Incidental Mutation 'R4162:Il18'
ID |
321570 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il18
|
Ensembl Gene |
ENSMUSG00000039217 |
Gene Name |
interleukin 18 |
Synonyms |
Il-18, Igif |
MMRRC Submission |
041005-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4162 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
50466127-50493140 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50490712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 116
(S116P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059081]
[ENSMUST00000180021]
[ENSMUST00000213916]
[ENSMUST00000214117]
|
AlphaFold |
P70380 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059081
AA Change: S116P
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000054591 Gene: ENSMUSG00000039217 AA Change: S116P
Domain | Start | End | E-Value | Type |
IL1
|
49 |
187 |
7.09e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000180021
AA Change: S116P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000137193 Gene: ENSMUSG00000039217 AA Change: S116P
Domain | Start | End | E-Value | Type |
IL1
|
49 |
187 |
7.09e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213916
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214117
AA Change: S116P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Meta Mutation Damage Score |
0.4663 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
Validation Efficiency |
93% (38/41) |
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 proinflammatory cytokine that augments natural killer cell activity in spleen cells, and stimulates interferon gamma production in T-helper type I cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011] PHENOTYPE: Mice homozygous for null alleles are deficient in producing IFN-gamma in response to infectious agents and have other impairments of the immune system. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l2 |
T |
A |
10: 83,342,518 (GRCm39) |
I431F |
possibly damaging |
Het |
Atrn |
A |
G |
2: 130,836,148 (GRCm39) |
|
probably benign |
Het |
Cep57 |
C |
T |
9: 13,723,929 (GRCm39) |
|
probably null |
Het |
Cgas |
G |
A |
9: 78,341,686 (GRCm39) |
R364C |
probably damaging |
Het |
Cybc1 |
T |
C |
11: 121,115,492 (GRCm39) |
D109G |
probably damaging |
Het |
Defb41 |
C |
T |
1: 18,330,821 (GRCm39) |
C42Y |
probably damaging |
Het |
Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
Gli3 |
G |
T |
13: 15,899,700 (GRCm39) |
S1029I |
possibly damaging |
Het |
Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,867,202 (GRCm39) |
|
probably benign |
Het |
Grin2d |
T |
C |
7: 45,507,042 (GRCm39) |
K478E |
probably damaging |
Het |
Itsn1 |
C |
A |
16: 91,649,790 (GRCm39) |
P155T |
probably benign |
Het |
Kdm5b |
C |
T |
1: 134,552,899 (GRCm39) |
P1292S |
probably benign |
Het |
Mef2b |
T |
C |
8: 70,618,961 (GRCm39) |
F181S |
probably damaging |
Het |
Mfn1 |
T |
C |
3: 32,617,147 (GRCm39) |
|
probably benign |
Het |
Mfsd12 |
A |
G |
10: 81,196,931 (GRCm39) |
|
probably null |
Het |
Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
Nrxn2 |
G |
A |
19: 6,582,173 (GRCm39) |
V660I |
probably damaging |
Het |
Nsun4 |
G |
T |
4: 115,891,391 (GRCm39) |
Y329* |
probably null |
Het |
Pank4 |
T |
C |
4: 155,064,051 (GRCm39) |
|
probably null |
Het |
Plcb2 |
T |
A |
2: 118,540,068 (GRCm39) |
E1075V |
probably damaging |
Het |
Prep |
G |
T |
10: 44,943,458 (GRCm39) |
R11L |
possibly damaging |
Het |
Prkcd |
A |
G |
14: 30,323,154 (GRCm39) |
F461L |
probably damaging |
Het |
Saxo5 |
C |
T |
8: 3,529,067 (GRCm39) |
P214L |
probably damaging |
Het |
Snx21 |
T |
C |
2: 164,628,770 (GRCm39) |
Y138H |
probably damaging |
Het |
Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
Tex15 |
T |
C |
8: 34,071,586 (GRCm39) |
S2378P |
probably damaging |
Het |
Thap12 |
C |
T |
7: 98,359,285 (GRCm39) |
|
probably benign |
Het |
Trav3-1 |
T |
C |
14: 52,818,496 (GRCm39) |
Y57H |
probably damaging |
Het |
Ttc39c |
A |
G |
18: 12,857,994 (GRCm39) |
|
probably null |
Het |
Tubgcp3 |
C |
T |
8: 12,689,547 (GRCm39) |
R573Q |
possibly damaging |
Het |
Ush2a |
A |
C |
1: 188,475,877 (GRCm39) |
K2938T |
probably benign |
Het |
Vasp |
A |
T |
7: 18,993,397 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
C |
A |
8: 109,683,619 (GRCm39) |
T3686K |
unknown |
Het |
|
Other mutations in Il18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01095:Il18
|
APN |
9 |
50,490,629 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02258:Il18
|
APN |
9 |
50,488,003 (GRCm39) |
missense |
probably benign |
0.00 |
R0091:Il18
|
UTSW |
9 |
50,488,013 (GRCm39) |
splice site |
probably benign |
|
R0355:Il18
|
UTSW |
9 |
50,490,575 (GRCm39) |
splice site |
probably benign |
|
R0504:Il18
|
UTSW |
9 |
50,486,628 (GRCm39) |
missense |
probably damaging |
0.99 |
R2295:Il18
|
UTSW |
9 |
50,490,635 (GRCm39) |
missense |
probably benign |
0.33 |
R5117:Il18
|
UTSW |
9 |
50,492,809 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5160:Il18
|
UTSW |
9 |
50,489,193 (GRCm39) |
critical splice donor site |
probably null |
|
R7361:Il18
|
UTSW |
9 |
50,490,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R7462:Il18
|
UTSW |
9 |
50,476,673 (GRCm39) |
unclassified |
probably benign |
|
R7522:Il18
|
UTSW |
9 |
50,486,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R7654:Il18
|
UTSW |
9 |
50,490,701 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8220:Il18
|
UTSW |
9 |
50,486,616 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8319:Il18
|
UTSW |
9 |
50,492,818 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8720:Il18
|
UTSW |
9 |
50,476,684 (GRCm39) |
unclassified |
probably benign |
|
R8988:Il18
|
UTSW |
9 |
50,489,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R9052:Il18
|
UTSW |
9 |
50,489,090 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9585:Il18
|
UTSW |
9 |
50,490,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGCAGAGTAGTGATCGGC -3'
(R):5'- GTATCATCACACTAGACCAAAGGG -3'
Sequencing Primer
(F):5'- CGGCCTATTAAGGTGGATCTAGCC -3'
(R):5'- GACCAAAGGGCTTGATAATTCC -3'
|
Posted On |
2015-06-12 |