Incidental Mutation 'R6601:Il16'
| ID |
525263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il16
|
| Ensembl Gene |
ENSMUSG00000001741 |
| Gene Name |
interleukin 16 |
| Synonyms |
|
| MMRRC Submission |
044725-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R6601 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
83292033-83394934 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83371677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 43
(D43G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001792]
[ENSMUST00000131916]
[ENSMUST00000153560]
[ENSMUST00000156553]
|
| AlphaFold |
O54824 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001792
AA Change: D43G
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000001792
Gene: ENSMUSG00000001741
AA Change: D43G
| 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: D43G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118516
Gene: ENSMUSG00000001741
AA Change: D43G
| 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 |
0.0776 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
98% (41/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
G |
1: 58,102,665 (GRCm39) |
L527R |
probably damaging |
Het |
| Ccdc172 |
T |
A |
19: 58,525,723 (GRCm39) |
C194S |
possibly damaging |
Het |
| Ccnb1ip1 |
G |
T |
14: 51,031,121 (GRCm39) |
T64K |
possibly damaging |
Het |
| Ces1b |
T |
C |
8: 93,806,109 (GRCm39) |
E44G |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,543,421 (GRCm39) |
Y317* |
probably null |
Het |
| Csnk1a1 |
T |
C |
18: 61,711,829 (GRCm39) |
F281S |
probably damaging |
Het |
| Ddx28 |
A |
T |
8: 106,737,248 (GRCm39) |
|
probably null |
Het |
| Dtnbp1 |
A |
G |
13: 45,084,721 (GRCm39) |
|
probably null |
Het |
| Eif2s1 |
T |
C |
12: 78,930,126 (GRCm39) |
I258T |
possibly damaging |
Het |
| Elp3 |
T |
C |
14: 65,784,488 (GRCm39) |
*554W |
probably null |
Het |
| Golga1 |
T |
C |
2: 38,910,118 (GRCm39) |
M610V |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,935,906 (GRCm39) |
K156N |
probably benign |
Het |
| Hcls1 |
G |
A |
16: 36,782,748 (GRCm39) |
G428D |
probably benign |
Het |
| Klhl3 |
C |
A |
13: 58,242,930 (GRCm39) |
K91N |
probably damaging |
Het |
| L3mbtl1 |
C |
T |
2: 162,790,095 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,810,544 (GRCm39) |
F805L |
possibly damaging |
Het |
| Lipg |
T |
C |
18: 75,081,275 (GRCm39) |
M269V |
probably benign |
Het |
| Ly75 |
G |
A |
2: 60,148,720 (GRCm39) |
T1203I |
probably benign |
Het |
| Mat1a |
T |
A |
14: 40,827,561 (GRCm39) |
V5E |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,548,866 (GRCm39) |
L5809Q |
probably benign |
Het |
| Naip6 |
G |
A |
13: 100,420,266 (GRCm39) |
R1335C |
probably benign |
Het |
| Ndufaf3 |
T |
C |
9: 108,443,416 (GRCm39) |
H128R |
probably benign |
Het |
| Nphp4 |
A |
T |
4: 152,587,464 (GRCm39) |
|
probably null |
Het |
| Or8u8 |
T |
A |
2: 86,012,309 (GRCm39) |
I49F |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,230,673 (GRCm39) |
V148A |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,747 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
G |
19: 17,488,744 (GRCm39) |
R1025S |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,405 (GRCm39) |
D1295G |
probably benign |
Het |
| Polr1d |
T |
A |
5: 147,015,359 (GRCm39) |
L14* |
probably null |
Het |
| Rab26 |
T |
A |
17: 24,748,595 (GRCm39) |
K270* |
probably null |
Het |
| Rasgef1c |
T |
A |
11: 49,862,246 (GRCm39) |
N378K |
probably damaging |
Het |
| Rpl7a |
T |
C |
2: 26,801,536 (GRCm39) |
V76A |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,377,229 (GRCm39) |
I11F |
possibly damaging |
Het |
| Smarca2 |
C |
A |
19: 26,631,777 (GRCm39) |
Q531K |
probably benign |
Het |
| Styxl1 |
C |
G |
5: 135,784,350 (GRCm39) |
G211A |
probably benign |
Het |
| Taar9 |
T |
C |
10: 23,984,945 (GRCm39) |
Y163C |
probably damaging |
Het |
| Tmem198 |
T |
A |
1: 75,457,017 (GRCm39) |
F48I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,595,073 (GRCm39) |
N12032I |
probably damaging |
Het |
| Ubr7 |
T |
A |
12: 102,727,723 (GRCm39) |
C82S |
probably damaging |
Het |
| Wwtr1 |
T |
C |
3: 57,483,159 (GRCm39) |
E48G |
possibly damaging |
Het |
| Zfp108 |
T |
C |
7: 23,960,819 (GRCm39) |
V470A |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,816,181 (GRCm39) |
Q424K |
possibly damaging |
Het |
| Zscan4-ps1 |
T |
C |
7: 10,802,761 (GRCm39) |
T13A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGCCATACCTTCATGAAG -3'
(R):5'- TGGCAGCTAAATCCAGTTCATC -3'
Sequencing Primer
(F):5'- GAAGAACATCTTCCTGCAGTGCTTG -3'
(R):5'- GCAGCTAAATCCAGTTCATCTGTCAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation