Mutagenetix > Incidental Mutation

Incidental Mutation 'R8868:Siae'

676089

Institutional Source

Beutler Lab

Gene Symbol

Siae

Ensembl Gene

ENSMUSG00000001942

Gene Name

sialic acid acetylesterase

Synonyms

LSE, clone 165, Ysg2

MMRRC Submission

068683-MU

Accession Numbers

Essential gene?

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

Stock #

R8868 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37525117-37559554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37528132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 35 (Y35C)

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

probably benign
Transcript: ENSMUST00000213126

Predicted Effect

probably benign
Transcript: ENSMUST00000214786

Predicted Effect

probably damaging
Transcript: ENSMUST00000215474
AA Change: Y35C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000215829

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	T	A	9: 26,890,544 (GRCm39)	N255Y	probably damaging	Het
Accsl	A	C	2: 93,696,490 (GRCm39)	L36R	probably benign	Het
Acvr2a	T	A	2: 48,763,469 (GRCm39)	V171E	probably benign	Het
Adgrl3	A	G	5: 81,794,451 (GRCm39)	I491V	probably benign	Het
Ak9	G	A	10: 41,193,842 (GRCm39)		probably null	Het
Ak9	G	T	10: 41,258,869 (GRCm39)	E789*	probably null	Het
Akr1c19	T	A	13: 4,293,070 (GRCm39)	N275K	probably benign	Het
Alg1	A	G	16: 5,061,557 (GRCm39)	H398R	probably benign	Het
Apol11a	T	A	15: 77,401,209 (GRCm39)	I232N	probably damaging	Het
Cacnb2	A	G	2: 14,989,080 (GRCm39)	I437V	probably benign	Het
Catsper4	A	G	4: 133,954,417 (GRCm39)		probably null	Het
Cdhr17	G	A	5: 17,028,152 (GRCm39)	G449D	probably benign	Het
Crnn	T	C	3: 93,055,609 (GRCm39)	C132R	probably benign	Het
Cyp4a14	T	A	4: 115,348,553 (GRCm39)	H337L	probably damaging	Het
Dcdc2a	C	T	13: 25,386,266 (GRCm39)	A380V	probably benign	Het
Dclre1b	T	C	3: 103,710,654 (GRCm39)	N419S	probably benign	Het
Dip2c	A	G	13: 9,625,503 (GRCm39)	D621G	possibly damaging	Het
Dmwd	T	A	7: 18,814,694 (GRCm39)	L448Q	probably damaging	Het
Dnajc13	G	A	9: 104,042,987 (GRCm39)	H1922Y	probably benign	Het
E2f3	A	T	13: 30,095,301 (GRCm39)	I329N	probably damaging	Het
Eml2	G	A	7: 18,927,988 (GRCm39)	V266M	probably benign	Het
Entpd2	A	G	2: 25,289,725 (GRCm39)	T376A	probably benign	Het
Flnb	A	G	14: 7,908,671 (GRCm38)	T1350A	probably benign	Het
Fmnl2	A	G	2: 53,016,077 (GRCm39)	E999G	unknown	Het
Hivep1	A	G	13: 42,312,407 (GRCm39)	Q1549R	possibly damaging	Het
Hps6	G	A	19: 45,992,446 (GRCm39)	V128M	possibly damaging	Het
Ifi27l2a	T	C	12: 103,402,899 (GRCm39)	S66P	possibly damaging	Het
Ikbip	T	C	10: 90,932,187 (GRCm39)	V277A	possibly damaging	Het
Ints8	T	C	4: 11,230,488 (GRCm39)	E451G	probably benign	Het
Itih2	A	T	2: 10,132,600 (GRCm39)	S64T	probably benign	Het
Kcnc4	T	A	3: 107,355,452 (GRCm39)	E332V	probably damaging	Het
Krt23	T	C	11: 99,374,567 (GRCm39)		probably benign	Het
Lrpprc	C	A	17: 85,078,920 (GRCm39)	G265C	probably damaging	Het
Nav1	G	T	1: 135,512,943 (GRCm39)	A39E	probably benign	Het
Ogfod1	G	T	8: 94,773,906 (GRCm39)	D103Y	probably damaging	Het
Or7g20	T	G	9: 18,946,778 (GRCm39)	Y120D	probably damaging	Het
Or8b55	G	A	9: 38,727,285 (GRCm39)	C162Y	probably damaging	Het
Or8g37	A	G	9: 39,731,252 (GRCm39)	T106A	probably benign	Het
Ppp1r3a	A	T	6: 14,755,014 (GRCm39)	S78T	probably damaging	Het
Rnf148	A	T	6: 23,654,540 (GRCm39)	V152E	probably damaging	Het
Sdf2	A	T	11: 78,136,970 (GRCm39)	H50L	probably damaging	Het
Sec1	T	A	7: 45,328,700 (GRCm39)	M116L	probably benign	Het
Sema6d	T	C	2: 124,496,114 (GRCm39)	S53P	probably damaging	Het
Slc18b1	A	T	10: 23,686,751 (GRCm39)	Y189F	probably damaging	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	probably damaging	Het
Spef2	T	C	15: 9,729,747 (GRCm39)	T124A	possibly damaging	Het
Strn4	G	A	7: 16,560,570 (GRCm39)	E241K	probably benign	Het
Svep1	A	G	4: 58,135,578 (GRCm39)	I510T	possibly damaging	Het
Svop	T	C	5: 114,170,854 (GRCm39)	D395G	probably damaging	Het
Tbc1d14	A	C	5: 36,728,888 (GRCm39)	S159R	probably damaging	Het
Tex50	T	A	1: 160,984,848 (GRCm39)	I131F	possibly damaging	Het
Tssk1	A	G	16: 17,712,884 (GRCm39)	K223R	probably benign	Het
Ttc3	A	G	16: 94,252,002 (GRCm39)	I1565V	probably benign	Het
Ttn	A	T	2: 76,541,938 (GRCm39)	F33683I	possibly damaging	Het
Ttn	T	C	2: 76,783,470 (GRCm39)	M887V	unknown	Het
Usp45	G	A	4: 21,815,399 (GRCm39)		probably null	Het
Wdr47	C	T	3: 108,498,841 (GRCm39)		probably benign	Het
Xirp1	A	G	9: 119,846,871 (GRCm39)	S671P	probably benign	Het
Zbtb18	A	G	1: 177,274,682 (GRCm39)	D5G	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp260	T	G	7: 29,804,914 (GRCm39)	Y271*	probably null	Het
Zfp369	T	A	13: 65,445,082 (GRCm39)	S742T	possibly damaging	Het
Zfp786	A	T	6: 47,802,015 (GRCm39)	D87E	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
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
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'- AGGGTTGGCCAAGAACTGTG -3'
(R):5'- CATTTTCAGATAATCCAGCAGGTG -3'

Sequencing Primer
(F):5'- TTTAATCTGGAGCAACTGGACCCG -3'
(R):5'- TGGCAGAAGAGGACAATAACTGAAC -3'

Posted On

2021-07-15