Mutagenetix > Incidental Mutation

Incidental Mutation 'R8988:Il18'

684230

Institutional Source

Beutler Lab

Gene Symbol

Il18

Ensembl Gene

ENSMUSG00000039217

Gene Name

interleukin 18

Synonyms

Il-18, Igif

MMRRC Submission

068820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50466127-50493140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50489178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 69 (D69V)

Ref Sequence

ENSEMBL: ENSMUSP00000150305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059081] [ENSMUST00000180021] [ENSMUST00000213916] [ENSMUST00000214117]

AlphaFold

P70380

Predicted Effect

probably damaging
Transcript: ENSMUST00000059081
AA Change: D69V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054591
Gene: ENSMUSG00000039217
AA Change: D69V

Domain	Start	End	E-Value	Type
IL1	49	187	7.09e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000180021
AA Change: D69V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137193
Gene: ENSMUSG00000039217
AA Change: D69V

Domain	Start	End	E-Value	Type
IL1	49	187	7.09e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000213916
AA Change: D69V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214117
AA Change: D69V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (81/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a proinflammatory cytokine that augments natural killer cell activity in spleen cells, and stimulates interferon gamma production in T-helper type I cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for null alleles are deficient in producing IFN-gamma in response to infectious agents and have other impairments of the immune system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	C	T	1: 60,489,251 (GRCm39)	T291I	probably benign	Het
Aox1	A	C	1: 58,088,625 (GRCm39)	D137A	possibly damaging	Het
Apbb2	T	C	5: 66,609,444 (GRCm39)	K68E	probably damaging	Het
Arf3	A	T	15: 98,638,933 (GRCm39)	M108K	probably benign	Het
Atg2b	T	A	12: 105,583,388 (GRCm39)	I2058F	probably damaging	Het
Bhlhe40	C	T	6: 108,639,518 (GRCm39)	L99F	probably damaging	Het
Cd200l1	T	C	16: 45,238,271 (GRCm39)	H294R	probably benign	Het
Cyp2b10	G	A	7: 25,625,670 (GRCm39)	R500H	probably damaging	Het
Dlc1	C	T	8: 37,039,997 (GRCm39)	E937K	probably damaging	Het
Dll3	A	T	7: 27,995,793 (GRCm39)	V336D	possibly damaging	Het
Dync2h1	A	G	9: 7,037,727 (GRCm39)	F3377L	probably benign	Het
Eef1d	A	G	15: 75,768,160 (GRCm39)	Y561H	probably damaging	Het
Efcab3	T	G	11: 104,911,352 (GRCm39)	V4544G	probably benign	Het
Epb41l1	C	A	2: 156,363,591 (GRCm39)	T700K	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Ephb2	C	A	4: 136,402,769 (GRCm39)	G501C	probably benign	Het
Erbb3	T	C	10: 128,406,030 (GRCm39)	Y1129C	probably damaging	Het
Fbn1	C	T	2: 125,212,726 (GRCm39)	V799M	possibly damaging	Het
Fbxo9	G	A	9: 77,991,933 (GRCm39)	P353S	probably benign	Het
Ggt1	T	G	10: 75,412,056 (GRCm39)	V100G	probably benign	Het
Gm45861	T	C	8: 28,032,531 (GRCm39)	M885T	unknown	Het
Grin2d	A	T	7: 45,483,425 (GRCm39)	Y917*	probably null	Het
Hectd4	T	A	5: 121,415,819 (GRCm39)	V540D	possibly damaging	Het
Helz	T	A	11: 107,495,079 (GRCm39)	I351K	probably damaging	Het
Ighv2-6-8	A	G	12: 113,759,980 (GRCm39)	V43A	probably damaging	Het
Igkv9-129	T	A	6: 67,817,106 (GRCm39)	I70N	probably damaging	Het
Kcnh7	T	A	2: 62,552,209 (GRCm39)	E927D		Het
Kcnt2	T	A	1: 140,356,587 (GRCm39)	V342E	probably benign	Het
Khdc4	A	G	3: 88,607,286 (GRCm39)	N330S	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Krt18	C	G	15: 101,937,962 (GRCm39)	A153G	probably damaging	Het
Lmntd2	A	T	7: 140,791,977 (GRCm39)		probably benign	Het
Lrrc26	G	T	2: 25,180,286 (GRCm39)	A96S	probably benign	Het
Map3k11	A	T	19: 5,752,166 (GRCm39)	S783C	probably damaging	Het
Mib2	G	A	4: 155,740,729 (GRCm39)	L632F	possibly damaging	Het
Mical2	A	C	7: 111,910,661 (GRCm39)	D277A	possibly damaging	Het
Mtr	A	T	13: 12,250,365 (GRCm39)	F339L	probably benign	Het
Musk	T	C	4: 58,354,032 (GRCm39)	F362L	probably benign	Het
Ncor1	G	A	11: 62,233,871 (GRCm39)	Q444*	probably null	Het
Nek4	T	C	14: 30,685,924 (GRCm39)	S279P		Het
Nell1	C	T	7: 50,210,543 (GRCm39)	T348I	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nrip1	T	C	16: 76,088,902 (GRCm39)	H885R	probably damaging	Het
Or13a19	G	A	7: 139,902,938 (GRCm39)	G109R	possibly damaging	Het
Or2a5	T	A	6: 42,874,201 (GRCm39)	V272D		Het
Or2y12	C	A	11: 49,426,028 (GRCm39)	N5K	probably damaging	Het
Or6c208	T	C	10: 129,224,240 (GRCm39)	V246A	probably damaging	Het
Or6c69c	T	A	10: 129,910,522 (GRCm39)	V81D	possibly damaging	Het
Or6d14	A	G	6: 116,534,255 (GRCm39)	T290A	possibly damaging	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
P3h3	C	A	6: 124,834,564 (GRCm39)	Q29H	possibly damaging	Het
Parn	A	G	16: 13,466,281 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,245,407 (GRCm39)	E1077*	probably null	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pigb	A	G	9: 72,929,576 (GRCm39)	W336R	probably damaging	Het
Pkdrej	A	T	15: 85,700,538 (GRCm39)	S1799R	probably damaging	Het
Pnpla6	G	T	8: 3,567,401 (GRCm39)	M86I	possibly damaging	Het
Prickle2	T	C	6: 92,435,620 (GRCm39)	K50E	possibly damaging	Het
Psg21	A	G	7: 18,386,389 (GRCm39)	V199A	probably benign	Het
Reep3	T	C	10: 66,871,786 (GRCm39)		probably null	Het
Reln	T	C	5: 22,104,155 (GRCm39)	D3272G	probably damaging	Het
Rps6ka4	A	G	19: 6,808,667 (GRCm39)	V526A	possibly damaging	Het
Sel1l3	T	C	5: 53,280,771 (GRCm39)	E911G	probably damaging	Het
Serpinb6b	C	A	13: 33,162,125 (GRCm39)	A308E	probably benign	Het
Slc26a4	A	G	12: 31,572,523 (GRCm39)	V746A	probably benign	Het
Slc4a3	T	G	1: 75,527,957 (GRCm39)	M402R	probably damaging	Het
Slc9b1	A	T	3: 135,078,900 (GRCm39)	T186S	possibly damaging	Het
Slk	A	G	19: 47,608,712 (GRCm39)	Q555R	probably benign	Het
Smc2	T	A	4: 52,475,100 (GRCm39)	D925E	probably benign	Het
Stat5a	A	T	11: 100,774,764 (GRCm39)	T758S	unknown	Het
Sulf1	A	G	1: 12,906,499 (GRCm39)	S514G	probably benign	Het
Tcp11l1	T	A	2: 104,536,853 (GRCm39)	N4I	probably damaging	Het
Tex2	A	T	11: 106,402,731 (GRCm39)	I1047K	unknown	Het
Tmem184b	A	G	15: 79,261,264 (GRCm39)	V114A	possibly damaging	Het
Trmt11	A	G	10: 30,467,027 (GRCm39)	V95A	probably benign	Het
Trp53bp2	A	G	1: 182,268,433 (GRCm39)	D169G	possibly damaging	Het
Ttc41	T	A	10: 86,549,599 (GRCm39)	N264K	possibly damaging	Het
Uba2	A	C	7: 33,853,987 (GRCm39)	S318R	probably benign	Het
Wapl	T	A	14: 34,451,139 (GRCm39)	N724K	probably damaging	Het
Wfdc9	T	A	2: 164,493,671 (GRCm39)	I5F	probably damaging	Het
Zan	C	T	5: 137,406,563 (GRCm39)	D3686N	unknown	Het
Zfp618	A	T	4: 63,012,708 (GRCm39)	Y140F	probably benign	Het
Zfp790	A	G	7: 29,527,593 (GRCm39)	T93A	probably benign	Het
Zfp979	A	C	4: 147,697,984 (GRCm39)	F242V	probably benign	Het

