Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:Siglecf'

37747

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

038515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43000765-43008955 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 43001825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 212 (G212C)

Ref Sequence

ENSEMBL: ENSMUSP00000146009 (fasta)

Gene Model

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

AlphaFold

Q920G3

Predicted Effect

probably damaging
Transcript: ENSMUST00000012798
AA Change: G212C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: G212C

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 damaging
Transcript: ENSMUST00000121494
AA Change: G212C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: G212C

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 damaging
Transcript: ENSMUST00000122423
AA Change: G212C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: G212C

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 damaging
Transcript: ENSMUST00000206299
AA Change: G212C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	C	T	4: 144,246,619 (GRCm39)	T55I	probably benign	Het
Acod1	T	A	14: 103,292,418 (GRCm39)	I314N	probably damaging	Het
Actl11	T	A	9: 107,806,967 (GRCm39)	V430E	probably damaging	Het
Adam19	A	C	11: 46,018,219 (GRCm39)	D427A	possibly damaging	Het
Adarb2	C	T	13: 8,802,606 (GRCm39)		probably benign	Het
Akap7	A	T	10: 25,147,450 (GRCm39)	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,578,981 (GRCm39)	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,864,612 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,427,644 (GRCm39)	I489F	probably benign	Het
Carmil1	T	C	13: 24,323,324 (GRCm39)	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,367,278 (GRCm39)	V939A	probably damaging	Het
Cel	A	C	2: 28,447,783 (GRCm39)	L377R	probably benign	Het
Clock	A	G	5: 76,374,832 (GRCm39)	V779A	unknown	Het
Cluap1	G	A	16: 3,747,782 (GRCm39)		probably benign	Het
Ctif	A	T	18: 75,654,889 (GRCm39)	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,110,129 (GRCm39)		probably benign	Het
Cytip	T	C	2: 58,038,258 (GRCm39)	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 25,048,798 (GRCm39)	M434T	probably benign	Het
Ddx47	A	G	6: 134,994,183 (GRCm39)	I154V	possibly damaging	Het
Dnah6	C	T	6: 73,136,098 (GRCm39)	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,156,793 (GRCm39)		probably benign	Het
Drc7	A	T	8: 95,785,756 (GRCm39)	D204V	probably damaging	Het
Dsc3	A	G	18: 20,114,298 (GRCm39)	Y319H	probably damaging	Het
Eml6	T	C	11: 29,727,441 (GRCm39)	Q1227R	probably benign	Het
Enpp2	A	T	15: 54,741,202 (GRCm39)	D365E	probably benign	Het
Ercc2	T	C	7: 19,120,633 (GRCm39)	I199T	possibly damaging	Het
Exd2	G	A	12: 80,538,014 (GRCm39)		probably benign	Het
F2	A	T	2: 91,463,578 (GRCm39)	I128N	probably damaging	Het
Fam219b	T	C	9: 57,446,159 (GRCm39)	L123P	probably damaging	Het
Fasn	A	G	11: 120,710,762 (GRCm39)	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,791,559 (GRCm39)	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,023,789 (GRCm39)	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,462,411 (GRCm39)	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241 (GRCm39)	T176A	probably benign	Het
Gm20530	T	G	17: 36,405,118 (GRCm39)		noncoding transcript	Het
Gm4787	A	T	12: 81,425,708 (GRCm39)	I150N	probably damaging	Het
Grip1	G	A	10: 119,911,376 (GRCm39)	S618N	probably benign	Het
Hdac9	T	C	12: 34,424,110 (GRCm39)	K454E	probably damaging	Het
Iars2	T	A	1: 185,019,353 (GRCm39)	I978F	possibly damaging	Het
Icosl	A	G	10: 77,911,156 (GRCm39)	Y299C	probably benign	Het
