Mutagenetix > Incidental Mutation

Incidental Mutation 'R4664:Siglecf'

353101

Institutional Source

Beutler Lab

Gene Symbol

Siglecf

Ensembl Gene

ENSMUSG00000039013

Gene Name

sialic acid binding Ig-like lectin F

Synonyms

mSiglec-F, Siglec5

MMRRC Submission

041922-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4664 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43000765-43008955 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43005837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 465 (I465F)

Ref Sequence

ENSEMBL: ENSMUSP00000146009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012798] [ENSMUST00000121494] [ENSMUST00000122423] [ENSMUST00000206299]

AlphaFold

Q920G3

Predicted Effect

probably benign
Transcript: ENSMUST00000012798
AA Change: I499F

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: I499F

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IG	25	131	6.07e-3	SMART
IG_like	142	226	4.91e1	SMART
IGc2	256	315	8.7e-13	SMART
transmembrane domain	440	462	N/A	INTRINSIC
low complexity region	486	500	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121494
AA Change: I499F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: I499F

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IG	25	131	6.07e-3	SMART
IG_like	142	226	4.91e1	SMART
IGc2	256	315	8.7e-13	SMART
Pfam:Ig_2	329	421	2.4e-3	PFAM
transmembrane domain	440	462	N/A	INTRINSIC
low complexity region	486	500	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122423
AA Change: I499F

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: I499F

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IG	25	131	6.07e-3	SMART
IG_like	142	226	4.91e1	SMART
IGc2	256	315	8.7e-13	SMART
Pfam:Ig_2	329	421	5.1e-4	PFAM
transmembrane domain	440	462	N/A	INTRINSIC
low complexity region	486	500	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145867

