Mutagenetix > Incidental Mutation

Incidental Mutation 'R7144:Il16'

553637

Institutional Source

Beutler Lab

Gene Symbol

Il16

Ensembl Gene

ENSMUSG00000001741

Gene Name

interleukin 16

Synonyms

MMRRC Submission

045328-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R7144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83292033-83394934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83295659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1170 (D1170V)

Ref Sequence

ENSEMBL: ENSMUSP00000001792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001792] [ENSMUST00000075418] [ENSMUST00000117410] [ENSMUST00000145610]

AlphaFold

O54824

Predicted Effect

probably damaging
Transcript: ENSMUST00000001792
AA Change: D1170V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001792
Gene: ENSMUSG00000001741
AA Change: D1170V

Domain	Start	End	E-Value	Type
low complexity region	76	92	N/A	INTRINSIC
low complexity region	99	115	N/A	INTRINSIC
PDZ	222	300	6.5e-23	SMART
PDZ	361	438	3.89e-12	SMART
low complexity region	507	526	N/A	INTRINSIC
low complexity region	556	577	N/A	INTRINSIC
low complexity region	589	602	N/A	INTRINSIC
low complexity region	647	680	N/A	INTRINSIC
low complexity region	776	787	N/A	INTRINSIC
low complexity region	825	839	N/A	INTRINSIC
low complexity region	978	989	N/A	INTRINSIC
PDZ	1115	1192	3.6e-16	SMART
low complexity region	1201	1216	N/A	INTRINSIC
PDZ	1234	1310	4.11e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075418

SMART Domains

Protein: ENSMUSP00000074872
Gene: ENSMUSG00000046027

Domain	Start	End	E-Value	Type
START	7	210	8.57e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117410

SMART Domains

Protein: ENSMUSP00000112781
Gene: ENSMUSG00000046027

Domain	Start	End	E-Value	Type
Pfam:START	7	196	5.9e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000145610
AA Change: D472V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (95/96)

