Incidental Mutation 'IGL00976:Il6'
| ID |
27530 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il6
|
| Ensembl Gene |
ENSMUSG00000025746 |
| Gene Name |
interleukin 6 |
| Synonyms |
Il-6 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
IGL00976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
30218112-30224973 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30219839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 72
(G72S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026845]
[ENSMUST00000195978]
[ENSMUST00000199183]
[ENSMUST00000199765]
|
| AlphaFold |
P08505 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026845
AA Change: G72S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000026845
Gene: ENSMUSG00000025746
AA Change: G72S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IL6
|
55 |
209 |
2.1e-98 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195978
AA Change: G72S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000143544
Gene: ENSMUSG00000025746
AA Change: G72S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IL6
|
55 |
162 |
5.8e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199183
AA Change: G72S
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000143293
Gene: ENSMUSG00000025746
AA Change: G72S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IL6
|
55 |
175 |
3.9e-48 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199765
AA Change: G55S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000143157
Gene: ENSMUSG00000025746
AA Change: G55S
| Domain | Start | End | E-Value | Type |
|---|
|
IL6
|
38 |
192 |
2.1e-98 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the interleukin family of cytokines that have important functions in immune response, hematopoiesis, inflammation and the acute phase response. The ectopic overexpression of the encoded protein in mice results in excessive plasma cells in circulation, leading to death. Mice lacking the encoded protein exhibit abnormalities in hepatic acute phase response, some immune mechanisms, bone resorption in response to estrogen, liver regeneration and wound healing. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants show impaired immune response to pathogens, decreased T cell numbers and resistance to plasma cell neoplasia. They are defective in wound healing and liver regeneration and show increased emotionality and high bone turnover rate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519F16Rik |
A |
G |
X: 102,226,868 (GRCm39) |
|
probably benign |
Het |
| Aldob |
C |
A |
4: 49,541,220 (GRCm39) |
V151L |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,239,846 (GRCm39) |
M298I |
probably benign |
Het |
| Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,785,932 (GRCm39) |
T701M |
probably damaging |
Het |
| Ccdc190 |
A |
T |
1: 169,761,309 (GRCm39) |
H137L |
probably benign |
Het |
| Clhc1 |
G |
A |
11: 29,511,389 (GRCm39) |
D278N |
probably benign |
Het |
| Cntnap3 |
T |
C |
13: 64,942,166 (GRCm39) |
Y188C |
probably damaging |
Het |
| Dnah1 |
A |
C |
14: 31,000,095 (GRCm39) |
V2466G |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,070,684 (GRCm39) |
T4457A |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,487,169 (GRCm39) |
Q3388R |
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,493,557 (GRCm39) |
D316V |
probably damaging |
Het |
| Il1rap |
T |
C |
16: 26,517,589 (GRCm39) |
V263A |
probably benign |
Het |
| Katnal2 |
T |
C |
18: 77,105,189 (GRCm39) |
Y86C |
probably damaging |
Het |
| Kdm7a |
G |
T |
6: 39,121,332 (GRCm39) |
S874R |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,171,741 (GRCm39) |
|
probably null |
Het |
| Nphs1 |
T |
G |
7: 30,160,110 (GRCm39) |
S130A |
possibly damaging |
Het |
| Ntrk3 |
C |
T |
7: 78,100,701 (GRCm39) |
V444I |
probably benign |
Het |
| Numbl |
T |
C |
7: 26,968,235 (GRCm39) |
V144A |
possibly damaging |
Het |
| Or8g33 |
T |
A |
9: 39,337,953 (GRCm39) |
Y138F |
probably benign |
Het |
| P2rx1 |
T |
C |
11: 72,903,826 (GRCm39) |
|
probably null |
Het |
| Pcdhb3 |
G |
A |
18: 37,436,001 (GRCm39) |
V656I |
probably benign |
Het |
| Pole |
A |
G |
5: 110,471,438 (GRCm39) |
Y1394C |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,453,585 (GRCm39) |
M231K |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,184,081 (GRCm39) |
V174A |
possibly damaging |
Het |
| Rhox4f |
T |
C |
X: 36,786,048 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
T |
C |
12: 103,998,787 (GRCm39) |
Y317C |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,821,224 (GRCm39) |
I236N |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,102,657 (GRCm39) |
G32R |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,752,908 (GRCm39) |
|
probably null |
Het |
| Sorcs3 |
A |
T |
19: 48,755,542 (GRCm39) |
N894I |
probably damaging |
Het |
| Stk38l |
A |
G |
6: 146,676,900 (GRCm39) |
E393G |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,736,491 (GRCm39) |
I485T |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,709,876 (GRCm39) |
M1687L |
probably benign |
Het |
| Ttc39c |
T |
C |
18: 12,817,952 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,961,293 (GRCm39) |
E378G |
probably damaging |
Het |
| Vmn2r118 |
T |
A |
17: 55,900,204 (GRCm39) |
N567Y |
probably damaging |
Het |
|
| Other mutations in Il6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Il6
|
APN |
5 |
30,218,487 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01549:Il6
|
APN |
5 |
30,224,469 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1510:Il6
|
UTSW |
5 |
30,223,060 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1721:Il6
|
UTSW |
5 |
30,218,490 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1774:Il6
|
UTSW |
5 |
30,224,433 (GRCm39) |
missense |
probably benign |
|
|
R2018:Il6
|
UTSW |
5 |
30,219,945 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2153:Il6
|
UTSW |
5 |
30,218,502 (GRCm39) |
nonsense |
probably null |
|
|
R2344:Il6
|
UTSW |
5 |
30,219,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3889:Il6
|
UTSW |
5 |
30,223,066 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4743:Il6
|
UTSW |
5 |
30,223,042 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4769:Il6
|
UTSW |
5 |
30,223,076 (GRCm39) |
nonsense |
probably null |
|
|
R4965:Il6
|
UTSW |
5 |
30,218,491 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5024:Il6
|
UTSW |
5 |
30,224,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5817:Il6
|
UTSW |
5 |
30,223,006 (GRCm39) |
missense |
probably benign |
|
|
R5858:Il6
|
UTSW |
5 |
30,218,472 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6886:Il6
|
UTSW |
5 |
30,223,201 (GRCm39) |
intron |
probably benign |
|
|
R7254:Il6
|
UTSW |
5 |
30,219,906 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2013-04-17 |
Incidental Mutation