Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01306:Siglecf'

73458

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Siglecf

Ensembl Gene

ENSMUSG00000039013

Gene Name

sialic acid binding Ig-like lectin F

Synonyms

mSiglec-F, Siglec5

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01306

Quality Score

Status

Chromosome

Chromosomal Location

43351341-43359531 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 43351953 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 115 (L115*)

Ref Sequence

ENSEMBL: ENSMUSP00000146009 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000012798
AA Change: L115*

SMART Domains

Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: L115*

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

probably null
Transcript: ENSMUST00000121494
AA Change: L115*

SMART Domains

Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: L115*

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 null
Transcript: ENSMUST00000122423
AA Change: L115*

SMART Domains

Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: L115*

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

probably null
Transcript: ENSMUST00000206299
AA Change: L115*

Coding Region Coverage

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,005,013		probably benign	Het
Abhd12b	G	A	12: 70,169,048	G88S	probably damaging	Het
Acot10	A	G	15: 20,665,965	F230S	probably benign	Het
Ago4	T	C	4: 126,515,884		probably null	Het
Akap12	G	T	10: 4,353,273	A28S	probably benign	Het
Anks1	C	A	17: 27,986,253	T262K	probably damaging	Het
Arfgap3	A	G	15: 83,313,509	Y349H	possibly damaging	Het
Camsap2	T	A	1: 136,297,790	E199D	probably benign	Het
Ccdc13	A	T	9: 121,827,363	M128K	probably benign	Het
Ccdc38	T	C	10: 93,569,935		probably null	Het
Cep95	G	A	11: 106,813,815	V499I	probably benign	Het
Cpne6	A	T	14: 55,515,249	I299F	probably damaging	Het
Cse1l	T	A	2: 166,927,508	Y278*	probably null	Het
Dip2c	A	G	13: 9,575,143	N558D	possibly damaging	Het
Edar	A	T	10: 58,628,638	C60S	probably damaging	Het
Fat2	T	C	11: 55,310,872	N459D	probably benign	Het
Fbxw8	C	T	5: 118,113,720	V243M	possibly damaging	Het
Fem1b	G	A	9: 62,797,528	A150V	possibly damaging	Het
Gal3st1	A	G	11: 3,998,405	Y204C	probably damaging	Het
Gm5422	A	T	10: 31,249,436		noncoding transcript	Het
Grin2c	T	C	11: 115,256,194	T392A	probably benign	Het
Itpk1	T	C	12: 102,606,103	E117G	probably damaging	Het
Kif12	G	T	4: 63,165,884	P627Q	probably damaging	Het
Krtap15	T	A	16: 88,829,367	F88L	probably benign	Het
Mlh1	T	C	9: 111,252,912	N248D	possibly damaging	Het
Olfr617	T	C	7: 103,584,693	Y224H	probably damaging	Het
Olfr727	A	G	14: 50,126,582	N2D	probably benign	Het
Olfr94	T	C	17: 37,196,942	N342S	probably benign	Het
Per2	T	C	1: 91,448,833	H106R	probably damaging	Het
Pfkl	T	A	10: 77,991,395	T486S	probably benign	Het
Prkdc	T	C	16: 15,667,731	V474A	possibly damaging	Het
Scamp4	C	A	10: 80,609,422	Q34K	probably damaging	Het
Serpinb3b	A	G	1: 107,154,665	Y290H	probably damaging	Het
Sft2d2	G	T	1: 165,183,995	A110E	probably benign	Het
Slc6a11	C	T	6: 114,134,665	T103M	probably damaging	Het
Slco1a1	T	A	6: 141,946,587	K18*	probably null	Het
Spata1	A	T	3: 146,487,399	Y112*	probably null	Het
Tbc1d32	G	A	10: 56,180,524	T440I	probably benign	Het
Vmn2r111	T	A	17: 22,568,984	E462V	probably damaging	Het
Wnt16	C	T	6: 22,297,935	R267C	probably damaging	Het
Xylt1	A	C	7: 117,548,890	S230R	probably benign	Het

