Mutagenetix > Incidental Mutation

Incidental Mutation 'R0201:Il16'

23637

Institutional Source

Beutler Lab

Gene Symbol

Il16

Ensembl Gene

ENSMUSG00000001741

Gene Name

interleukin 16

Synonyms

MMRRC Submission

038458-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

R0201 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83642825-83745726 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83722308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 97 (C97R)

Ref Sequence

ENSEMBL: ENSMUSP00000118516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001792] [ENSMUST00000131916] [ENSMUST00000153560] [ENSMUST00000156553]

AlphaFold

O54824

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001792
AA Change: C97R

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000001792
Gene: ENSMUSG00000001741
AA Change: C97R

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: ENSMUST00000131916

Predicted Effect

probably damaging
Transcript: ENSMUST00000153560
AA Change: C97R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118516
Gene: ENSMUSG00000001741
AA Change: C97R

Domain	Start	End	E-Value	Type
low complexity region	76	92	N/A	INTRINSIC
low complexity region	99	115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156553

Meta Mutation Damage Score

0.1265

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

97% (91/94)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,581,957 (GRCm38)		probably null	Het
Adamts16	T	A	13: 70,779,644 (GRCm38)	Q492L	possibly damaging	Het
Aplnr	A	G	2: 85,137,177 (GRCm38)	D182G	probably damaging	Het
Arnt2	G	T	7: 84,361,659 (GRCm38)	S3*	probably null	Het
Asxl3	T	C	18: 22,523,154 (GRCm38)	V1407A	probably benign	Het
Atg13	A	T	2: 91,684,762 (GRCm38)		probably null	Het
Atm	A	T	9: 53,454,279 (GRCm38)		probably benign	Het
Birc6	T	G	17: 74,609,327 (GRCm38)	V1746G	possibly damaging	Het
Cbln1	G	T	8: 87,472,113 (GRCm38)	T43K	probably benign	Het
Cbx5	T	C	15: 103,199,700 (GRCm38)	T173A	probably damaging	Het
Cc2d2a	A	G	5: 43,737,512 (GRCm38)	Y1437C	probably damaging	Het
Ccdc78	C	A	17: 25,789,236 (GRCm38)		probably benign	Het
Cd2bp2	A	G	7: 127,193,828 (GRCm38)	Y341H	probably damaging	Het
Cdhr5	T	A	7: 141,276,378 (GRCm38)	D88V	probably damaging	Het
Ces1f	T	A	8: 93,267,329 (GRCm38)	T275S	probably null	Het
Clca4a	T	C	3: 144,960,717 (GRCm38)	N458S	probably benign	Het
Cog5	A	G	12: 31,839,841 (GRCm38)	K521R	probably damaging	Het
Csf2ra	T	A	19: 61,225,568 (GRCm38)	T305S	probably benign	Het
Csmd3	T	A	15: 47,619,729 (GRCm38)		probably benign	Het
Cts6	T	A	13: 61,201,499 (GRCm38)	R132*	probably null	Het
D5Ertd579e	G	T	5: 36,616,465 (GRCm38)	N195K	probably damaging	Het
Ddx1	A	G	12: 13,223,808 (GRCm38)	V606A	probably damaging	Het
Dip2b	G	A	15: 100,186,147 (GRCm38)	D884N	probably damaging	Het
Ehhadh	A	G	16: 21,773,493 (GRCm38)		probably null	Het
Enpp1	T	A	10: 24,653,917 (GRCm38)	T608S	probably benign	Het
Fancm	T	C	12: 65,101,632 (GRCm38)	Y674H	probably damaging	Het
Fat4	T	A	3: 38,891,596 (GRCm38)	V1546D	probably damaging	Het
Fsd1	G	A	17: 55,990,522 (GRCm38)	A158T	probably benign	Het
Fzd2	T	A	11: 102,606,122 (GRCm38)	M464K	probably damaging	Het
Gjc2	A	G	11: 59,177,590 (GRCm38)	F22S	possibly damaging	Het
Gm13101	T	C	4: 143,964,890 (GRCm38)	E421G	probably damaging	Het
