Mutagenetix > Incidental Mutation

Incidental Mutation 'R9198:Siae'

698052

Institutional Source

Beutler Lab

Gene Symbol

Siae

Ensembl Gene

ENSMUSG00000001942

Gene Name

sialic acid acetylesterase

Synonyms

LSE, clone 165, Ysg2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R9198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37555698-37649655 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37627809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 172 (V172A)

Ref Sequence

ENSEMBL: ENSMUSP00000149505 (fasta)

Gene Model

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

AlphaFold

P70665

Predicted Effect

probably benign
Transcript: ENSMUST00000002007
AA Change: V100A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000002007
Gene: ENSMUSG00000001942
AA Change: V100A

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: ENSMUST00000213126
AA Change: V137A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000215474
AA Change: V172A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000215829

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

97% (61/63)

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
Adam22	A	G	5: 8,117,583 (GRCm38)		probably null	Het
Adamts9	A	T	6: 92,860,189 (GRCm38)	S1164T	probably benign	Het
Bcat1	A	T	6: 145,039,496 (GRCm38)	I140N	probably damaging	Het
Bod1l	T	C	5: 41,799,786 (GRCm38)	T2832A	probably benign	Het
Brca2	A	T	5: 150,536,512 (GRCm38)	E417D	possibly damaging	Het
Ccdc88b	T	C	19: 6,855,845 (GRCm38)	E278G	probably damaging	Het
Ccdc88b	T	C	19: 6,853,900 (GRCm38)	D558G	possibly damaging	Het
Celsr1	G	T	15: 86,033,085 (GRCm38)	S229*	probably null	Het
Cenpf	G	T	1: 189,656,790 (GRCm38)	T1615K	probably damaging	Het
Cep250	T	C	2: 155,988,434 (GRCm38)		probably null	Het
Clec4d	T	C	6: 123,274,798 (GRCm38)	F213S	probably damaging	Het
Clip4	G	A	17: 71,810,889 (GRCm38)	G310R	probably damaging	Het
Csmd1	G	A	8: 15,912,430 (GRCm38)	R3255W	probably damaging	Het
Ctsm	T	C	13: 61,539,798 (GRCm38)	D82G	probably damaging	Het
Cyp26a1	A	G	19: 37,698,342 (GRCm38)	T81A	probably damaging	Het
Dld	A	G	12: 31,340,886 (GRCm38)	V187A	probably benign	Het
Dmrt2	T	A	19: 25,678,113 (GRCm38)	Y359N	probably benign	Het
Dnah9	T	C	11: 65,955,744 (GRCm38)	N2914S	probably benign	Het
Dpyd	A	T	3: 118,759,654 (GRCm38)		probably null	Het
Fgl2	A	C	5: 21,372,922 (GRCm38)	Q69P	probably damaging	Het
Gadd45gip1	A	T	8: 84,834,151 (GRCm38)	I132F	probably damaging	Het
Gm15446	T	C	5: 109,942,877 (GRCm38)	C332R	probably damaging	Het
Gm15737	A	T	6: 92,879,659 (GRCm38)	E23V	unknown	Het
Gm5111	A	G	6: 48,590,103 (GRCm38)	H84R	unknown	Het
Golga3	G	A	5: 110,207,753 (GRCm38)	S991N	probably benign	Het
H2-M10.3	A	G	17: 36,368,027 (GRCm38)	Y50H	probably damaging	Het
Hivep2	C	T	10: 14,129,877 (GRCm38)	H740Y	probably benign	Het
Il18rap	C	T	1: 40,543,017 (GRCm38)	T366M	probably benign	Het
Ints7	T	A	1: 191,619,760 (GRCm38)	S860R	probably benign	Het
Lipi	T	A	16: 75,565,573 (GRCm38)	T217S	possibly damaging	Het
Lrrc2	G	T	9: 110,962,654 (GRCm38)	C158F	probably benign	Het
Lrrc30	T	C	17: 67,631,859 (GRCm38)	D242G	probably benign	Het
Map1a	A	T	2: 121,303,373 (GRCm38)	M1557L	probably benign	Het
Matn2	A	G	15: 34,423,778 (GRCm38)	E594G	probably damaging	Het
Mfsd12	T	C	10: 81,362,710 (GRCm38)	L345P	probably damaging	Het
Mmp24	A	G	2: 155,798,121 (GRCm38)	R124G	probably benign	Het
Ngef	T	A	1: 87,479,075 (GRCm38)	H240L	unknown	Het
Nmur1	T	G	1: 86,387,534 (GRCm38)	D203A	probably benign	Het
Nt5c3	T	C	6: 56,882,970 (GRCm38)	Q328R	probably benign	Het
Ogfr	T	C	2: 180,591,057 (GRCm38)		probably null	Het
Olfr187	A	G	16: 59,035,900 (GRCm38)	V279A	probably benign	Het
Olfr655	T	A	7: 104,596,428 (GRCm38)	Y251F	probably damaging	Het
Olfr728	A	T	14: 50,140,533 (GRCm38)	Y35*	probably null	Het
Osbpl10	G	A	9: 115,232,143 (GRCm38)	W588*	probably null	Het
Pask	A	T	1: 93,337,483 (GRCm38)	S17T	possibly damaging	Het
Pfkfb3	C	T	2: 11,486,273 (GRCm38)	R170K	probably damaging	Het
Plec	A	G	15: 76,185,737 (GRCm38)	C960R	unknown	Het
Pramef6	T	A	4: 143,897,076 (GRCm38)	N176I	probably benign	Het
R3hdm2	T	G	10: 127,457,652 (GRCm38)	S142A	probably damaging	Het
Rfx7	T	C	9: 72,616,881 (GRCm38)	L451P	probably damaging	Het
Rimbp2	T	A	5: 128,806,488 (GRCm38)	E76V	probably damaging	Het
Rock2	A	G	12: 16,965,556 (GRCm38)	N818S	probably benign	Het
Ryk	A	T	9: 102,881,655 (GRCm38)	I248F	possibly damaging	Het
Setd2	A	G	9: 110,549,100 (GRCm38)	Q661R	possibly damaging	Het
Slc35f4	A	G	14: 49,318,920 (GRCm38)	S9P	unknown	Het
Smg1	T	C	7: 118,195,956 (GRCm38)	E456G	unknown	Het
Srgap3	C	T	6: 112,766,904 (GRCm38)	A458T	probably damaging	Het
Tgfbrap1	T	A	1: 43,054,639 (GRCm38)	R564S	probably damaging	Het
Usp15	A	G	10: 123,168,238 (GRCm38)	Y204H	probably damaging	Het
Usp35	A	G	7: 97,313,069 (GRCm38)	Y527H	probably damaging	Het
Usp8	T	A	2: 126,758,604 (GRCm38)	*1092K	probably null	Het
Vmn2r73	A	T	7: 85,869,779 (GRCm38)	M545K	probably benign	Het
Ylpm1	A	T	12: 85,033,915 (GRCm38)		probably null	Het
Zscan22	G	T	7: 12,907,203 (GRCm38)	R458L	probably damaging	Het

