Incidental Mutation 'R3696:Il6st'
| ID |
269834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il6st
|
| Ensembl Gene |
ENSMUSG00000021756 |
| Gene Name |
interleukin 6 signal transducer |
| Synonyms |
5133400A03Rik, CD130, gp130, D13Ertd699e |
| MMRRC Submission |
040690-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3696 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
112600604-112643394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 112640916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 897
(D897E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070731]
[ENSMUST00000183513]
[ENSMUST00000183663]
[ENSMUST00000183829]
[ENSMUST00000184276]
[ENSMUST00000184311]
[ENSMUST00000184445]
[ENSMUST00000184949]
|
| AlphaFold |
Q00560 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070731
AA Change: D897E
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000064205
Gene: ENSMUSG00000021756
AA Change: D897E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Lep_receptor_Ig
|
26 |
112 |
1.4e-30 |
PFAM |
|
FN3
|
126 |
205 |
1.15e1 |
SMART |
|
FN3
|
220 |
306 |
7.23e-8 |
SMART |
|
FN3
|
324 |
407 |
1.07e1 |
SMART |
|
FN3
|
422 |
503 |
6.1e0 |
SMART |
|
FN3
|
517 |
600 |
4.81e-4 |
SMART |
|
transmembrane domain
|
618 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183513
|
| SMART Domains |
Protein: ENSMUSP00000139016
Gene: ENSMUSG00000021756
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183663
AA Change: D897E
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138836
Gene: ENSMUSG00000021756
AA Change: D897E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Lep_receptor_Ig
|
24 |
114 |
1.2e-32 |
PFAM |
|
FN3
|
126 |
205 |
1.15e1 |
SMART |
|
FN3
|
220 |
306 |
7.23e-8 |
SMART |
|
FN3
|
324 |
407 |
1.07e1 |
SMART |
|
FN3
|
422 |
503 |
6.1e0 |
SMART |
|
FN3
|
517 |
600 |
4.81e-4 |
SMART |
|
transmembrane domain
|
618 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183829
|
| SMART Domains |
Protein: ENSMUSP00000138987
Gene: ENSMUSG00000021756
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
PDB:1I1R|A
|
23 |
52 |
7e-8 |
PDB |
|
FN3
|
56 |
142 |
7.23e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184276
|
| SMART Domains |
Protein: ENSMUSP00000139060
Gene: ENSMUSG00000021756
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Lep_receptor_Ig
|
24 |
114 |
2.3e-33 |
PFAM |
|
FN3
|
126 |
205 |
1.15e1 |
SMART |
|
FN3
|
220 |
306 |
7.23e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184311
AA Change: D897E
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139227
Gene: ENSMUSG00000021756
AA Change: D897E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Lep_receptor_Ig
|
24 |
114 |
1.2e-32 |
PFAM |
|
FN3
|
126 |
205 |
1.15e1 |
SMART |
|
FN3
|
220 |
306 |
7.23e-8 |
SMART |
|
FN3
|
324 |
407 |
1.07e1 |
SMART |
|
FN3
|
422 |
503 |
6.1e0 |
SMART |
|
FN3
|
517 |
600 |
4.81e-4 |
SMART |
|
transmembrane domain
|
618 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184445
|
| SMART Domains |
Protein: ENSMUSP00000139311
Gene: ENSMUSG00000021756
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Lep_receptor_Ig
|
24 |
114 |
2e-33 |
PFAM |
|
FN3
|
126 |
205 |
1.15e1 |
SMART |
|
FN3
|
220 |
306 |
7.23e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184949
AA Change: D836E
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138915
Gene: ENSMUSG00000021756
AA Change: D836E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Lep_receptor_Ig
|
24 |
114 |
9.4e-33 |
PFAM |
|
FN3
|
126 |
205 |
1.15e1 |
SMART |
|
FN3
|
220 |
306 |
7.23e-8 |
SMART |
|
FN3
|
324 |
442 |
6.97e0 |
SMART |
|
FN3
|
456 |
539 |
4.81e-4 |
SMART |
|
transmembrane domain
|
557 |
579 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
692 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0639 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (37/37) |
| 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 signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygotes for targeted null mutations show myocardial and hematological defects and die between embryonic day 12.5 and term. Conditional mutants show female infertility and neurological, cardiac, hematopoietic, immunological, hepatic, and lung defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Anapc4 |
A |
G |
5: 53,019,351 (GRCm39) |
S562G |
probably null |
Het |
| Arfgef2 |
T |
A |
2: 166,695,220 (GRCm39) |
L531* |
probably null |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,033,552 (GRCm39) |
M1010V |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,527,724 (GRCm39) |
E126G |
probably damaging |
Het |
| Ckap5 |
C |
A |
2: 91,450,511 (GRCm39) |
T2014K |
probably benign |
Het |
| Dlat |
C |
T |
9: 50,562,176 (GRCm39) |
V283I |
possibly damaging |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| Ephx1 |
G |
A |
1: 180,817,516 (GRCm39) |
S385L |
probably benign |
Het |
| Ermard |
T |
C |
17: 15,273,638 (GRCm39) |
S408P |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,806,473 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
C |
8: 111,329,911 (GRCm39) |
S4882P |
probably damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Itgb8 |
A |
G |
12: 119,140,746 (GRCm39) |
V377A |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,572,532 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
G |
4: 123,350,155 (GRCm39) |
T2027P |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,235,870 (GRCm39) |
I678L |
possibly damaging |
Het |
| Nfu1 |
A |
G |
6: 86,992,634 (GRCm39) |
T83A |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,360 (GRCm39) |
T103A |
