Incidental Mutation 'R4564:Ccl19'
Institutional Source Beutler Lab
Gene Symbol Ccl19
Ensembl Gene ENSMUSG00000071005
Gene Namechemokine (C-C motif) ligand 19
Synonymsexodus-3, Scya19, CKb11
MMRRC Submission 041789-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R4564 (G1)
Quality Score181
Status Not validated
Chromosomal Location42754525-42756577 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 42756295 bp
Amino Acid Change Serine to Arginine at position 12 (S12R)
Ref Sequence ENSEMBL: ENSMUSP00000100022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068158] [ENSMUST00000102957] [ENSMUST00000107984] [ENSMUST00000140546]
Predicted Effect probably benign
Transcript: ENSMUST00000068158
SMART Domains Protein: ENSMUSP00000068585
Gene: ENSMUSG00000054885

signal peptide 1 16 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102957
AA Change: S12R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100022
Gene: ENSMUSG00000071005
AA Change: S12R

SCY 30 90 5.21e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107984
SMART Domains Protein: ENSMUSP00000103618
Gene: ENSMUSG00000054885

signal peptide 1 16 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134240
Predicted Effect probably damaging
Transcript: ENSMUST00000140546
AA Change: S12R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144891
Gene: ENSMUSG00000071005
AA Change: S12R

signal peptide 1 25 N/A INTRINSIC
SCY 30 90 2.6e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145453
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (58/60)
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in reduced T cell numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad3a C T 4: 155,747,309 probably null Het
Bach2 T G 4: 32,563,338 S602A probably damaging Het
Cfap54 T C 10: 92,839,540 probably benign Het
Cndp1 T A 18: 84,622,286 I265F probably damaging Het
Cnot3 G A 7: 3,653,258 R181H probably damaging Het
Dicer1 T A 12: 104,704,751 K1011* probably null Het
Dip2b G A 15: 100,157,258 W99* probably null Het
Fam129c T C 8: 71,605,060 probably benign Het
Fpr-rs6 A T 17: 20,182,906 Y64* probably null Het
Fubp1 C A 3: 152,222,936 Y480* probably null Het
Gfra1 T C 19: 58,239,250 probably null Het
Gm10770 T C 2: 150,178,911 T229A probably benign Het
Gm826 A C 2: 160,311,993 probably benign Het
Gpd2 G A 2: 57,307,083 V217I possibly damaging Het
Hectd4 T C 5: 121,350,431 I3595T probably benign Het
Lmln A G 16: 33,109,856 E561G probably benign Het
Lrrc71 T A 3: 87,745,408 probably benign Het
Man2a2 T A 7: 80,368,838 Y91F probably benign Het
Map4k4 A G 1: 39,988,975 T319A probably damaging Het
Mcm6 G T 1: 128,343,459 H474Q probably damaging Het
Mn1 C G 5: 111,420,667 N834K possibly damaging Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
Npas2 A G 1: 39,287,566 D44G probably damaging Het
Npc1 C T 18: 12,191,732 G1235R probably damaging Het
Olfml2a C T 2: 38,960,294 T674I probably benign Het
Olfr1311 A G 2: 112,021,767 L29P possibly damaging Het
Plxnb1 C T 9: 109,113,420 A1779V probably benign Het
Ppil3 T A 1: 58,431,322 D123V probably damaging Het
Prr23a3 A G 9: 98,865,137 E48G probably damaging Het
Prr5l T C 2: 101,746,749 E110G probably damaging Het
Ptgir A G 7: 16,906,869 M29V possibly damaging Het
R3hdm1 C T 1: 128,221,659 T839M probably benign Het
Rasgrf2 G A 13: 91,885,654 Q544* probably null Het
Riok3 C A 18: 12,148,879 R302S probably damaging Het
Rnf145 A G 11: 44,548,808 K144E probably benign Het
Sin3b A C 8: 72,753,581 T904P probably damaging Het
Skint4 C T 4: 112,119,869 T152M probably damaging Het
Slc22a2 A G 17: 12,610,056 I350V probably benign Het
Slc6a11 G T 6: 114,131,362 G29V probably benign Het
Speg A C 1: 75,391,834 H676P probably damaging Het
St6gal2 T A 17: 55,482,647 H227Q probably damaging Het
Strn3 A G 12: 51,633,621 S399P probably benign Het
Tbc1d1 A G 5: 64,173,484 E2G probably damaging Het
Tecpr2 T A 12: 110,954,785 M1264K probably benign Het
Tmem8 A G 17: 26,117,863 R252G possibly damaging Het
Trpm6 T C 19: 18,832,597 L1119P possibly damaging Het
Upf2 A C 2: 6,027,312 T890P unknown Het
Upk1b T A 16: 38,780,107 K170N probably benign Het
Vmn1r78 A T 7: 12,152,558 Y32F probably damaging Het
Vps11 A G 9: 44,361,597 F12S probably damaging Het
Zfp318 T A 17: 46,412,815 C1915S possibly damaging Het
Zfp346 A C 13: 55,113,707 R103S probably damaging Het
Other mutations in Ccl19
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5049:Ccl19 UTSW 4 42756268 critical splice donor site probably null
R6988:Ccl19 UTSW 4 42754885 missense probably damaging 1.00
R8040:Ccl19 UTSW 4 42756297 missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-09-24