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 pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele display a transient but consistent increase of thymidine incorporation in anti-CD3-stimulated CD4+ T cells, but fail to show a hyperproliferative T cell phenotype using BrdU labeling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,032,796 (GRCm39)	I272F	possibly damaging	Het
Adcy10	G	T	1: 165,337,939 (GRCm39)	M184I	probably benign	Het
Aldoa	G	T	7: 126,396,034 (GRCm39)	T124N	possibly damaging	Het
Ap4e1	T	A	2: 126,853,727 (GRCm39)	I55N	probably damaging	Het
Arhgap21	T	C	2: 20,870,198 (GRCm39)	T913A	probably benign	Het
Atrnl1	G	A	19: 58,030,784 (GRCm39)	E1309K	probably damaging	Het
BC034090	A	T	1: 155,117,777 (GRCm39)	C114S	probably damaging	Het
Brinp2	A	G	1: 158,122,994 (GRCm39)		probably null	Het
Ccn4	T	A	15: 66,784,879 (GRCm39)	V184E	probably damaging	Het
Ccna1	G	T	3: 54,953,120 (GRCm39)	H408Q	probably benign	Het
Cd209g	T	G	8: 4,185,189 (GRCm39)		probably benign	Het
Cdc20b	A	G	13: 113,219,905 (GRCm39)	I433V	probably benign	Het
Cdk2ap1	G	A	5: 124,492,421 (GRCm39)	P5L	probably damaging	Het
Cep128	T	C	12: 91,260,933 (GRCm39)	E310G	probably damaging	Het
Cflar	G	T	1: 58,793,007 (GRCm39)	V458F		Het
Clec4b2	A	G	6: 123,158,343 (GRCm39)	T70A	probably benign	Het
Cntnap5c	A	G	17: 58,593,883 (GRCm39)	T741A	probably benign	Het
Csf3r	A	T	4: 125,937,515 (GRCm39)	T800S	probably benign	Het
Csnk1g2	T	C	10: 80,473,733 (GRCm39)	Y67H	probably damaging	Het
Cyp2c67	A	T	19: 39,604,138 (GRCm39)	V406E	probably benign	Het
Dnah10	A	G	5: 124,900,006 (GRCm39)	D3868G	probably damaging	Het
Dnah7a	A	T	1: 53,737,867 (GRCm39)		probably null	Het
Dst	A	G	1: 34,191,324 (GRCm39)	N208S	probably damaging	Het
Echdc3	A	G	2: 6,211,224 (GRCm39)		probably null	Het
Edrf1	T	C	7: 133,239,578 (GRCm39)	S13P	probably benign	Het
Ephb1	T	C	9: 101,841,276 (GRCm39)	Y734C	probably damaging	Het
Eps8l1	A	G	7: 4,475,184 (GRCm39)	Y325C	probably damaging	Het
Evc2	A	G	5: 37,544,183 (GRCm39)	D644G	probably damaging	Het
Eya4	A	C	10: 23,048,943 (GRCm39)	D54E	probably benign	Het
Filip1	T	C	9: 79,727,495 (GRCm39)	S375G	possibly damaging	Het
Fmo9	A	G	1: 166,505,189 (GRCm39)	M68T	probably benign	Het
Gemin5	G	C	11: 58,032,489 (GRCm39)	P772A	probably benign	Het
Gle1	T	G	2: 29,833,805 (GRCm39)	C401G	probably damaging	Het
Gm7298	A	T	6: 121,738,546 (GRCm39)	I376F	probably damaging	Het
Gpr35	A	C	1: 92,910,353 (GRCm39)	I22L	probably benign	Het
Grin2b	T	G	6: 135,710,474 (GRCm39)	D1024A	possibly damaging	Het
Hmcn1	T	C	1: 150,539,624 (GRCm39)	N2956D	probably damaging	Het
Htt	T	C	5: 35,003,350 (GRCm39)	L1275P	probably damaging	Het
Ibtk	T	C	9: 85,625,744 (GRCm39)	D2G	probably benign	Het
Iqgap3	T	A	3: 88,024,217 (GRCm39)	I1513N	probably damaging	Het
Kiz	T	G	2: 146,792,430 (GRCm39)		probably null	Het
Krt12	A	T	11: 99,306,839 (GRCm39)	*488K	probably null	Het
Lap3	A	T	5: 45,654,290 (GRCm39)	T83S	probably benign	Het
Lars2	T	A	9: 123,261,058 (GRCm39)	S410T	probably damaging	Het
Limch1	A	G	5: 67,175,001 (GRCm39)	T518A	probably benign	Het