Other mutations in Il18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Il18	APN	9	50,490,629 (GRCm39)	missense	probably damaging	1.00
IGL02258:Il18	APN	9	50,488,003 (GRCm39)	missense	probably benign	0.00
R0091:Il18	UTSW	9	50,488,013 (GRCm39)	splice site	probably benign
R0355:Il18	UTSW	9	50,490,575 (GRCm39)	splice site	probably benign
R0504:Il18	UTSW	9	50,486,628 (GRCm39)	missense	probably damaging	0.99
R2295:Il18	UTSW	9	50,490,635 (GRCm39)	missense	probably benign	0.33
R4162:Il18	UTSW	9	50,490,712 (GRCm39)	missense	probably damaging	1.00
R5117:Il18	UTSW	9	50,492,809 (GRCm39)	missense	possibly damaging	0.72
R5160:Il18	UTSW	9	50,489,193 (GRCm39)	critical splice donor site	probably null
R7361:Il18	UTSW	9	50,490,614 (GRCm39)	missense	probably damaging	1.00
R7462:Il18	UTSW	9	50,476,673 (GRCm39)	unclassified	probably benign
R7522:Il18	UTSW	9	50,486,640 (GRCm39)	missense	probably damaging	1.00
R7654:Il18	UTSW	9	50,490,701 (GRCm39)	missense	possibly damaging	0.86
R8220:Il18	UTSW	9	50,486,616 (GRCm39)	missense	possibly damaging	0.54
R8319:Il18	UTSW	9	50,492,818 (GRCm39)	missense	possibly damaging	0.73
R8720:Il18	UTSW	9	50,476,684 (GRCm39)	unclassified	probably benign
R9052:Il18	UTSW	9	50,489,090 (GRCm39)	missense	possibly damaging	0.92
R9585:Il18	UTSW	9	50,490,661 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATCATTGCTGCACCTAGAGG -3'
(R):5'- AAGTATGGGCACGCTCTAAAG -3'

Sequencing Primer
(F):5'- CCTAGAGGTATGTACTGACTCTAGAG -3'
(R):5'- CATTTAAGGATGGGGTCAAAG -3'

Posted On

2021-10-11