Mutagenetix > Incidental Mutation

Incidental Mutation 'R1912:Asph'

210362

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

039930-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9449085-9669344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9453335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 646 (E646G)

Ref Sequence

ENSEMBL: ENSMUSP00000103976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038841] [ENSMUST00000078139] [ENSMUST00000108339] [ENSMUST00000108340] [ENSMUST00000108348]

AlphaFold

Q8BSY0

Predicted Effect

probably benign
Transcript: ENSMUST00000038841

SMART Domains

Protein: ENSMUSP00000035649
Gene: ENSMUSG00000041216

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
CRAL_TRIO_N	72	97	5.34e-6	SMART
SEC14	118	276	1.98e-36	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078139
AA Change: E729G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077273
Gene: ENSMUSG00000028207
AA Change: E729G

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 damaging
Transcript: ENSMUST00000108339
AA Change: E646G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103976
Gene: ENSMUSG00000028207
AA Change: E646G

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 damaging
Transcript: ENSMUST00000108340
AA Change: E713G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103977
Gene: ENSMUSG00000028207
AA Change: E713G

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

probably benign
Transcript: ENSMUST00000108348

SMART Domains

Protein: ENSMUSP00000103985
Gene: ENSMUSG00000041216

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
CRAL_TRIO_N	72	97	5.34e-6	SMART
SEC14	118	276	1.98e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151232

