Incidental Mutation 'R4743:Il6'
| ID |
358174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il6
|
| Ensembl Gene |
ENSMUSG00000025746 |
| Gene Name |
interleukin 6 |
| Synonyms |
Il-6 |
| MMRRC Submission |
041967-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.365)
|
| Stock # |
R4743 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
30218112-30224973 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30223042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 120
(Y120H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026845]
[ENSMUST00000195978]
[ENSMUST00000199183]
[ENSMUST00000199765]
|
| AlphaFold |
P08505 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026845
AA Change: Y120H
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000026845
Gene: ENSMUSG00000025746
AA Change: Y120H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IL6
|
55 |
209 |
2.1e-98 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195978
AA Change: Y120H
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143544
Gene: ENSMUSG00000025746
AA Change: Y120H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IL6
|
55 |
162 |
5.8e-44 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199183
AA Change: Y120H
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143293
Gene: ENSMUSG00000025746
AA Change: Y120H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IL6
|
55 |
175 |
3.9e-48 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199765
AA Change: Y103H
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143157
Gene: ENSMUSG00000025746
AA Change: Y103H
| Domain | Start | End | E-Value | Type |
|---|
|
IL6
|
38 |
192 |
2.1e-98 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
98% (44/45) |
| 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 |
|---|
| 4933407L21Rik |
A |
G |
1: 85,858,972 (GRCm39) |
|
probably benign |
Het |
| Ahcy |
T |
C |
2: 154,910,888 (GRCm39) |
N27D |
probably damaging |
Het |
| Akap9 |
T |
G |
5: 4,011,013 (GRCm39) |
L572R |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,296,850 (GRCm39) |
S909P |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,744,845 (GRCm39) |
E54G |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,744,255 (GRCm39) |
S1417P |
probably benign |
Het |
| Colgalt2 |
A |
G |
1: 152,276,094 (GRCm39) |
Y69C |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,828,711 (GRCm39) |
E181G |
probably damaging |
Het |
| Dcaf10 |
T |
A |
4: 45,370,409 (GRCm39) |
S326T |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,631,256 (GRCm39) |
E253G |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Epha1 |
G |
T |
6: 42,349,155 (GRCm39) |
T36K |
probably benign |
Het |
| Ewsr1 |
A |
T |
11: 5,033,541 (GRCm39) |
D210E |
unknown |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,991,111 (GRCm39) |
R862* |
probably null |
Het |
| Gbp8 |
T |
C |
5: 105,178,707 (GRCm39) |
K203E |
possibly damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,292,970 (GRCm39) |
L79* |
probably null |
Het |
| Gm8220 |
T |
A |
14: 44,523,152 (GRCm39) |
|
probably benign |
Het |
| Gm9755 |
A |
T |
8: 67,966,929 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnma1 |
T |
C |
14: 23,853,270 (GRCm39) |
T2A |
probably damaging |
Het |
| Mroh9 |
T |
C |
1: 162,852,061 (GRCm39) |
Y876C |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,878,548 (GRCm39) |
Y601C |
probably damaging |
Het |
| Rabgap1l |
G |
T |
1: 160,281,353 (GRCm39) |
Q623K |
probably damaging |
Het |
| Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,080,375 (GRCm39) |
Y109C |
probably damaging |
Het |
| Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,114,927 (GRCm39) |
L386* |
probably null |
Het |
| Slc4a7 |
A |
G |
14: 14,796,073 (GRCm38) |
|
probably null |
Het |
| Slco1c1 |
T |
C |
6: 141,510,242 (GRCm39) |
C582R |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,906,517 (GRCm39) |
N520D |
probably benign |
Het |
| Tbc1d7 |
A |
G |
13: 43,323,325 (GRCm39) |
V22A |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,327,910 (GRCm39) |
V612A |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,483,627 (GRCm39) |
E488G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,146,566 (GRCm39) |
Y439C |
probably damaging |
Het |
| Vwf |
A |
G |
6: 125,661,054 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Il6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00976:Il6
|
APN |
5 |
30,219,839 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACCAGAGGTTCTTTTATTGTTG -3'
(R):5'- AGCAAGGCCTTATAATCAAGAACTG -3'
Sequencing Primer
(F):5'- CCTAGAAAGAACTGACTTCC -3'
(R):5'- CTGTCTGGAAAAAGTGCCGCTAC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation