Mutagenetix > Incidental Mutation

Incidental Mutation 'R1871:Siglecf'

210735

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

039893-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1871 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43000765-43008955 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43004967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 399 (N399S)

Ref Sequence

ENSEMBL: ENSMUSP00000112583 (fasta)

Gene Model

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

AlphaFold

Q920G3

Predicted Effect

probably benign
Transcript: ENSMUST00000012798
AA Change: N399S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: N399S

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 benign
Transcript: ENSMUST00000121494
AA Change: N399S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: N399S

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: N399S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: N399S

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 benign
Transcript: ENSMUST00000206299
AA Change: N399S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

97% (87/90)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	A	G	10: 115,415,699 (GRCm39)		probably null	Het
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abce1	G	A	8: 80,411,897 (GRCm39)	Q588*	probably null	Het
Acads	A	T	5: 115,255,701 (GRCm39)	C45S	probably damaging	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts12	T	C	15: 11,311,240 (GRCm39)	S1166P	probably benign	Het
Ano4	T	A	10: 88,828,889 (GRCm39)	I517F	probably damaging	Het
Arpc1a	T	A	5: 145,043,901 (GRCm39)	C344S	possibly damaging	Het
Blk	A	T	14: 63,613,364 (GRCm39)	S381R	possibly damaging	Het
Capn15	C	A	17: 26,183,203 (GRCm39)	W426L	probably damaging	Het
Chd6	T	C	2: 160,832,176 (GRCm39)	T999A	probably damaging	Het
Clca3a2	A	G	3: 144,503,398 (GRCm39)	Y851H	probably benign	Het
Crp	T	A	1: 172,526,172 (GRCm39)	W86R	possibly damaging	Het
Ctnnal1	G	A	4: 56,812,534 (GRCm39)	L705F	probably benign	Het
Cyp2c66	A	G	19: 39,151,858 (GRCm39)	D191G	possibly damaging	Het
Cyp4f37	A	G	17: 32,853,639 (GRCm39)	D441G	probably damaging	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Dnah5	T	A	15: 28,331,859 (GRCm39)	Y2148*	probably null	Het
Eef1g	A	T	19: 8,955,330 (GRCm39)	D393V	possibly damaging	Het
Elapor2	A	G	5: 9,468,007 (GRCm39)	E225G	probably damaging	Het
Ephx2	A	T	14: 66,322,183 (GRCm39)	I538N	probably damaging	Het
Fat4	T	A	3: 39,035,221 (GRCm39)	S2958T	possibly damaging	Het
Foxi1	A	T	11: 34,157,937 (GRCm39)	N29K	possibly damaging	Het
Gm10287	G	T	3: 148,930,373 (GRCm39)		noncoding transcript	Het
Gm10801	G	T	2: 98,494,185 (GRCm39)	S109I	probably benign	Het
Gmcl1	T	C	6: 86,674,498 (GRCm39)	D460G	probably benign	Het
Gpr158	A	G	2: 21,820,426 (GRCm39)	D641G	probably damaging	Het
Heph	C	A	X: 95,542,690 (GRCm39)	S561Y	probably benign	Het
Hgfac	A	G	5: 35,200,257 (GRCm39)	*90W	probably null	Het
Hp1bp3	C	G	4: 137,949,497 (GRCm39)	P65R	probably damaging	Het
Ighv6-4	T	A	12: 114,370,221 (GRCm39)	Y58F	probably benign	Het
Jrk	T	C	15: 74,578,412 (GRCm39)	D291G	possibly damaging	Het
Kdm4d	A	G	9: 14,375,679 (GRCm39)	Y60H	probably damaging	Het