Other mutations in Siae

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Siae	APN	9	37,631,486 (GRCm38)	missense	probably damaging	0.98
IGL02696:Siae	APN	9	37,631,384 (GRCm38)	missense	probably damaging	1.00
BB009:Siae	UTSW	9	37,633,684 (GRCm38)	missense	probably benign	0.12
BB019:Siae	UTSW	9	37,633,684 (GRCm38)	missense	probably benign	0.12
R0531:Siae	UTSW	9	37,627,794 (GRCm38)	missense	probably benign	0.04
R1138:Siae	UTSW	9	37,642,692 (GRCm38)	missense	probably damaging	1.00
R1748:Siae	UTSW	9	37,631,606 (GRCm38)	critical splice donor site	probably null
R2175:Siae	UTSW	9	37,627,796 (GRCm38)	missense	probably damaging	1.00
R4301:Siae	UTSW	9	37,633,713 (GRCm38)	missense	possibly damaging	0.51
R4887:Siae	UTSW	9	37,627,800 (GRCm38)	missense	possibly damaging	0.93
R4989:Siae	UTSW	9	37,646,520 (GRCm38)	missense	possibly damaging	0.79
R5133:Siae	UTSW	9	37,646,520 (GRCm38)	missense	possibly damaging	0.79
R5134:Siae	UTSW	9	37,646,520 (GRCm38)	missense	possibly damaging	0.79
R5151:Siae	UTSW	9	37,631,573 (GRCm38)	missense	probably benign	0.02
R5242:Siae	UTSW	9	37,644,852 (GRCm38)	missense	probably damaging	1.00
R5459:Siae	UTSW	9	37,616,823 (GRCm38)	missense	probably damaging	1.00
R5571:Siae	UTSW	9	37,616,923 (GRCm38)	missense	probably benign	0.01
R6335:Siae	UTSW	9	37,632,981 (GRCm38)	missense	probably benign	0.03
R6552:Siae	UTSW	9	37,646,400 (GRCm38)	missense	possibly damaging	0.57
R6692:Siae	UTSW	9	37,642,799 (GRCm38)	critical splice donor site	probably null
R6694:Siae	UTSW	9	37,616,823 (GRCm38)	missense	probably damaging	1.00
R7183:Siae	UTSW	9	37,616,946 (GRCm38)	missense	possibly damaging	0.77
R7266:Siae	UTSW	9	37,623,013 (GRCm38)	missense	probably damaging	0.98
R7697:Siae	UTSW	9	37,633,654 (GRCm38)	missense	probably damaging	1.00
R7821:Siae	UTSW	9	37,644,900 (GRCm38)	missense	probably damaging	1.00
R7932:Siae	UTSW	9	37,633,684 (GRCm38)	missense	probably benign	0.12
R8312:Siae	UTSW	9	37,646,297 (GRCm38)	missense
R8377:Siae	UTSW	9	37,631,605 (GRCm38)	critical splice donor site	probably null
R8868:Siae	UTSW	9	37,616,836 (GRCm38)	missense	probably damaging	1.00
R9014:Siae	UTSW	9	37,646,343 (GRCm38)	missense	possibly damaging	0.74
R9447:Siae	UTSW	9	37,646,447 (GRCm38)	missense	probably benign	0.08
Z1176:Siae	UTSW	9	37,631,469 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GTACTGAGAAGCTGCAAGGC -3'
(R):5'- CTGAACTCAGTGGAGAAGATTCAG -3'

Sequencing Primer
(F):5'- GCAAGGCAGTTTAACCTCTTTCAG -3'
(R):5'- AGAAGATTCAGGCTGGGTTC -3'

Posted On

2022-02-07