probably benign |
Het |
| Prm3 |
T |
C |
16: 10,608,672 (GRCm39) |
M28V |
possibly damaging |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
A |
T |
11: 87,476,060 (GRCm39) |
T212S |
possibly damaging |
Het |
| Trdn |
T |
A |
10: 33,181,028 (GRCm39) |
|
probably null |
Het |
| Trim2 |
T |
A |
3: 84,098,158 (GRCm39) |
Y390F |
probably benign |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,523 (GRCm39) |
I232F |
possibly damaging |
Het |
| Zfp30 |
A |
T |
7: 29,492,815 (GRCm39) |
K356N |
probably damaging |
Het |
|
| Other mutations in Il6st |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Il6st
|
APN |
13 |
112,617,967 (GRCm39) |
splice site |
probably null |
|
|
IGL00571:Il6st
|
APN |
13 |
112,624,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01151:Il6st
|
APN |
13 |
112,630,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01336:Il6st
|
APN |
13 |
112,616,773 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01501:Il6st
|
APN |
13 |
112,616,593 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01512:Il6st
|
APN |
13 |
112,640,900 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01657:Il6st
|
APN |
13 |
112,618,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01863:Il6st
|
APN |
13 |
112,640,744 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01916:Il6st
|
APN |
13 |
112,616,606 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01978:Il6st
|
APN |
13 |
112,633,891 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02089:Il6st
|
APN |
13 |
112,631,774 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02752:Il6st
|
APN |
13 |
112,616,729 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02988:Il6st
|
UTSW |
13 |
112,635,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Il6st
|
UTSW |
13 |
112,637,682 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0550:Il6st
|
UTSW |
13 |
112,611,648 (GRCm39) |
splice site |
probably null |
|
|
R0606:Il6st
|
UTSW |
13 |
112,640,806 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1126:Il6st
|
UTSW |
13 |
112,640,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Il6st
|
UTSW |
13 |
112,617,998 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1581:Il6st
|
UTSW |
13 |
112,618,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1632:Il6st
|
UTSW |
13 |
112,640,866 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1881:Il6st
|
UTSW |
13 |
112,640,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Il6st
|
UTSW |
13 |
112,635,423 (GRCm39) |
missense |
probably null |
0.94 |
|
R2043:Il6st
|
UTSW |
13 |
112,616,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2128:Il6st
|
UTSW |
13 |
112,640,709 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2137:Il6st
|
UTSW |
13 |
112,639,392 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3433:Il6st
|
UTSW |
13 |
112,640,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3697:Il6st
|
UTSW |
13 |
112,640,916 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3698:Il6st
|
UTSW |
13 |
112,640,916 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4172:Il6st
|
UTSW |
13 |
112,631,861 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4543:Il6st
|
UTSW |
13 |
112,617,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4641:Il6st
|
UTSW |
13 |
112,625,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Il6st
|
UTSW |
13 |
112,627,044 (GRCm39) |
nonsense |
probably null |
|
|
R4899:Il6st
|
UTSW |
13 |
112,637,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4922:Il6st
|
UTSW |
13 |
112,639,399 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5088:Il6st
|
UTSW |
13 |
112,627,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Il6st
|
UTSW |
13 |
112,625,182 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5853:Il6st
|
UTSW |
13 |
112,618,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6602:Il6st
|
UTSW |
13 |
112,640,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Il6st
|
UTSW |
13 |
112,640,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Il6st
|
UTSW |
13 |
112,631,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7192:Il6st
|
UTSW |
13 |
112,631,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7273:Il6st
|
UTSW |
13 |
112,631,832 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7330:Il6st
|
UTSW |
13 |
112,630,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7427:Il6st
|
UTSW |
13 |
112,625,094 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7770:Il6st
|
UTSW |
13 |
112,639,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8086:Il6st
|
UTSW |
13 |
112,631,094 (GRCm39) |
splice site |
probably null |
|
|
R8307:Il6st
|
UTSW |
13 |
112,624,281 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8831:Il6st
|
UTSW |
13 |
112,640,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Il6st
|
UTSW |
13 |
112,611,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9189:Il6st
|
UTSW |
13 |
112,635,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9316:Il6st
|
UTSW |
13 |
112,639,349 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9409:Il6st
|
UTSW |
13 |
112,640,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9763:Il6st
|
UTSW |
13 |
112,627,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
U24488:Il6st
|
UTSW |
13 |
112,631,168 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1176:Il6st
|
UTSW |
13 |
112,630,152 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTTTTGTCCGGCAATGAG -3'
(R):5'- AGCTACTCTGGAATGGAGACGG -3'
Sequencing Primer
(F):5'- CAATGAGGAGGATTTTGTCAGACTG -3'
(R):5'- GCCCAGGTGTGACTTTGTCC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation