Mutagenetix > Incidental Mutation

Incidental Mutation 'R8312:Siae'

641455

Institutional Source

Beutler Lab

Gene Symbol

Siae

Ensembl Gene

ENSMUSG00000001942

Gene Name

sialic acid acetylesterase

Synonyms

LSE, clone 165, Ysg2

MMRRC Submission

067718-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8312 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37555698-37649655 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37646297 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 467 (I467F)

Ref Sequence

ENSEMBL: ENSMUSP00000002007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002007] [ENSMUST00000117654]

AlphaFold

P70665

Predicted Effect

SMART Domains

Protein: ENSMUSP00000002007
Gene: ENSMUSG00000001942
AA Change: I467F

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: ENSMUST00000117654

SMART Domains

Protein: ENSMUSP00000112600
Gene: ENSMUSG00000011114

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
coiled coil region	56	79	N/A	INTRINSIC
low complexity region	90	104	N/A	INTRINSIC
low complexity region	124	156	N/A	INTRINSIC
FYRN	192	235	1.05e-18	SMART
Pfam:FYRC	238	316	1.4e-23	PFAM
low complexity region	349	354	N/A	INTRINSIC

Meta Mutation Damage Score

0.1463

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	C	12: 84,615,416	R23G	probably damaging	Het
Abraxas2	A	G	7: 132,876,600	Y163C	probably damaging	Het
Acnat1	A	T	4: 49,449,142	L208*	probably null	Het
Agbl5	A	G	5: 30,894,506	E556G	probably damaging	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Arih2	A	G	9: 108,644,274	S2P	probably damaging	Het
C87436	T	A	6: 86,457,831	L387Q	probably damaging	Het
Card9	A	T	2: 26,357,789	Y183*	probably null	Het
Cdk14	T	C	5: 4,894,141	D394G	probably benign	Het
Cep135	C	T	5: 76,636,899	S947L	probably damaging	Het
Cfb	T	C	17: 34,858,145	K505E	probably benign	Het
Cnot4	T	A	6: 35,023,141	D708V	probably damaging	Het
Col16a1	T	A	4: 130,054,451	L281M	unknown	Het
Col6a3	G	T	1: 90,813,690	D673E	possibly damaging	Het
Ctdnep1	G	A	11: 69,988,701	S150N	probably benign	Het
Fanca	T	A	8: 123,269,810		probably benign	Het
Fras1	T	A	5: 96,588,191	N548K	probably benign	Het
Gbp2b	A	G	3: 142,599,051	M83V	probably benign	Het
Gbp2b	C	A	3: 142,599,054	P84T	probably damaging	Het
Gli2	A	T	1: 118,868,112		probably benign	Het
Greb1l	A	G	18: 10,511,587		probably benign	Het
Grn	A	C	11: 102,436,247	K557T	probably damaging	Het
Hapln1	C	T	13: 89,601,444	A36V	probably benign	Het
Heg1	C	T	16: 33,726,675	R635W	probably benign	Het
Hivep1	C	A	13: 42,155,177	Q298K	possibly damaging	Het
Hmcn1	A	G	1: 150,738,764	I1297T	probably damaging	Het
Hp1bp3	T	A	4: 138,223,439		probably benign	Het
Htr4	C	G	18: 62,437,478	F201L	probably damaging	Het
Insrr	C	G	3: 87,800,484	Q78E	possibly damaging	Het
Itga6	A	T	2: 71,855,953	M1072L	probably benign	Het
Kdsr	A	G	1: 106,747,486		probably null	Het
Klhl7	T	C	5: 24,134,967	I149T	probably damaging	Het
Lce1l	G	C	3: 92,850,459	P31A	unknown	Het
Mag	T	C	7: 30,911,469	Y116C	probably damaging	Het
Mast2	A	G	4: 116,430,486	S131P	probably benign	Het
Mlec	C	A	5: 115,150,207		probably null	Het
Mrap2	G	A	9: 87,169,659		probably null	Het
Myo5b	A	G	18: 74,733,962	K1395E	probably damaging	Het
Nipa2	G	A	7: 55,933,302	Q232*	probably null	Het
Nsd3	C	T	8: 25,663,252	T536M	probably damaging	Het
Oit3	T	C	10: 59,438,810	N56S	probably benign	Het
Olfr155	A	T	4: 43,854,461	I51F	probably benign	Het
Olfr165	T	C	16: 19,407,237	M260V	probably benign	Het
Olfr9	A	G	10: 128,990,478	T189A	probably benign	Het
Pax3	C	T	1: 78,195,369	R68Q	probably damaging	Het
Pcnx2	G	T	8: 125,762,850	H1668Q	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pkd1	A	G	17: 24,567,128	S463G	probably benign	Het
Plb1	C	T	5: 32,328,485	T871M	probably damaging	Het
Prdx1	A	G	4: 116,699,201	D182G	possibly damaging	Het
Prkch	T	A	12: 73,760,584	F593I	noncoding transcript	Het
Psrc1	C	T	3: 108,386,357	P194L	probably benign	Het
Ptp4a2	A	T	4: 129,839,634	I18L	probably benign	Het
Samd10	A	T	2: 181,596,875	L153H	probably damaging	Het
Shc3	T	G	13: 51,442,718	H423P	probably damaging	Het
Slc27a5	C	T	7: 12,991,287	R411Q	probably damaging	Het
Spata24	A	G	18: 35,660,808	I56T	probably benign	Het
Spns3	G	A	11: 72,499,708	T407M	probably damaging	Het
Spta1	G	A	1: 174,240,211	C2068Y	probably damaging	Het
Svs2	C	A	2: 164,238,171	G25W	probably damaging	Het
Thsd7a	T	C	6: 12,471,182	D479G		Het
Trhde	T	C	10: 114,413,287	Y858C	probably damaging	Het
Ttn	G	A	2: 76,951,648	R1057C	unknown	Het
Tulp4	G	T	17: 6,207,058		probably null	Het
Tyk2	T	C	9: 21,115,649	T613A	possibly damaging	Het
Ugt2b37	T	C	5: 87,242,940	K356R	probably benign	Het
Vmn1r39	A	G	6: 66,804,857	V159A	noncoding transcript	Het
Vps35	A	G	8: 85,274,869	V440A	possibly damaging	Het
Zmym6	A	G	4: 127,123,834	N1136S	probably damaging	Het

Other mutations in Siae

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Siae	APN	9	37631486	missense	probably damaging	0.98
IGL02696:Siae	APN	9	37631384	missense	probably damaging	1.00
BB009:Siae	UTSW	9	37633684	missense	probably benign	0.12
BB019:Siae	UTSW	9	37633684	missense	probably benign	0.12
R0531:Siae	UTSW	9	37627794	missense	probably benign	0.04
R1138:Siae	UTSW	9	37642692	missense	probably damaging	1.00
R1748:Siae	UTSW	9	37631606	critical splice donor site	probably null
R2175:Siae	UTSW	9	37627796	missense	probably damaging	1.00
R4301:Siae	UTSW	9	37633713	missense	possibly damaging	0.51
R4887:Siae	UTSW	9	37627800	missense	possibly damaging	0.93
R4989:Siae	UTSW	9	37646520	missense	possibly damaging	0.79
R5133:Siae	UTSW	9	37646520	missense	possibly damaging	0.79
R5134:Siae	UTSW	9	37646520	missense	possibly damaging	0.79
R5151:Siae	UTSW	9	37631573	missense	probably benign	0.02
R5242:Siae	UTSW	9	37644852	missense	probably damaging	1.00
R5459:Siae	UTSW	9	37616823	missense	probably damaging	1.00
R5571:Siae	UTSW	9	37616923	missense	probably benign	0.01
R6335:Siae	UTSW	9	37632981	missense	probably benign	0.03
R6552:Siae	UTSW	9	37646400	missense	possibly damaging	0.57
R6692:Siae	UTSW	9	37642799	critical splice donor site	probably null
R6694:Siae	UTSW	9	37616823	missense	probably damaging	1.00
R7183:Siae	UTSW	9	37616946	missense	possibly damaging	0.77
R7266:Siae	UTSW	9	37623013	missense	probably damaging	0.98
R7697:Siae	UTSW	9	37633654	missense	probably damaging	1.00
R7821:Siae	UTSW	9	37644900	missense	probably damaging	1.00
R7932:Siae	UTSW	9	37633684	missense	probably benign	0.12
R8377:Siae	UTSW	9	37631605	critical splice donor site	probably null
R8868:Siae	UTSW	9	37616836	missense	probably damaging	1.00
R9014:Siae	UTSW	9	37646343	missense	possibly damaging	0.74
R9198:Siae	UTSW	9	37627809	missense	probably benign	0.05
R9447:Siae	UTSW	9	37646447	missense	probably benign	0.08
Z1176:Siae	UTSW	9	37631469	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CACTAGGCATGTGTTCTTCCAAG -3'
(R):5'- GTGTGGTAAACAGCACATTGC -3'

Sequencing Primer
(F):5'- GGCATGTGTTCTTCCAAGCTATTATC -3'
(R):5'- GCACATTGCTTATATTCACAAGGCC -3'

Posted On

2020-07-28