Incidental Mutation 'R5830:Il34'
ID 449271
Institutional Source Beutler Lab
Gene Symbol Il34
Ensembl Gene ENSMUSG00000031750
Gene Name interleukin 34
Synonyms 2010004A03Rik
MMRRC Submission 043219-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5830 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 111468461-111532556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111475323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 71 (V71A)
Ref Sequence ENSEMBL: ENSMUSP00000114398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076846] [ENSMUST00000150680]
AlphaFold Q8R1R4
PDB Structure Crystal structure of mouse Interleukin-34 [X-RAY DIFFRACTION]
Structure of mouse Interleukin-34 in complex with mouse FMS [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000076846
AA Change: V71A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076120
Gene: ENSMUSG00000031750
AA Change: V71A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:IL34 28 184 2e-79 PFAM
low complexity region 219 235 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000150680
AA Change: V71A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114398
Gene: ENSMUSG00000031750
AA Change: V71A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:IL34 23 155 4.6e-64 PFAM
low complexity region 197 208 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interleukin-34 is a cytokine that promotes the differentiation and viability of monocytes and macrophages through the colony-stimulating factor-1 receptor (CSF1R; MIM 164770) (Lin et al., 2008 [PubMed 18467591]).[supplied by OMIM, May 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced Langerhans cells and microglial cells in the skin and brain, respectively, with decreased susceptibility to type IV hypersensitivity reaction and fungal infection but increased susceptibility to viral infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apobec3 A T 15: 79,783,268 (GRCm39) N115I possibly damaging Het
Arl14ep T C 2: 106,799,539 (GRCm39) S101G possibly damaging Het
Atp6v0a2 C T 5: 124,779,485 (GRCm39) T200I probably damaging Het
Ccdc40 C A 11: 119,133,572 (GRCm39) H571N probably benign Het
Cdc42bpb G A 12: 111,312,016 (GRCm39) R99* probably null Het
Cdyl2 A G 8: 117,321,823 (GRCm39) Y235H probably benign Het
Chmp2a T C 7: 12,766,039 (GRCm39) D161G probably damaging Het
Ep400 A T 5: 110,831,862 (GRCm39) W2091R unknown Het
Epha8 G A 4: 136,663,701 (GRCm39) Q452* probably null Het
Fbn2 A G 18: 58,247,541 (GRCm39) F451S probably benign Het
Fndc1 C A 17: 8,007,918 (GRCm39) R72L possibly damaging Het
Gfpt2 A G 11: 49,699,888 (GRCm39) E81G probably benign Het
Gpr155 A G 2: 73,200,433 (GRCm39) V358A possibly damaging Het
Hnrnpk A T 13: 58,545,548 (GRCm39) Y92* probably null Het
Inpp5e A G 2: 26,290,427 (GRCm39) F416L probably damaging Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Kdsr A G 1: 106,675,262 (GRCm39) S125P possibly damaging Het
Ldb1 T A 19: 46,022,557 (GRCm39) M307L probably benign Het
Lrr1 T A 12: 69,225,445 (GRCm39) S374T possibly damaging Het
Mtmr2 A G 9: 13,713,274 (GRCm39) I412V probably benign Het
Ncor1 T C 11: 62,235,589 (GRCm39) I298V possibly damaging Het
Ndst1 A G 18: 60,836,910 (GRCm39) F384L probably damaging Het
Nlrc5 A G 8: 95,199,542 (GRCm39) E51G probably damaging Het
Obox6 G A 7: 15,568,382 (GRCm39) H165Y possibly damaging Het
Or5k17 T A 16: 58,746,457 (GRCm39) H159L possibly damaging Het
Pde8b A T 13: 95,178,398 (GRCm39) F582Y probably benign Het
Pik3r4 C A 9: 105,522,023 (GRCm39) Y196* probably null Het
Pink1 A T 4: 138,043,325 (GRCm39) M1K probably null Het
Scn7a A T 2: 66,544,395 (GRCm39) Y365* probably null Het
Sec16a A T 2: 26,330,853 (GRCm39) D387E probably benign Het
Sel1l A T 12: 91,799,945 (GRCm39) F127Y probably damaging Het
Syt7 T A 19: 10,399,151 (GRCm39) N82K probably damaging Het
Zfp358 G T 8: 3,545,846 (GRCm39) V143L probably benign Het
Zkscan2 T C 7: 123,079,323 (GRCm39) N878S possibly damaging Het
Other mutations in Il34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Il34 APN 8 111,469,375 (GRCm39) missense possibly damaging 0.83
IGL01420:Il34 APN 8 111,469,345 (GRCm39) missense probably damaging 1.00
R0525:Il34 UTSW 8 111,474,915 (GRCm39) missense probably damaging 1.00
R5978:Il34 UTSW 8 111,469,317 (GRCm39) missense probably damaging 1.00
R6189:Il34 UTSW 8 111,469,350 (GRCm39) missense probably benign 0.00
R6552:Il34 UTSW 8 111,469,059 (GRCm39) missense probably benign 0.02
R7991:Il34 UTSW 8 111,476,122 (GRCm39) missense probably benign 0.01
R8023:Il34 UTSW 8 111,469,284 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CATGCATTTGCCACTGCCTG -3'
(R):5'- CAGTTGTCCAGATCTGACCTC -3'

Sequencing Primer
(F):5'- TGGGACCCATCACAGTCAC -3'
(R):5'- CTCTCAGTAGAGGACCTGTCTG -3'
Posted On 2016-12-20