Mutagenetix > Incidental Mutation

Incidental Mutation 'R2090:Il24'

231684

Institutional Source

Beutler Lab

Gene Symbol

Il24

Ensembl Gene

ENSMUSG00000026420

Gene Name

interleukin 24

Synonyms

FISP, Mda-7

MMRRC Submission

040095-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130809801-130815153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 130812574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 99 (D99A)

Ref Sequence

ENSEMBL: ENSMUSP00000140821 (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: D99A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113064
Gene: ENSMUSG00000026420
AA Change: D99A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145446

Predicted Effect

probably benign
Transcript: ENSMUST00000187650
AA Change: D60A

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140149
Gene: ENSMUSG00000026420
AA Change: D60A

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

possibly damaging
Transcript: ENSMUST00000191279
AA Change: D99A

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140821
Gene: ENSMUSG00000026420
AA Change: D99A

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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
Adam32	A	G	8: 25,391,456 (GRCm39)		probably null	Het
Adcy7	A	T	8: 89,042,485 (GRCm39)	T451S	probably damaging	Het
Adgrg3	A	T	8: 95,766,558 (GRCm39)	T410S	possibly damaging	Het
Alg11	G	T	8: 22,555,646 (GRCm39)	L302F	possibly damaging	Het
Ankrd17	A	G	5: 90,445,905 (GRCm39)	V310A	possibly damaging	Het
Atg16l2	C	T	7: 100,942,575 (GRCm39)		probably null	Het
B3gnt2	A	G	11: 22,786,291 (GRCm39)	V299A	probably benign	Het
Birc6	A	G	17: 74,969,791 (GRCm39)	N4258S	probably benign	Het
C2cd4d	A	G	3: 94,271,321 (GRCm39)	K196E	probably benign	Het
Calhm6	A	G	10: 34,002,358 (GRCm39)	S242P	probably damaging	Het
Cdr2l	A	G	11: 115,281,827 (GRCm39)	K111E	probably damaging	Het
Crtam	T	C	9: 40,895,612 (GRCm39)	Q41R	possibly damaging	Het
Cspp1	A	G	1: 10,160,493 (GRCm39)	K560R	possibly damaging	Het
Dcaf15	A	T	8: 84,824,400 (GRCm39)	Y571*	probably null	Het
Defa39	A	T	8: 22,192,805 (GRCm39)	W64R	possibly damaging	Het
Dpy19l4	T	C	4: 11,304,344 (GRCm39)	Y99C	probably benign	Het
Edem3	C	T	1: 151,680,577 (GRCm39)		probably benign	Het
Enpp6	A	T	8: 47,518,405 (GRCm39)		probably null	Het
Foxf2	T	A	13: 31,810,824 (GRCm39)	D254E	probably benign	Het
Gjb5	T	C	4: 127,249,794 (GRCm39)	N117D	probably benign	Het
Glmn	G	A	5: 107,709,794 (GRCm39)	L337F	probably damaging	Het
Gsdmc2	T	A	15: 63,698,675 (GRCm39)	Y307F	probably benign	Het
Gsdmc3	T	A	15: 63,738,631 (GRCm39)	M144L	probably benign	Het
Ibtk	A	G	9: 85,603,046 (GRCm39)	I653T	probably benign	Het
Intu	A	G	3: 40,637,966 (GRCm39)	Q484R	probably benign	Het
Iqca1l	A	G	5: 24,755,674 (GRCm39)	S283P	probably benign	Het
Lsp1	T	C	7: 142,045,544 (GRCm39)		probably benign	Het
Mad1l1	A	G	5: 139,995,011 (GRCm39)	S672P	probably benign	Het
Man2a2	A	T	7: 80,013,858 (GRCm39)		probably benign	Het
Morc3	C	A	16: 93,663,341 (GRCm39)	H515N	probably benign	Het
Nav1	T	C	1: 135,534,903 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,230 (GRCm39)	L247P	probably damaging	Het
Nfkbiz	A	T	16: 55,636,818 (GRCm39)	F494L	probably benign	Het
Nr1d1	G	A	11: 98,661,436 (GRCm39)	P277S	probably damaging	Het
Nrg2	T	C	18: 36,151,496 (GRCm39)	D682G	probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Oasl1	G	A	5: 115,073,993 (GRCm39)	D301N	probably damaging	Het
Or10ag56	A	T	2: 87,139,762 (GRCm39)	I230F	probably benign	Het
Or14a258	A	T	7: 86,035,289 (GRCm39)	I193N	probably benign	Het
Or5h26	A	G	16: 58,988,503 (GRCm39)	M1T	probably null	Het
Palmd	A	G	3: 116,721,083 (GRCm39)	S123P	probably damaging	Het
Patj	A	G	4: 98,325,560 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,655 (GRCm39)	D162G	probably benign	Het
Plppr5	A	G	3: 117,369,520 (GRCm39)	D59G	possibly damaging	Het
Pmvk	A	C	3: 89,369,189 (GRCm39)	R11S	possibly damaging	Het
Pnliprp1	A	G	19: 58,728,901 (GRCm39)	T363A	probably benign	Het
Poll	A	T	19: 45,547,277 (GRCm39)	I65N	probably benign	Het
Prox1	T	A	1: 189,893,009 (GRCm39)	S479C	probably damaging	Het
Prss50	A	T	9: 110,691,361 (GRCm39)	S222C	probably damaging	Het
Rasa3	A	C	8: 13,632,381 (GRCm39)		probably benign	Het
Sec14l3	T	C	11: 4,025,481 (GRCm39)	V335A	probably benign	Het
Setbp1	C	T	18: 78,899,935 (GRCm39)	S1244N	probably benign	Het
Sgcg	A	T	14: 61,483,213 (GRCm39)	F63I	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc2a13	T	A	15: 91,400,695 (GRCm39)	I176F	probably benign	Het
Smc6	A	G	12: 11,339,987 (GRCm39)	T432A	probably benign	Het
Snx25	G	A	8: 46,509,150 (GRCm39)	P478L	probably damaging	Het
Taf2	A	T	15: 54,879,882 (GRCm39)	H1151Q	probably damaging	Het
Thsd1	A	G	8: 22,749,673 (GRCm39)	K795R	possibly damaging	Het
Tmem108	G	A	9: 103,361,976 (GRCm39)	L537F	possibly damaging	Het
Ubr3	T	C	2: 69,766,361 (GRCm39)	Y410H	probably damaging	Het
Vav3	T	C	3: 109,555,055 (GRCm39)		probably null	Het
Vmn1r224	T	C	17: 20,639,524 (GRCm39)	Y34H	probably benign	Het
Zeb1	T	C	18: 5,766,458 (GRCm39)	V323A	possibly damaging	Het
Zfp652	A	G	11: 95,644,834 (GRCm39)	D240G	probably benign	Het
Zfp963	A	T	8: 70,195,996 (GRCm39)	C152*	probably null	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
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
R7061:Il24	UTSW	1	130,811,108 (GRCm39)	missense	possibly damaging	0.81
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'- CCAGACAGAGACCACTTTGC -3'
(R):5'- CCTTGGGATGAGTAAGCACAGTAG -3'

Sequencing Primer
(F):5'- AGAGACCACTTTGCCTCATG -3'
(R):5'- AGCACAGTAGTTTTCTGTAGCC -3'

Posted On

2014-09-18