Mutagenetix > Incidental Mutation

Incidental Mutation 'R7061:Il24'

548234

Institutional Source

Beutler Lab

Gene Symbol

Il24

Ensembl Gene

ENSMUSG00000026420

Gene Name

interleukin 24

Synonyms

FISP, Mda-7

MMRRC Submission

045384-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130809801-130815153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130811108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 142 (H142L)

Ref Sequence

ENSEMBL: ENSMUSP00000140149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038829] [ENSMUST00000121040] [ENSMUST00000187650] [ENSMUST00000188148] [ENSMUST00000191279]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038829

SMART Domains

Protein: ENSMUSP00000048303
Gene: ENSMUSG00000042474

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:V-set	21	122	1.3e-10	PFAM
low complexity region	212	223	N/A	INTRINSIC
transmembrane domain	264	283	N/A	INTRINSIC
low complexity region	285	311	N/A	INTRINSIC
low complexity region	344	363	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121040
AA Change: H181L

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113064
Gene: ENSMUSG00000026420
AA Change: H181L

Domain	Start	End	E-Value	Type
low complexity region	44	56	N/A	INTRINSIC
IL10	76	219	1.14e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187650
AA Change: H142L

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140149
Gene: ENSMUSG00000026420
AA Change: H142L

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IL10	37	180	5.4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188148

SMART Domains

Protein: ENSMUSP00000139907
Gene: ENSMUSG00000026420

Domain	Start	End	E-Value	Type
low complexity region	37	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191279

SMART Domains

Protein: ENSMUSP00000140821
Gene: ENSMUSG00000026420

Domain	Start	End	E-Value	Type
low complexity region	44	56	N/A	INTRINSIC
Blast:IL10	76	118	2e-21	BLAST
SCOP:d2ilk__	80	119	2e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IL10 family of cytokines. It was identified as a gene induced during terminal differentiation in melanoma cells. The protein encoded by this gene can induce apoptosis selectively in various cancer cells. Overexpression of this gene leads to elevated expression of several GADD family genes, which correlates with the induction of apoptosis. The phosphorylation of mitogen-activated protein kinase 14 (MAPK7/P38), and heat shock 27kDa protein 1 (HSPB2/HSP27) are found to be induced by this gene in melanoma cells, but not in normal immortal melanocytes. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display normal induction of epidermal hyperplasia in response to intradermal IL-23 treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aard	G	A	15: 51,903,617 (GRCm39)	M13I	probably benign	Het
Abcb5	A	C	12: 118,841,509 (GRCm39)	Y979D	probably damaging	Het
Adgrb1	G	C	15: 74,441,730 (GRCm39)	V4L	probably benign	Het
Ap3b2	C	T	7: 81,110,757 (GRCm39)	R1006Q	unknown	Het
Bpifa6	A	T	2: 153,834,236 (GRCm39)	T343S	probably benign	Het
Celsr3	T	A	9: 108,724,793 (GRCm39)	C2957*	probably null	Het
Chd6	G	A	2: 160,867,885 (GRCm39)	Q428*	probably null	Het
Col5a1	C	A	2: 27,915,690 (GRCm39)	C191*	probably null	Het
Cpox	A	G	16: 58,491,223 (GRCm39)	I145V	possibly damaging	Het
Csnk2a1	C	T	2: 152,116,091 (GRCm39)	R268C	probably benign	Het
Dclk2	A	G	3: 86,739,038 (GRCm39)		probably null	Het
Dennd5a	T	C	7: 109,504,386 (GRCm39)	E909G	probably benign	Het
Depdc1a	T	A	3: 159,228,489 (GRCm39)	S414T	possibly damaging	Het
Dock5	A	G	14: 68,007,703 (GRCm39)	F1502S	probably damaging	Het
Dop1b	G	T	16: 93,558,951 (GRCm39)	A448S	probably benign	Het
Dsg1c	C	A	18: 20,410,066 (GRCm39)	N511K	probably benign	Het
Epc2	G	T	2: 49,425,334 (GRCm39)	R108L	probably damaging	Het
Erp44	T	A	4: 48,219,375 (GRCm39)	I147F	probably benign	Het
Evc	T	C	5: 37,476,446 (GRCm39)	T368A	possibly damaging	Het
Fbxo41	G	T	6: 85,452,448 (GRCm39)	R738S	probably benign	Het
Fli1	T	C	9: 32,335,518 (GRCm39)	T305A	probably damaging	Het
Grk5	A	G	19: 61,034,530 (GRCm39)	T93A	probably benign	Het
Grm2	A	T	9: 106,528,424 (GRCm39)	N153K	probably damaging	Het
Helz	A	G	11: 107,540,003 (GRCm39)	T1007A	possibly damaging	Het
Helz2	A	G	2: 180,882,307 (GRCm39)	L162P	probably damaging	Het
Hmgcr	T	A	13: 96,802,656 (GRCm39)	Q81L	possibly damaging	Het
Hnrnpu	T	C	1: 178,163,691 (GRCm39)	K218E	unknown	Het
Hydin	A	T	8: 111,329,920 (GRCm39)	I4885F	possibly damaging	Het
Ibsp	A	G	5: 104,457,768 (GRCm39)		probably null	Het
Igfals	T	C	17: 25,099,281 (GRCm39)	L124P	probably damaging	Het
Iqca1l	A	G	5: 24,750,063 (GRCm39)	M660T	probably benign	Het
Kcnh2	A	T	5: 24,536,920 (GRCm39)	H221Q	probably benign	Het
Man1a	A	G	10: 53,796,331 (GRCm39)	S454P	probably damaging	Het
Meiosin	A	T	7: 18,834,053 (GRCm39)		probably benign	Het
Mfsd4b1	C	T	10: 39,879,382 (GRCm39)	V172M	possibly damaging	Het
Mical2	T	A	7: 111,946,008 (GRCm39)	I763K	probably benign	Het
Mybpc3	A	G	2: 90,955,749 (GRCm39)	I594M	possibly damaging	Het
Neo1	T	A	9: 58,897,724 (GRCm39)	R77S	possibly damaging	Het
Nlrp6	A	G	7: 140,502,780 (GRCm39)	I265M	probably benign	Het
Or52n5	T	C	7: 104,587,883 (GRCm39)	L50P	probably damaging	Het
Or5bw2	A	G	7: 6,573,782 (GRCm39)	Y264C	probably damaging	Het
Or8b9	T	A	9: 37,766,942 (GRCm39)	V276D	possibly damaging	Het
Pcdhgb5	C	A	18: 37,864,976 (GRCm39)	P257Q	probably benign	Het
Phactr1	A	G	13: 43,286,457 (GRCm39)	D586G	probably damaging	Het
Pkn3	T	A	2: 29,973,548 (GRCm39)		probably null	Het
Prob1	A	T	18: 35,787,553 (GRCm39)	S234T	probably benign	Het
Rab14	A	T	2: 35,073,429 (GRCm39)	L131*	probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rhebl1	A	G	15: 98,777,164 (GRCm39)	L103P	probably damaging	Het
Rnf10	G	T	5: 115,395,149 (GRCm39)	F146L	probably damaging	Het
Rrbp1	T	C	2: 143,831,087 (GRCm39)	K360R	possibly damaging	Het
Slc6a9	C	T	4: 117,725,261 (GRCm39)	T575I	probably benign	Het
Smo	A	G	6: 29,760,229 (GRCm39)	H776R	probably damaging	Het
Speer1f	T	C	5: 11,469,071 (GRCm39)	V74A	possibly damaging	Het
Tns2	A	G	15: 102,012,914 (GRCm39)	M1V	probably null	Het
Ttn	C	A	2: 76,725,036 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,306,240 (GRCm39)	M130L	probably benign	Het
Urb2	C	T	8: 124,755,036 (GRCm39)	H248Y	probably benign	Het
Vit	A	T	17: 78,932,585 (GRCm39)	N564I	probably damaging	Het
Vmn1r60	A	T	7: 5,547,310 (GRCm39)	Y263*	probably null	Het
Vmn2r16	A	T	5: 109,511,620 (GRCm39)	Y609F	probably damaging	Het
Xpo7	T	C	14: 70,908,512 (GRCm39)	I876V	probably benign	Het
Zfp442	A	G	2: 150,249,937 (GRCm39)	I655T	probably benign	Het
Zfp574	T	A	7: 24,779,622 (GRCm39)	C215S	possibly damaging	Het
Zfp608	T	C	18: 55,121,069 (GRCm39)	T173A	probably benign	Het
Zfp69	A	T	4: 120,788,598 (GRCm39)	V239D	possibly damaging	Het