Meta Mutation Damage Score

0.4385

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,288,582 (GRCm39)	M132V	probably benign	Het
4921524L21Rik	T	A	18: 6,620,205 (GRCm39)	I45N	possibly damaging	Het
Abcb6	A	G	1: 75,156,599 (GRCm39)	V55A	probably benign	Het
Adam28	A	T	14: 68,881,780 (GRCm39)	D105E	probably benign	Het
Ahnak	T	C	19: 8,995,245 (GRCm39)	S5510P	probably damaging	Het
Aldh3b1	T	G	19: 3,971,187 (GRCm39)	D159A	probably damaging	Het
Alx1	A	G	10: 102,861,222 (GRCm39)	L102P	probably damaging	Het
Ankrd50	C	T	3: 38,510,925 (GRCm39)	V481I	probably benign	Het
Aox4	G	T	1: 58,303,561 (GRCm39)	G1200W	probably damaging	Het
Arhgap45	A	C	10: 79,856,524 (GRCm39)	D24A	probably benign	Het
Arhgef16	A	T	4: 154,364,780 (GRCm39)		probably null	Het
Asic4	A	T	1: 75,445,876 (GRCm39)	Y235F	possibly damaging	Het
Atg4d	A	G	9: 21,183,935 (GRCm39)	D350G	probably damaging	Het
Auts2	T	C	5: 131,472,412 (GRCm39)	T347A	probably damaging	Het
Bsnd	A	T	4: 106,345,227 (GRCm39)	L73*	probably null	Het
Cachd1	A	T	4: 100,810,366 (GRCm39)	S323C	probably damaging	Het
Cacna1e	A	G	1: 154,312,195 (GRCm39)	I1290T	probably damaging	Het
Cdh8	T	A	8: 99,825,502 (GRCm39)	N498Y	probably damaging	Het
Cdkn3	A	G	14: 47,007,291 (GRCm39)		probably null	Het
Celf2	A	T	2: 6,620,564 (GRCm39)	M40K	probably damaging	Het
Cfap57	A	C	4: 118,472,207 (GRCm39)	S57R	probably damaging	Het
Cfh	A	G	1: 140,063,879 (GRCm39)		probably null	Het
Chdh	A	G	14: 29,754,745 (GRCm39)	S252G	probably benign	Het
Col8a1	T	A	16: 57,448,287 (GRCm39)	I408F	unknown	Het
Corin	C	T	5: 72,515,746 (GRCm39)	C303Y	probably damaging	Het
Crlf2	C	T	5: 109,705,007 (GRCm39)	C66Y	possibly damaging	Het
Csmd1	C	T	8: 16,284,012 (GRCm39)		probably null	Het
Cyp4f16	T	C	17: 32,764,018 (GRCm39)	V270A	probably damaging	Het
Defa29	T	A	8: 21,816,028 (GRCm39)	H113L	possibly damaging	Het
Dhx35	A	T	2: 158,684,227 (GRCm39)	N501Y	probably damaging	Het
Dipk1b	A	G	2: 26,522,716 (GRCm39)	E55G	probably damaging	Het
Dst	A	G	1: 34,330,931 (GRCm39)	R4690G	probably damaging	Het
Elac2	T	A	11: 64,885,089 (GRCm39)	D439E	probably benign	Het
Ercc6	A	G	14: 32,298,760 (GRCm39)	R1383G	probably damaging	Het
Fat3	T	A	9: 15,881,284 (GRCm39)	Y3196F	probably damaging	Het
Fbxw13	A	T	9: 109,010,611 (GRCm39)	D342E	probably benign	Het
Fmod	A	G	1: 133,968,458 (GRCm39)	N166S	possibly damaging	Het
Folh1	A	G	7: 86,412,175 (GRCm39)	S199P	possibly damaging	Het
Fv1	A	G	4: 147,954,235 (GRCm39)	N267S	possibly damaging	Het
Fyn	T	C	10: 39,402,828 (GRCm39)	V200A	possibly damaging	Het
Gfus	A	T	15: 75,797,498 (GRCm39)	D278E	possibly damaging	Het
Ggnbp2	T	C	11: 84,753,122 (GRCm39)	N39S	probably benign	Het
Gm10509	A	T	17: 21,909,831 (GRCm39)	I53F	possibly damaging	Het
Gpr139	A	T	7: 118,744,102 (GRCm39)	I161N	possibly damaging	Het
Grhl2	C	T	15: 37,358,651 (GRCm39)	T148I	probably damaging	Het
Hmcn1	C	A	1: 150,480,633 (GRCm39)	M4514I	probably benign	Het
Igsf10	T	G	3: 59,236,993 (GRCm39)	T1063P	probably benign	Het
Itgav	A	G	2: 83,625,830 (GRCm39)	Y792C	possibly damaging	Het
Itgb2l	T	C	16: 96,228,135 (GRCm39)	Q456R	probably benign	Het
Jph4	G	A	14: 55,345,818 (GRCm39)	A613V	probably benign	Het
Kcna2	A	G	3: 107,012,717 (GRCm39)	T433A	probably benign	Het
Kmt2e	A	G	5: 23,697,393 (GRCm39)	K97R	probably benign	Het
Krba1	C	A	6: 48,392,699 (GRCm39)	A871E	probably benign	Het
Loxhd1	T	C	18: 77,427,833 (GRCm39)	F468L	probably benign	Het
Lpin1	A	G	12: 16,596,728 (GRCm39)	V713A	probably damaging	Het
Ltbp2	T	A	12: 84,832,637 (GRCm39)	I67F	probably damaging	Het
Mdc1	G	A	17: 36,155,430 (GRCm39)	R35H	probably benign	Het
Mdc1	A	G	17: 36,161,703 (GRCm39)	D872G	probably benign	Het
Mgam	C	T	6: 40,741,119 (GRCm39)	Q959*	probably null	Het
Mttp	T	A	3: 137,821,788 (GRCm39)	T260S	probably benign	Het
Naalad2	A	T	9: 18,287,831 (GRCm39)	D266E	probably benign	Het
Nans	T	A	4: 46,500,162 (GRCm39)	L182H	probably damaging	Het