Gria2	T	C	3: 80,707,838 (GRCm38)	Y445C	probably damaging	Het
Hsdl1	T	A	8: 119,566,256 (GRCm38)	I147F	possibly damaging	Het
Ifi44	T	C	3: 151,745,636 (GRCm38)	Y226C	probably damaging	Het
Impg1	A	T	9: 80,345,561 (GRCm38)	S369T	probably damaging	Het
Jmjd1c	A	G	10: 67,219,109 (GRCm38)	T390A	unknown	Het
Lgi1	A	G	19: 38,301,293 (GRCm38)	E269G	possibly damaging	Het
Lrp6	G	T	6: 134,450,897 (GRCm38)	Y1577*	probably null	Het
Lrrc74a	G	T	12: 86,761,773 (GRCm38)		probably benign	Het
Man1c1	A	T	4: 134,640,398 (GRCm38)		probably null	Het
Map1lc3b	A	C	8: 121,590,550 (GRCm38)	Q9P	possibly damaging	Het
Mboat1	G	A	13: 30,202,375 (GRCm38)	R124H	probably benign	Het
Mcu	A	G	10: 59,456,677 (GRCm38)	L60P	probably damaging	Het
Mrs2	G	T	13: 25,018,534 (GRCm38)	Q75K	probably benign	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Neb	G	A	2: 52,206,878 (GRCm38)		probably benign	Het
Nlrp2	C	T	7: 5,328,329 (GRCm38)	G356D	probably benign	Het
Notch3	A	G	17: 32,156,148 (GRCm38)		probably benign	Het
Npr2	A	C	4: 43,641,617 (GRCm38)	S474R	probably damaging	Het
Nupl1	A	G	14: 60,244,616 (GRCm38)	F100L	probably benign	Het
Osbpl6	A	C	2: 76,546,042 (GRCm38)	D87A	possibly damaging	Het
Pabpc2	A	T	18: 39,775,307 (GRCm38)	M542L	probably benign	Het
Papln	A	G	12: 83,783,027 (GRCm38)		probably benign	Het
Parpbp	T	C	10: 88,092,896 (GRCm38)	I561V	possibly damaging	Het
Pcdhb13	C	T	18: 37,442,581 (GRCm38)	A4V	probably benign	Het
Pelp1	T	C	11: 70,395,704 (GRCm38)	T533A	possibly damaging	Het
Poldip3	T	A	15: 83,135,296 (GRCm38)	M182L	probably benign	Het
Por	T	C	5: 135,731,178 (GRCm38)	S240P	possibly damaging	Het
Pramef20	A	T	4: 144,377,273 (GRCm38)		probably benign	Het
Prss22	A	T	17: 23,996,301 (GRCm38)	V167D	probably damaging	Het
Prss37	A	C	6: 40,516,349 (GRCm38)	L61R	probably damaging	Het
Psmd1	C	T	1: 86,118,616 (GRCm38)	T702M	probably benign	Het
Pxdn	G	T	12: 30,002,431 (GRCm38)	G869V	possibly damaging	Het
Rabgap1l	A	G	1: 160,453,745 (GRCm38)		probably benign	Het
Rapgef6	T	C	11: 54,619,941 (GRCm38)	V228A	probably damaging	Het
Rnf169	T	C	7: 99,926,003 (GRCm38)	R462G	possibly damaging	Het
Rnft2	A	G	5: 118,194,680 (GRCm38)		probably benign	Het
Sgo2b	T	C	8: 63,926,636 (GRCm38)	D1054G	probably benign	Het
Sh3bgr	T	C	16: 96,228,517 (GRCm38)		probably benign	Het
Slc12a4	A	G	8: 105,945,350 (GRCm38)	V910A	possibly damaging	Het
Slc6a12	A	T	6: 121,355,372 (GRCm38)	I222F	probably benign	Het
Spty2d1	G	A	7: 46,997,901 (GRCm38)	R427*	probably null	Het
Ssc5d	A	G	7: 4,944,663 (GRCm38)	T1339A	probably benign	Het
Sspo	A	C	6: 48,455,752 (GRCm38)	E854A	possibly damaging	Het
Stx7	A	G	10: 24,185,079 (GRCm38)		probably benign	Het
Styk1	A	T	6: 131,301,730 (GRCm38)		probably benign	Het
Tex33	T	A	15: 78,378,828 (GRCm38)	M209L	probably damaging	Het
Tmem163	T	G	1: 127,668,637 (GRCm38)		probably benign	Het
Tmppe	C	CT	9: 114,404,639 (GRCm38)		probably null	Het
Tmx2	A	G	2: 84,673,082 (GRCm38)	V229A	probably benign	Het
Top2b	T	C	14: 16,383,174 (GRCm38)	L54P	probably damaging	Het
Trim62	A	T	4: 128,902,550 (GRCm38)	Y280F	probably benign	Het
Tssk4	A	T	14: 55,651,559 (GRCm38)	K181*	probably null	Het
Tssk4	A	T	14: 55,651,560 (GRCm38)	K181M	probably damaging	Het
Ubn1	A	G	16: 5,064,614 (GRCm38)	D313G	probably damaging	Het
Ugt1a10	C	T	1: 88,215,123 (GRCm38)	P113L	probably damaging	Het
Ugt1a10	C	T	1: 88,218,249 (GRCm38)	P473L	probably damaging	Het