Lrrc49	A	T	9: 60,522,439 (GRCm39)	S381T	probably damaging	Het
Lrrk2	A	G	15: 91,618,258 (GRCm39)	D919G	possibly damaging	Het
Mmp1a	A	T	9: 7,475,319 (GRCm39)	S363C	probably damaging	Het
Mrps22	A	C	9: 98,483,524 (GRCm39)		probably null	Het
Mybpc3	T	C	2: 90,964,949 (GRCm39)	I1066T	probably benign	Het
Myo10	A	T	15: 25,724,011 (GRCm39)	N215I	probably damaging	Het
Myocd	A	C	11: 65,109,474 (GRCm39)	L99R	probably damaging	Het
Nadk	T	G	4: 155,673,793 (GRCm39)	I394S	probably damaging	Het
Nadsyn1	T	C	7: 143,364,952 (GRCm39)	N251S	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Ncapd2	G	A	6: 125,153,633 (GRCm39)	P694L	probably benign	Het
Or2ag1	T	A	7: 106,473,075 (GRCm39)	I126F	probably damaging	Het
Or2w3b	A	C	11: 58,623,571 (GRCm39)	L140R	probably damaging	Het
Or4a71	T	C	2: 89,357,901 (GRCm39)	I284M	probably damaging	Het
Or5t16	G	T	2: 86,819,164 (GRCm39)	R119S	probably damaging	Het
Pcdhb13	T	A	18: 37,576,309 (GRCm39)	I229K	probably damaging	Het
Pgbd5	A	T	8: 125,101,056 (GRCm39)	M400K	possibly damaging	Het
Phactr3	A	G	2: 177,944,529 (GRCm39)	N409S	probably damaging	Het
Pik3c2g	C	A	6: 139,606,868 (GRCm39)	P305Q	probably damaging	Het
Pik3r4	G	A	9: 105,527,783 (GRCm39)	V379M	probably damaging	Het
Pira12	A	G	7: 3,900,615 (GRCm39)	V45A	probably damaging	Het
Pkd1l2	A	T	8: 117,802,870 (GRCm39)	C250*	probably null	Het
Pramel14	A	C	4: 143,718,103 (GRCm39)	S447A	probably benign	Het
Rapgef6	A	C	11: 54,548,191 (GRCm39)	T792P	possibly damaging	Het
Rexo5	A	G	7: 119,404,414 (GRCm39)	D170G	probably damaging	Het
Rnf17	G	A	14: 56,749,789 (GRCm39)		probably null	Het
Septin11	A	G	5: 93,304,725 (GRCm39)	I181V	probably benign	Het
Serpina1e	T	G	12: 103,913,277 (GRCm39)	*414C	probably null	Het
Serpine1	C	A	5: 137,099,918 (GRCm39)	Q80H	probably damaging	Het
Sh3bp2	A	G	5: 34,718,975 (GRCm39)	N560S	probably benign	Het
Slc25a25	A	G	2: 32,309,178 (GRCm39)	F221S	probably damaging	Het
Spag17	G	T	3: 99,934,717 (GRCm39)		probably null	Het
Sspn	T	C	6: 145,906,881 (GRCm39)	L104P	probably damaging	Het
St18	A	C	1: 6,903,818 (GRCm39)	E693A	probably damaging	Het
St6galnac3	T	C	3: 153,117,169 (GRCm39)	I185V	possibly damaging	Het
St8sia1	T	C	6: 142,822,395 (GRCm39)	D156G	probably damaging	Het
Syne2	C	A	12: 76,052,152 (GRCm39)	S4092R	probably benign	Het
Tll1	T	A	8: 64,577,979 (GRCm39)	D76V	possibly damaging	Het
Tmco1	C	T	1: 167,136,022 (GRCm39)		probably benign	Het
Tnfaip3	T	A	10: 18,883,029 (GRCm39)	T179S	probably benign	Het
Trav16	T	C	14: 53,981,096 (GRCm39)	I95T	possibly damaging	Het
Trip12	A	T	1: 84,771,435 (GRCm39)	S280T	probably damaging	Het
Unc79	A	G	12: 103,108,885 (GRCm39)	M2166V	probably benign	Het
Vmn2r1	A	G	3: 63,997,362 (GRCm39)	I339M	probably damaging	Het
Vwa5b1	A	G	4: 138,332,742 (GRCm39)		probably null	Het
Washc4	A	T	10: 83,409,638 (GRCm39)		probably null	Het
Wiz	A	G	17: 32,576,602 (GRCm39)	S642P	possibly damaging	Het
Zeb2	T	A	2: 45,000,053 (GRCm39)	K60N	possibly damaging	Het
Zfat	T	A	15: 68,050,631 (GRCm39)	T797S	probably benign	Het
Zfp74	T	C	7: 29,634,590 (GRCm39)	K373E	probably damaging	Het
Zswim5	T	C	4: 116,833,173 (GRCm39)		probably null	Het

