Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01420:Il34'

80397

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: 0.097) question?

Stock #

IGL01420

Quality Score

Status

Chromosome

Chromosomal Location

111468461-111532556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111469345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 157 (K157E)

Ref Sequence

ENSEMBL: ENSMUSP00000076120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052457] [ENSMUST00000076846] [ENSMUST00000144041] [ENSMUST00000150680]

AlphaFold

Q8R1R4

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 damaging
Transcript: ENSMUST00000076846
AA Change: K157E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076120
Gene: ENSMUSG00000031750
AA Change: K157E

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: E196G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114398
Gene: ENSMUSG00000031750
AA Change: E196G

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,920,637 (GRCm39)		probably benign	Het
Actr6	A	T	10: 89,561,027 (GRCm39)		probably benign	Het
Adamts3	A	T	5: 89,850,916 (GRCm39)	M541K	possibly damaging	Het
Adgre4	T	C	17: 56,106,785 (GRCm39)		probably benign	Het
Anxa6	T	C	11: 54,883,189 (GRCm39)	Y481C	probably damaging	Het
Apbb1ip	A	T	2: 22,748,292 (GRCm39)	I371F	possibly damaging	Het
Arhgef10l	T	C	4: 140,297,649 (GRCm39)	D261G	probably damaging	Het
Bche	T	C	3: 73,609,342 (GRCm39)	H28R	probably benign	Het
C2cd3	T	C	7: 100,104,065 (GRCm39)	V2026A	probably benign	Het
Cacna1d	C	T	14: 29,773,595 (GRCm39)	V1697I	probably benign	Het
Celsr2	T	C	3: 108,301,079 (GRCm39)	H2738R	probably benign	Het
Celsr3	A	G	9: 108,718,389 (GRCm39)		probably null	Het
Cep152	A	T	2: 125,405,572 (GRCm39)	D1653E	possibly damaging	Het
Cfap57	T	A	4: 118,470,137 (GRCm39)	I248F	probably benign	Het
Clcnka	C	A	4: 141,116,643 (GRCm39)	R536L	probably benign	Het
Dao	T	A	5: 114,161,881 (GRCm39)		probably benign	Het
Dnajc10	T	C	2: 80,175,367 (GRCm39)	S585P	possibly damaging	Het
Dysf	C	T	6: 84,126,741 (GRCm39)	Q1333*	probably null	Het
Eps8l2	T	A	7: 140,937,576 (GRCm39)	S397T	probably benign	Het
Fap	A	G	2: 62,334,846 (GRCm39)		probably benign	Het
Fbf1	T	C	11: 116,036,822 (GRCm39)	T971A	probably benign	Het
Fbxl17	C	T	17: 63,692,047 (GRCm39)	V22M	probably damaging	Het
Fcgbpl1	T	A	7: 27,839,558 (GRCm39)	M457K	probably benign	Het
Fundc2	T	C	X: 74,434,471 (GRCm39)		probably benign	Het
Heyl	C	A	4: 123,133,967 (GRCm39)	Q42K	probably damaging	Het
Hyal4	A	G	6: 24,755,871 (GRCm39)	K30E	probably benign	Het
Igsf10	T	C	3: 59,227,071 (GRCm39)	I2201V	probably benign	Het
Kcnj13	T	C	1: 87,316,766 (GRCm39)	T116A	probably damaging	Het
Lpl	T	C	8: 69,340,085 (GRCm39)		probably benign	Het
Mcm6	A	G	1: 128,273,612 (GRCm39)	L406P	probably damaging	Het
Mst1	G	A	9: 107,960,027 (GRCm39)	R328H	probably damaging	Het
Nadk2	T	C	15: 9,103,072 (GRCm39)	S308P	probably damaging	Het
Nae1	G	T	8: 105,249,797 (GRCm39)	Q225K	probably benign	Het
Ncoa6	G	A	2: 155,249,507 (GRCm39)	P1266S	probably damaging	Het
Neb	A	G	2: 52,047,389 (GRCm39)	Y6485H	probably damaging	Het
Nin	G	A	12: 70,092,188 (GRCm39)	A707V	probably benign	Het
Nmur1	T	C	1: 86,315,113 (GRCm39)	T218A	probably benign	Het
Npr3	T	C	15: 11,858,718 (GRCm39)	N135D	probably damaging	Het
Nup107	A	T	10: 117,620,926 (GRCm39)	L142Q	probably damaging	Het
Pdgfc	T	A	3: 81,048,750 (GRCm39)	S53T	probably benign	Het
Plxdc2	T	A	2: 16,654,950 (GRCm39)	V232D	probably damaging	Het
Pou2f2	T	C	7: 24,792,377 (GRCm39)	N493D	possibly damaging	Het
Rtel1	T	C	2: 180,996,194 (GRCm39)	I750T	probably benign	Het
Sbk1	A	G	7: 125,891,184 (GRCm39)		probably null	Het
Sec24d	A	G	3: 123,143,658 (GRCm39)	N603S	probably benign	Het
Slc38a10	T	A	11: 119,997,286 (GRCm39)	E736V	probably damaging	Het
Smc6	A	G	12: 11,341,659 (GRCm39)	Y559C	probably benign	Het
Sprr4	A	T	3: 92,407,691 (GRCm39)	V37E	unknown	Het
Sptbn2	A	G	19: 4,784,153 (GRCm39)	T632A	probably benign	Het
Trim31	A	G	17: 37,209,303 (GRCm39)	M20V	probably benign	Het
Trim65	C	A	11: 116,017,335 (GRCm39)	V376L	probably damaging	Het
Ttn	T	C	2: 76,542,420 (GRCm39)	D25195G	probably damaging	Het
Tysnd1	A	G	10: 61,537,830 (GRCm39)	T503A	possibly damaging	Het
Vtn	A	T	11: 78,390,200 (GRCm39)	I9L	probably benign	Het
Zfp398	A	G	6: 47,842,868 (GRCm39)	M175V	probably benign	Het

Other mutations in Il34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Il34	APN	8	111,469,375 (GRCm39)	missense	possibly damaging	0.83
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

2013-11-05