,834,947	N720K	probably benign	Het
Eya1	T	A	1: 14,229,504	R346*	probably null	Het
Fam189a1	C	A	7: 64,759,195	V484L	probably benign	Het
Fhdc1	G	A	3: 84,445,821	T699I	possibly damaging	Het
Flvcr2	T	C	12: 85,803,221	V427A	possibly damaging	Het
Fzd9	T	A	5: 135,249,571	T487S	probably benign	Het
Gas2l3	T	C	10: 89,422,251	Y160C	possibly damaging	Het
Gm10264	T	C	12: 88,329,411	V53A	probably benign	Het
Gm10269	T	C	18: 20,682,809	K52R	probably damaging	Het
Gm16432	A	G	1: 178,003,015	D30G	possibly damaging	Het
Gm8674	A	T	13: 49,901,765		noncoding transcript	Het
Gpr61	A	G	3: 108,150,481	V288A	possibly damaging	Het
Gramd4	T	C	15: 86,130,192		probably null	Het
Gtpbp4	A	G	13: 8,979,464	L403P	probably benign	Het
H6pd	A	T	4: 149,982,050	D626E	possibly damaging	Het
Herc6	T	A	6: 57,658,106	L769*	probably null	Het
Hes5	A	G	4: 154,961,254	K58R	probably damaging	Het
Heyl	A	G	4: 123,241,390	I59V	probably damaging	Het
Hpca	A	G	4: 129,118,600	F48L	probably damaging	Het
Ice1	C	T	13: 70,606,218	R583Q	probably benign	Het
Ints2	C	T	11: 86,233,085	G626R	probably damaging	Het
Kansl1l	T	A	1: 66,778,032	I390F	probably damaging	Het
Kat5	C	T	19: 5,609,238	V95M	possibly damaging	Het
Kcnh4	T	A	11: 100,745,341	I827F	possibly damaging	Het
Kif1b	C	T	4: 149,188,132	R138Q	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lats1	T	A	10: 7,710,939	L955*	probably null	Het
Ldlrad2	A	C	4: 137,572,184	C110G	possibly damaging	Het
Lgi3	G	A	14: 70,534,776		probably null	Het
Lingo1	A	G	9: 56,620,558	M249T	probably benign	Het
Lrig3	A	T	10: 126,013,389	R993*	probably null	Het
Lsm14b	T	A	2: 180,026,728	I74N	probably damaging	Het
Lyplal1	T	A	1: 186,100,217	I114F	probably damaging	Het
Mmp15	A	G	8: 95,365,420	Y86C	probably damaging	Het
Myh2	A	G	11: 67,186,487	E816G	probably benign	Het
Myo5c	A	G	9: 75,249,735	N151S	probably damaging	Het
Nckap1	T	A	2: 80,502,250	E1082V	possibly damaging	Het
Nrg4	A	C	9: 55,282,606		probably benign	Het
Nrp2	T	C	1: 62,738,339	L101P	probably damaging	Het
Olfr1180	T	C	2: 88,412,067	D197G	probably benign	Het
Olfr126	A	T	17: 37,850,748	D52V	probably damaging	Het
Olfr521	A	T	7: 99,767,596	T145S	probably benign	Het
Olfr638	A	G	7: 104,004,117	I281V	probably benign	Het
Olfr992	G	A	2: 85,400,168	R122C	probably benign	Het
Parp14	T	A	16: 35,863,449	E169V	probably damaging	Het
Pcolce2	G	A	9: 95,670,117	R101H	probably damaging	Het
Pcolce2	A	T	9: 95,670,203	N130Y	probably benign	Het
Plscr1	A	T	9: 92,258,074	S5C	unknown	Het
Plxdc2	T	C	2: 16,669,856	V338A	probably benign	Het
Psg23	T	A	7: 18,610,438	N364I	possibly damaging	Het
Psmg4	A	G	13: 34,178,056	E109G	probably damaging	Het
Ptk2	T	C	15: 73,210,884	E908G	probably damaging	Het
