Mutagenetix > Incidental Mutation

Incidental Mutation 'R7183:Siae'

559117

Institutional Source

Beutler Lab

Gene Symbol

Siae

Ensembl Gene

ENSMUSG00000001942

Gene Name

sialic acid acetylesterase

Synonyms

LSE, clone 165, Ysg2

MMRRC Submission

045235-MU

Accession Numbers

Essential gene?

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

Stock #

R7183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37525117-37559554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37528242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 72 (V72M)

Ref Sequence

ENSEMBL: ENSMUSP00000149505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002007] [ENSMUST00000002013] [ENSMUST00000213126] [ENSMUST00000214786] [ENSMUST00000215474] [ENSMUST00000215829]

AlphaFold

P70665

Predicted Effect

probably benign
Transcript: ENSMUST00000002007

SMART Domains

Protein: ENSMUSP00000002007
Gene: ENSMUSG00000001942

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

Predicted Effect

probably benign
Transcript: ENSMUST00000002013

SMART Domains

Protein: ENSMUSP00000002013
Gene: ENSMUSG00000001948

Domain	Start	End	E-Value	Type
RIIa	14	51	7.04e-15	SMART
low complexity region	75	86	N/A	INTRINSIC
IQ	111	133	7.4e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213126
AA Change: V37M

