Incidental Mutation 'R4609:Cxcl16'
ID 344534
Institutional Source Beutler Lab
Gene Symbol Cxcl16
Ensembl Gene ENSMUSG00000018920
Gene Name C-X-C motif chemokine ligand 16
Synonyms SR-PSOX/CXCL16, Scavenger Receptor, 0910001K24Rik, SR-PSOX
MMRRC Submission 041820-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R4609 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 70345215-70350810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70346255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 226 (Y226C)
Ref Sequence ENSEMBL: ENSMUSP00000133513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019064] [ENSMUST00000019067] [ENSMUST00000039093] [ENSMUST00000108563] [ENSMUST00000126105] [ENSMUST00000126391] [ENSMUST00000151013] [ENSMUST00000147289]
AlphaFold Q8BSU2
Predicted Effect probably damaging
Transcript: ENSMUST00000019064
AA Change: Y239C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019064
Gene: ENSMUSG00000018920
AA Change: Y239C

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Blast:SCY 32 94 1e-17 BLAST
transmembrane domain 201 223 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000019067
SMART Domains Protein: ENSMUSP00000019067
Gene: ENSMUSG00000018923

DomainStartEndE-ValueType
Pfam:Med11 7 116 2.3e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000039093
SMART Domains Protein: ENSMUSP00000048816
Gene: ENSMUSG00000040829

DomainStartEndE-ValueType
low complexity region 71 85 N/A INTRINSIC
low complexity region 110 126 N/A INTRINSIC
low complexity region 164 186 N/A INTRINSIC
Pfam:zf-MYND 307 353 6.7e-12 PFAM
low complexity region 438 452 N/A INTRINSIC
low complexity region 523 535 N/A INTRINSIC
low complexity region 702 736 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108563
SMART Domains Protein: ENSMUSP00000104203
Gene: ENSMUSG00000040829

DomainStartEndE-ValueType
low complexity region 35 57 N/A INTRINSIC
Pfam:zf-MYND 177 223 2.5e-11 PFAM
low complexity region 308 322 N/A INTRINSIC
low complexity region 393 405 N/A INTRINSIC
low complexity region 572 606 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126105
SMART Domains Protein: ENSMUSP00000134599
Gene: ENSMUSG00000040829

DomainStartEndE-ValueType
low complexity region 71 85 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000126391
AA Change: Y226C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133513
Gene: ENSMUSG00000018920
AA Change: Y226C

DomainStartEndE-ValueType
Blast:SCY 19 81 3e-18 BLAST
transmembrane domain 188 210 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152348
Predicted Effect probably benign
Transcript: ENSMUST00000151013
SMART Domains Protein: ENSMUSP00000134323
Gene: ENSMUSG00000018923

DomainStartEndE-ValueType
Pfam:Med11 8 126 4.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147289
SMART Domains Protein: ENSMUSP00000136813
Gene: ENSMUSG00000040829