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206299
AA Change: I465F

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (110/115)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased lung inflammation in response to ovalbumin challenge with increased eosinophils, delayed eosinophil resolution and impaired eosinophil apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	A	G	6: 125,840,501 (GRCm39)	I391V	probably benign	Het
Apc	T	A	18: 34,431,647 (GRCm39)	L349M	probably damaging	Het
Atmin	A	G	8: 117,684,698 (GRCm39)	D786G	probably damaging	Het
Atp8a1	T	A	5: 67,919,929 (GRCm39)	D379V	possibly damaging	Het
Aurkb	A	G	11: 68,939,435 (GRCm39)	K173E	probably damaging	Het
Bak1	T	C	17: 27,241,510 (GRCm39)	I83V	possibly damaging	Het
Btbd17	A	C	11: 114,684,832 (GRCm39)	V69G	probably damaging	Het
Cacna1a	T	A	8: 85,328,396 (GRCm39)	Y1597*	probably null	Het
Camk2a	C	A	18: 61,088,696 (GRCm39)	Q167K	possibly damaging	Het
Capn1	A	T	19: 6,061,045 (GRCm39)	N253K	probably benign	Het
Ccer2	A	G	7: 28,455,928 (GRCm39)	E40G	probably benign	Het
Cdc42bpa	A	G	1: 179,972,130 (GRCm39)	T527A	probably damaging	Het
Cdkl2	T	C	5: 92,185,124 (GRCm39)	D89G	probably damaging	Het
Cep128	G	T	12: 91,263,027 (GRCm39)	R291S	probably damaging	Het
Cert1	T	C	13: 96,735,965 (GRCm39)	V175A	probably benign	Het
Chd4	A	G	6: 125,078,465 (GRCm39)	M203V	possibly damaging	Het
Chrna4	A	G	2: 180,679,286 (GRCm39)	S54P	probably damaging	Het
Cic	TGTTGCCCTC	T	7: 24,990,099 (GRCm39)		probably benign	Het
Cntn5	T	A	9: 10,144,214 (GRCm39)	I152L	possibly damaging	Het
Cntn6	A	G	6: 104,705,245 (GRCm39)	E154G	probably benign	Het
Col16a1	A	C	4: 129,955,883 (GRCm39)		probably benign	Het
Cpvl	C	T	6: 53,908,918 (GRCm39)	E282K	probably benign	Het
Cyth2	T	C	7: 45,460,143 (GRCm39)	D183G	probably damaging	Het
Ddx47	A	T	6: 134,989,319 (GRCm39)	T48S	possibly damaging	Het
Dgkk	A	G	X: 6,794,751 (GRCm39)	D685G	probably benign	Het
Dis3l	C	T	9: 64,238,080 (GRCm39)	S29N	unknown	Het
Dlg5	T	C	14: 24,187,249 (GRCm39)	H1834R	possibly damaging	Het
Dnah10	T	C	5: 124,905,536 (GRCm39)	M4060T	possibly damaging	Het
Dock3	T	A	9: 106,870,743 (GRCm39)	N557I	possibly damaging	Het
Dync2i1	T	C	12: 116,219,831 (GRCm39)	E37G	probably damaging	Het
Eprs1	A	T	1: 185,105,273 (GRCm39)		probably benign	Het
Faim2	C	A	15: 99,422,581 (GRCm39)		probably null	Het
Faim2	T	G	15: 99,422,582 (GRCm39)	S72R	probably benign	Het
Fanca	T	C	8: 123,995,711 (GRCm39)	T1364A	probably damaging	Het
Fance	T	C	17: 28,534,636 (GRCm39)		probably benign	Het
Farsb	A	T	1: 78,420,402 (GRCm39)	H496Q	possibly damaging	Het
Fryl	C	T	5: 73,248,022 (GRCm39)	E1032K	possibly damaging	Het
Galnt14	A	T	17: 73,814,808 (GRCm39)		probably benign	Het
Gba2	A	T	4: 43,568,619 (GRCm39)		probably benign	Het
Gjb4	C	A	4: 127,245,571 (GRCm39)	K123N	probably damaging	Het
Gmcl1	G	A	6: 86,709,980 (GRCm39)	T56I	probably benign	Het
Gtf2ird1	T	A	5: 134,412,756 (GRCm39)	E55V	probably damaging	Het
Gtpbp2	T	C	17: 46,472,080 (GRCm39)	V5A	probably benign	Het
Hnrnpr	A	G	4: 136,044,486 (GRCm39)		probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Hsd3b3	T	C	3: 98,649,532 (GRCm39)	S264G	probably damaging	Het
Ints8	T	C	4: 11,227,152 (GRCm39)	M574V	probably benign	Het
Kif4-ps	G	A	12: 101,115,477 (GRCm39)		noncoding transcript	Het
Klhl14	A	T	18: 21,687,765 (GRCm39)	N552K	probably benign	Het
Klhl40	A	G	9: 121,609,799 (GRCm39)	E528G	probably damaging	Het
