Mutagenetix > Incidental Mutation

Incidental Mutation 'R7697:Siae'

593716

Institutional Source

Beutler Lab

Gene Symbol

Siae

Ensembl Gene

ENSMUSG00000001942

Gene Name

sialic acid acetylesterase

Synonyms

LSE, clone 165, Ysg2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37525117-37559554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37544950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 315 (Y315C)

Ref Sequence

ENSEMBL: ENSMUSP00000149505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002007] [ENSMUST00000213126] [ENSMUST00000215474]

AlphaFold

P70665

Predicted Effect

probably damaging
Transcript: ENSMUST00000002007
AA Change: Y243C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002007
Gene: ENSMUSG00000001942
AA Change: Y243C

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:DUF303	118	420	1.1e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213126
AA Change: Y280C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215474
AA Change: Y315C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit normal marginal zone B cell and memory phenotype T cell numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	T	C	14: 54,500,216 (GRCm39)	V87A	probably damaging	Het
Acadsb	A	G	7: 131,031,698 (GRCm39)	E178G	probably damaging	Het
Acoxl	A	G	2: 127,820,702 (GRCm39)	T365A	probably benign	Het
Adcy8	T	G	15: 64,618,850 (GRCm39)	I768L	probably benign	Het
Bloc1s4	A	G	5: 36,905,959 (GRCm39)	S11P	probably benign	Het
Brinp2	T	C	1: 158,095,496 (GRCm39)	I122V	probably benign	Het
Brwd1	T	C	16: 95,847,601 (GRCm39)	D673G	probably benign	Het
Cbx8	C	A	11: 118,931,637 (GRCm39)	E14*	probably null	Het
Cep295	T	A	9: 15,266,006 (GRCm39)	M49L	probably benign	Het
Cfap157	T	C	2: 32,669,765 (GRCm39)	N273D	probably benign	Het
Cntn3	A	T	6: 102,185,127 (GRCm39)	V663E	probably damaging	Het
Cntn3	C	T	6: 102,185,128 (GRCm39)	V663M	probably damaging	Het
Cspg5	G	C	9: 110,085,294 (GRCm39)	R488S	probably damaging	Het
Csrnp2	A	T	15: 100,385,953 (GRCm39)	M95K	probably damaging	Het
Dnah3	A	T	7: 119,566,657 (GRCm39)	V136E		Het
Drg2	T	A	11: 60,353,003 (GRCm39)	I212N	probably damaging	Het
Egfem1	T	C	3: 29,744,346 (GRCm39)		probably null	Het
Eif1ad18	T	C	12: 88,050,749 (GRCm39)	Y95H	probably damaging	Het
Enpep	T	A	3: 129,102,750 (GRCm39)	D402V	probably damaging	Het
Fanci	T	A	7: 79,056,040 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,881,306 (GRCm39)	V720D	probably damaging	Het
Fhod1	T	A	8: 106,074,563 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,456,516 (GRCm39)	I2238N	probably damaging	Het
Frmd4a	A	G	2: 4,488,892 (GRCm39)	E79G	probably damaging	Het
Gabrr2	A	T	4: 33,071,358 (GRCm39)	Y66F	probably benign	Het
Ggnbp1	T	G	17: 27,249,736 (GRCm39)	I192S	probably benign	Het
Gm32742	C	T	9: 51,058,901 (GRCm39)	V1039I	probably benign	Het
H2-D1	T	C	17: 35,482,121 (GRCm39)	L11P	probably damaging	Het
Hsd17b4	A	G	18: 50,263,208 (GRCm39)	Y25C	probably damaging	Het
Ildr2	C	A	1: 166,122,300 (GRCm39)	Q248K	probably benign	Het
Klrb1c	T	C	6: 128,757,273 (GRCm39)	H264R	probably benign	Het
Lrp11	C	T	10: 7,479,983 (GRCm39)	A346V	probably benign	Het
Mast4	G	A	13: 102,875,711 (GRCm39)	P1319L	probably damaging	Het
Mcm9	A	C	10: 53,491,990 (GRCm39)	F392V		Het
Med12l	C	T	3: 59,148,078 (GRCm39)	A965V	probably damaging	Het
Mrps7	A	G	11: 115,495,701 (GRCm39)	T80A	probably benign	Het
Mtor	T	A	4: 148,624,765 (GRCm39)	Y2125*	probably null	Het
Myoc	A	G	1: 162,475,049 (GRCm39)	E200G	probably damaging	Het
Natd1	A	G	11: 60,797,808 (GRCm39)	V39A	probably damaging	Het
Notch4	C	T	17: 34,789,159 (GRCm39)	T486I	probably damaging	Het
Or10am5	T	C	7: 6,517,645 (GRCm39)	Y261C	probably damaging	Het
Or10n1	A	G	9: 39,525,157 (GRCm39)	Q98R	probably damaging	Het
Or2c1	G	A	16: 3,657,430 (GRCm39)	V198M	probably damaging	Het
Or5aq6	T	A	2: 86,923,162 (GRCm39)	H193L	probably benign	Het
Pdss2	T	A	10: 43,221,544 (GRCm39)	I152N	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,065,885 (GRCm39)	E1395G	unknown	Het
Polr2b	T	C	5: 77,468,059 (GRCm39)	Y120H	probably damaging	Het
Pyroxd2	C	T	19: 42,735,805 (GRCm39)	C99Y	probably benign	Het
Rela	T	C	19: 5,691,630 (GRCm39)	V268A	probably damaging	Het
Rgs3	C	T	4: 62,575,379 (GRCm39)	P589S	probably benign	Het
Rtn1	A	G	12: 72,455,151 (GRCm39)	S59P	probably benign	Het
Susd3	C	A	13: 49,391,074 (GRCm39)	W147L	probably damaging	Het
Ttn	A	T	2: 76,702,047 (GRCm39)		probably null	Het
Ubr3	A	G	2: 69,728,030 (GRCm39)	Y131C	probably damaging	Het
Unc80	C	T	1: 66,677,104 (GRCm39)	P2011L	possibly damaging	Het
Usp9y	T	C	Y: 1,316,990 (GRCm39)	E1853G	possibly damaging	Het
Wls	C	A	3: 159,616,955 (GRCm39)	H331Q	probably benign	Het
Xkr6	C	A	14: 63,844,628 (GRCm39)	P217Q	probably damaging	Het