DomainStartEndE-ValueType
low complexity region 40 54 N/A INTRINSIC
Meta Mutation Damage Score 0.2379 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 99% (78/79)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit decreased NK T cells, decreased secretion and serum levels of IL4 and IFN-gamma, and decreased inhibition of B16 melanoma cell growth by alpha-galactosylceramide treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
7530416G11Rik T C 15: 85,378,370 (GRCm39) D91G unknown Het
Adam10 T C 9: 70,647,425 (GRCm39) Y42H probably damaging Het
Baiap3 A T 17: 25,469,235 (GRCm39) C183S probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bmp1 C T 14: 70,715,406 (GRCm39) V910M probably benign Het
Brdt G A 5: 107,507,802 (GRCm39) A677T probably benign Het
Cadps2 A T 6: 23,587,578 (GRCm39) M304K probably damaging Het
Car9 A T 4: 43,507,267 (GRCm39) D71V possibly damaging Het
Chml A T 1: 175,514,723 (GRCm39) Y399* probably null Het
Cilk1 T A 9: 78,075,071 (GRCm39) probably benign Het
Clasp1 A G 1: 118,430,765 (GRCm39) probably benign Het
Cntnap5b G A 1: 99,700,572 (GRCm39) probably null Het
Cpvl A T 6: 53,951,605 (GRCm39) probably null Het
Crocc2 G A 1: 93,096,516 (GRCm39) V24M possibly damaging Het
Dio3 G T 12: 110,246,444 (GRCm39) R260L probably damaging Het
Dmxl2 A G 9: 54,353,796 (GRCm39) L724P probably damaging Het
Dnah7a A C 1: 53,495,816 (GRCm39) F3214V possibly damaging Het
Dpy19l4 A T 4: 11,295,999 (GRCm39) Y223* probably null Het
Dpysl4 T C 7: 138,678,537 (GRCm39) V499A probably damaging Het
Ets2 A T 16: 95,512,818 (GRCm39) K101N probably benign Het
Fbn2 A T 18: 58,323,341 (GRCm39) Y200* probably null Het
Fem1c A T 18: 46,639,015 (GRCm39) I329N probably damaging Het
Fhip1b A G 7: 105,037,431 (GRCm39) I384T probably damaging Het
Gm8919 T C 3: 11,724,530 (GRCm39) noncoding transcript Het
H2-Q5 A T 17: 35,616,056 (GRCm39) H206L probably benign Het
Hexa T C 9: 59,464,602 (GRCm39) F164S probably benign Het
Hk1 G T 10: 62,194,194 (GRCm39) probably benign Het
Itih4 G A 14: 30,623,626 (GRCm39) G915R probably damaging Het
Kcnq5 A T 1: 21,475,292 (GRCm39) probably null Het
Krtap10-4 A T 10: 77,662,630 (GRCm39) probably benign Het
Maml3 G T 3: 51,763,013 (GRCm39) H650Q probably damaging Het
Mief1 C A 15: 80,132,454 (GRCm39) P112Q probably benign Het
Morc3 A G 16: 93,661,856 (GRCm39) E472G probably benign Het
Nap1l1 T A 10: 111,328,741 (GRCm39) Y223* probably null Het
Nfix A T 8: 85,453,119 (GRCm39) W312R probably damaging Het
Nfkbie A T 17: 45,869,510 (GRCm39) N155I probably damaging Het
Nlgn2 A T 11: 69,724,912 (GRCm39) M118K probably damaging Het
Nlrp5 A T 7: 23,117,173 (GRCm39) Y299F probably benign Het
Nnt T C 13: 119,494,072 (GRCm39) I556V possibly damaging Het
Oasl2 A T 5: 115,037,857 (GRCm39) I85F possibly damaging Het
Ogg1 A C 6: 113,305,393 (GRCm39) T69P probably damaging Het
Olfml2a G T 2: 38,847,733 (GRCm39) V431L probably damaging Het
Or4d5 T C 9: 40,012,102 (GRCm39) H228R possibly damaging Het
Or5p79 A T 7: 108,221,711 (GRCm39) M231L probably benign Het
Palb2 G T 7: 121,723,946 (GRCm39) A601E probably benign Het
Pcdhb20 G A 18: 37,638,849 (GRCm39) M458I probably benign Het