Other mutations in Siglecf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Siglecf	APN	7	43355895	intron	probably benign
IGL01458:Siglecf	APN	7	43355138	missense	possibly damaging	0.46
IGL01582:Siglecf	APN	7	43358721	missense	possibly damaging	0.55
IGL02347:Siglecf	APN	7	43351721	missense	possibly damaging	0.78
IGL02530:Siglecf	APN	7	43352210	missense	probably benign	0.07
IGL02700:Siglecf	APN	7	43352378	missense	probably damaging	1.00
IGL03093:Siglecf	APN	7	43352441	missense	probably damaging	1.00
IGL03178:Siglecf	APN	7	43358739	missense	probably damaging	0.98
IGL03280:Siglecf	APN	7	43355930	missense	probably benign	0.04
ANU23:Siglecf	UTSW	7	43351953	nonsense	probably null
R0003:Siglecf	UTSW	7	43355926	missense	probably benign
R0025:Siglecf	UTSW	7	43351925	missense	probably benign	0.29
R0304:Siglecf	UTSW	7	43352401	missense	probably damaging	1.00
R0345:Siglecf	UTSW	7	43351944	missense	probably damaging	1.00
R0395:Siglecf	UTSW	7	43355975	missense	probably damaging	1.00
R0515:Siglecf	UTSW	7	43355631	critical splice donor site	probably null
R1296:Siglecf	UTSW	7	43355920	nonsense	probably null
R1861:Siglecf	UTSW	7	43352224	missense	probably benign	0.00
R1861:Siglecf	UTSW	7	43355543	missense	probably benign	0.01
R1869:Siglecf	UTSW	7	43355543	missense	probably benign	0.01
R1870:Siglecf	UTSW	7	43355543	missense	probably benign	0.01
R1871:Siglecf	UTSW	7	43355543	missense	probably benign	0.01
R2063:Siglecf	UTSW	7	43352380	missense	possibly damaging	0.79
R2176:Siglecf	UTSW	7	43351716	missense	probably damaging	0.98
R2237:Siglecf	UTSW	7	43354985	missense	probably benign	0.06
R4023:Siglecf	UTSW	7	43355571	missense	possibly damaging	0.56
R4498:Siglecf	UTSW	7	43352276	missense	possibly damaging	0.47
R4664:Siglecf	UTSW	7	43356413	missense	possibly damaging	0.75
R5227:Siglecf	UTSW	7	43351940	missense	probably damaging	1.00
R5315:Siglecf	UTSW	7	43355108	missense	probably benign	0.01
R5763:Siglecf	UTSW	7	43356320	nonsense	probably null
R5828:Siglecf	UTSW	7	43351713	missense	probably damaging	1.00
R5871:Siglecf	UTSW	7	43355621	missense	probably benign	0.04
R5952:Siglecf	UTSW	7	43355927	missense	probably benign	0.00
R6054:Siglecf	UTSW	7	43355006	missense	probably damaging	1.00
R6537:Siglecf	UTSW	7	43355999	missense	probably benign
R6854:Siglecf	UTSW	7	43352180	missense	probably benign	0.00
R6875:Siglecf	UTSW	7	43355200	missense	probably benign	0.04
R7328:Siglecf	UTSW	7	43352267	missense	possibly damaging	0.92
R7329:Siglecf	UTSW	7	43351971	missense	probably damaging	1.00
R7356:Siglecf	UTSW	7	43356431	missense	probably benign	0.00
R7369:Siglecf	UTSW	7	43351817	missense	probably damaging	0.99
R7659:Siglecf	UTSW	7	43351770	missense	probably damaging	1.00
R7984:Siglecf	UTSW	7	43355231	splice site	probably null
R8074:Siglecf	UTSW	7	43351790	missense	possibly damaging	0.93
R8411:Siglecf	UTSW	7	43351944	missense	probably damaging	1.00

Posted On

2013-10-07