Lactb2	T	C	1: 13,717,624 (GRCm39)	E133G	probably damaging	Het
Lratd2	A	T	15: 60,695,478 (GRCm39)	D89E	probably benign	Het
Lrrtm2	T	C	18: 35,347,310 (GRCm39)		probably null	Het
Mab21l2	T	A	3: 86,454,811 (GRCm39)	Y63F	probably benign	Het
Mbd1	T	A	18: 74,402,597 (GRCm39)	I33N	possibly damaging	Het
Mertk	G	A	2: 128,643,132 (GRCm39)	V844M	probably benign	Het
Myh11	T	C	16: 14,044,448 (GRCm39)	T652A	possibly damaging	Het
Nlrp4a	C	A	7: 26,148,943 (GRCm39)	Y183*	probably null	Het
Noa1	T	A	5: 77,447,600 (GRCm39)	T558S	probably benign	Het
Nol11	A	T	11: 107,071,826 (GRCm39)	S256T	possibly damaging	Het
Nr1d1	G	T	11: 98,662,086 (GRCm39)	R183S	possibly damaging	Het
Nrg2	G	T	18: 36,185,948 (GRCm39)	Q264K	possibly damaging	Het
Nsd3	T	A	8: 26,188,894 (GRCm39)	F1027I	probably damaging	Het
Ntrk3	T	A	7: 78,110,847 (GRCm39)	I285F	probably damaging	Het
Obox8	T	C	7: 14,066,771 (GRCm39)	N91S	possibly damaging	Het
Oga	T	C	19: 45,760,384 (GRCm39)	E258G	probably benign	Het
Orc5	C	T	5: 22,751,520 (GRCm39)	S63N	probably benign	Het
Osbpl6	C	T	2: 76,398,552 (GRCm39)	T412I	probably benign	Het
P2ry14	C	T	3: 59,022,563 (GRCm39)	C308Y	probably damaging	Het
Pacsin1	T	C	17: 27,926,038 (GRCm39)	F127L	probably damaging	Het
Pex11b	T	C	3: 96,551,151 (GRCm39)	L198P	possibly damaging	Het
Pla2g4e	A	T	2: 120,001,669 (GRCm39)	V660E	probably damaging	Het
Plxna4	C	A	6: 32,493,885 (GRCm39)	V244F	possibly damaging	Het
Polr3b	A	G	10: 84,550,233 (GRCm39)	Y981C	probably damaging	Het
Popdc2	T	A	16: 38,194,649 (GRCm39)	S357T	probably damaging	Het
Prr29	A	G	11: 106,267,159 (GRCm39)	H58R	probably damaging	Het
Pyy	T	A	11: 101,998,178 (GRCm39)	M1L	possibly damaging	Het
Rasd2	T	C	8: 75,948,556 (GRCm39)	S161P	possibly damaging	Het
Ryr3	C	T	2: 112,826,900 (GRCm39)		probably benign	Het
Sectm1a	G	A	11: 120,960,552 (GRCm39)	R88C	possibly damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sorl1	A	T	9: 41,915,347 (GRCm39)	M1294K	probably damaging	Het
Spam1	A	T	6: 24,796,661 (GRCm39)	H204L	probably benign	Het
Sspo	A	T	6: 48,450,468 (GRCm39)	N2586Y	possibly damaging	Het
Tbc1d4	A	G	14: 101,700,263 (GRCm39)		probably benign	Het
Tceanc2	A	T	4: 107,022,757 (GRCm39)	S77T	probably damaging	Het
Tedc2	A	G	17: 24,439,114 (GRCm39)		probably benign	Het
Tgm6	A	G	2: 129,979,314 (GRCm39)	D148G	probably benign	Het
Tgm6	A	T	2: 129,983,128 (GRCm39)	Q239L	probably benign	Het
Thsd7a	T	A	6: 12,337,313 (GRCm39)	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,012 (GRCm39)	I381F	possibly damaging	Het
Tmc4	T	C	7: 3,674,270 (GRCm39)		probably null	Het
Tmem54	A	T	4: 129,004,704 (GRCm39)	E186D	possibly damaging	Het
Tpk1	A	T	6: 43,588,269 (GRCm39)	F32I	probably benign	Het
Trpc4ap	A	G	2: 155,514,917 (GRCm39)	I97T	probably benign	Het
Tut7	G	A	13: 59,948,413 (GRCm39)	T636I	possibly damaging	Het
Txlnb	A	G	10: 17,718,942 (GRCm39)	E591G	probably damaging	Het
Tyk2	C	T	9: 21,025,503 (GRCm39)	A741T	probably damaging	Het
Ubr4	G	A	4: 139,133,829 (GRCm39)	E742K	possibly damaging	Het
Uckl1	A	T	2: 181,216,661 (GRCm39)	S95T	possibly damaging	Het
Uevld	T	A	7: 46,587,734 (GRCm39)	D322V	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn1r238	G	T	18: 3,123,300 (GRCm39)	T38K	probably damaging	Het
Vps8	T	A	16: 21,262,938 (GRCm39)		probably null	Het
Wdr83	T	C	8: 85,806,680 (GRCm39)		probably benign	Het
Zfp619	A	G	7: 39,183,559 (GRCm39)	T51A	probably benign	Het

