Mutagenetix > Incidental Mutation

Incidental Mutation 'R6552:Il34'

521706

Institutional Source

Beutler Lab

Gene Symbol

Il34

Ensembl Gene

ENSMUSG00000031750

Gene Name

interleukin 34

Synonyms

2010004A03Rik

MMRRC Submission

044677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R6552 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111468461-111532556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111469059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 187 (K187I)

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 benign
Transcript: ENSMUST00000076846
AA Change: K187I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000076120
Gene: ENSMUSG00000031750
AA Change: K187I

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

probably benign
Transcript: ENSMUST00000149273

SMART Domains

Protein: ENSMUSP00000119495
Gene: ENSMUSG00000033763

Domain	Start	End	E-Value	Type
Pfam:IMD	1	126	2.5e-59	PFAM
low complexity region	142	183	N/A	INTRINSIC
low complexity region	206	217	N/A	INTRINSIC
low complexity region	239	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150680

SMART Domains

Protein: ENSMUSP00000114398
Gene: ENSMUSG00000031750

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang5	A	T	14: 44,200,254 (GRCm39)	H106L	probably benign	Het
Arsk	A	G	13: 76,220,315 (GRCm39)	Y260H	probably damaging	Het
Atxn2l	C	T	7: 126,092,993 (GRCm39)	V833M	possibly damaging	Het
Bpifa6	G	A	2: 153,829,078 (GRCm39)	D202N	probably damaging	Het
Ccdc103	A	G	11: 102,774,970 (GRCm39)	S190G	probably benign	Het
Col6a6	C	T	9: 105,576,112 (GRCm39)	V2083I	probably damaging	Het
Creb5	A	G	6: 53,662,369 (GRCm39)	D222G	probably damaging	Het
Cyp7a1	C	T	4: 6,272,361 (GRCm39)	W284*	probably null	Het
Dnmt3a	T	C	12: 3,957,623 (GRCm39)	V868A	probably damaging	Het
Efr3a	A	G	15: 65,729,339 (GRCm39)	D680G	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l4a	A	G	18: 34,012,032 (GRCm39)	Y163H	probably damaging	Het
Gabra1	A	T	11: 42,037,926 (GRCm39)	S231T	probably damaging	Het
Golga4	T	A	9: 118,343,299 (GRCm39)	F42I	probably damaging	Het
Greb1l	G	A	18: 10,541,814 (GRCm39)	S1187N	probably benign	Het
Haspin	A	G	11: 73,028,390 (GRCm39)	V233A	probably benign	Het
Kcnn2	A	G	18: 45,693,165 (GRCm39)	H247R	probably benign	Het
Klf5	T	C	14: 99,539,078 (GRCm39)	S84P	probably benign	Het
Lama5	G	T	2: 179,822,947 (GRCm39)	P2773Q	probably damaging	Het
Lcat	T	C	8: 106,666,311 (GRCm39)	M404V	possibly damaging	Het
Lrp6	A	T	6: 134,431,692 (GRCm39)	S1473T	probably benign	Het
Lsm3	GATATATA	GATATATATA	6: 91,496,617 (GRCm39)		probably null	Het
Mn1	T	C	5: 111,568,753 (GRCm39)	S908P	possibly damaging	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or2ag13	TGAAGCC	T	7: 106,313,850 (GRCm39)		probably benign	Het
Pcdhb2	A	T	18: 37,429,046 (GRCm39)	M340L	probably benign	Het
Pex1	G	A	5: 3,673,953 (GRCm39)	E748K	probably damaging	Het
Qrich1	T	C	9: 108,411,504 (GRCm39)	V343A	possibly damaging	Het
Rho	A	G	6: 115,908,709 (GRCm39)		probably null	Het
Sdhaf4	C	A	1: 24,044,687 (GRCm39)		probably benign	Het
Sec24d	A	G	3: 123,084,201 (GRCm39)	I127V	probably benign	Het
Siae	T	C	9: 37,557,696 (GRCm39)	V501A	possibly damaging	Het
Skint3	T	C	4: 112,147,482 (GRCm39)	Y402H	possibly damaging	Het
Skint6	A	C	4: 112,924,687 (GRCm39)	V515G	possibly damaging	Het
Slc23a1	C	A	18: 35,755,391 (GRCm39)	G475C	probably damaging	Het
Smad9	A	G	3: 54,690,167 (GRCm39)	Y129C	probably damaging	Het
Snw1	A	G	12: 87,506,189 (GRCm39)		probably null	Het
Spice1	A	G	16: 44,199,396 (GRCm39)	D616G	possibly damaging	Het
Stam2	T	C	2: 52,598,239 (GRCm39)		probably null	Het
Sumo3	G	T	10: 77,442,091 (GRCm39)		probably benign	Het
Syne2	T	G	12: 75,937,015 (GRCm39)	N204K	possibly damaging	Het
Tmem200a	T	C	10: 25,869,381 (GRCm39)	N296S	probably damaging	Het
Ttbk1	G	T	17: 46,789,888 (GRCm39)	T125N	probably benign	Het
Ubr2	G	T	17: 47,277,194 (GRCm39)		probably null	Het
Vmn1r80	C	T	7: 11,927,684 (GRCm39)	L265F	probably damaging	Het
Vwa8	A	T	14: 79,435,662 (GRCm39)	T1791S	possibly damaging	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
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
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'- CTGAAATGCATCCAGTGGCC -3'
(R):5'- CTTGCTGTAAGAGGCTTCCG -3'

Sequencing Primer
(F):5'- CATCCAGTGGCCCGACC -3'
(R):5'- CAACTGTGGGCCAAGGGATC -3'

Posted On

2018-06-06