Pde11a T C 2: 76,121,585 (GRCm39) D332G possibly damaging Het
Pkd1l1 C T 11: 8,908,964 (GRCm39) E347K unknown Het
Pou2af1 G A 9: 51,149,525 (GRCm39) V206I possibly damaging Het
Prr16 A G 18: 51,251,139 (GRCm39) D46G possibly damaging Het
Pus1 A G 5: 110,928,184 (GRCm39) M1T probably null Het
Pygm T A 19: 6,441,439 (GRCm39) V566D possibly damaging Het
Rb1 T A 14: 73,499,954 (GRCm39) probably benign Het
Rhoj A T 12: 75,446,980 (GRCm39) K200* probably null Het
Rnf213 A G 11: 119,328,521 (GRCm39) I1985V possibly damaging Het
Septin11 G T 5: 93,310,113 (GRCm39) M305I possibly damaging Het
Setdb2 T C 14: 59,653,153 (GRCm39) Y383C probably damaging Het
Sfpq G C 4: 126,915,404 (GRCm39) Q65H unknown Het
Skic8 A G 9: 54,635,463 (GRCm39) V46A probably benign Het
Stard3nl G T 13: 19,554,434 (GRCm39) A180E probably damaging Het
Tanc2 A G 11: 105,801,066 (GRCm39) N1094S probably benign Het
Trf C T 9: 103,089,184 (GRCm39) A554T possibly damaging Het
Trmt13 T C 3: 116,388,476 (GRCm39) probably benign Het
Tubb3 A G 8: 124,147,658 (GRCm39) D197G probably damaging Het
Ube2e3 A G 2: 78,749,056 (GRCm39) H135R probably damaging Het
Ugt1a10 A T 1: 87,983,204 (GRCm39) M1L possibly damaging Het
Vmn1r233 A T 17: 21,214,677 (GRCm39) I91N possibly damaging Het
Vmn2r88 A T 14: 51,655,531 (GRCm39) D580V probably damaging Het
Vps33b A G 7: 79,940,866 (GRCm39) Y593C probably benign Het
Wdr19 A G 5: 65,385,885 (GRCm39) T622A possibly damaging Het
Wdr3 C T 3: 100,047,516 (GRCm39) R853Q probably damaging Het
Xirp1 T C 9: 119,845,572 (GRCm39) T1104A probably benign Het
Yipf1 G A 4: 107,201,880 (GRCm39) probably null Het
Zbtb17 A G 4: 141,193,809 (GRCm39) D651G probably damaging Het
Zbtb42 C T 12: 112,646,976 (GRCm39) R384W probably damaging Het
Zbtb43 A T 2: 33,344,055 (GRCm39) M390K probably benign Het
Zfp462 C T 4: 55,011,889 (GRCm39) T1285M probably damaging Het
Other mutations in Cxcl16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02211:Cxcl16 APN 11 70,346,858 (GRCm39) missense possibly damaging 0.65
IGL02867:Cxcl16 APN 11 70,349,892 (GRCm39) missense possibly damaging 0.62
PIT4472001:Cxcl16 UTSW 11 70,349,625 (GRCm39) missense probably damaging 1.00
R0133:Cxcl16 UTSW 11 70,349,596 (GRCm39) missense possibly damaging 0.94
R0415:Cxcl16 UTSW 11 70,349,574 (GRCm39) nonsense probably null
R0732:Cxcl16 UTSW 11 70,346,234 (GRCm39) missense probably damaging 1.00
R0759:Cxcl16 UTSW 11 70,349,954 (GRCm39) missense probably damaging 0.97
R4359:Cxcl16 UTSW 11 70,349,631 (GRCm39) missense possibly damaging 0.81
R4903:Cxcl16 UTSW 11 70,346,519 (GRCm39) missense probably benign 0.22
R4964:Cxcl16 UTSW 11 70,346,519 (GRCm39) missense probably benign 0.22
R5724:Cxcl16 UTSW 11 70,349,990 (GRCm39) missense probably damaging 0.99
R7427:Cxcl16 UTSW 11 70,349,630 (GRCm39) missense possibly damaging 0.90
R8518:Cxcl16 UTSW 11 70,346,510 (GRCm39) missense probably benign 0.13
Z1088:Cxcl16 UTSW 11 70,346,804 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTGGCTTGGACTAAATAACATC -3'
(R):5'- ACCAACCTAGAGCCTTCCTG -3'

Sequencing Primer
(F):5'- GCAGGTCAAAGCTAACCTAGGTTC -3'
(R):5'- AACCTAGAGCCTTCCTGGGAGG -3'
Posted On 2015-09-25