Other mutations in Siae

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Siae	APN	9	37,542,782 (GRCm39)	missense	probably damaging	0.98
IGL02696:Siae	APN	9	37,542,680 (GRCm39)	missense	probably damaging	1.00
BB009:Siae	UTSW	9	37,544,980 (GRCm39)	missense	probably benign	0.12
BB019:Siae	UTSW	9	37,544,980 (GRCm39)	missense	probably benign	0.12
R0531:Siae	UTSW	9	37,539,090 (GRCm39)	missense	probably benign	0.04
R1138:Siae	UTSW	9	37,553,988 (GRCm39)	missense	probably damaging	1.00
R1748:Siae	UTSW	9	37,542,902 (GRCm39)	critical splice donor site	probably null
R2175:Siae	UTSW	9	37,539,092 (GRCm39)	missense	probably damaging	1.00
R4301:Siae	UTSW	9	37,545,009 (GRCm39)	missense	possibly damaging	0.51
R4887:Siae	UTSW	9	37,539,096 (GRCm39)	missense	possibly damaging	0.93
R4989:Siae	UTSW	9	37,557,816 (GRCm39)	missense	possibly damaging	0.79
R5133:Siae	UTSW	9	37,557,816 (GRCm39)	missense	possibly damaging	0.79
R5134:Siae	UTSW	9	37,557,816 (GRCm39)	missense	possibly damaging	0.79
R5151:Siae	UTSW	9	37,542,869 (GRCm39)	missense	probably benign	0.02
R5242:Siae	UTSW	9	37,556,148 (GRCm39)	missense	probably damaging	1.00
R5459:Siae	UTSW	9	37,528,119 (GRCm39)	missense	probably damaging	1.00
R5571:Siae	UTSW	9	37,528,219 (GRCm39)	missense	probably benign	0.01
R6335:Siae	UTSW	9	37,544,277 (GRCm39)	missense	probably benign	0.03
R6552:Siae	UTSW	9	37,557,696 (GRCm39)	missense	possibly damaging	0.57
R6692:Siae	UTSW	9	37,554,095 (GRCm39)	critical splice donor site	probably null
R6694:Siae	UTSW	9	37,528,119 (GRCm39)	missense	probably damaging	1.00
R7183:Siae	UTSW	9	37,528,242 (GRCm39)	missense	possibly damaging	0.77
R7266:Siae	UTSW	9	37,534,309 (GRCm39)	missense	probably damaging	0.98
R7821:Siae	UTSW	9	37,556,196 (GRCm39)	missense	probably damaging	1.00
R7932:Siae	UTSW	9	37,544,980 (GRCm39)	missense	probably benign	0.12
R8312:Siae	UTSW	9	37,557,593 (GRCm39)	missense
R8377:Siae	UTSW	9	37,542,901 (GRCm39)	critical splice donor site	probably null
R8868:Siae	UTSW	9	37,528,132 (GRCm39)	missense	probably damaging	1.00
R9014:Siae	UTSW	9	37,557,639 (GRCm39)	missense	possibly damaging	0.74
R9198:Siae	UTSW	9	37,539,105 (GRCm39)	missense	probably benign	0.05
R9447:Siae	UTSW	9	37,557,743 (GRCm39)	missense	probably benign	0.08
Z1176:Siae	UTSW	9	37,542,765 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTTGTACCATGCTTGCTGAAG -3'
(R):5'- ACAAATGTTGGGCTGCAAATCC -3'

Sequencing Primer
(F):5'- TGAAGCCTCTGACACCTGAG -3'
(R):5'- GGGCTGCAAATCCCAGTACAG -3'

Posted On

2019-11-12