Other mutations in Il16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Il16	APN	7	83,652,458 (GRCm38)	missense	probably benign	0.02
IGL01743:Il16	APN	7	83,652,299 (GRCm38)	missense	probably benign	0.00
IGL01770:Il16	APN	7	83,673,026 (GRCm38)	splice site	probably benign
IGL02025:Il16	APN	7	83,652,848 (GRCm38)	missense	probably damaging	1.00
IGL02317:Il16	APN	7	83,666,889 (GRCm38)	missense	probably damaging	1.00
IGL02412:Il16	APN	7	83,652,691 (GRCm38)	missense	probably benign	0.03
IGL02550:Il16	APN	7	83,674,496 (GRCm38)	missense	possibly damaging	0.90
IGL02568:Il16	APN	7	83,661,276 (GRCm38)	missense	probably damaging	1.00
IGL02578:Il16	APN	7	83,677,986 (GRCm38)	critical splice donor site	probably null
IGL02815:Il16	APN	7	83,651,041 (GRCm38)	missense	probably damaging	0.98
IGL03157:Il16	APN	7	83,722,403 (GRCm38)	missense	probably damaging	1.00
IGL03161:Il16	APN	7	83,722,499 (GRCm38)	missense	probably damaging	1.00
IGL03188:Il16	APN	7	83,688,163 (GRCm38)	missense	probably benign	0.00
IGL03213:Il16	APN	7	83,646,500 (GRCm38)	missense	probably damaging	1.00
IGL03274:Il16	APN	7	83,661,234 (GRCm38)	missense	probably damaging	1.00
R0309:Il16	UTSW	7	83,722,554 (GRCm38)	missense	probably damaging	1.00
R0597:Il16	UTSW	7	83,677,975 (GRCm38)	splice site	probably benign
R0942:Il16	UTSW	7	83,663,141 (GRCm38)	missense	probably benign	0.01
R1018:Il16	UTSW	7	83,674,538 (GRCm38)	missense	probably damaging	1.00
R1434:Il16	UTSW	7	83,655,312 (GRCm38)	missense	probably benign
R1715:Il16	UTSW	7	83,648,728 (GRCm38)	missense	probably benign	0.01
R2179:Il16	UTSW	7	83,688,079 (GRCm38)	splice site	probably null
R2520:Il16	UTSW	7	83,651,994 (GRCm38)	missense	probably benign	0.03
R3425:Il16	UTSW	7	83,644,040 (GRCm38)	missense	probably damaging	1.00
R3761:Il16	UTSW	7	83,650,885 (GRCm38)	missense	possibly damaging	0.96
R3943:Il16	UTSW	7	83,652,015 (GRCm38)	missense	probably damaging	0.97
R4470:Il16	UTSW	7	83,650,838 (GRCm38)	intron	probably benign
R4530:Il16	UTSW	7	83,681,310 (GRCm38)	intron	probably benign
R4583:Il16	UTSW	7	83,682,899 (GRCm38)	missense	probably damaging	1.00
R4777:Il16	UTSW	7	83,650,896 (GRCm38)	missense	probably benign	0.14