Other mutations in Il16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Il16	APN	7	83,301,666 (GRCm39)	missense	probably benign	0.02
IGL01743:Il16	APN	7	83,301,507 (GRCm39)	missense	probably benign	0.00
IGL01770:Il16	APN	7	83,322,234 (GRCm39)	splice site	probably benign
IGL02025:Il16	APN	7	83,302,056 (GRCm39)	missense	probably damaging	1.00
IGL02317:Il16	APN	7	83,316,097 (GRCm39)	missense	probably damaging	1.00
IGL02412:Il16	APN	7	83,301,899 (GRCm39)	missense	probably benign	0.03
IGL02550:Il16	APN	7	83,323,704 (GRCm39)	missense	possibly damaging	0.90
IGL02568:Il16	APN	7	83,310,484 (GRCm39)	missense	probably damaging	1.00
IGL02578:Il16	APN	7	83,327,194 (GRCm39)	critical splice donor site	probably null
IGL02815:Il16	APN	7	83,300,249 (GRCm39)	missense	probably damaging	0.98
IGL03157:Il16	APN	7	83,371,611 (GRCm39)	missense	probably damaging	1.00
IGL03161:Il16	APN	7	83,371,707 (GRCm39)	missense	probably damaging	1.00
IGL03188:Il16	APN	7	83,337,371 (GRCm39)	missense	probably benign	0.00
IGL03213:Il16	APN	7	83,295,708 (GRCm39)	missense	probably damaging	1.00
IGL03274:Il16	APN	7	83,310,442 (GRCm39)	missense	probably damaging	1.00
R0201:Il16	UTSW	7	83,371,516 (GRCm39)	missense	probably damaging	0.99
R0309:Il16	UTSW	7	83,371,762 (GRCm39)	missense	probably damaging	1.00
R0597:Il16	UTSW	7	83,327,183 (GRCm39)	splice site	probably benign
R0942:Il16	UTSW	7	83,312,349 (GRCm39)	missense	probably benign	0.01
R1018:Il16	UTSW	7	83,323,746 (GRCm39)	missense	probably damaging	1.00
R1434:Il16	UTSW	7	83,304,520 (GRCm39)	missense	probably benign
R1715:Il16	UTSW	7	83,297,936 (GRCm39)	missense	probably benign	0.01
R2179:Il16	UTSW	7	83,337,287 (GRCm39)	splice site	probably null
R2520:Il16	UTSW	7	83,301,202 (GRCm39)	missense	probably benign	0.03
R3425:Il16	UTSW	7	83,293,248 (GRCm39)	missense	probably damaging	1.00
R3761:Il16	UTSW	7	83,300,093 (GRCm39)	missense	possibly damaging	0.96
R3943:Il16	UTSW	7	83,301,223 (GRCm39)	missense	probably damaging	0.97
R4470:Il16	UTSW	7	83,300,046 (GRCm39)	intron	probably benign
R4530:Il16	UTSW	7	83,330,518 (GRCm39)	intron	probably benign
R4583:Il16	UTSW	7	83,332,107 (GRCm39)	missense	probably damaging	1.00
R4777:Il16	UTSW	7	83,300,104 (GRCm39)	missense	probably benign	0.14
R4874:Il16	UTSW	7	83,310,153 (GRCm39)	missense	possibly damaging	0.56
R4876:Il16	UTSW	7	83,322,302 (GRCm39)	missense	probably benign
R5677:Il16	UTSW	7	83,323,761 (GRCm39)	missense	probably damaging	1.00
R5686:Il16	UTSW	7	83,297,936 (GRCm39)	missense	probably benign	0.36
R5920:Il16	UTSW	7	83,301,552 (GRCm39)	missense	probably benign	0.03
R6115:Il16	UTSW	7	83,301,775 (GRCm39)	nonsense	probably null
R6459:Il16	UTSW	7	83,371,536 (GRCm39)	missense	probably damaging	1.00
R6459:Il16	UTSW	7	83,371,529 (GRCm39)	missense	probably damaging	1.00
R6601:Il16	UTSW	7	83,371,677 (GRCm39)	missense	probably damaging	1.00
R6616:Il16	UTSW	7	83,295,684 (GRCm39)	missense	probably benign	0.37
R6642:Il16	UTSW	7	83,337,335 (GRCm39)	missense	probably benign	0.03
R6721:Il16	UTSW	7	83,312,270 (GRCm39)	critical splice donor site	probably null
R7009:Il16	UTSW	7	83,295,596 (GRCm39)	missense	probably benign
R7346:Il16	UTSW	7	83,293,249 (GRCm39)	missense	probably damaging	1.00
R7403:Il16	UTSW	7	83,319,343 (GRCm39)	missense	probably damaging	1.00
R7499:Il16	UTSW	7	83,323,702 (GRCm39)	missense	probably damaging	0.99
R7814:Il16	UTSW	7	83,319,348 (GRCm39)	missense	possibly damaging	0.46
R7941:Il16	UTSW	7	83,332,037 (GRCm39)	missense	probably damaging	0.98
R8098:Il16	UTSW	7	83,295,767 (GRCm39)	missense	probably damaging	1.00
R8317:Il16	UTSW	7	83,304,538 (GRCm39)	missense	probably benign
R8437:Il16	UTSW	7	83,301,351 (GRCm39)	missense	probably damaging	1.00
R9094:Il16	UTSW	7	83,301,559 (GRCm39)	missense	probably benign
R9267:Il16	UTSW	7	83,371,757 (GRCm39)	missense	probably benign	0.01
R9445:Il16	UTSW	7	83,337,380 (GRCm39)	nonsense	probably null
R9595:Il16	UTSW	7	83,322,273 (GRCm39)	nonsense	probably null
R9651:Il16	UTSW	7	83,332,064 (GRCm39)	missense	probably damaging	0.96
Z1176:Il16	UTSW	7	83,302,035 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGCCAAAGACAGAATGTACCTC -3'
(R):5'- ATACCTGTCTCAGAGGCCTC -3'

Sequencing Primer
(F):5'- TCAAAAGGCGCATCTCCC -3'
(R):5'- TCTGCCAGCCCTCCCAG -3'

Posted On

2019-05-15