Other mutations in Siglecf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Siglecf	APN	7	43,001,377 (GRCm39)	nonsense	probably null
IGL01350:Siglecf	APN	7	43,005,319 (GRCm39)	intron	probably benign
IGL01458:Siglecf	APN	7	43,004,562 (GRCm39)	missense	possibly damaging	0.46
IGL01582:Siglecf	APN	7	43,008,145 (GRCm39)	missense	possibly damaging	0.55
IGL02347:Siglecf	APN	7	43,001,145 (GRCm39)	missense	possibly damaging	0.78
IGL02530:Siglecf	APN	7	43,001,634 (GRCm39)	missense	probably benign	0.07
IGL02700:Siglecf	APN	7	43,001,802 (GRCm39)	missense	probably damaging	1.00
IGL03093:Siglecf	APN	7	43,001,865 (GRCm39)	missense	probably damaging	1.00
IGL03178:Siglecf	APN	7	43,008,163 (GRCm39)	missense	probably damaging	0.98
IGL03280:Siglecf	APN	7	43,005,354 (GRCm39)	missense	probably benign	0.04
ANU23:Siglecf	UTSW	7	43,001,377 (GRCm39)	nonsense	probably null
R0003:Siglecf	UTSW	7	43,005,350 (GRCm39)	missense	probably benign
R0025:Siglecf	UTSW	7	43,001,349 (GRCm39)	missense	probably benign	0.29
R0304:Siglecf	UTSW	7	43,001,825 (GRCm39)	missense	probably damaging	1.00
R0345:Siglecf	UTSW	7	43,001,368 (GRCm39)	missense	probably damaging	1.00
R0395:Siglecf	UTSW	7	43,005,399 (GRCm39)	missense	probably damaging	1.00
R0515:Siglecf	UTSW	7	43,005,055 (GRCm39)	critical splice donor site	probably null
R1296:Siglecf	UTSW	7	43,005,344 (GRCm39)	nonsense	probably null
R1861:Siglecf	UTSW	7	43,004,967 (GRCm39)	missense	probably benign	0.01
R1861:Siglecf	UTSW	7	43,001,648 (GRCm39)	missense	probably benign	0.00
R1869:Siglecf	UTSW	7	43,004,967 (GRCm39)	missense	probably benign	0.01
R1870:Siglecf	UTSW	7	43,004,967 (GRCm39)	missense	probably benign	0.01
R1871:Siglecf	UTSW	7	43,004,967 (GRCm39)	missense	probably benign	0.01
R2063:Siglecf	UTSW	7	43,001,804 (GRCm39)	missense	possibly damaging	0.79
R2176:Siglecf	UTSW	7	43,001,140 (GRCm39)	missense	probably damaging	0.98
R2237:Siglecf	UTSW	7	43,004,409 (GRCm39)	missense	probably benign	0.06
R4023:Siglecf	UTSW	7	43,004,995 (GRCm39)	missense	possibly damaging	0.56
R4498:Siglecf	UTSW	7	43,001,700 (GRCm39)	missense	possibly damaging	0.47
R5227:Siglecf	UTSW	7	43,001,364 (GRCm39)	missense	probably damaging	1.00
R5315:Siglecf	UTSW	7	43,004,532 (GRCm39)	missense	probably benign	0.01
R5763:Siglecf	UTSW	7	43,005,744 (GRCm39)	nonsense	probably null
R5828:Siglecf	UTSW	7	43,001,137 (GRCm39)	missense	probably damaging	1.00
R5871:Siglecf	UTSW	7	43,005,045 (GRCm39)	missense	probably benign	0.04
R5952:Siglecf	UTSW	7	43,005,351 (GRCm39)	missense	probably benign	0.00
R6054:Siglecf	UTSW	7	43,004,430 (GRCm39)	missense	probably damaging	1.00
R6537:Siglecf	UTSW	7	43,005,423 (GRCm39)	missense	probably benign
R6854:Siglecf	UTSW	7	43,001,604 (GRCm39)	missense	probably benign	0.00
R6875:Siglecf	UTSW	7	43,004,624 (GRCm39)	missense	probably benign	0.04
R7328:Siglecf	UTSW	7	43,001,691 (GRCm39)	missense	possibly damaging	0.92
R7329:Siglecf	UTSW	7	43,001,395 (GRCm39)	missense	probably damaging	1.00
R7356:Siglecf	UTSW	7	43,005,855 (GRCm39)	missense	probably benign	0.00
R7369:Siglecf	UTSW	7	43,001,241 (GRCm39)	missense	probably damaging	0.99
R7659:Siglecf	UTSW	7	43,001,194 (GRCm39)	missense	probably damaging	1.00
R7984:Siglecf	UTSW	7	43,004,655 (GRCm39)	splice site	probably null
R8074:Siglecf	UTSW	7	43,001,214 (GRCm39)	missense	possibly damaging	0.93
R8411:Siglecf	UTSW	7	43,001,368 (GRCm39)	missense	probably damaging	1.00
R8686:Siglecf	UTSW	7	43,005,030 (GRCm39)	missense	probably benign	0.31
R8724:Siglecf	UTSW	7	43,004,976 (GRCm39)	missense	probably damaging	1.00
R8962:Siglecf	UTSW	7	43,001,140 (GRCm39)	missense	probably damaging	1.00
R9480:Siglecf	UTSW	7	43,001,666 (GRCm39)	missense	possibly damaging	0.79
R9572:Siglecf	UTSW	7	43,002,058 (GRCm39)	missense	possibly damaging	0.83
R9592:Siglecf	UTSW	7	43,001,696 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCCCAAATTCCATCTAGCTG -3'
(R):5'- ACGTTGGGAAGAGCTTTGC -3'

Sequencing Primer
(F):5'- CAAATTCCATCTAGCTGAGCTG -3'
(R):5'- CTTTGCTAACAGAAACAATGGGC -3'

Posted On

2015-10-08