Other mutations in Il24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Il24	APN	1	130,811,614 (GRCm39)	missense	probably damaging	1.00
IGL02540:Il24	APN	1	130,815,040 (GRCm39)	unclassified	probably benign
IGL02959:Il24	APN	1	130,813,470 (GRCm39)	nonsense	probably null
IGL03191:Il24	APN	1	130,812,584 (GRCm39)	missense	probably benign	0.06
R0360:Il24	UTSW	1	130,811,674 (GRCm39)	missense	probably damaging	1.00
R1738:Il24	UTSW	1	130,815,099 (GRCm39)	splice site	probably null
R1755:Il24	UTSW	1	130,811,680 (GRCm39)	missense	possibly damaging	0.58
R1984:Il24	UTSW	1	130,810,268 (GRCm39)	missense	probably benign	0.01
R1985:Il24	UTSW	1	130,810,268 (GRCm39)	missense	probably benign	0.01
R1986:Il24	UTSW	1	130,810,268 (GRCm39)	missense	probably benign	0.01
R2090:Il24	UTSW	1	130,812,574 (GRCm39)	missense	possibly damaging	0.90
R4970:Il24	UTSW	1	130,811,179 (GRCm39)	splice site	probably null
R5112:Il24	UTSW	1	130,811,179 (GRCm39)	splice site	probably null
R5590:Il24	UTSW	1	130,810,253 (GRCm39)	missense	possibly damaging	0.72
R6128:Il24	UTSW	1	130,813,435 (GRCm39)	missense	probably damaging	0.97
R9114:Il24	UTSW	1	130,813,483 (GRCm39)	missense	possibly damaging	0.86
R9465:Il24	UTSW	1	130,813,462 (GRCm39)	missense	probably benign	0.18
X0021:Il24	UTSW	1	130,813,322 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TCTTTCTCAATTCTGACATCGGGG -3'
(R):5'- AATCTGGCTCTGGTTTGCTC -3'

Sequencing Primer
(F):5'- GGGACCTGTAAAACTTTCTCATAGAG -3'
(R):5'- TGCTCGAGAGTGTGGGAC -3'

Posted On

2019-05-13