Ptpn14	G	A	1: 189,786,851	R26H	probably damaging	Het
Ranbp2	T	A	10: 58,478,766	N1769K	probably benign	Het
Rbm14	C	T	19: 4,801,795		probably benign	Het
Rgs7	A	T	1: 175,153,148	D103E	probably damaging	Het
Rmnd5a	G	A	6: 71,398,455	L80F	probably benign	Het
Rock2	T	A	12: 16,928,989	D93E	probably benign	Het
Rps6ka6	A	G	X: 111,420,932	I246T	possibly damaging	Het
Rubcn	T	C	16: 32,826,172	M803V	possibly damaging	Het
Ryr3	T	C	2: 112,750,820	Y2889C	probably damaging	Het
Sall2	T	C	14: 52,313,725	N671S	probably damaging	Het
Selplg	T	C	5: 113,819,844	T134A	possibly damaging	Het
Sez6	C	A	11: 77,953,717	T122N	possibly damaging	Het
Slc9b1	T	A	3: 135,357,468	D4E	unknown	Het
Smim18	A	G	8: 33,742,348	M81T	probably benign	Het
Snap91	A	T	9: 86,815,465	H281Q	probably damaging	Het
Sparc	C	A	11: 55,395,866	C302F	probably damaging	Het
Spg11	A	G	2: 122,101,756	L535P	probably damaging	Het
Spsb1	G	A	4: 149,906,631	T160I	probably damaging	Het
Stra6	A	G	9: 58,140,530	N128S	probably benign	Het
Strc	T	C	2: 121,379,296	E182G	probably damaging	Het
Sult2a6	A	G	7: 14,254,829	M2T	probably benign	Het
Sv2c	T	C	13: 95,981,844	N499S	probably benign	Het
Szt2	A	T	4: 118,365,657		probably benign	Het
Tbx20	A	T	9: 24,725,676	S372T	probably benign	Het
Tcp11l2	T	A	10: 84,604,599	S289T	probably damaging	Het
Tdrd1	A	G	19: 56,842,312	E259G	probably damaging	Het
Thsd7a	T	A	6: 12,330,974	I1390L	probably benign	Het
Tln2	G	A	9: 67,342,043	R921W	probably damaging	Het
Tmem126a	C	A	7: 90,452,884	G36*	probably null	Het
Tmem245	C	T	4: 56,903,947	V606I	probably benign	Het
Trpm6	A	G	19: 18,866,267	D1665G	probably benign	Het
Ubac2	T	G	14: 121,994,262	V200G	probably benign	Het
Ubr5	G	A	15: 37,980,917	A2372V	possibly damaging	Het
Ugcg	C	T	4: 59,219,517	P285S	probably damaging	Het
Vmn1r9	T	C	6: 57,071,537	V199A	probably damaging	Het
Vmn2r118	T	A	17: 55,610,406	K369*	probably null	Het
Xpnpep3	G	T	15: 81,427,353	A87S	probably benign	Het
Zc3h7a	C	T	16: 11,161,026	R95H	probably damaging	Het
Zdhhc11	A	G	13: 73,974,652	N169S	probably damaging	Het
Zfp62	T	A	11: 49,216,388	D435E	probably damaging	Het
Zfyve16	T	C	13: 92,511,525	D1007G	possibly damaging	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
IGL02652:Asph	APN	4	9529984	missense	probably benign	0.11
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
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
Z1088:Asph	UTSW	4	9630715	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GTGGGAACAAAACACCCTTG -3'
(R):5'- TTTGTGCCTAGATTCTATATGCAGC -3'

Sequencing Primer
(F):5'- TTACAGAGACAAAGTTTGGAGCTG -3'
(R):5'- AGCTATGCTAGAAGCTACACTATC -3'

Posted On

2014-06-23