Mutagenetix > Incidental Mutation

Incidental Mutation 'R7111:Siglece'

551511

Institutional Source

Beutler Lab

Gene Symbol

Siglece

Ensembl Gene

ENSMUSG00000030474

Gene Name

sialic acid binding Ig-like lectin E

Synonyms

Siglecl1, mSiglec-E, Siglec5

MMRRC Submission

045203-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R7111 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43300494-43309585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43309327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 77 (D77G)

Ref Sequence

ENSEMBL: ENSMUSP00000032667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032667]

AlphaFold

Q91Y57

Predicted Effect

probably damaging
Transcript: ENSMUST00000032667
AA Change: D77G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032667
Gene: ENSMUSG00000030474
AA Change: D77G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	30	146	1.52e-3	SMART
IG	155	239	4.15e0	SMART
IGc2	269	330	6.81e-6	SMART
transmembrane domain	352	374	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000206421

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele or a knock-in allele that destroys the sialic acid binding site exhibit increased neutrophil and macrophage recruitment in an LPS-induced model of acute lung ariway inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	G	19: 57,062,309 (GRCm39)	N384T	probably benign	Het
Agap3	A	G	5: 24,706,396 (GRCm39)	Y843C	probably damaging	Het
Aldh9a1	T	A	1: 167,182,021 (GRCm39)	V118E	probably benign	Het
Arhgef26	T	A	3: 62,252,689 (GRCm39)	S414T	possibly damaging	Het
Armc9	T	C	1: 86,087,717 (GRCm39)	Y18H	probably damaging	Het
Bod1l	A	G	5: 41,970,463 (GRCm39)		probably null	Het
Casp1	A	T	9: 5,299,816 (GRCm39)	E96D	probably benign	Het
Ccdc171	A	G	4: 83,611,998 (GRCm39)	I898V	probably benign	Het
Cd79b	T	C	11: 106,205,365 (GRCm39)	I42M	possibly damaging	Het
Cdca7	G	A	2: 72,315,575 (GRCm39)	R346H	probably damaging	Het
Cdh20	T	C	1: 110,065,638 (GRCm39)	S176P		Het
Cdh23	T	A	10: 60,222,823 (GRCm39)	D1200V	probably damaging	Het
Cdkn1c	T	C	7: 143,014,326 (GRCm39)	D40G	possibly damaging	Het
Ckap5	G	A	2: 91,437,917 (GRCm39)	R1666H	probably damaging	Het
Cxcl1	A	G	5: 91,039,182 (GRCm39)	T5A	unknown	Het
Dnah2	A	C	11: 69,337,579 (GRCm39)		probably null	Het
Dnai3	T	C	3: 145,803,028 (GRCm39)	I54M	probably damaging	Het
Ephb3	A	T	16: 21,037,577 (GRCm39)	K500*	probably null	Het
Fam13c	T	A	10: 70,390,336 (GRCm39)	H533Q	probably benign	Het
Fat4	T	A	3: 39,064,682 (GRCm39)	D4879E	probably damaging	Het
Grk6	G	T	13: 55,606,733 (GRCm39)	W511L	probably damaging	Het
Hivep3	G	C	4: 119,952,431 (GRCm39)	S249T	possibly damaging	Het
Iqch	T	A	9: 63,419,599 (GRCm39)	Y496F	possibly damaging	Het
Itga2	T	C	13: 115,037,066 (GRCm39)	I21V	unknown	Het
Itpr2	A	T	6: 146,226,554 (GRCm39)	C1397S	probably damaging	Het
Krt86	A	T	15: 101,374,498 (GRCm39)	Y297F	possibly damaging	Het
Limch1	G	T	5: 67,182,519 (GRCm39)		probably null	Het
Mfsd6	G	T	1: 52,748,917 (GRCm39)		probably null	Het
Mx1	A	G	16: 97,256,376 (GRCm39)	V181A	probably damaging	Het
Nme8	G	A	13: 19,859,817 (GRCm39)	R268W	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or10p1	T	A	10: 129,443,829 (GRCm39)	I174F	possibly damaging	Het
Or5d36	G	A	2: 87,901,000 (GRCm39)	T242I	probably damaging	Het
Pappa2	T	A	1: 158,784,096 (GRCm39)	I305F	probably benign	Het
Pdlim3	A	G	8: 46,370,539 (GRCm39)	K232E	probably damaging	Het
Rcn1	T	C	2: 105,219,359 (GRCm39)	E278G	probably damaging	Het
Ros1	T	C	10: 52,057,906 (GRCm39)	D47G	probably benign	Het
Sema4c	G	A	1: 36,592,160 (GRCm39)	T229M	possibly damaging	Het
Serpina3j	T	A	12: 104,283,792 (GRCm39)	W297R	probably damaging	Het
Serpinb11	A	G	1: 107,304,614 (GRCm39)	E193G	probably benign	Het
Shank2	A	G	7: 143,965,289 (GRCm39)	I966V	probably benign	Het
Sqstm1	G	T	11: 50,093,418 (GRCm39)	Q327K	probably benign	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Styxl2	T	C	1: 165,954,723 (GRCm39)	E9G	possibly damaging	Het
Svep1	A	T	4: 58,118,207 (GRCm39)	D838E	possibly damaging	Het
Tacc2	G	A	7: 130,330,618 (GRCm39)	A191T	probably benign	Het
Tnfrsf18	T	A	4: 156,113,168 (GRCm39)	W285R	probably damaging	Het
Tspan9	T	C	6: 127,942,726 (GRCm39)	D167G	probably null	Het
Uaca	C	T	9: 60,779,120 (GRCm39)	T1169I	probably benign	Het
Umod	G	T	7: 119,076,369 (GRCm39)	Y132*	probably null	Het
Vmn2r31	A	G	7: 7,399,480 (GRCm39)	F159S	probably damaging	Het
Vmn2r82	C	T	10: 79,214,605 (GRCm39)	T196I	probably benign	Het
Wrap53	A	T	11: 69,453,305 (GRCm39)	W379R	probably damaging	Het
Zfp866	A	T	8: 70,219,221 (GRCm39)	V133D	probably benign	Het

