Mutagenetix > Incidental Mutation

Incidental Mutation 'R7814:Il16'

601361

Institutional Source

Beutler Lab

Gene Symbol

Il16

Ensembl Gene

ENSMUSG00000001741

Gene Name

interleukin 16

Synonyms

MMRRC Submission

045869-MU

Accession Numbers

Essential gene?

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

Stock #

R7814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83292033-83394934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83319348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 381 (V381A)

Ref Sequence

ENSEMBL: ENSMUSP00000001792 (fasta)

Gene Model

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

AlphaFold

O54824

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001792
AA Change: V381A

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000001792
Gene: ENSMUSG00000001741
AA Change: V381A

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: ENSMUST00000153560

SMART Domains

Protein: ENSMUSP00000118516
Gene: ENSMUSG00000001741

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (90/90)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	C	T	4: 124,744,395 (GRCm39)	G20R	not run	Het
Adamts13	A	T	2: 26,886,561 (GRCm39)	M927L	probably benign	Het
Akap6	T	A	12: 53,187,744 (GRCm39)	N1719K	probably benign	Het
Ank3	G	A	10: 69,822,734 (GRCm39)	V468M		Het
Aox1	A	G	1: 58,124,626 (GRCm39)	T956A	probably benign	Het
Ap4m1	T	C	5: 138,173,079 (GRCm39)	V140A	probably benign	Het
Apc	A	G	18: 34,405,592 (GRCm39)	T173A	probably damaging	Het
Bclaf1	A	G	10: 20,210,365 (GRCm39)	T839A	possibly damaging	Het
Btn2a2	T	A	13: 23,666,976 (GRCm39)	I210F	possibly damaging	Het
Cadps	A	G	14: 12,376,706 (GRCm38)	W1269R	probably damaging	Het
Capn2	G	C	1: 182,319,711 (GRCm39)	P159R	probably damaging	Het
Cblif	C	A	19: 11,727,551 (GRCm39)	P125Q	probably benign	Het
Ccdc134	T	G	15: 82,015,724 (GRCm39)	V68G	probably damaging	Het
Cdh26	A	G	2: 178,111,828 (GRCm39)	T463A	probably damaging	Het
Cfap206	C	T	4: 34,716,347 (GRCm39)	V373I	probably benign	Het
Clpx	T	C	9: 65,231,583 (GRCm39)		probably null	Het
Ctnnd2	A	T	15: 31,020,874 (GRCm39)	Y1145F	probably benign	Het
Ctr9	T	A	7: 110,633,134 (GRCm39)	D127E	probably benign	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cyp7b1	G	A	3: 18,151,466 (GRCm39)	S249L	probably benign	Het
D630023F18Rik	T	A	1: 65,155,850 (GRCm39)	D125V	possibly damaging	Het
Dbh	A	T	2: 27,064,860 (GRCm39)	Y357F	probably damaging	Het
Dbp	T	A	7: 45,356,414 (GRCm39)	L175Q	probably benign	Het
Dmwd	A	T	7: 18,814,768 (GRCm39)	T473S	probably benign	Het
Dnah9	T	A	11: 65,896,486 (GRCm39)	Q2446L	probably damaging	Het
Dnmbp	T	C	19: 43,842,615 (GRCm39)	K498R	probably benign	Het
Dop1b	T	A	16: 93,596,859 (GRCm39)	I1924N	probably damaging	Het
Dsg1a	T	A	18: 20,471,572 (GRCm39)		probably null	Het
Dzank1	T	C	2: 144,364,484 (GRCm39)	T38A	probably damaging	Het
Egfem1	A	G	3: 29,740,940 (GRCm39)	H538R	probably damaging	Het
Entpd1	T	C	19: 40,715,891 (GRCm39)	C353R	probably damaging	Het
Ephx2	C	A	14: 66,347,678 (GRCm39)	C78F	probably benign	Het
Faf2	A	T	13: 54,808,774 (GRCm39)	H388L	probably benign	Het
Fam186a	G	A	15: 99,842,545 (GRCm39)	T1233I	possibly damaging	Het
Gfra2	C	A	14: 71,133,410 (GRCm39)	A80E	probably damaging	Het
Gm17175	T	A	14: 51,811,492 (GRCm39)		probably benign	Het
Gm8180	T	C	14: 44,021,103 (GRCm39)	D35G	possibly damaging	Het
Gpr68	C	T	12: 100,845,302 (GRCm39)	V81M	probably damaging	Het
Hsd3b6	A	G	3: 98,718,259 (GRCm39)	L35P	probably damaging	Het
Hspd1	A	C	1: 55,117,803 (GRCm39)	V485G	possibly damaging	Het
Il17rd	G	A	14: 26,822,074 (GRCm39)	C600Y	probably benign	Het
