Incidental Mutation 'R8040:Ccl19'
ID 618460
Institutional Source Beutler Lab
Gene Symbol Ccl19
Ensembl Gene ENSMUSG00000071005
Gene Name C-C motif chemokine ligand 19
Synonyms Scya19, Gm2023, CKb11, exodus-3
MMRRC Submission 067477-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8040 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 42754525-42756558 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42756297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 12 (S12G)
Ref Sequence ENSEMBL: ENSMUSP00000100022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068158] [ENSMUST00000102957] [ENSMUST00000107984] [ENSMUST00000140546]
AlphaFold O70460
Predicted Effect probably benign
Transcript: ENSMUST00000068158
SMART Domains Protein: ENSMUSP00000068585
Gene: ENSMUSG00000054885

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102957
AA Change: S12G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100022
Gene: ENSMUSG00000071005
AA Change: S12G

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

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000140546
AA Change: S12G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144891
Gene: ENSMUSG00000071005
AA Change: S12G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SCY 30 90 2.6e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (47/47)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,765,035 (GRCm39) D675V probably benign Het
Adam21 T C 12: 81,607,211 (GRCm39) R184G probably benign Het
Adcy10 A G 1: 165,379,593 (GRCm39) K952E probably damaging Het
Allc A T 12: 28,605,351 (GRCm39) I316N probably damaging Het
Ano8 T C 8: 71,934,812 (GRCm39) T432A probably benign Het
Cadps2 C A 6: 23,412,942 (GRCm39) probably benign Het
Camsap2 T C 1: 136,208,985 (GRCm39) S168G Het
Cfap91 A G 16: 38,140,733 (GRCm39) S407P possibly damaging Het
Cltc A G 11: 86,616,031 (GRCm39) S412P probably damaging Het
Cwc25 A G 11: 97,641,696 (GRCm39) probably null Het
Cxcr4 A G 1: 128,517,535 (GRCm39) F42S probably damaging Het
Cyp4a12a A G 4: 115,183,412 (GRCm39) Q177R probably benign Het
Dnal4 T C 15: 79,646,169 (GRCm39) T112A probably benign Het
Dock9 C A 14: 121,889,206 (GRCm39) G304C probably benign Het
Evpl T C 11: 116,113,758 (GRCm39) T1311A probably damaging Het
Fat4 T C 3: 39,035,815 (GRCm39) Y3156H probably damaging Het
Golgb1 A G 16: 36,733,841 (GRCm39) I1070M possibly damaging Het
Hcls1 A G 16: 36,771,511 (GRCm39) D139G probably damaging Het
Ighv1-7 A G 12: 114,502,390 (GRCm39) S26P probably benign Het
Il1r1 A T 1: 40,352,509 (GRCm39) T563S probably benign Het
Kcna1 C T 6: 126,619,703 (GRCm39) D206N probably benign Het
Kcnk4 A G 19: 6,904,995 (GRCm39) Y219H probably damaging Het
Kcnt2 G A 1: 140,377,955 (GRCm39) A403T probably damaging Het
Mdp1 T A 14: 55,897,523 (GRCm39) N44I probably benign Het
Nceh1 A G 3: 27,295,374 (GRCm39) N212D probably benign Het
Nynrin G A 14: 56,108,982 (GRCm39) G1363D probably benign Het
Or5d20-ps1 T A 2: 87,931,703 (GRCm39) R209S unknown Het
Or6n1 T C 1: 173,916,723 (GRCm39) I39T possibly damaging Het
Or6x1 A G 9: 40,098,717 (GRCm39) H102R probably damaging Het
Or8d1 T A 9: 38,766,460 (GRCm39) I34N probably damaging Het
Parp2 T A 14: 51,047,630 (GRCm39) M47K probably benign Het
Pfdn6 T C 17: 34,158,951 (GRCm39) probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plb1 T A 5: 32,430,413 (GRCm39) H123Q possibly damaging Het
Pml C A 9: 58,141,968 (GRCm39) R288L probably benign Het
Prodh2 A G 7: 30,205,836 (GRCm39) D238G probably damaging Het
Rad51ap2 T A 12: 11,508,792 (GRCm39) S905T probably benign Het
Sclt1 C T 3: 41,611,811 (GRCm39) R487H probably damaging Het
Serpina3b A G 12: 104,097,335 (GRCm39) I205M probably benign Het
Sowahb A G 5: 93,191,292 (GRCm39) S476P possibly damaging Het
Srgap3 C T 6: 112,716,325 (GRCm39) R625H probably benign Het
Tent4a A G 13: 69,648,600 (GRCm39) Y719H probably damaging Het
Tnxb T C 17: 34,935,532 (GRCm39) Y2611H probably damaging Het
Uggt1 T C 1: 36,250,554 (GRCm39) E237G possibly damaging Het
Vmn1r87 T A 7: 12,866,086 (GRCm39) Y67F possibly damaging Het
Vmn2r107 G A 17: 20,595,808 (GRCm39) C787Y probably damaging Het
Zscan4-ps3 T A 7: 11,346,600 (GRCm39) I212N probably damaging Het
Other mutations in Ccl19
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4564:Ccl19 UTSW 4 42,756,295 (GRCm39) missense probably damaging 1.00
R5049:Ccl19 UTSW 4 42,756,268 (GRCm39) critical splice donor site probably null
R6988:Ccl19 UTSW 4 42,754,885 (GRCm39) missense probably damaging 1.00
R9365:Ccl19 UTSW 4 42,756,288 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCCACATTGGAATCCTGG -3'
(R):5'- ACTTGCACTTGGCTCCTGAAC -3'

Sequencing Primer
(F):5'- GGCACATTCATATTGACAGGC -3'
(R):5'- GGCTCCTGAACCCCTTCACG -3'
Posted On 2020-01-23