Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01734:Siae'

105612

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01734

Quality Score

Status

Chromosome

Chromosomal Location

37525117-37559554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37542782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 193 (S193T)

Ref Sequence

ENSEMBL: ENSMUSP00000150641 (fasta)

Gene Model

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

AlphaFold

P70665

Predicted Effect

probably damaging
Transcript: ENSMUST00000002007
AA Change: S156T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002007
Gene: ENSMUSG00000001942
AA Change: S156T

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: S193T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215474
AA Change: S228T

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000215829

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217567

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932442E05Rik	T	A	10: 118,697,371 (GRCm39)	W210R	possibly damaging	Het
Aknad1	T	C	3: 108,659,217 (GRCm39)	M77T	probably benign	Het
Aox1	A	T	1: 58,393,469 (GRCm39)	I1210F	possibly damaging	Het
Brd8	A	T	18: 34,747,858 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,139,292 (GRCm39)	D3307G	probably benign	Het
Chsy1	T	C	7: 65,821,058 (GRCm39)	I431T	probably damaging	Het
Cobl	A	G	11: 12,204,980 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,158,134 (GRCm39)	D308G	probably damaging	Het
Csmd3	A	G	15: 48,048,700 (GRCm39)	Y568H	probably damaging	Het
Dmrt3	T	C	19: 25,599,947 (GRCm39)	I264T	probably damaging	Het
Dusp22	G	T	13: 30,880,235 (GRCm39)	C52F	probably damaging	Het
Fbxw22	A	C	9: 109,212,993 (GRCm39)	M318R	probably damaging	Het
Ffar4	C	T	19: 38,102,295 (GRCm39)	T310M	probably damaging	Het
Fn1	A	G	1: 71,658,644 (GRCm39)	V1138A	probably damaging	Het
Glt6d1	T	A	2: 25,684,505 (GRCm39)	Y167F	probably benign	Het
Hydin	T	A	8: 111,217,421 (GRCm39)	Y1436*	probably null	Het
Il12a	G	A	3: 68,598,888 (GRCm39)	C2Y	possibly damaging	Het
Inpp5a	T	C	7: 139,034,006 (GRCm39)	Y38H	possibly damaging	Het
Jmy	A	C	13: 93,596,159 (GRCm39)	L490R	probably damaging	Het
Kif26a	T	A	12: 112,143,262 (GRCm39)	L1172H	probably benign	Het
Kmo	A	T	1: 175,482,668 (GRCm39)	M331L	probably benign	Het
Lonp1	G	A	17: 56,923,026 (GRCm39)	T627M	probably damaging	Het
Lrrc41	T	C	4: 115,950,331 (GRCm39)		probably null	Het
Mast4	A	T	13: 102,874,123 (GRCm39)	S1556R	probably damaging	Het
Mmel1	A	G	4: 154,976,408 (GRCm39)	N490S	probably benign	Het
Mpped2	A	G	2: 106,614,158 (GRCm39)	D164G	probably damaging	Het
Nap1l1	A	G	10: 111,328,760 (GRCm39)	T230A	probably benign	Het
Nrap	C	A	19: 56,338,741 (GRCm39)	A913S	probably damaging	Het
Nudt16	G	T	9: 105,008,707 (GRCm39)	Q65K	probably benign	Het
Or1e23	C	A	11: 73,407,462 (GRCm39)	A188S	probably benign	Het
Or5ac17	T	G	16: 59,036,792 (GRCm39)	L61F	probably benign	Het
Or5ac19	T	A	16: 59,089,213 (GRCm39)	K272N	probably benign	Het
Or5al5	T	A	2: 85,962,012 (GRCm39)		probably benign	Het
Or6c76b	T	A	10: 129,692,671 (GRCm39)	C95S	probably benign	Het
Parp14	A	G	16: 35,678,970 (GRCm39)	F333L	probably benign	Het
Pi4ka	G	T	16: 17,115,124 (GRCm39)	Q1422K	probably benign	Het
Polr3c	T	C	3: 96,620,836 (GRCm39)	E494G	probably damaging	Het
Prss42	C	A	9: 110,627,411 (GRCm39)	P49Q	probably benign	Het
Ptpra	C	T	2: 130,385,997 (GRCm39)	T568I	probably damaging	Het
Ring1	T	C	17: 34,242,294 (GRCm39)	D71G	probably damaging	Het
Slf2	T	C	19: 44,961,706 (GRCm39)		probably null	Het
Spinkl	T	A	18: 44,307,639 (GRCm39)	K7N	possibly damaging	Het
Tbk1	G	A	10: 121,407,888 (GRCm39)	R82*	probably null	Het
Tcf12	T	C	9: 71,829,930 (GRCm39)		probably null	Het
Tcl1b5	G	A	12: 105,145,214 (GRCm39)	M59I	probably benign	Het
Thumpd3	C	A	6: 113,043,806 (GRCm39)	T407K	probably damaging	Het
Timm29	T	C	9: 21,505,031 (GRCm39)	V233A	probably damaging	Het
Tns3	A	G	11: 8,469,192 (GRCm39)		probably benign	Het
Ubash3b	T	C	9: 40,937,543 (GRCm39)		probably benign	Het
Ugdh	G	T	5: 65,580,031 (GRCm39)	T253K	probably benign	Het
Zfp143	T	A	7: 109,671,416 (GRCm39)		probably benign	Het
Zfp738	A	G	13: 67,831,563 (GRCm39)		probably benign	Het

Other mutations in Siae

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-01-21