Mutagenetix > Incidental Mutation

Incidental Mutation 'R7726:Cx3cl1'

595498

Institutional Source

Beutler Lab

Gene Symbol

Cx3cl1

Ensembl Gene

ENSMUSG00000031778

Gene Name

chemokine (C-X3-C motif) ligand 1

Synonyms

D8Bwg0439e, neurotactin, fractalkine, CX3C, Scyd1

MMRRC Submission

045782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94772009-94782427 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94780239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 291 (S291P)

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: S291P

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

SMART Domains

Protein: ENSMUSP00000034230
Gene: ENSMUSG00000031778
AA Change: S291P

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: 98.8%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	C	A	1: 26,684,498 (GRCm38)	A534S	probably benign	Het
A230050P20Rik	T	C	9: 20,873,165 (GRCm38)	Y182H	possibly damaging	Het
Adam34	T	G	8: 43,651,171 (GRCm38)	N479T	probably damaging	Het
Add3	C	G	19: 53,239,461 (GRCm38)	L526V	probably damaging	Het
Alas1	T	C	9: 106,246,951 (GRCm38)	T3A	probably benign	Het
Arap3	C	T	18: 37,989,467 (GRCm38)	D579N	probably damaging	Het
Armc6	C	A	8: 70,222,598 (GRCm38)	D326Y	probably damaging	Het
Atp6v1e2	G	A	17: 86,944,385 (GRCm38)	T195I	probably damaging	Het
Atrnl1	A	G	19: 57,702,072 (GRCm38)	E904G	probably damaging	Het
Bhlhe40	T	A	6: 108,662,598 (GRCm38)	D112E	probably benign	Het
Brf1	T	G	12: 112,964,245 (GRCm38)	K438T	probably benign	Het
Cabs1	A	T	5: 87,980,286 (GRCm38)	E265D	probably damaging	Het
Ccdc162	T	A	10: 41,553,075 (GRCm38)	M1937L	probably benign	Het
Cd55b	A	T	1: 130,411,493 (GRCm38)	S299R	possibly damaging	Het
Chordc1	A	G	9: 18,302,214 (GRCm38)	*120W	probably null	Het
Col17a1	C	A	19: 47,655,190 (GRCm38)		probably null	Het
Cpne8	A	T	15: 90,501,418 (GRCm38)	I469K	possibly damaging	Het
Crtac1	G	T	19: 42,302,251 (GRCm38)	S337*	probably null	Het
Dhx36	G	T	3: 62,488,968 (GRCm38)	Q423K	probably benign	Het
Eif3h	G	T	15: 51,786,823 (GRCm38)	Q322K	possibly damaging	Het
Ero1lb	A	G	13: 12,605,833 (GRCm38)	*494W	probably null	Het
Exph5	G	A	9: 53,373,175 (GRCm38)	V519I	possibly damaging	Het
Fam184a	C	A	10: 53,633,706 (GRCm38)	E126*	probably null	Het
Fam208a	C	A	14: 27,447,497 (GRCm38)	N338K	probably damaging	Het
Fam222b	A	G	11: 78,153,751 (GRCm38)	D46G	probably damaging	Het
Fbxl6	C	A	15: 76,535,886 (GRCm38)	R509L	probably damaging	Het
Fgf14	T	C	14: 124,136,244 (GRCm38)	Y86C	probably damaging	Het
Fras1	A	T	5: 96,712,451 (GRCm38)	I2119F	probably benign	Het
Gm14085	A	G	2: 122,486,733 (GRCm38)	E25G	probably damaging	Het
Gpr37	G	A	6: 25,669,117 (GRCm38)	T576I	possibly damaging	Het
Hnrnpul2	G	T	19: 8,831,280 (GRCm38)	R702L	possibly damaging	Het
Iqgap1	T	C	7: 80,757,456 (GRCm38)	N342S	probably benign	Het
Kcnh6	T	C	11: 106,017,575 (GRCm38)	V339A	probably benign	Het
Klk1b9	A	T	7: 43,978,416 (GRCm38)	N46I	possibly damaging	Het
Kndc1	C	A	7: 139,939,838 (GRCm38)	S1703R	possibly damaging	Het
Lyn	C	A	4: 3,756,428 (GRCm38)	Y306*	probably null	Het
Manba	C	T	3: 135,518,009 (GRCm38)	T219M	probably benign	Het
Mastl	T	C	2: 23,140,795 (GRCm38)		probably null	Het
Med15	T	G	16: 17,655,174 (GRCm38)	M550L	possibly damaging	Het
Men1	G	A	19: 6,337,282 (GRCm38)		probably null	Het
Mettl11b	A	G	1: 163,703,184 (GRCm38)	C229R	probably benign	Het
Msh4	C	T	3: 153,866,320 (GRCm38)		probably null	Het
Myh6	G	T	14: 54,965,365 (GRCm38)	D32E	probably damaging	Het
Ntn4	A	G	10: 93,733,682 (GRCm38)	D419G	possibly damaging	Het
Nup155	C	T	15: 8,122,139 (GRCm38)	P393S	probably damaging	Het
Olfr1389	T	A	11: 49,430,900 (GRCm38)	C141*	probably null	Het
Olfr1415	A	T	1: 92,491,307 (GRCm38)	F149L	probably benign	Het
Palm2	C	T	4: 57,709,876 (GRCm38)	P274S	probably damaging	Het
Papss2	A	T	19: 32,634,003 (GRCm38)		probably null	Het
Pcdhgc3	T	C	18: 37,806,879 (GRCm38)	V111A	possibly damaging	Het
Pcnx2	C	T	8: 125,850,330 (GRCm38)	V988I	probably benign	Het
Pom121	C	T	5: 135,378,148 (GRCm38)	G1178S	probably damaging	Het
Prss33	A	G	17: 23,834,229 (GRCm38)	C213R	probably damaging	Het
Scap	G	A	9: 110,378,367 (GRCm38)		probably null	Het
Sirpb1c	T	A	3: 15,848,386 (GRCm38)	I10F	possibly damaging	Het
Spink5	T	C	18: 43,963,352 (GRCm38)	L16P	probably damaging	Het
Stk4	T	G	2: 164,110,226 (GRCm38)	M1R	probably null	Het
Stub1	A	T	17: 25,831,132 (GRCm38)	Y253*	probably null	Het
Tbce	A	G	13: 14,029,290 (GRCm38)	V29A	probably damaging	Het
Tchhl1	A	G	3: 93,471,758 (GRCm38)	R590G	probably benign	Het
Tmem173	C	T	18: 35,735,265 (GRCm38)	A261T	probably damaging	Het
Ubr4	C	T	4: 139,458,920 (GRCm38)	P613L	unknown	Het
Vmn2r3	G	T	3: 64,275,518 (GRCm38)	C253*	probably null	Het
Wfdc8	C	A	2: 164,599,986 (GRCm38)	E215D	possibly damaging	Het
Zfp874b	T	C	13: 67,473,856 (GRCm38)	D441G	probably benign	Het
Zscan4d	G	T	7: 11,165,242 (GRCm38)	P36Q	possibly damaging	Het

