Incidental Mutation 'R1368:Cxcl12'
ID 155875
Institutional Source Beutler Lab
Gene Symbol Cxcl12
Ensembl Gene ENSMUSG00000061353
Gene Name C-X-C motif chemokine ligand 12
Synonyms TLSF-b, PBSF/SDF-1, TLSF-a, Sdf1a, SDF-1, Sdf1, Scyb12, Sdf1b, TPAR1, PBSF
MMRRC Submission 039433-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1368 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 117145496-117158328 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 117153111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073043] [ENSMUST00000112866] [ENSMUST00000112871]
AlphaFold P40224
Predicted Effect unknown
Transcript: ENSMUST00000073043
AA Change: R111G
SMART Domains Protein: ENSMUSP00000072800
Gene: ENSMUSG00000061353
AA Change: R111G

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
SCY 27 86 1.45e-15 SMART
low complexity region 89 118 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112866
SMART Domains Protein: ENSMUSP00000108487
Gene: ENSMUSG00000061353

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
SCY 27 86 1.45e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112871
SMART Domains Protein: ENSMUSP00000108492
Gene: ENSMUSG00000061353

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
SCY 27 86 1.45e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134244
Meta Mutation Damage Score 0.1077 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: This gene encodes a member of the alpha chemokine protein family. The encoded protein is secreted and functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4. The encoded protein plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous null mice display late embryonic lethality, impaired myelopoiesis, abnormal cerebellum development, abnormal germ cell migration, abnormal angiogenesis around the stomach, and ventricular septal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,241,836 (GRCm39) D1233G probably benign Het
Abcc8 G A 7: 45,772,284 (GRCm39) R832W probably damaging Het
Atp10b A G 11: 43,092,981 (GRCm39) T439A probably damaging Het
Brd10 C A 19: 29,693,796 (GRCm39) S1966I probably damaging Het
C130073F10Rik T A 4: 101,747,953 (GRCm39) N74Y possibly damaging Het
Cct8 G A 16: 87,288,200 (GRCm39) S124L probably damaging Het
Cdh9 T A 15: 16,848,568 (GRCm39) probably benign Het
Cep290 C T 10: 100,330,828 (GRCm39) probably benign Het
Chrng T A 1: 87,133,575 (GRCm39) L10H probably damaging Het
Cnn3 T C 3: 121,250,786 (GRCm39) L189S probably benign Het
Cog4 A G 8: 111,585,157 (GRCm39) probably benign Het
Eif2b2 G A 12: 85,270,230 (GRCm39) A257T probably damaging Het
Entrep2 A T 7: 64,469,625 (GRCm39) V41E probably damaging Het
Fanca G A 8: 124,031,020 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,858,903 (GRCm39) Q2341R possibly damaging Het
Fktn G A 4: 53,734,880 (GRCm39) G173R probably damaging Het
Gabbr2 T C 4: 46,674,464 (GRCm39) N841S probably benign Het
Gm5622 T A 14: 51,899,647 (GRCm39) V167E possibly damaging Het
Gnaq T C 19: 16,355,651 (GRCm39) V289A probably benign Het
Gpatch2l T G 12: 86,307,439 (GRCm39) D272E possibly damaging Het
Gzmg G A 14: 56,395,263 (GRCm39) T74I probably benign Het
Ikzf2 G A 1: 69,578,474 (GRCm39) A271V possibly damaging Het
Lig4 T C 8: 10,021,176 (GRCm39) D868G possibly damaging Het
Mfsd6 T C 1: 52,747,764 (GRCm39) E367G possibly damaging Het
Mpz T C 1: 170,987,533 (GRCm39) L223P probably damaging Het
Muc17 T C 5: 137,175,674 (GRCm39) probably benign Het
Or2f1b C A 6: 42,739,613 (GRCm39) T209K possibly damaging Het
Pdcd2 G T 17: 15,746,846 (GRCm39) N104K probably damaging Het
Pigg G T 5: 108,465,154 (GRCm39) G129V probably damaging Het
Ppp3cc T C 14: 70,483,311 (GRCm39) Y254C probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Psg23 A G 7: 18,348,645 (GRCm39) V54A probably benign Het
Psmd3 A G 11: 98,573,746 (GRCm39) D64G probably damaging Het
Psmg2 CTTCAGTT CTTCAGTTCAGTT 18: 67,779,095 (GRCm39) probably null Het
Ptgdr T A 14: 45,090,799 (GRCm39) I320F probably damaging Het
Rad50 T A 11: 53,574,072 (GRCm39) K722* probably null Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rgs9 G A 11: 109,138,977 (GRCm39) S255L probably benign Het
Ror1 C T 4: 100,298,334 (GRCm39) P569L possibly damaging Het
Rsad2 T C 12: 26,497,147 (GRCm39) probably null Het
Scn8a A G 15: 100,933,422 (GRCm39) D1501G probably damaging Het
Sema3c A G 5: 17,883,330 (GRCm39) T313A possibly damaging Het
Serpinc1 T A 1: 160,821,094 (GRCm39) F59L probably damaging Het
Sike1 A G 3: 102,903,500 (GRCm39) D63G possibly damaging Het
Slc25a11 T A 11: 70,536,352 (GRCm39) probably null Het
Slc32a1 A G 2: 158,453,240 (GRCm39) M27V probably benign Het
Smc5 A G 19: 23,187,807 (GRCm39) V1003A probably damaging Het
Tll2 G A 19: 41,108,667 (GRCm39) R328C probably damaging Het
Topaz1 A G 9: 122,577,315 (GRCm39) E75G possibly damaging Het
Tspan3 A T 9: 56,054,783 (GRCm39) V48E probably benign Het
Ugt1a6b T C 1: 88,035,358 (GRCm39) I232T probably benign Het
Unc79 A G 12: 103,122,772 (GRCm39) K2290E probably damaging Het
Vmn1r19 T C 6: 57,381,656 (GRCm39) F70L probably benign Het
Other mutations in Cxcl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02686:Cxcl12 APN 6 117,150,546 (GRCm39) splice site probably benign
R1686:Cxcl12 UTSW 6 117,150,508 (GRCm39) missense probably damaging 0.97
R4570:Cxcl12 UTSW 6 117,145,633 (GRCm39) missense probably benign 0.01
R7882:Cxcl12 UTSW 6 117,148,464 (GRCm39) missense probably damaging 1.00
R8796:Cxcl12 UTSW 6 117,155,553 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- CGACTCGGAAGGCAATGCTGAATG -3'
(R):5'- TTGCCCTTTCCTGGCTAAGCAGAC -3'

Sequencing Primer
(F):5'- GCAATGCTGAATGAAGATTGTG -3'
(R):5'- TTCATAGCTTTAGCAGACAGAGCAG -3'
Posted On 2014-02-11