Nbas	T	A	12: 13,616,145 (GRCm39)	C2228S	probably benign	Het
Nfix	A	T	8: 85,448,306 (GRCm39)	V407E	probably damaging	Het
Nktr	T	A	9: 121,579,306 (GRCm39)		probably benign	Het
Nlrp10	G	A	7: 108,524,602 (GRCm39)	R293*	probably null	Het
Nrxn3	T	C	12: 88,762,112 (GRCm39)	F53S	probably damaging	Het
Or11h4	G	A	14: 50,974,235 (GRCm39)	P128L	probably damaging	Het
Or12e7	T	C	2: 87,287,727 (GRCm39)	S73P	probably damaging	Het
Or1e21	A	T	11: 73,344,820 (GRCm39)	F73I	probably damaging	Het
Or2f2	T	C	6: 42,767,411 (GRCm39)	I146T	probably benign	Het
Or3a1c	T	C	11: 74,046,711 (GRCm39)	C244R	probably damaging	Het
Or5ak24	T	A	2: 85,260,604 (GRCm39)	N190Y	probably damaging	Het
Or5p68	A	G	7: 107,946,014 (GRCm39)	L58P	probably damaging	Het
Or6d12	A	G	6: 116,492,950 (GRCm39)	T71A	probably benign	Het
Oxld1	A	G	11: 120,347,732 (GRCm39)	V155A	probably damaging	Het
Pamr1	T	A	2: 102,472,645 (GRCm39)	F648Y	probably damaging	Het
Parg	T	C	14: 31,932,497 (GRCm39)	W446R	probably damaging	Het
Pate13	A	T	9: 35,819,915 (GRCm39)	T23S	probably benign	Het
Phf3	A	T	1: 30,843,426 (GRCm39)	H1844Q	probably damaging	Het
Phf7	T	C	14: 30,962,281 (GRCm39)	I175V	possibly damaging	Het
Pibf1	G	A	14: 99,425,245 (GRCm39)		probably null	Het
Plcxd1	A	G	5: 110,251,308 (GRCm39)	I295V	probably benign	Het
Pole2	A	C	12: 69,256,764 (GRCm39)	Y254D	probably damaging	Het
Ppm1e	T	A	11: 87,135,196 (GRCm39)	I225F	probably benign	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Resf1	T	A	6: 149,230,342 (GRCm39)	D1129E	possibly damaging	Het
Rnase2b	T	G	14: 51,400,357 (GRCm39)	V146G	probably damaging	Het
Rnf169	G	A	7: 99,575,461 (GRCm39)	T378I	probably damaging	Het
Rpf2	A	G	10: 40,112,197 (GRCm39)	F80L	probably benign	Het
Sec11c	T	A	18: 65,947,945 (GRCm39)	D128E	probably damaging	Het
Septin12	A	G	16: 4,806,417 (GRCm39)	V248A	probably damaging	Het
Serinc1	T	C	10: 57,401,547 (GRCm39)	N82S	probably benign	Het
Serpina9	A	C	12: 103,967,508 (GRCm39)	W296G	probably damaging	Het
Sgo2b	A	C	8: 64,384,503 (GRCm39)	D164E	probably damaging	Het
Slc15a3	A	G	19: 10,825,977 (GRCm39)	N223D	probably damaging	Het
Slc44a3	A	G	3: 121,325,815 (GRCm39)	Y12H	probably benign	Het
Slco3a1	A	G	7: 74,154,359 (GRCm39)	F42S	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Snx7	A	T	3: 117,623,317 (GRCm39)		probably null	Het
Sorl1	A	T	9: 41,993,246 (GRCm39)	D259E	probably damaging	Het
Stpg2	G	A	3: 139,228,742 (GRCm39)		probably null	Het
Strn	T	A	17: 78,991,824 (GRCm39)	Y165F	probably damaging	Het
Sval2	T	A	6: 41,841,254 (GRCm39)	*106R	probably null	Het
Tcaf3	A	G	6: 42,573,622 (GRCm39)	S197P	possibly damaging	Het
Tespa1	C	A	10: 130,190,592 (GRCm39)	T73N	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Thoc5	C	A	11: 4,865,561 (GRCm39)	T380K	probably benign	Het
Tmprss7	T	A	16: 45,476,911 (GRCm39)	R784*	probably null	Het
Trank1	A	T	9: 111,219,777 (GRCm39)	L2171F	probably benign	Het
Trpm2	T	G	10: 77,781,710 (GRCm39)	K303T	probably benign	Het
Unc80	G	A	1: 66,549,784 (GRCm39)	V681M	probably damaging	Het
Usp40	A	G	1: 87,874,368 (GRCm39)	F1131L	probably benign	Het
Vmn1r215	A	T	13: 23,260,673 (GRCm39)	I238F	possibly damaging	Het
Vwa3a	A	T	7: 120,394,850 (GRCm39)	Y890F	probably damaging	Het
Zdhhc18	A	G	4: 133,341,171 (GRCm39)	L234P	probably damaging	Het
Zfp109	A	G	7: 23,927,676 (GRCm39)	S578P	probably damaging	Het
Zfp704	T	C	3: 9,674,418 (GRCm39)	D121G	unknown	Het
Zgrf1	G	T	3: 127,356,786 (GRCm39)	V671L	probably benign	Het
Zkscan8	A	T	13: 21,704,927 (GRCm39)	C265*	probably null	Het
Zscan26	T	C	13: 21,629,310 (GRCm39)	I398V	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
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
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'- GCAGGAAGGCAAATGTTCCC -3'
(R):5'- GTCCATGGACAGAAACTGGTCC -3'

Sequencing Primer
(F):5'- CTCCAGTGAGTTCTAATCCAGAAGG -3'
(R):5'- GACAGAAACTGGTCCTCGAGC -3'

Posted On

2014-06-30