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000214786

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215474
AA Change: V72M

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215829
AA Change: V37M

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,215,706 (GRCm39)	M816L	possibly damaging	Het
Ahnak	T	C	19: 8,995,032 (GRCm39)	F5439L	probably damaging	Het
Apba2	G	A	7: 64,383,293 (GRCm39)	D369N	probably benign	Het
Arhgap32	A	G	9: 32,097,679 (GRCm39)	N228D	probably benign	Het
Arhgap33	T	A	7: 30,225,296 (GRCm39)		probably null	Het
Cacna1g	C	T	11: 94,330,563 (GRCm39)	C984Y	probably benign	Het
Cadm2	C	A	16: 66,679,720 (GRCm39)	G47*	probably null	Het
Ccdc125	A	G	13: 100,826,866 (GRCm39)	D241G	possibly damaging	Het
Ccdc39	T	G	3: 33,868,620 (GRCm39)	E822A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdc42bpg	A	G	19: 6,360,827 (GRCm39)	D195G	probably damaging	Het
Cdkl1	T	C	12: 69,795,706 (GRCm39)	R275G	probably damaging	Het
Chst4	T	C	8: 110,756,630 (GRCm39)	N411S	possibly damaging	Het
Cir1	A	G	2: 73,116,730 (GRCm39)	V210A	probably damaging	Het
Col6a1	A	G	10: 76,552,093 (GRCm39)		probably null	Het
Crmp1	C	A	5: 37,446,161 (GRCm39)	H606N	probably benign	Het
Cyp2j8	A	T	4: 96,367,418 (GRCm39)	N233K	probably damaging	Het
Dennd1b	A	T	1: 139,097,990 (GRCm39)	Q677L	unknown	Het
Dnah17	G	A	11: 118,020,014 (GRCm39)	T11I	probably benign	Het
Ehd1	A	G	19: 6,347,684 (GRCm39)	H346R	probably benign	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Emc3	G	T	6: 113,508,345 (GRCm39)	Y33*	probably null	Het
Ercc5	A	T	1: 44,200,968 (GRCm39)		probably null	Het
Ercc5	G	T	1: 44,200,969 (GRCm39)		probably null	Het
Fat3	A	C	9: 15,834,133 (GRCm39)	I4153S	possibly damaging	Het
Fn3krp	T	C	11: 121,312,431 (GRCm39)		probably null	Het
Gmnc	C	T	16: 26,779,279 (GRCm39)	D249N	probably benign	Het
Gsn	C	T	2: 35,184,960 (GRCm39)	A305V	probably benign	Het
Haus6	A	T	4: 86,501,989 (GRCm39)	H627Q	possibly damaging	Het
Heg1	A	G	16: 33,558,920 (GRCm39)		probably null	Het
Hoxd9	G	T	2: 74,528,709 (GRCm39)	V104L	possibly damaging	Het
Igkv10-96	A	C	6: 68,609,200 (GRCm39)	S32A	probably benign	Het
Kcnd2	G	A	6: 21,216,436 (GRCm39)	V47M	probably damaging	Het
Mab21l3	C	T	3: 101,722,469 (GRCm39)	V386M	probably damaging	Het
Masp2	A	G	4: 148,696,614 (GRCm39)	S404G	probably benign	Het
Or5b102	A	G	19: 13,041,680 (GRCm39)	I302V	probably benign	Het
Or5m12	T	A	2: 85,734,486 (GRCm39)	Q304L	probably benign	Het
Or7g20	G	T	9: 18,946,628 (GRCm39)	D70Y	probably damaging	Het
P4htm	A	T	9: 108,459,059 (GRCm39)	M291K	possibly damaging	Het
Pde6c	T	C	19: 38,121,538 (GRCm39)	S49P	probably benign	Het
Pdzd7	A	G	19: 45,025,553 (GRCm39)	V314A	probably benign	Het
Pfkl	G	A	10: 77,837,916 (GRCm39)	R31*	probably null	Het
Phlpp2	C	A	8: 110,666,585 (GRCm39)	P1038Q	probably damaging	Het
Pik3c2b	T	C	1: 132,994,203 (GRCm39)	S56P	probably benign	Het
Plec	A	G	15: 76,089,905 (GRCm39)	V145A	unknown	Het
Prg3	G	A	2: 84,821,848 (GRCm39)	V158I	probably benign	Het
Prg3	G	T	2: 84,823,367 (GRCm39)	D181Y	probably damaging	Het
Rbp3	A	G	14: 33,677,161 (GRCm39)	T370A	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rubcnl	T	A	14: 75,287,066 (GRCm39)	M578K	probably damaging	Het
Smchd1	A	T	17: 71,660,511 (GRCm39)	D1864E	probably benign	Het
Smox	T	C	2: 131,362,486 (GRCm39)	I255T	possibly damaging	Het
Spata31e2	G	A	1: 26,721,914 (GRCm39)	L1089F	probably benign	Het
Tas2r123	A	G	6: 132,824,661 (GRCm39)	N186S	possibly damaging	Het
Thbs2	T	A	17: 14,910,378 (GRCm39)	I74F	possibly damaging	Het
Timm44	T	C	8: 4,317,311 (GRCm39)	D238G	probably damaging	Het
Tlk2	T	C	11: 105,112,185 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,931,365 (GRCm39)	S782P	probably damaging	Het
Tpr	A	T	1: 150,282,302 (GRCm39)	K336N	probably damaging	Het
Uggt2	A	T	14: 119,257,049 (GRCm39)		probably null	Het
Vmn2r101	T	A	17: 19,832,440 (GRCm39)	I812N	probably damaging	Het
Vps33a	T	C	5: 123,673,278 (GRCm39)	Q436R	probably null	Het
Ywhaq	T	C	12: 21,466,870 (GRCm39)	K75E	possibly damaging	Het
Zfp87	A	G	13: 67,665,593 (GRCm39)	S290P	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
R7266:Siae	UTSW	9	37,534,309 (GRCm39)	missense	probably damaging	0.98
R7697:Siae	UTSW	9	37,544,950 (GRCm39)	missense	probably damaging	1.00
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'- TACCGGATCCACATGATGCTG -3'
(R):5'- TGTGGTATCTTTAGTGTTTACCCAC -3'

Sequencing Primer
(F):5'- GGATCCACATGATGCTGAATCTC -3'
(R):5'- CAAATAACTCTTATGGATGGATGGG -3'

Posted On

2019-06-26