Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03157:Il16'

411317

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il16

Ensembl Gene

ENSMUSG00000001741

Gene Name

interleukin 16

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL03157

Quality Score

Status

Chromosome

Chromosomal Location

83292033-83394934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83371611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 65 (D65G)

Ref Sequence

ENSEMBL: ENSMUSP00000118516 (fasta)

Gene Model

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

AlphaFold

O54824

Predicted Effect

probably damaging
Transcript: ENSMUST00000001792
AA Change: D65G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001792
Gene: ENSMUSG00000001741
AA Change: D65G

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: D65G

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

SMART Domains

Protein: ENSMUSP00000118516
Gene: ENSMUSG00000001741
AA Change: D65G

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

Coding Region Coverage

Validation Efficiency

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	G	A	6: 142,551,649 (GRCm39)		probably benign	Het
Adam30	A	C	3: 98,069,612 (GRCm39)	K482Q	possibly damaging	Het
Aqp4	T	C	18: 15,533,037 (GRCm39)	R19G	probably benign	Het
Arhgap32	C	T	9: 32,170,430 (GRCm39)	P1070L	probably damaging	Het
Bcat2	T	C	7: 45,224,922 (GRCm39)	I31T	probably benign	Het
Csmd2	T	A	4: 128,308,092 (GRCm39)	C1283*	probably null	Het
Fasn	A	G	11: 120,698,735 (GRCm39)	I2487T	probably benign	Het
Gys1	A	G	7: 45,089,323 (GRCm39)		probably benign	Het
Helz	A	G	11: 107,468,714 (GRCm39)	D79G	possibly damaging	Het
Iqgap1	C	T	7: 80,401,636 (GRCm39)	E490K	probably benign	Het
Kcnv2	A	G	19: 27,301,366 (GRCm39)	K406E	probably damaging	Het
Kif26b	T	A	1: 178,743,930 (GRCm39)	L1342H	probably damaging	Het
Nlrp3	A	G	11: 59,440,372 (GRCm39)	K650E	possibly damaging	Het
Opn1sw	T	A	6: 29,379,803 (GRCm39)	N144Y	possibly damaging	Het
Or2b2b	T	C	13: 21,859,112 (GRCm39)	M1V	probably null	Het
Or6z1	A	G	7: 6,504,892 (GRCm39)	L111P	probably damaging	Het
Or8k30	T	C	2: 86,339,367 (GRCm39)	L188P	possibly damaging	Het
Ovol1	T	C	19: 5,601,635 (GRCm39)	H129R	probably benign	Het
Pigv	T	C	4: 133,392,841 (GRCm39)	S110G	probably benign	Het
Pole	T	A	5: 110,441,619 (GRCm39)	F253L	probably benign	Het
Samd3	T	C	10: 26,139,740 (GRCm39)	Y291H	probably benign	Het
Slc4a4	T	A	5: 89,304,372 (GRCm39)	I605N	probably damaging	Het
Sult1a1	T	A	7: 126,274,489 (GRCm39)	Y58F	probably damaging	Het
Tfrc	T	A	16: 32,439,223 (GRCm39)	D362E	probably benign	Het
Thnsl2	T	C	6: 71,108,930 (GRCm39)	T294A	probably benign	Het
Tnfsf10	G	A	3: 27,380,106 (GRCm39)	G57R	possibly damaging	Het
Vps25	A	T	11: 101,147,723 (GRCm39)	N73I	probably benign	Het
Wdfy1	G	A	1: 79,684,035 (GRCm39)	H367Y	probably damaging	Het
Zfp568	T	C	7: 29,722,189 (GRCm39)	L378P	probably damaging	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
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
R7144:Il16	UTSW	7	83,295,659 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2016-08-02