Khdrbs3	T	C	15: 68,921,291 (GRCm39)	Y203H	probably damaging	Het
Klhl6	A	T	16: 19,775,793 (GRCm39)	V255D	possibly damaging	Het
Krt9	C	T	11: 100,081,614 (GRCm39)	R305H	probably damaging	Het
Lama2	T	G	10: 26,860,490 (GRCm39)	N2999T	probably damaging	Het
Letm2	A	G	8: 26,086,460 (GRCm39)		probably benign	Het
Lipa	A	T	19: 34,488,328 (GRCm39)	L106Q	probably damaging	Het
Llph	A	T	10: 120,067,141 (GRCm39)	N86I	probably damaging	Het
Lyst	T	A	13: 13,826,297 (GRCm39)	N1601K	probably benign	Het
Mc1r	T	A	8: 124,134,275 (GRCm39)	S9R	probably benign	Het
Mfsd14a	A	G	3: 116,434,969 (GRCm39)	I249T	probably benign	Het
Mtfp1	G	A	11: 4,044,012 (GRCm39)	R73C	probably benign	Het
Myo1a	A	G	10: 127,555,540 (GRCm39)	Q877R	probably benign	Het
Nalcn	A	C	14: 123,831,965 (GRCm39)	V103G	possibly damaging	Het
Ndst3	A	T	3: 123,355,673 (GRCm39)	F119I	probably damaging	Het
Or8k16	A	G	2: 85,520,655 (GRCm39)	N294S	probably damaging	Het
Patl1	T	C	19: 11,902,596 (GRCm39)		probably benign	Het
Pcdhb2	A	T	18: 37,430,408 (GRCm39)		probably null	Het
Pcdhb22	A	C	18: 37,652,200 (GRCm39)	T223P	probably damaging	Het
Pcdhga1	T	A	18: 37,973,143 (GRCm39)	N907K	probably damaging	Het
Pfas	T	C	11: 68,882,795 (GRCm39)	D782G	probably damaging	Het
Plpp6	T	C	19: 28,941,684 (GRCm39)	F95S	probably damaging	Het
Polr2b	T	A	5: 77,474,374 (GRCm39)		probably benign	Het
Qars1	T	G	9: 108,391,315 (GRCm39)		probably null	Het
Ranbp2	A	G	10: 58,328,383 (GRCm39)	I2800V	probably damaging	Het
Rnf213	T	C	11: 119,340,955 (GRCm39)	V3532A	probably benign	Het
Rubcnl	T	C	14: 75,279,849 (GRCm39)	S411P	possibly damaging	Het
Scn1a	C	A	2: 66,148,369 (GRCm39)	G1059W	probably damaging	Het
Sgms1	C	T	19: 32,137,282 (GRCm39)	V95I	probably benign	Het
Slc29a4	T	C	5: 142,707,243 (GRCm39)	*529R	probably null	Het
Slfn9	G	T	11: 82,872,402 (GRCm39)	T778N	probably benign	Het
Sorl1	G	A	9: 41,881,021 (GRCm39)	Q2167*	probably null	Het
Stkld1	A	G	2: 26,827,985 (GRCm39)		probably benign	Het
Taar8b	T	C	10: 23,967,900 (GRCm39)	Y98C	probably damaging	Het
Tecta	G	A	9: 42,248,472 (GRCm39)	L1977F	probably damaging	Het
Tecta	G	C	9: 42,248,636 (GRCm39)	T1917R	probably damaging	Het
Topaz1	T	A	9: 122,628,544 (GRCm39)	S1544T	probably benign	Het
Tpx2	T	C	2: 152,735,523 (GRCm39)	I717T	probably damaging	Het
Tyk2	A	T	9: 21,032,737 (GRCm39)	V342E	probably damaging	Het
Ube4a	A	T	9: 44,856,235 (GRCm39)		probably null	Het
Unc80	A	T	1: 66,549,876 (GRCm39)	R711S	possibly damaging	Het
Ush2a	C	A	1: 188,558,665 (GRCm39)	D3631E	probably benign	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vps13a	T	C	19: 16,642,028 (GRCm39)	T2200A	probably benign	Het
Wif1	A	G	10: 120,920,824 (GRCm39)	I215M	probably benign	Het
Wnk1	T	C	6: 119,928,050 (GRCm39)	T1134A	probably damaging	Het
Xxylt1	A	G	16: 30,776,235 (GRCm39)	V367A	probably damaging	Het
Zfp735	A	T	11: 73,601,412 (GRCm39)	K119*	probably null	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
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
R4664:Siglecf	UTSW	7	43,005,837 (GRCm39)	missense	possibly damaging	0.75
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'- TGATCACAGCCTGGGAAATCC -3'
(R):5'- ATGTGACTACAGCCTCCTGC -3'

Sequencing Primer
(F):5'- TTCGAGGGTCAAGGTCTGCAC -3'
(R):5'- CCCTACCAAGCTAACAGATAGG -3'

Posted On

2014-06-30