Ins2	C	A	7: 142,233,323 (GRCm39)		probably benign	Het
Iqca1l	G	T	5: 24,750,420 (GRCm39)	Q626K	possibly damaging	Het
Itsn2	T	C	12: 4,708,561 (GRCm39)	I872T	probably benign	Het
Jakmip3	A	T	7: 138,620,858 (GRCm39)	D219V	probably damaging	Het
Jph4	T	C	14: 55,347,192 (GRCm39)	T452A	probably damaging	Het
Kazn	T	C	4: 141,937,481 (GRCm39)	E12G	unknown	Het
Kif20b	A	C	19: 34,928,355 (GRCm39)	S1206R	possibly damaging	Het
Lca5l	A	G	16: 95,963,757 (GRCm39)		probably null	Het
Lgals2	A	T	15: 78,735,533 (GRCm39)	S60R	probably benign	Het
Lrrc37	T	A	11: 103,504,999 (GRCm39)	H2323L	possibly damaging	Het
Map10	A	G	8: 126,398,350 (GRCm39)	E581G	probably benign	Het
Map2k7	G	T	8: 4,293,744 (GRCm39)	R128L	probably benign	Het
Mapk8	G	C	14: 33,132,834 (GRCm39)	S34*	probably null	Het
Mcat	A	G	15: 83,432,110 (GRCm39)	Y253H	probably damaging	Het
Mmp2	T	C	8: 93,576,798 (GRCm39)	L607P	probably benign	Het
Ncor1	A	T	11: 62,224,752 (GRCm39)	V836E	probably damaging	Het
Neb	A	G	2: 52,027,392 (GRCm39)	S7113P	probably damaging	Het
Nphp4	T	C	4: 152,608,729 (GRCm39)	F446L	possibly damaging	Het
Nphp4	G	T	4: 152,628,860 (GRCm39)	D749Y	probably damaging	Het
Or14j4	T	A	17: 37,921,547 (GRCm39)	T32S	probably benign	Het
Or1j10	T	C	2: 36,266,821 (GRCm39)	I11T	possibly damaging	Het
Or4c99	A	G	2: 88,329,416 (GRCm39)		probably benign	Het
Or5k8	T	C	16: 58,644,365 (GRCm39)	K236E	probably damaging	Het
Osbpl11	A	T	16: 33,030,431 (GRCm39)	R220*	probably null	Het
Plrg1	G	A	3: 82,964,144 (GRCm39)	V26M	probably damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Ppfia3	A	C	7: 45,001,686 (GRCm39)	S560A	probably benign	Het
Ppp3cc	T	A	14: 70,462,464 (GRCm39)	N391I	possibly damaging	Het
Prdx6b	T	C	2: 80,123,304 (GRCm39)	S38P	possibly damaging	Het
Psg23	A	T	7: 18,340,839 (GRCm39)	*472R	probably null	Het
Rapgef4	A	T	2: 72,053,461 (GRCm39)	M587L	probably benign	Het
Rfx3	T	A	19: 27,803,470 (GRCm39)	M247L	probably benign	Het
Rgs7	T	A	1: 174,903,635 (GRCm39)	H463L	probably benign	Het
Riiad1	G	T	3: 94,373,162 (GRCm39)	S106R	probably benign	Het
Rims4	A	C	2: 163,760,548 (GRCm39)	I19S	probably benign	Het
Ros1	A	T	10: 51,972,233 (GRCm39)	M1648K	probably benign	Het
Rrn3	T	C	16: 13,629,453 (GRCm39)	F590L	probably benign	Het
Samd9l	T	A	6: 3,374,793 (GRCm39)	T823S	possibly damaging	Het
Sfxn1	C	A	13: 54,245,250 (GRCm39)	P115Q	possibly damaging	Het
Slc10a7	T	C	8: 79,425,202 (GRCm39)		probably null	Het
Slc25a16	A	T	10: 62,773,199 (GRCm39)	M142L	probably benign	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,126,597 (GRCm39)		probably benign	Het
Stat5a	T	G	11: 100,765,853 (GRCm39)	L313R	probably damaging	Het
Strap	A	G	6: 137,718,976 (GRCm39)	E176G	possibly damaging	Het
Tlr4	T	G	4: 66,759,316 (GRCm39)	L703R	probably damaging	Het
Trim36	A	T	18: 46,300,691 (GRCm39)	V660D	possibly damaging	Het
Tspoap1	T	A	11: 87,666,350 (GRCm39)	D980E	probably damaging	Het
Usp28	T	C	9: 48,915,218 (GRCm39)	V157A	probably benign	Het
Vmn2r17	A	T	5: 109,575,739 (GRCm39)	R203S	probably benign	Het
Vmn2r66	T	C	7: 84,656,472 (GRCm39)	I181M	probably benign	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp442	C	T	2: 150,251,402 (GRCm39)	D167N	possibly 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
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
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
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'- ACATGGCAGCTGTTGATGTG -3'
(R):5'- TCATTTGGTCCCCAAGTGG -3'

Sequencing Primer
(F):5'- GCAGCTGTTGATGTGTAACAGAATC -3'
(R):5'- CTGGAATGAATGTTGTGTCCAAGAC -3'

Posted On

2019-11-26