Incidental Mutation 'R7882:Cxcl12'
ID 608819
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 045934-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7882 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 117145496-117158328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117148464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 28 (Y28C)
Ref Sequence ENSEMBL: ENSMUSP00000072800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073043] [ENSMUST00000112866] [ENSMUST00000112871]
AlphaFold P40224
Predicted Effect probably damaging
Transcript: ENSMUST00000073043
AA Change: Y28C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072800
Gene: ENSMUSG00000061353
AA Change: Y28C

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 damaging
Transcript: ENSMUST00000112866
AA Change: Y28C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108487
Gene: ENSMUSG00000061353
AA Change: Y28C

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
SCY 27 86 1.45e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112871
AA Change: Y28C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108492
Gene: ENSMUSG00000061353
AA Change: Y28C

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
SCY 27 86 1.45e-15 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (48/48)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,644,250 (GRCm39) E110* probably null Het
Adad1 G T 3: 37,133,951 (GRCm39) V289F probably damaging Het
Adgra2 A G 8: 27,607,440 (GRCm39) D717G probably benign Het
Arid3b T C 9: 57,703,780 (GRCm39) I389M possibly damaging Het
Axdnd1 A G 1: 156,225,023 (GRCm39) V47A Het
Cachd1 T A 4: 100,824,244 (GRCm39) L562M probably benign Het
Cadm2 A T 16: 66,528,357 (GRCm39) I326N probably benign Het
Ccpg1 T C 9: 72,922,787 (GRCm39) F799S probably damaging Het
Ces1c T C 8: 93,833,231 (GRCm39) I411M probably benign Het
Cgn T G 3: 94,669,941 (GRCm39) K1066N probably damaging Het
Cntn4 A G 6: 106,330,684 (GRCm39) I101V probably benign Het
Cntrl A G 2: 35,060,592 (GRCm39) E1928G probably benign Het
Cyp2r1 A T 7: 114,153,824 (GRCm39) probably null Het
D430041D05Rik C T 2: 104,087,974 (GRCm39) W334* probably null Het
Dsp G A 13: 38,367,994 (GRCm39) R671Q possibly damaging Het
Fancm A G 12: 65,173,568 (GRCm39) K1960R probably benign Het
Fgd5 T A 6: 92,045,459 (GRCm39) Y1331N probably damaging Het
Ina G A 19: 47,004,100 (GRCm39) E303K Het
Kctd3 C A 1: 188,715,243 (GRCm39) V369F possibly damaging Het
Kif14 T C 1: 136,399,314 (GRCm39) probably null Het
Kif14 T C 1: 136,443,763 (GRCm39) V1312A probably benign Het
Krt84 T C 15: 101,436,826 (GRCm39) I403V probably benign Het
Krtap9-1 A C 11: 99,764,356 (GRCm39) T31P unknown Het
Lyrm9 A T 11: 78,728,967 (GRCm39) I60F probably damaging Het
Mast1 A G 8: 85,639,947 (GRCm39) probably null Het
Mmp28 T C 11: 83,334,752 (GRCm39) D334G probably damaging Het
Nr1h5 T C 3: 102,856,931 (GRCm39) T194A possibly damaging Het
Nrf1 A G 6: 30,090,299 (GRCm39) I85M probably benign Het
Nrp2 C T 1: 62,822,680 (GRCm39) R758C probably damaging Het
Or5b116 A T 19: 13,422,951 (GRCm39) T192S probably benign Het
Pcdhga4 A G 18: 37,819,681 (GRCm39) D410G probably damaging Het
Pld1 T C 3: 28,099,158 (GRCm39) V275A probably damaging Het
Plxnc1 A T 10: 94,679,698 (GRCm39) F895I probably benign Het
Polr2a A G 11: 69,627,000 (GRCm39) I1486T possibly damaging Het
Ptprz1 A G 6: 23,002,256 (GRCm39) M1449V probably benign Het
Rspo4 C A 2: 151,711,746 (GRCm39) T156N probably damaging Het
Sacs A G 14: 61,444,520 (GRCm39) I2189V probably benign Het
Stat5b A C 11: 100,674,601 (GRCm39) F711V possibly damaging Het
Stk11ip C A 1: 75,506,108 (GRCm39) Q543K probably benign Het
Tarbp1 G A 8: 127,183,232 (GRCm39) T529M probably damaging Het
Thada A T 17: 84,736,624 (GRCm39) C886S possibly damaging Het
Tmem19 A G 10: 115,179,608 (GRCm39) F296S probably benign Het
Tnfsf13b A G 8: 10,057,078 (GRCm39) N79S not run Het
Vdac3 C A 8: 23,069,073 (GRCm39) G214C probably damaging Het
Vmn2r18 A C 5: 151,485,329 (GRCm39) F722V probably damaging Het
Vmn2r45 A G 7: 8,486,409 (GRCm39) L293S possibly damaging Het
Vmn2r88 C G 14: 51,650,503 (GRCm39) A72G probably benign Het
Xpot A G 10: 121,454,996 (GRCm39) probably null Het
Zfp526 G A 7: 24,920,860 (GRCm39) probably benign Het
Zfp532 A G 18: 65,756,561 (GRCm39) T165A probably benign Het
Other mutations in Cxcl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02686:Cxcl12 APN 6 117,150,546 (GRCm39) splice site probably benign
R1368:Cxcl12 UTSW 6 117,153,111 (GRCm39) intron 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
R8796:Cxcl12 UTSW 6 117,155,553 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TGAGCCCAGTCAGATCTCAC -3'
(R):5'- TGATGGCATATCAGTGTCCCC -3'

Sequencing Primer
(F):5'- AGATCTCACTGTGATCCCTGG -3'
(R):5'- CATATCAGTGTCCCCGTGGTG -3'
Posted On 2019-12-20