Incidental Mutation 'R7991:Il34'
ID 651742
Institutional Source Beutler Lab
Gene Symbol Il34
Ensembl Gene ENSMUSG00000031750
Gene Name interleukin 34
Synonyms 2010004A03Rik
MMRRC Submission 046032-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R7991 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 111468461-111532556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111476122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 33 (K33E)
Ref Sequence ENSEMBL: ENSMUSP00000076120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076846] [ENSMUST00000150680]
AlphaFold Q8R1R4
Predicted Effect probably benign
Transcript: ENSMUST00000076846
AA Change: K33E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000076120
Gene: ENSMUSG00000031750
AA Change: K33E

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 benign
Transcript: ENSMUST00000150680
AA Change: K33E

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114398
Gene: ENSMUSG00000031750
AA Change: K33E

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,185,726 (GRCm39) D1200G probably damaging Het
Adnp2 A G 18: 80,172,537 (GRCm39) L624P probably damaging Het
Akap9 A G 5: 4,114,949 (GRCm39) probably null Het
Ap2a2 A G 7: 141,189,760 (GRCm39) Y249C probably damaging Het
Asxl2 A T 12: 3,534,531 (GRCm39) N243Y probably damaging Het
Btnl4 A G 17: 34,693,257 (GRCm39) S53P probably damaging Het
Caly T C 7: 139,651,513 (GRCm39) D116G possibly damaging Het
Ccdc121rt2 G A 5: 112,598,791 (GRCm39) R446H probably benign Het
Ccdc168 T A 1: 44,098,869 (GRCm39) H743L probably benign Het
Ccdc81 G A 7: 89,539,609 (GRCm39) A209V probably benign Het
Cdc14a A G 3: 116,101,887 (GRCm39) S347P probably benign Het
Cdh9 G T 15: 16,828,489 (GRCm39) A194S probably damaging Het
Clca3a2 A G 3: 144,519,756 (GRCm39) V206A probably benign Het
Clca4a A T 3: 144,658,500 (GRCm39) V905E possibly damaging Het
Cluap1 A G 16: 3,746,485 (GRCm39) E282G probably damaging Het
Cmtm2b T A 8: 105,056,419 (GRCm39) C109* probably null Het
Crtac1 T C 19: 42,322,399 (GRCm39) N114D probably benign Het
Dennd1b T C 1: 139,013,634 (GRCm39) Y168H Het
Dock6 T C 9: 21,757,858 (GRCm39) D82G probably damaging Het
Eps8 C T 6: 137,505,569 (GRCm39) R53Q possibly damaging Het
Erfl G A 7: 24,627,975 (GRCm39) P185S possibly damaging Het
Fh1 T C 1: 175,437,337 (GRCm39) Y254C probably damaging Het
H2-Q1 T A 17: 35,540,356 (GRCm39) L147Q probably damaging Het
H3c8 T A 13: 23,719,887 (GRCm39) M91K probably benign Het
Hnrnpu A T 1: 178,159,871 (GRCm39) D403E unknown Het
Klhl20 A G 1: 160,934,434 (GRCm39) V195A possibly damaging Het
Lair1 G T 7: 4,031,969 (GRCm39) T46N probably damaging Het
Lama4 A G 10: 38,921,805 (GRCm39) E442G possibly damaging Het
Lifr A T 15: 7,202,963 (GRCm39) I400F possibly damaging Het
Man2a1 T C 17: 64,908,771 (GRCm39) I14T probably benign Het
Or13p10 T A 4: 118,523,489 (GRCm39) C258* probably null Het
Or1ad8 T G 11: 50,898,071 (GRCm39) S91A possibly damaging Het
Or4z4 A C 19: 12,076,190 (GRCm39) V271G possibly damaging Het
Or51h7 A G 7: 102,591,760 (GRCm39) L8P probably benign Het
Or5an10 T A 19: 12,275,639 (GRCm39) I286F probably damaging Het
Or8s10 T C 15: 98,335,419 (GRCm39) I23T probably benign Het
Papss2 G T 19: 32,629,403 (GRCm39) V331F possibly damaging Het
Pcdha11 T C 18: 37,145,909 (GRCm39) S667P probably damaging Het
Pcolce A T 5: 137,607,390 (GRCm39) S75T probably benign Het
Phf20l1 A C 15: 66,502,768 (GRCm39) D716A possibly damaging Het
Pkd1 A G 17: 24,791,595 (GRCm39) E1094G possibly damaging Het
Ppm1h A G 10: 122,618,152 (GRCm39) K104E probably benign Het
Ppp6r3 T C 19: 3,509,750 (GRCm39) Y195C probably benign Het
Pramel6 T A 2: 87,340,031 (GRCm39) L265Q probably benign Het
Prc1 A T 7: 79,961,969 (GRCm39) N489I possibly damaging Het
Prss59 A C 6: 40,905,444 (GRCm39) probably null Het
Psg22 A C 7: 18,460,861 (GRCm39) N497H probably damaging Het
Pum3 T A 19: 27,389,620 (GRCm39) I411F possibly damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rev3l A T 10: 39,739,734 (GRCm39) I2861L possibly damaging Het
Rsf1 A C 7: 97,310,540 (GRCm39) K423N Het
Samd4b A G 7: 28,103,458 (GRCm39) I553T probably benign Het
Septin3 A G 15: 82,170,654 (GRCm39) E216G probably benign Het
Sppl2c T C 11: 104,078,640 (GRCm39) V480A possibly damaging Het
Sppl2c A G 11: 104,078,189 (GRCm39) T330A probably benign Het
Srebf2 A G 15: 82,088,253 (GRCm39) D1073G probably damaging Het
Sv2c C T 13: 96,224,797 (GRCm39) V171M probably damaging Het
Tbc1d4 T A 14: 101,845,715 (GRCm39) E61V probably damaging Het
Tnc T A 4: 63,926,983 (GRCm39) T848S probably benign Het
Trmt5 A G 12: 73,329,439 (GRCm39) Y240H probably damaging Het
Trpv1 T C 11: 73,132,583 (GRCm39) V399A possibly damaging Het
Tstd2 T C 4: 46,133,646 (GRCm39) T59A unknown Het
Ubash3a T A 17: 31,456,869 (GRCm39) L510M probably benign Het
Ubr3 T A 2: 69,783,200 (GRCm39) I713N probably damaging Het
Upf3a A G 8: 13,842,166 (GRCm39) E194G probably damaging Het
Usp22 A T 11: 61,065,588 (GRCm39) Y42N probably benign Het
Vav3 T A 3: 109,470,478 (GRCm39) C555S probably damaging Het
Vmn1r210 T A 13: 23,011,684 (GRCm39) M201L probably benign Het
Wdr64 C A 1: 175,554,051 (GRCm39) Q194K probably benign 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
R5830:Il34 UTSW 8 111,475,323 (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
R8023:Il34 UTSW 8 111,469,284 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATGGGGTTCGCTCTCAGTTA -3'
(R):5'- CCAGGTGACAAGTCCTCCTTA -3'

Sequencing Primer
(F):5'- CGCTCTCAGTTAGTGGGTTG -3'
(R):5'- TTAGGGCTCTGCATGCAC -3'
Posted On 2020-09-15