Idi1	T	C	13: 8,940,393 (GRCm39)	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,290 (GRCm39)	Q531P	probably damaging	Het
Itih4	T	A	14: 30,612,051 (GRCm39)		probably null	Het
Izumo4	A	T	10: 80,538,770 (GRCm39)	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325 (GRCm39)	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,860,724 (GRCm39)		probably null	Het
Kynu	A	T	2: 43,569,893 (GRCm39)	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,569,711 (GRCm39)	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552 (GRCm39)	L273R	probably damaging	Het
Max	A	G	12: 76,985,361 (GRCm39)	L119P	probably benign	Het
Mphosph9	T	C	5: 124,436,892 (GRCm39)	N484S	probably benign	Het
Mrgprg	A	G	7: 143,318,792 (GRCm39)	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,911,354 (GRCm39)	I199F	probably benign	Het
Mtr	C	G	13: 12,237,040 (GRCm39)		probably null	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Nkapd1	T	C	9: 50,519,222 (GRCm39)	D130G	probably damaging	Het
Nptx2	A	G	5: 144,490,460 (GRCm39)		probably benign	Het
Nrip1	T	C	16: 76,089,595 (GRCm39)	Q654R	possibly damaging	Het
Ocm	A	G	5: 143,961,352 (GRCm39)	F30L	probably damaging	Het
Oosp1	T	C	19: 11,668,333 (GRCm39)	M17V	probably benign	Het
Or14c45	C	T	7: 86,176,195 (GRCm39)	P77S	probably damaging	Het
Or4c111	G	A	2: 88,843,632 (GRCm39)	R259W	probably damaging	Het
Or4c118	A	C	2: 88,975,108 (GRCm39)	Y86*	probably null	Het
Or52ad1	G	T	7: 102,995,918 (GRCm39)	D72E	probably damaging	Het
Pax1	A	T	2: 147,208,067 (GRCm39)	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,751,028 (GRCm39)	H62L	probably benign	Het
Pkd1	C	A	17: 24,804,920 (GRCm39)	Q3190K	probably damaging	Het
Pkn1	A	C	8: 84,410,236 (GRCm39)		probably benign	Het
Plin5	T	C	17: 56,422,597 (GRCm39)	D113G	probably damaging	Het
Ppfia1	A	G	7: 144,036,082 (GRCm39)	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 66,123,001 (GRCm39)	D334E	probably benign	Het
Ptov1	A	T	7: 44,512,873 (GRCm39)		probably null	Het
Rab22a	G	A	2: 173,503,252 (GRCm39)	V22M	probably damaging	Het
Rictor	T	A	15: 6,815,852 (GRCm39)		probably null	Het
Sart1	G	T	19: 5,430,559 (GRCm39)		probably benign	Het
Scn11a	G	A	9: 119,648,928 (GRCm39)	A45V	probably benign	Het
Serpina5	A	G	12: 104,069,459 (GRCm39)	T224A	possibly damaging	Het
Slc38a4	A	T	15: 96,906,335 (GRCm39)	M378K	probably damaging	Het
Spata22	T	A	11: 73,231,275 (GRCm39)	C176*	probably null	Het
Tmc3	G	A	7: 83,245,347 (GRCm39)	E131K	probably damaging	Het
Trappc10	A	T	10: 78,046,594 (GRCm39)		probably benign	Het
Uvrag	A	G	7: 98,537,180 (GRCm39)	F672L	probably benign	Het
Vmn1r121	A	G	7: 20,832,332 (GRCm39)	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,187,611 (GRCm39)	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,413,495 (GRCm39)	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 12,836,707 (GRCm39)	M56I	probably benign	Het
Wdr62	T	C	7: 29,942,299 (GRCm39)	Y1051C	probably benign	Het
Xpnpep3	A	G	15: 81,314,915 (GRCm39)	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,775,611 (GRCm39)		probably benign	Het
Zfp607a	A	T	7: 27,578,637 (GRCm39)	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,608,470 (GRCm39)	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,993,408 (GRCm39)	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,771,450 (GRCm39)	D1644V	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
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
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'- CATCTACCCTGGTGTCTGGCAATTC -3'
(R):5'- TGCTTTCAGAGGAAAGATGGCTGC -3'

Sequencing Primer
(F):5'- GGTGTCTGGCAATTCTACCAAAC -3'
(R):5'- GCAGGTATTCCACCCCATTG -3'

Posted On

2013-05-23