Mutagenetix > Incidental Mutation

Incidental Mutation 'R8346:Cx3cl1'

645237

Institutional Source

Beutler Lab

Gene Symbol

Cx3cl1

Ensembl Gene

ENSMUSG00000031778

Gene Name

C-X3-C motif chemokine ligand 1

Synonyms

D8Bwg0439e, CX3C, neurotactin, fractalkine, Scyd1

MMRRC Submission

067802-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8346 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95498808-95509055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95507168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 391 (V391A)

Ref Sequence

ENSEMBL: ENSMUSP00000034230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034230] [ENSMUST00000135970] [ENSMUST00000150307] [ENSMUST00000211947] [ENSMUST00000211956]

AlphaFold

O35188

Predicted Effect

probably damaging
Transcript: ENSMUST00000034230
AA Change: V391A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034230
Gene: ENSMUSG00000031778
AA Change: V391A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SCY	29	89	4.23e-17	SMART
low complexity region	132	143	N/A	INTRINSIC
low complexity region	218	236	N/A	INTRINSIC
transmembrane domain	341	360	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135970

Predicted Effect

probably benign
Transcript: ENSMUST00000150307

SMART Domains

Protein: ENSMUSP00000123538
Gene: ENSMUSG00000031778

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211947

Predicted Effect

probably benign
Transcript: ENSMUST00000211956

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele show a specific reduction in Gr1(low) monocyte levels, and increased neuronal cell loss in a neurotoxin (MPTP)-induced model of Parkinson disease. Mice homozygous for a different knock-out allele are less susceptible to cerebral ischemia-reperfusion injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	G	14: 59,380,221 (GRCm39)	S26P	probably damaging	Het
Aco1	T	A	4: 40,177,876 (GRCm39)	M299K	probably damaging	Het
Acox1	G	T	11: 116,069,099 (GRCm39)	T382N	possibly damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
App	G	T	16: 84,900,145 (GRCm39)	R102S	unknown	Het
Chd1l	T	C	3: 97,469,959 (GRCm39)	N856D	probably benign	Het
Col11a1	A	G	3: 114,005,818 (GRCm39)	D1650G	unknown	Het
Cyp11b2	T	C	15: 74,723,617 (GRCm39)	Y378C	probably damaging	Het
Cyp26b1	T	C	6: 84,554,150 (GRCm39)	S156G	probably benign	Het
Cyp3a11	C	T	5: 145,795,612 (GRCm39)	M446I	probably damaging	Het
D7Ertd443e	G	A	7: 133,950,485 (GRCm39)	T396I	possibly damaging	Het
Dusp4	C	A	8: 35,275,092 (GRCm39)	N70K	possibly damaging	Het
Dync1h1	G	A	12: 110,632,226 (GRCm39)	A4499T	probably benign	Het
Eno2	T	C	6: 124,740,758 (GRCm39)	D266G	possibly damaging	Het
Eomes	T	C	9: 118,314,036 (GRCm39)	S694P	probably benign	Het
Fmo4	A	G	1: 162,621,792 (GRCm39)	V473A	probably benign	Het
Fmo5	T	A	3: 97,552,962 (GRCm39)	N303K	probably damaging	Het
Garin1b	G	A	6: 29,334,030 (GRCm39)	C296Y	probably damaging	Het
Gdf10	A	G	14: 33,653,802 (GRCm39)	E103G	probably benign	Het
Gjb6	T	C	14: 57,362,259 (GRCm39)	M1V	probably null	Het
Gm17067	A	G	7: 42,358,073 (GRCm39)	L143P	probably damaging	Het
Helz	A	G	11: 107,563,399 (GRCm39)	D1613G	unknown	Het
Hmgn3	T	C	9: 82,993,159 (GRCm39)	K50E	probably damaging	Het
Hoxc11	G	A	15: 102,863,186 (GRCm39)	G76S	possibly damaging	Het
Ighv1-9	A	T	12: 114,547,448 (GRCm39)	M31K	probably benign	Het
Ighv2-2	A	T	12: 113,552,189 (GRCm39)	C16*	probably null	Het
Kidins220	T	G	12: 25,086,533 (GRCm39)	F989C	probably damaging	Het
Krtap28-13	A	G	1: 83,039,086 (GRCm39)	K124E	unknown	Het
Mast4	A	G	13: 102,887,986 (GRCm39)	V1141A	probably damaging	Het
Myb	A	T	10: 21,002,136 (GRCm39)	M735K	probably benign	Het
Myo3a	T	A	2: 22,448,434 (GRCm39)		probably null	Het
Naa60	G	A	16: 3,718,507 (GRCm39)	G113D	probably damaging	Het
Nfatc1	T	C	18: 80,725,382 (GRCm39)	I461V	probably benign	Het
Nphp4	C	A	4: 152,645,778 (GRCm39)	A1262D	probably damaging	Het
Obscn	A	T	11: 58,976,007 (GRCm39)	V2040E	possibly damaging	Het
Or1j4	A	G	2: 36,740,351 (GRCm39)	I98V	probably benign	Het
Or9a2	A	G	6: 41,749,057 (GRCm39)	Y59H	probably damaging	Het
Ormdl1	T	A	1: 53,344,626 (GRCm39)	F63I	possibly damaging	Het
Otulinl	A	G	15: 27,664,644 (GRCm39)	Y76H	probably damaging	Het
Phc1	C	T	6: 122,302,774 (GRCm39)	V250M	probably damaging	Het
Pik3c2b	G	A	1: 133,017,984 (GRCm39)	V949M	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prmt8	T	A	6: 127,688,810 (GRCm39)	M187L	probably damaging	Het
Ptpn3	T	C	4: 57,225,547 (GRCm39)	I513V	probably damaging	Het
Rad17	A	C	13: 100,781,681 (GRCm39)	S39A	possibly damaging	Het
Rbck1	T	C	2: 152,160,700 (GRCm39)	Y412C	probably damaging	Het
Rfc3	C	A	5: 151,569,100 (GRCm39)	M152I	probably damaging	Het
Scn11a	C	A	9: 119,608,047 (GRCm39)	C1028F	probably damaging	Het
Sfmbt2	C	A	2: 10,466,236 (GRCm39)	P357Q	probably damaging	Het
Slc22a6	C	G	19: 8,599,169 (GRCm39)	R267G	probably damaging	Het
St3gal1	G	A	15: 66,985,511 (GRCm39)	R48C	probably damaging	Het
Stmnd1	A	G	13: 46,452,936 (GRCm39)	N204S	probably benign	Het
Tdrd1	T	C	19: 56,830,699 (GRCm39)	V244A	probably benign	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r25	T	C	6: 123,802,350 (GRCm39)	T518A	probably benign	Het
Xdh	T	C	17: 74,220,938 (GRCm39)	D597G	probably damaging	Het
Zfp457	G	A	13: 67,441,862 (GRCm39)	Q238*	probably null	Het
Zfp647	T	C	15: 76,795,928 (GRCm39)	D244G	probably damaging	Het
Zfp870	T	A	17: 33,102,843 (GRCm39)	E162V	possibly damaging	Het

