Mutagenetix > Incidental Mutation

Incidental Mutation 'R2425:Il3'

250158

Institutional Source

Beutler Lab

Gene Symbol

Il3

Ensembl Gene

ENSMUSG00000018914

Gene Name

interleukin 3

Synonyms

BPA, Csfmu, HCGF, PSF, Il-3, MCGF

MMRRC Submission

040387-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2425 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54156129-54158103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54156375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 119 (V119D)

Ref Sequence

ENSEMBL: ENSMUSP00000019058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019058]

AlphaFold

P01586

PDB Structure

Solution structure of murine interleukin 3 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019058
AA Change: V119D

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000019058
Gene: ENSMUSG00000018914
AA Change: V119D

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:IL3	27	138	3.8e-41	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene show abnormal mast cell development. Contact hypersensitivity is reduced and resistance to parasitic invections is increased. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,959,033 (GRCm39)	F621S	probably damaging	Het
Abcc10	A	G	17: 46,621,083 (GRCm39)	Y976H	probably damaging	Het
Abhd6	T	A	14: 8,049,857 (GRCm38)	N215K	probably benign	Het
Adcy4	T	C	14: 56,015,474 (GRCm39)	T479A	probably damaging	Het
Amacr	A	G	15: 10,983,454 (GRCm39)	Q88R	possibly damaging	Het
Ankrd11	T	A	8: 123,619,902 (GRCm39)	I1317F	possibly damaging	Het
Ano3	C	A	2: 110,693,188 (GRCm39)	A137S	probably benign	Het
Astn1	T	G	1: 158,407,236 (GRCm39)	S562A	probably damaging	Het
Cd44	T	A	2: 102,691,931 (GRCm39)	Y119F	probably damaging	Het
CN725425	A	C	15: 91,130,058 (GRCm39)	D307A	probably damaging	Het
Col12a1	T	C	9: 79,585,648 (GRCm39)	Y1243C	probably damaging	Het
Cyp2c50	T	C	19: 40,078,292 (GRCm39)	I50T	probably benign	Het
Dhrs9	A	G	2: 69,223,308 (GRCm39)	K19E	probably benign	Het
Dnajb14	T	G	3: 137,598,666 (GRCm39)	F135V	probably null	Het
Draxin	T	A	4: 148,197,213 (GRCm39)	T195S	possibly damaging	Het
Elane	C	T	10: 79,723,610 (GRCm39)	R192C	probably benign	Het
Fam171a2	A	C	11: 102,329,187 (GRCm39)	I524S	possibly damaging	Het
Fbxo10	C	T	4: 45,051,642 (GRCm39)	E490K	possibly damaging	Het
Fkbp15	T	C	4: 62,230,602 (GRCm39)	T704A	probably benign	Het
Fndc1	T	A	17: 8,023,850 (GRCm39)	D35V	probably damaging	Het
Galntl5	A	G	5: 25,425,079 (GRCm39)	K366E	probably damaging	Het
Gas7	G	A	11: 67,534,121 (GRCm39)	A74T	probably benign	Het
Gjd4	G	T	18: 9,280,811 (GRCm39)	S89*	probably null	Het
Gldc	T	A	19: 30,109,190 (GRCm39)	N583Y	probably damaging	Het
Gpr161	T	A	1: 165,138,192 (GRCm39)	S259R	possibly damaging	Het
Igfn1	T	A	1: 135,890,840 (GRCm39)	T2387S	probably damaging	Het
Ints3	T	C	3: 90,301,417 (GRCm39)	T822A	possibly damaging	Het
Jakmip1	C	T	5: 37,299,149 (GRCm39)	Q790*	probably null	Het
Kcne1	A	G	16: 92,145,646 (GRCm39)	I66T	probably damaging	Het
Nipbl	A	G	15: 8,380,966 (GRCm39)	S609P	probably benign	Het
Or10d5	T	C	9: 39,861,137 (GRCm39)	E310G	probably null	Het
Or2t48	A	G	11: 58,420,137 (GRCm39)	I225T	probably damaging	Het
Or8k21	A	G	2: 86,144,739 (GRCm39)	V297A	probably damaging	Het
Pdxdc1	A	T	16: 13,697,372 (GRCm39)	S103T	possibly damaging	Het
Pla2g2a	C	A	4: 138,560,229 (GRCm39)	A24E	possibly damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pramel1	T	G	4: 143,125,036 (GRCm39)	L320R	probably damaging	Het
Rad23b	T	A	4: 55,385,438 (GRCm39)	I325N	probably damaging	Het
Rasgrp1	C	G	2: 117,119,931 (GRCm39)		probably null	Het
Rbm12b1	T	A	4: 12,146,443 (GRCm39)	I805N	probably damaging	Het
Shld2	A	G	14: 33,990,646 (GRCm39)	S87P	probably damaging	Het
Slc12a9	G	T	5: 137,313,859 (GRCm39)	A700E	probably damaging	Het
Tbc1d24	A	T	17: 24,404,982 (GRCm39)	V54E	probably damaging	Het
Tmc8	A	G	11: 117,683,395 (GRCm39)	D650G	probably damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Ush2a	T	A	1: 188,270,001 (GRCm39)	N1749K	possibly damaging	Het
Usp42	T	C	5: 143,701,594 (GRCm39)	T810A	probably benign	Het
Wdr70	C	A	15: 7,916,840 (GRCm39)	E526*	probably null	Het
Zfp935	G	T	13: 62,602,922 (GRCm39)	Q93K	probably benign	Het

Other mutations in Il3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0123:Il3	UTSW	11	54,156,506 (GRCm39)	critical splice donor site	probably null
R0134:Il3	UTSW	11	54,156,506 (GRCm39)	critical splice donor site	probably null
R0225:Il3	UTSW	11	54,156,506 (GRCm39)	critical splice donor site	probably null
R1242:Il3	UTSW	11	54,157,929 (GRCm39)	missense	probably benign	0.00
R4837:Il3	UTSW	11	54,158,083 (GRCm39)	start gained	probably benign
R5521:Il3	UTSW	11	54,157,958 (GRCm39)	missense	possibly damaging	0.91
R6958:Il3	UTSW	11	54,157,937 (GRCm39)	missense	probably benign	0.00
R7366:Il3	UTSW	11	54,156,709 (GRCm39)	missense	probably benign
R8088:Il3	UTSW	11	54,156,375 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ACTTTAGGTGCTCTGCCTGC -3'
(R):5'- GTAGGGCCTTCTCCACTTTAGG -3'

Sequencing Primer
(F):5'- TGCTGTTTTAACATTCCACGG -3'
(R):5'- CCACTTTAGGAGGGATCTGAC -3'

Posted On

2014-11-12