Mutagenetix > Incidental Mutation

Incidental Mutation 'R7821:Siae'

601875

Institutional Source

Beutler Lab

Gene Symbol

Siae

Ensembl Gene

ENSMUSG00000001942

Gene Name

sialic acid acetylesterase

Synonyms

LSE, clone 165, Ysg2

MMRRC Submission

045875-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37525117-37559554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37556196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 451 (Y451N)

Ref Sequence

ENSEMBL: ENSMUSP00000149505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002007] [ENSMUST00000117654] [ENSMUST00000142736] [ENSMUST00000213126] [ENSMUST00000215474]

AlphaFold

P70665

Predicted Effect

probably damaging
Transcript: ENSMUST00000002007
AA Change: Y379N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002007
Gene: ENSMUSG00000001942
AA Change: Y379N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142736

Predicted Effect

probably damaging
Transcript: ENSMUST00000213126
AA Change: Y416N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215474
AA Change: Y451N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,120,929 (GRCm39)	T112S	probably damaging	Het
Abca12	G	T	1: 71,298,950 (GRCm39)	S2320R	probably benign	Het
Abca7	TGGTGCGTGAG	TG	10: 79,838,424 (GRCm39)		probably benign	Het
Adh7	T	A	3: 137,932,136 (GRCm39)	I250N	probably damaging	Het
Albfm1	T	C	5: 90,740,747 (GRCm39)	V560A	possibly damaging	Het
Aoc1	T	A	6: 48,882,745 (GRCm39)	I229N	probably damaging	Het
C2cd6	A	T	1: 59,106,951 (GRCm39)	Y291*	probably null	Het
Cacnb4	T	C	2: 52,324,520 (GRCm39)	D514G	possibly damaging	Het
Ccdc202	A	G	14: 96,119,486 (GRCm39)	Q81R	possibly damaging	Het
Clec2g	A	G	6: 128,925,740 (GRCm39)	T50A	probably benign	Het
Col6a5	T	C	9: 105,741,458 (GRCm39)	E2487G	probably damaging	Het
D130040H23Rik	A	T	8: 69,752,887 (GRCm39)		probably null	Het
D6Ertd527e	G	A	6: 87,087,879 (GRCm39)	S14N	unknown	Het
Dchs1	G	A	7: 105,414,352 (GRCm39)	T821I	probably benign	Het
Dhcr24	T	C	4: 106,428,633 (GRCm39)	S138P	possibly damaging	Het
Dhrs9	G	A	2: 69,224,782 (GRCm39)	G157R	probably damaging	Het
Dnah5	T	A	15: 28,411,678 (GRCm39)	D3682E	possibly damaging	Het
Dst	T	C	1: 34,314,443 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,403,261 (GRCm39)	H4L	probably benign	Het
Flnb	A	G	14: 7,939,113 (GRCm38)	I2319V	probably benign	Het
Foxe1	T	C	4: 46,344,578 (GRCm39)	W129R	probably damaging	Het
Foxred2	G	A	15: 77,827,550 (GRCm39)	P603L	probably benign	Het
Fshr	A	G	17: 89,293,641 (GRCm39)	S346P	probably damaging	Het
Galnt2	T	A	8: 125,070,134 (GRCm39)	S550R	possibly damaging	Het
Gpc2	A	G	5: 138,274,559 (GRCm39)	S312P	probably benign	Het
Gpr150	C	A	13: 76,204,511 (GRCm39)	A145S	probably benign	Het
Grk4	T	A	5: 34,867,553 (GRCm39)	W173R	probably damaging	Het
Hoxb9	C	G	11: 96,162,537 (GRCm39)	P57R	probably damaging	Het
Hsf5	A	G	11: 87,528,954 (GRCm39)	Q563R	probably benign	Het
Ighv1-58	A	G	12: 115,275,796 (GRCm39)	F114S	possibly damaging	Het
Klra9	T	A	6: 130,162,563 (GRCm39)	I158F	probably damaging	Het
Lrrc8d	T	C	5: 105,960,210 (GRCm39)	S207P	probably damaging	Het
Nbeal2	T	C	9: 110,459,320 (GRCm39)	E1929G	probably damaging	Het
Ncoa1	A	G	12: 4,346,221 (GRCm39)	M89T	probably benign	Het
Nkx2-4	T	C	2: 146,927,208 (GRCm39)	I20V	probably benign	Het
Nup214	T	C	2: 31,916,917 (GRCm39)	S1191P	possibly damaging	Het
Or2n1d	A	G	17: 38,646,855 (GRCm39)	D269G	probably benign	Het
Pfkp	T	A	13: 6,647,908 (GRCm39)	N556I	probably damaging	Het
Pidd1	A	T	7: 141,022,193 (GRCm39)	S199T	probably benign	Het
Pik3r2	T	A	8: 71,222,408 (GRCm39)	I515F	probably damaging	Het
Plcxd2	T	A	16: 45,785,524 (GRCm39)	I294F	probably damaging	Het
Prmt6	C	A	3: 110,158,303 (GRCm39)		probably benign	Het
Prpf8	A	G	11: 75,385,300 (GRCm39)	I812V	probably benign	Het
Rasa2	T	C	9: 96,462,537 (GRCm39)		probably null	Het
Rsad1	A	C	11: 94,435,288 (GRCm39)	D266E	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Shroom3	T	A	5: 93,088,705 (GRCm39)	V485E	probably damaging	Het
Slc7a11	A	T	3: 50,335,476 (GRCm39)	I354N	probably damaging	Het
Spryd7	A	T	14: 61,783,129 (GRCm39)		probably null	Het
Srcap	A	G	7: 127,129,499 (GRCm39)		probably benign	Het
Svep1	T	A	4: 58,179,601 (GRCm39)	D214V	probably damaging	Het
Tmtc4	T	C	14: 123,209,289 (GRCm39)	I119V	probably benign	Het
Trim5	G	A	7: 103,927,633 (GRCm39)	T169I	probably benign	Het
Ttc33	T	C	15: 5,241,506 (GRCm39)	F83S	probably benign	Het
Ubr5	A	T	15: 37,997,431 (GRCm39)	S1741T	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdcp	A	G	12: 4,907,975 (GRCm39)	N694S	probably benign	Het
Zfp174	T	A	16: 3,666,041 (GRCm39)	I102N	probably damaging	Het
Zfp354a	T	C	11: 50,960,539 (GRCm39)	F248S	probably damaging	Het
Zfyve26	A	T	12: 79,302,098 (GRCm39)	C404S	probably damaging	Het
Zmynd8	A	T	2: 165,723,000 (GRCm39)		probably benign	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
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'- TGTGGTTGCTAGCTCAAAGAC -3'
(R):5'- TGCACTATCAAACTGGTGTGC -3'

Sequencing Primer
(F):5'- GTGGTTGCTAGCTCAAAGACACTATC -3'
(R):5'- ACTGGTGTGCAAACAAATGATC -3'

Posted On

2019-12-03