Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01367:Il34'

75978

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il34

Ensembl Gene

ENSMUSG00000031750

Gene Name

interleukin 34

Synonyms

2010004A03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL01367

Quality Score

Status

Chromosome

Chromosomal Location

111468461-111532556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111469375 bp (GRCm39)

Zygosity

Heterozygous

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]

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 benign
Transcript: ENSMUST00000052457

SMART Domains

Protein: ENSMUSP00000050211
Gene: ENSMUSG00000033763

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	A	G	11: 30,404,843 (GRCm39)	V20A	possibly damaging	Het
Alk	T	C	17: 72,207,781 (GRCm39)	I985V	probably damaging	Het
Anapc2	A	C	2: 25,164,794 (GRCm39)	R59S	possibly damaging	Het
Ankhd1	T	A	18: 36,711,696 (GRCm39)	D165E	probably benign	Het
Asb8	A	T	15: 98,034,054 (GRCm39)	V167D	probably damaging	Het
Atp5pf	A	G	16: 84,625,360 (GRCm39)	M81T	probably benign	Het
Bcl7b	A	G	5: 135,208,950 (GRCm39)	T138A	probably damaging	Het
Cdh23	A	G	10: 60,146,566 (GRCm39)	L2869P	probably damaging	Het
Chl1	T	C	6: 103,706,186 (GRCm39)	S1174P	probably benign	Het
Clec2g	T	C	6: 128,925,699 (GRCm39)	I36T	unknown	Het
Denr	A	G	5: 124,046,182 (GRCm39)	D4G	probably benign	Het
Dnajc10	T	C	2: 80,155,096 (GRCm39)		probably benign	Het
Egf	C	T	3: 129,496,104 (GRCm39)		probably null	Het
Galnt10	A	C	11: 57,616,409 (GRCm39)	Y108S	probably damaging	Het
Gls	C	T	1: 52,207,558 (GRCm39)	G602D	probably damaging	Het
Grb10	G	T	11: 11,895,599 (GRCm39)	Q242K	probably damaging	Het
Hspg2	A	T	4: 137,265,800 (GRCm39)	Y1837F	probably damaging	Het
Ikzf1	G	T	11: 11,698,358 (GRCm39)	A70S	probably benign	Het
Il17ra	T	C	6: 120,458,426 (GRCm39)	Y526H	probably damaging	Het
Iqca1	G	A	1: 89,998,350 (GRCm39)		probably benign	Het
Kntc1	A	G	5: 123,896,546 (GRCm39)	Y136C	probably damaging	Het
Man2b2	A	T	5: 36,971,681 (GRCm39)	Y257*	probably null	Het
Map3k19	A	G	1: 127,752,088 (GRCm39)	F421S	possibly damaging	Het
Melk	A	G	4: 44,332,907 (GRCm39)	T288A	possibly damaging	Het
Mpp2	T	C	11: 101,954,135 (GRCm39)	E187G	probably damaging	Het
Mtf2	A	G	5: 108,252,323 (GRCm39)	T394A	probably benign	Het
Neil2	A	G	14: 63,429,177 (GRCm39)	S39P	probably damaging	Het
Or4e5	T	A	14: 52,727,624 (GRCm39)	I266F	probably benign	Het
Pcdh7	A	G	5: 58,286,566 (GRCm39)	E1214G	possibly damaging	Het
Pcdhb17	G	T	18: 37,620,548 (GRCm39)	Q779H	probably benign	Het
Pik3c2b	A	G	1: 133,033,726 (GRCm39)	I1577V	probably benign	Het
Pkp3	C	T	7: 140,663,989 (GRCm39)	P389S	probably damaging	Het
Ppp4r2	T	A	6: 100,841,706 (GRCm39)	Y92*	probably null	Het
Rnf13	T	C	3: 57,714,508 (GRCm39)	I189T	probably benign	Het
Serpinf2	T	C	11: 75,328,871 (GRCm39)	D53G	probably benign	Het
Slc47a2	T	A	11: 61,220,607 (GRCm39)	T184S	probably benign	Het
Sned1	T	C	1: 93,210,936 (GRCm39)	I1008T	probably benign	Het
Sorcs3	A	T	19: 48,784,814 (GRCm39)	E1079V	probably damaging	Het
Trappc8	G	A	18: 20,999,176 (GRCm39)	S318L	probably benign	Het
Trappc9	A	G	15: 72,462,002 (GRCm39)	S909P	probably benign	Het
Ttn	G	A	2: 76,560,483 (GRCm39)	T29306I	probably damaging	Het
Twnk	G	A	19: 45,000,090 (GRCm39)	R602Q	possibly damaging	Het
Vmn2r15	A	T	5: 109,441,075 (GRCm39)	I261K	probably damaging	Het
Vmn2r77	G	A	7: 86,461,124 (GRCm39)	A817T	probably damaging	Het

Other mutations in Il34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-10-07