Mutagenetix > Incidental Mutation

Incidental Mutation 'R2063:Siglecf'

228851

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

040068-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43000765-43008955 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43001804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 205 (T205A)

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: T205A

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: T205A

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: T205A

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: T205A

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: T205A

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: T205A

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: T205A

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Abca15	A	T	7: 119,960,127 (GRCm39)	T637S	possibly damaging	Het
Adgrv1	T	C	13: 81,709,588 (GRCm39)	K1135R	possibly damaging	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
AI467606	A	G	7: 126,692,009 (GRCm39)	S195G	probably damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Cic	T	A	7: 24,972,876 (GRCm39)	V869E	probably damaging	Het
Cpsf2	A	G	12: 101,949,722 (GRCm39)	D118G	probably damaging	Het
Csnk1g1	A	G	9: 65,909,512 (GRCm39)	S210G	probably damaging	Het
Cyp2c40	T	A	19: 39,775,224 (GRCm39)	M343L	probably benign	Het
Cyp4a12b	A	T	4: 115,290,700 (GRCm39)	D274V	possibly damaging	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah3	C	T	7: 119,551,132 (GRCm39)	M3062I	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Elavl2	A	T	4: 91,141,687 (GRCm39)	S278R	possibly damaging	Het
Emilin2	T	C	17: 71,581,950 (GRCm39)	S259G	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Faim2	G	A	15: 99,412,314 (GRCm39)	T140I	probably damaging	Het
Fbxo21	T	C	5: 118,115,031 (GRCm39)	S56P	probably benign	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Foxj2	A	T	6: 122,817,200 (GRCm39)	H509L	probably benign	Het
Fth1	T	A	19: 9,961,576 (GRCm39)	L49Q	probably damaging	Het
Gbp11	C	A	5: 105,476,450 (GRCm39)	E220*	probably null	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm1527	C	A	3: 28,980,796 (GRCm39)	T632N	probably benign	Het
Gm4787	A	T	12: 81,425,694 (GRCm39)	S155T	probably benign	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Helb	T	C	10: 119,941,671 (GRCm39)	Y339C	probably benign	Het
Hs3st4	A	G	7: 123,996,236 (GRCm39)	I301V	probably benign	Het
Hunk	A	G	16: 90,290,368 (GRCm39)	D382G	probably damaging	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il10	T	C	1: 130,947,770 (GRCm39)	L41P	probably damaging	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Krt90	T	C	15: 101,466,794 (GRCm39)	E263G	probably benign	Het
Lama2	C	T	10: 27,040,922 (GRCm39)	C1467Y	probably damaging	Het
Maco1	A	T	4: 134,555,590 (GRCm39)	N294K	possibly damaging	Het
Med24	A	G	11: 98,606,472 (GRCm39)	L330P	probably damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Mtcl1	T	C	17: 66,653,350 (GRCm39)	R1065G	probably damaging	Het
Mtmr14	G	A	6: 113,217,322 (GRCm39)	G38D	probably damaging	Het
Mtus1	T	C	8: 41,535,745 (GRCm39)	E657G	probably damaging	Het
Muc21	T	A	17: 35,932,297 (GRCm39)		probably benign	Het
Myo5c	A	T	9: 75,189,150 (GRCm39)	Q1020L	probably benign	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nckap1	T	C	2: 80,400,494 (GRCm39)	K69R	probably damaging	Het
Nlrp1b	T	C	11: 71,051,912 (GRCm39)	N1012D	probably benign	Het
Ntrk2	A	C	13: 59,007,111 (GRCm39)	K238Q	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or52n2b	T	C	7: 104,565,982 (GRCm39)	N174D	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pfpl	C	T	19: 12,407,237 (GRCm39)	S496L	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pkhd1l1	A	T	15: 44,414,148 (GRCm39)	H2805L	possibly damaging	Het
Pla2g4a	T	C	1: 149,716,427 (GRCm39)	N678S	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Polr1a	T	G	6: 71,913,269 (GRCm39)		probably null	Het
Prl3d3	A	C	13: 27,346,304 (GRCm39)	E180D	probably benign	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Prpf3	A	T	3: 95,751,551 (GRCm39)	D383E	probably benign	Het
Psmc4	A	T	7: 27,748,322 (GRCm39)	L73H	probably damaging	Het
Rapgef3	C	A	15: 97,664,842 (GRCm39)	G7V	probably damaging	Het
Rasl12	G	A	9: 65,318,106 (GRCm39)	G157R	probably damaging	Het
Rnf38	A	C	4: 44,149,098 (GRCm39)	V83G	probably damaging	Het
Rnls	A	C	19: 33,179,944 (GRCm39)	S51A	probably benign	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc12a5	C	T	2: 164,839,067 (GRCm39)	R1072W	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,998,320 (GRCm39)		probably benign	Het
Specc1	T	G	11: 62,009,122 (GRCm39)	S293A	probably benign	Het
Speer2	T	G	16: 69,657,385 (GRCm39)	Q86P	probably benign	Het
Tbc1d15	T	C	10: 115,065,078 (GRCm39)	D169G	probably benign	Het
Tbx20	C	A	9: 24,681,067 (GRCm39)	E142*	probably null	Het
Tcp1	T	A	17: 13,139,699 (GRCm39)	L199H	probably damaging	Het
Tex26	A	T	5: 149,363,204 (GRCm39)	R5W	probably damaging	Het
Tg	C	A	15: 66,700,402 (GRCm39)	A120E	probably damaging	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ush1c	T	C	7: 45,878,905 (GRCm39)	Y74C	probably damaging	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Vps54	C	T	11: 21,227,955 (GRCm39)	T176I	probably damaging	Het
Wdr95	T	C	5: 149,502,627 (GRCm39)		probably null	Het
Zfp81	T	C	17: 33,554,278 (GRCm39)	T179A	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
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'- TCACATCTACCCTGGTGTCTGG -3'
(R):5'- TTCAGAGGAAAGATGGCTGC -3'

Sequencing Primer
(F):5'- GGTGTCTGGCAATTCTACCAAACTG -3'
(R):5'- AGATGGCTGCAGGTATTCCAC -3'

Posted On

2014-09-17