Other mutations in Siglece

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0502:Siglece	UTSW	7	43,309,355 (GRCm39)	missense	probably damaging	1.00
R1766:Siglece	UTSW	7	43,300,956 (GRCm39)	missense	probably damaging	0.99
R1772:Siglece	UTSW	7	43,308,717 (GRCm39)	missense	probably damaging	1.00
R1853:Siglece	UTSW	7	43,309,360 (GRCm39)	missense	probably benign	0.01
R1854:Siglece	UTSW	7	43,309,360 (GRCm39)	missense	probably benign	0.01
R1914:Siglece	UTSW	7	43,307,219 (GRCm39)	missense	probably benign	0.03
R2060:Siglece	UTSW	7	43,307,210 (GRCm39)	missense	probably benign	0.25
R2161:Siglece	UTSW	7	43,308,793 (GRCm39)	missense	probably benign	0.01
R4461:Siglece	UTSW	7	43,300,929 (GRCm39)	missense	probably benign	0.00
R4924:Siglece	UTSW	7	43,309,297 (GRCm39)	missense	probably damaging	1.00
R4975:Siglece	UTSW	7	43,308,396 (GRCm39)	critical splice donor site	probably null
R5864:Siglece	UTSW	7	43,308,741 (GRCm39)	missense	probably damaging	1.00
R5956:Siglece	UTSW	7	43,308,760 (GRCm39)	missense	probably damaging	0.99
R8395:Siglece	UTSW	7	43,305,523 (GRCm39)	missense	probably benign	0.03
R8490:Siglece	UTSW	7	43,309,486 (GRCm39)	missense	probably benign
R9218:Siglece	UTSW	7	43,307,162 (GRCm39)	missense	possibly damaging	0.81
R9535:Siglece	UTSW	7	43,307,055 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATCTCGTACACTGCTCCCAAC -3'
(R):5'- CCCAAGAGGTTTTCACCCTG -3'

Sequencing Primer
(F):5'- TGTCTGACCTGTTACAACCAGAG -3'
(R):5'- CCAAGAGGTTTTCACCCTGAATGTG -3'

Posted On

2019-05-15