Other mutations in Cx3cl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Cx3cl1	APN	8	94,778,073 (GRCm38)	missense	probably damaging	0.99
IGL02044:Cx3cl1	APN	8	94,780,540 (GRCm38)	missense	probably damaging	1.00
IGL02309:Cx3cl1	APN	8	94,780,032 (GRCm38)	missense	probably benign
R1749:Cx3cl1	UTSW	8	94,780,161 (GRCm38)	splice site	probably null
R1876:Cx3cl1	UTSW	8	94,780,420 (GRCm38)	missense	probably damaging	1.00
R1905:Cx3cl1	UTSW	8	94,780,059 (GRCm38)	missense	probably benign	0.03
R2131:Cx3cl1	UTSW	8	94,779,573 (GRCm38)	missense	probably benign	0.03
R3547:Cx3cl1	UTSW	8	94,778,124 (GRCm38)	missense	possibly damaging	0.66
R3826:Cx3cl1	UTSW	8	94,777,306 (GRCm38)	intron	probably benign
R3827:Cx3cl1	UTSW	8	94,777,306 (GRCm38)	intron	probably benign
R3828:Cx3cl1	UTSW	8	94,777,306 (GRCm38)	intron	probably benign
R3829:Cx3cl1	UTSW	8	94,777,306 (GRCm38)	intron	probably benign
R4461:Cx3cl1	UTSW	8	94,780,556 (GRCm38)	makesense	probably null
R4705:Cx3cl1	UTSW	8	94,780,207 (GRCm38)	missense	probably benign	0.32
R4998:Cx3cl1	UTSW	8	94,780,425 (GRCm38)	missense	probably damaging	1.00
R5165:Cx3cl1	UTSW	8	94,779,876 (GRCm38)	missense	probably benign	0.04
R7150:Cx3cl1	UTSW	8	94,779,963 (GRCm38)	missense	probably damaging	1.00
R8346:Cx3cl1	UTSW	8	94,780,540 (GRCm38)	missense	probably damaging	1.00
R8677:Cx3cl1	UTSW	8	94,779,815 (GRCm38)	missense	probably benign	0.43
R8706:Cx3cl1	UTSW	8	94,780,248 (GRCm38)	missense	probably benign	0.21
R8707:Cx3cl1	UTSW	8	94,779,747 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCACCTTCAACCCCAGAGG -3'
(R):5'- CCTGAAGGCTCTGGTAAGCAAAC -3'

Sequencing Primer
(F):5'- CTTCAACCCCAGAGGAAAATGTTGG -3'
(R):5'- GCTCTGGTAAGCAAACATGGCC -3'

Posted On

2019-11-12