Incidental Mutation 'IGL01367:Il34'
ID75978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il34
Ensembl Gene ENSMUSG00000031750
Gene Nameinterleukin 34
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL01367
Quality Score
Status
Chromosome8
Chromosomal Location110741829-110805924 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 110742743 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 186 (I186N)
Ref Sequence ENSEMBL: ENSMUSP00000114398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052457] [ENSMUST00000076846] [ENSMUST00000144041] [ENSMUST00000150680]
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 benign
Transcript: ENSMUST00000052457
SMART Domains Protein: ENSMUSP00000050211
Gene: ENSMUSG00000033763

DomainStartEndE-ValueType
Pfam:IMD 15 236 8.1e-108 PFAM
low complexity region 252 274 N/A INTRINSIC
low complexity region 284 295 N/A INTRINSIC
low complexity region 312 330 N/A INTRINSIC
low complexity region 368 386 N/A INTRINSIC
low complexity region 429 442 N/A INTRINSIC
low complexity region 546 562 N/A INTRINSIC
low complexity region 668 690 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076846
AA Change: S147T

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076120
Gene: ENSMUSG00000031750
AA Change: S147T

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 noncoding transcript
Transcript: ENSMUST00000133848
Predicted Effect probably benign
Transcript: ENSMUST00000141302
SMART Domains Protein: ENSMUSP00000116518
Gene: ENSMUSG00000033763

DomainStartEndE-ValueType
Pfam:IMD 1 122 1e-56 PFAM
low complexity region 138 179 N/A INTRINSIC
low complexity region 202 213 N/A INTRINSIC
low complexity region 230 248 N/A INTRINSIC
low complexity region 286 304 N/A INTRINSIC
low complexity region 347 360 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144041
SMART Domains Protein: ENSMUSP00000115220
Gene: ENSMUSG00000033763

DomainStartEndE-ValueType
Pfam:IMD 1 174 3.6e-72 PFAM
low complexity region 190 212 N/A INTRINSIC
low complexity region 222 233 N/A INTRINSIC
low complexity region 250 268 N/A INTRINSIC
low complexity region 306 324 N/A INTRINSIC
low complexity region 367 380 N/A INTRINSIC
low complexity region 484 500 N/A INTRINSIC
low complexity region 606 628 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000150680
AA Change: I186N

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114398
Gene: ENSMUSG00000031750
AA Change: I186N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154803
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik A G 11: 30,454,843 V20A possibly damaging Het
Alk T C 17: 71,900,786 I985V probably damaging Het
Anapc2 A C 2: 25,274,782 R59S possibly damaging Het
Ankhd1 T A 18: 36,578,643 D165E probably benign Het
Asb8 A T 15: 98,136,173 V167D probably damaging Het
Atp5j A G 16: 84,828,472 M81T probably benign Het
Bcl7b A G 5: 135,180,096 T138A probably damaging Het
Cdh23 A G 10: 60,310,787 L2869P probably damaging Het
Chl1 T C 6: 103,729,225 S1174P probably benign Het
Clec2g T C 6: 128,948,736 I36T unknown Het
Denr A G 5: 123,908,119 D4G probably benign Het
Dnajc10 T C 2: 80,324,752 probably benign Het
Egf C T 3: 129,702,455 probably null Het
Galnt10 A C 11: 57,725,583 Y108S probably damaging Het
Gls C T 1: 52,168,399 G602D probably damaging Het
Grb10 G T 11: 11,945,599 Q242K probably damaging Het
Hspg2 A T 4: 137,538,489 Y1837F probably damaging Het
Ikzf1 G T 11: 11,748,358 A70S probably benign Het
Il17ra T C 6: 120,481,465 Y526H probably damaging Het
Iqca G A 1: 90,070,628 probably benign Het
Kntc1 A G 5: 123,758,483 Y136C probably damaging Het
Man2b2 A T 5: 36,814,337 Y257* probably null Het
Map3k19 A G 1: 127,824,351 F421S possibly damaging Het
Melk A G 4: 44,332,907 T288A possibly damaging Het
Mpp2 T C 11: 102,063,309 E187G probably damaging Het
Mtf2 A G 5: 108,104,457 T394A probably benign Het
Neil2 A G 14: 63,191,728 S39P probably damaging Het
Olfr1507 T A 14: 52,490,167 I266F probably benign Het
Pcdh7 A G 5: 58,129,224 E1214G possibly damaging Het
Pcdhb17 G T 18: 37,487,495 Q779H probably benign Het
Pik3c2b A G 1: 133,105,988 I1577V probably benign Het
Pkp3 C T 7: 141,084,076 P389S probably damaging Het
Ppp4r2 T A 6: 100,864,745 Y92* probably null Het
Rnf13 T C 3: 57,807,087 I189T probably benign Het
Serpinf2 T C 11: 75,438,045 D53G probably benign Het
Slc47a2 T A 11: 61,329,781 T184S probably benign Het
Sned1 T C 1: 93,283,214 I1008T probably benign Het
Sorcs3 A T 19: 48,796,375 E1079V probably damaging Het
Trappc8 G A 18: 20,866,119 S318L probably benign Het
Trappc9 A G 15: 72,590,153 S909P probably benign Het
Ttn G A 2: 76,730,139 T29306I probably damaging Het
Twnk G A 19: 45,011,651 R602Q possibly damaging Het
Vmn2r15 A T 5: 109,293,209 I261K probably damaging Het
Vmn2r77 G A 7: 86,811,916 A817T probably damaging Het
Other mutations in Il34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Il34 APN 8 110742713 missense probably damaging 1.00
R0525:Il34 UTSW 8 110748283 missense probably damaging 1.00
R5830:Il34 UTSW 8 110748691 missense probably damaging 1.00
R5978:Il34 UTSW 8 110742685 missense probably damaging 1.00
R6189:Il34 UTSW 8 110742718 missense probably benign 0.00
R6552:Il34 UTSW 8 110742427 missense probably benign 0.02
R8023:Il34 UTSW 8 110742652 missense probably damaging 0.99
Posted On2013-10-07