Mutagenetix > Incidental Mutation

Incidental Mutation 'R9114:Il24'

692388

Institutional Source

Beutler Lab

Gene Symbol

Il24

Ensembl Gene

ENSMUSG00000026420

Gene Name

interleukin 24

Synonyms

FISP, Mda-7

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9114 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130809801-130815153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 130813483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 38 (T38I)

Ref Sequence

ENSEMBL: ENSMUSP00000113064 (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: T38I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113064
Gene: ENSMUSG00000026420
AA Change: T38I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000187650

SMART Domains

Protein: ENSMUSP00000140149
Gene: ENSMUSG00000026420

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: T38I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140821
Gene: ENSMUSG00000026420
AA Change: T38I

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: 99.6%
20x: 98.5%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,788,702 (GRCm39)	L1027*	probably null	Het
Actl11	T	A	9: 107,808,509 (GRCm39)	M944K	possibly damaging	Het
Afap1l2	T	C	19: 56,906,427 (GRCm39)	K491E	probably damaging	Het
Ahr	A	T	12: 35,561,164 (GRCm39)	D150E	probably damaging	Het
Arhgef1	T	A	7: 24,607,304 (GRCm39)	L17Q	probably damaging	Het
Bysl	A	G	17: 47,915,242 (GRCm39)	S169P		Het
C4b	A	T	17: 34,948,404 (GRCm39)	F1610I	probably damaging	Het
Chtf8	C	A	8: 107,612,481 (GRCm39)	A153S	probably benign	Het
Ciapin1	C	T	8: 95,558,400 (GRCm39)		probably null	Het
Cnnm1	A	G	19: 43,429,395 (GRCm39)	E171G	possibly damaging	Het
Crybb3	T	C	5: 113,225,407 (GRCm39)	N155S	probably benign	Het
Dclk3	T	A	9: 111,317,683 (GRCm39)	M773K	probably benign	Het
Ddx18	A	T	1: 121,489,267 (GRCm39)	V260D	probably damaging	Het
Dmxl2	T	A	9: 54,307,321 (GRCm39)	N2216Y		Het
Epn2	T	C	11: 61,437,446 (GRCm39)	E42G	probably damaging	Het
Esrrg	C	A	1: 187,878,605 (GRCm39)	P229T	probably benign	Het
Esrrg	C	A	1: 187,878,606 (GRCm39)	P229Q	possibly damaging	Het
Ethe1	G	T	7: 24,305,643 (GRCm39)	R130L	probably benign	Het
Fgl2	G	A	5: 21,580,363 (GRCm39)	C235Y	probably damaging	Het
Fmnl1	C	T	11: 103,087,327 (GRCm39)	T890M	unknown	Het
Fsip2	C	G	2: 82,807,301 (GRCm39)	P1207A	probably benign	Het
Gc	C	T	5: 89,593,165 (GRCm39)	D85N	possibly damaging	Het
Gfi1	G	A	5: 107,869,370 (GRCm39)	R287W	probably damaging	Het
Gm3629	T	C	14: 17,834,566 (GRCm39)		probably null	Het
Hapln3	A	G	7: 78,771,712 (GRCm39)	F59S	probably benign	Het
Izumo1	A	G	7: 45,276,583 (GRCm39)	D382G	probably benign	Het
Kdm5a	T	A	6: 120,382,887 (GRCm39)	Y739*	probably null	Het
Kif2b	T	A	11: 91,466,538 (GRCm39)	I582F	possibly damaging	Het
Klhdc1	A	G	12: 69,288,783 (GRCm39)	Y31C	probably damaging	Het
Lama1	G	A	17: 68,128,669 (GRCm39)	E3009K		Het
Mad2l1bp	G	A	17: 46,458,958 (GRCm39)	R191C	probably damaging	Het
Mark1	A	C	1: 184,644,261 (GRCm39)	S468A	probably damaging	Het
Mknk2	T	A	10: 80,504,823 (GRCm39)	N236Y	probably damaging	Het
Muc2	T	A	7: 141,287,983 (GRCm39)	C251*	probably null	Het
Nacad	T	C	11: 6,552,252 (GRCm39)	D313G	probably damaging	Het
Neb	G	T	2: 52,099,599 (GRCm39)	D4750E	probably benign	Het
Nlrp6	T	C	7: 140,506,332 (GRCm39)	S758P	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or13a28	A	C	7: 140,218,282 (GRCm39)	I223L	probably benign	Het
Or51b4	T	C	7: 103,530,569 (GRCm39)	T294A	possibly damaging	Het
Or8b3b	A	G	9: 38,583,892 (GRCm39)	F283L	probably benign	Het
Oxtr	A	G	6: 112,466,481 (GRCm39)	V93A	probably damaging	Het
Pbx3	C	A	2: 34,103,271 (GRCm39)	D234Y	probably damaging	Het
Pde4b	A	T	4: 102,459,826 (GRCm39)	T554S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pid1	A	T	1: 84,015,955 (GRCm39)	Y151N	probably damaging	Het
Plcd4	A	G	1: 74,591,307 (GRCm39)	E234G	possibly damaging	Het
Pou6f1	A	G	15: 100,478,789 (GRCm39)	V373A	probably benign	Het
Ppp1r12c	T	C	7: 4,485,792 (GRCm39)	K685E	possibly damaging	Het
Rnf34	T	A	5: 122,999,957 (GRCm39)	V71D	probably damaging	Het
Rpap2	T	G	5: 107,746,156 (GRCm39)	H11Q	possibly damaging	Het
Skint2	A	G	4: 112,496,834 (GRCm39)	T247A	probably benign	Het
Stat5b	T	A	11: 100,692,350 (GRCm39)	N145Y	probably damaging	Het
Sv2b	A	G	7: 74,856,017 (GRCm39)	L91P	probably damaging	Het
Syt1	A	G	10: 108,340,376 (GRCm39)	I314T	probably damaging	Het
Tlk1	A	T	2: 70,572,502 (GRCm39)	N355K	probably benign	Het
Tnc	C	A	4: 63,890,973 (GRCm39)	M1636I	probably benign	Het
Trank1	C	A	9: 111,162,843 (GRCm39)	A34D	probably damaging	Het
Unc13c	A	G	9: 73,719,665 (GRCm39)	I1001T	probably benign	Het
Vdr	T	C	15: 97,765,136 (GRCm39)	D201G	probably benign	Het
Vmn2r115	A	T	17: 23,564,307 (GRCm39)	I160L	probably benign	Het
Wdr81	C	A	11: 75,335,250 (GRCm39)	R1772L	probably damaging	Het
Zfp457	T	C	13: 67,442,068 (GRCm39)	D169G	probably benign	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
R7061:Il24	UTSW	1	130,811,108 (GRCm39)	missense	possibly damaging	0.81
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'- GAGCACTCACCACAGTGTTC -3'
(R):5'- TGGTAGTCTCAAAGCAGAGTGC -3'

Sequencing Primer
(F):5'- GTGTTCTTCACAGTCCAGAAGGC -3'
(R):5'- TATCATGTGGCAGGAAGGC -3'

Posted On

2021-12-30