Other mutations in Cx3cl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Cx3cl1	APN	8	95,504,701 (GRCm39)	missense	probably damaging	0.99
IGL02044:Cx3cl1	APN	8	95,507,168 (GRCm39)	missense	probably damaging	1.00
IGL02309:Cx3cl1	APN	8	95,506,660 (GRCm39)	missense	probably benign
R1749:Cx3cl1	UTSW	8	95,506,789 (GRCm39)	splice site	probably null
R1876:Cx3cl1	UTSW	8	95,507,048 (GRCm39)	missense	probably damaging	1.00
R1905:Cx3cl1	UTSW	8	95,506,687 (GRCm39)	missense	probably benign	0.03
R2131:Cx3cl1	UTSW	8	95,506,201 (GRCm39)	missense	probably benign	0.03
R3547:Cx3cl1	UTSW	8	95,504,752 (GRCm39)	missense	possibly damaging	0.66
R3826:Cx3cl1	UTSW	8	95,503,934 (GRCm39)	intron	probably benign
R3827:Cx3cl1	UTSW	8	95,503,934 (GRCm39)	intron	probably benign
R3828:Cx3cl1	UTSW	8	95,503,934 (GRCm39)	intron	probably benign
R3829:Cx3cl1	UTSW	8	95,503,934 (GRCm39)	intron	probably benign
R4461:Cx3cl1	UTSW	8	95,507,184 (GRCm39)	makesense	probably null
R4705:Cx3cl1	UTSW	8	95,506,835 (GRCm39)	missense	probably benign	0.32
R4998:Cx3cl1	UTSW	8	95,507,053 (GRCm39)	missense	probably damaging	1.00
R5165:Cx3cl1	UTSW	8	95,506,504 (GRCm39)	missense	probably benign	0.04
R7150:Cx3cl1	UTSW	8	95,506,591 (GRCm39)	missense	probably damaging	1.00
R7726:Cx3cl1	UTSW	8	95,506,867 (GRCm39)	missense	probably damaging	1.00
R8677:Cx3cl1	UTSW	8	95,506,443 (GRCm39)	missense	probably benign	0.43
R8706:Cx3cl1	UTSW	8	95,506,876 (GRCm39)	missense	probably benign	0.21
R8707:Cx3cl1	UTSW	8	95,506,375 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGAAACTGAGTGTGCTTATCAC -3'
(R):5'- AATAGTGGTCTAGGGTGGCC -3'

Sequencing Primer
(F):5'- AGTGTGCTTATCACTCCTGTC -3'
(R):5'- CTGTCCGAATCACACTCT -3'

Posted On

2020-09-02