R4874:Il16	UTSW	7	83,660,945 (GRCm38)	missense	possibly damaging	0.56
R4876:Il16	UTSW	7	83,673,094 (GRCm38)	missense	probably benign
R5677:Il16	UTSW	7	83,674,553 (GRCm38)	missense	probably damaging	1.00
R5686:Il16	UTSW	7	83,648,728 (GRCm38)	missense	probably benign	0.36
R5920:Il16	UTSW	7	83,652,344 (GRCm38)	missense	probably benign	0.03
R6115:Il16	UTSW	7	83,652,567 (GRCm38)	nonsense	probably null
R6459:Il16	UTSW	7	83,722,328 (GRCm38)	missense	probably damaging	1.00
R6459:Il16	UTSW	7	83,722,321 (GRCm38)	missense	probably damaging	1.00
R6601:Il16	UTSW	7	83,722,469 (GRCm38)	missense	probably damaging	1.00
R6616:Il16	UTSW	7	83,646,476 (GRCm38)	missense	probably benign	0.37
R6642:Il16	UTSW	7	83,688,127 (GRCm38)	missense	probably benign	0.03
R6721:Il16	UTSW	7	83,663,062 (GRCm38)	critical splice donor site	probably null
R7009:Il16	UTSW	7	83,646,388 (GRCm38)	missense	probably benign
R7144:Il16	UTSW	7	83,646,451 (GRCm38)	missense	probably damaging	0.97
R7346:Il16	UTSW	7	83,644,041 (GRCm38)	missense	probably damaging	1.00
R7403:Il16	UTSW	7	83,670,135 (GRCm38)	missense	probably damaging	1.00
R7499:Il16	UTSW	7	83,674,494 (GRCm38)	missense	probably damaging	0.99
R7814:Il16	UTSW	7	83,670,140 (GRCm38)	missense	possibly damaging	0.46
R7941:Il16	UTSW	7	83,682,829 (GRCm38)	missense	probably damaging	0.98
R8098:Il16	UTSW	7	83,646,559 (GRCm38)	missense	probably damaging	1.00
R8317:Il16	UTSW	7	83,655,330 (GRCm38)	missense	probably benign
R8437:Il16	UTSW	7	83,652,143 (GRCm38)	missense	probably damaging	1.00
R9094:Il16	UTSW	7	83,652,351 (GRCm38)	missense	probably benign
R9267:Il16	UTSW	7	83,722,549 (GRCm38)	missense	probably benign	0.01
R9445:Il16	UTSW	7	83,688,172 (GRCm38)	nonsense	probably null
R9595:Il16	UTSW	7	83,673,065 (GRCm38)	nonsense	probably null
R9651:Il16	UTSW	7	83,682,856 (GRCm38)	missense	probably damaging	0.96
Z1176:Il16	UTSW	7	83,652,827 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TATCAAGCCCTTTGCCGTGAGTCC -3'
(R):5'- CTGATCCTCTGTAACGCCAAGACC -3'

Sequencing Primer
(F):5'- CGTGAGTCCTGGGCAGC -3'
(R):5'- GCCCAGATGAGAAGTACCCTG -3'

Posted On

2013-04-16