Incidental Mutation 'R6543:Il6ra'
| ID |
520908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il6ra
|
| Ensembl Gene |
ENSMUSG00000027947 |
| Gene Name |
interleukin 6 receptor, alpha |
| Synonyms |
CD126, IL-6 receptor alpha chain, IL-6R, Il6r |
| MMRRC Submission |
044669-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6543 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89776631-89820503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89784170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 367
(V367A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029559]
[ENSMUST00000197679]
|
| AlphaFold |
P22272 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029559
AA Change: V368A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029559
Gene: ENSMUSG00000027947
AA Change: V368A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
IGc2
|
38 |
99 |
1.35e-9 |
SMART |
|
Pfam:IL6Ra-bind
|
109 |
210 |
2.9e-21 |
PFAM |
|
FN3
|
213 |
298 |
2.18e-2 |
SMART |
|
transmembrane domain
|
363 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
417 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197679
AA Change: V367A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143541
Gene: ENSMUSG00000027947
AA Change: V367A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGc2
|
38 |
99 |
5.7e-12 |
SMART |
|
Pfam:IL6Ra-bind
|
109 |
210 |
6.8e-19 |
PFAM |
|
FN3
|
213 |
298 |
1.1e-4 |
SMART |
|
transmembrane domain
|
362 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
416 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2228 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit defective T helper 17 cells development. Mice homozygous for a different knock-out allele exhibit abnormaly inflammatory response and abnormal wound healing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4e1 |
T |
C |
2: 126,908,525 (GRCm39) |
V1091A |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,640,715 (GRCm39) |
N1320D |
probably benign |
Het |
| Atl3 |
T |
A |
19: 7,487,463 (GRCm39) |
F126Y |
probably damaging |
Het |
| Borcs5 |
C |
T |
6: 134,687,143 (GRCm39) |
T167M |
probably damaging |
Het |
| Cplane2 |
T |
G |
4: 140,944,599 (GRCm39) |
V50G |
probably benign |
Het |
| Creld2 |
A |
G |
15: 88,709,481 (GRCm39) |
T331A |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,911,497 (GRCm39) |
V494A |
probably damaging |
Het |
| Dclk1 |
C |
T |
3: 55,407,552 (GRCm39) |
P244S |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,220,825 (GRCm39) |
N126S |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,197,493 (GRCm39) |
S629P |
unknown |
Het |
| Grip1 |
T |
C |
10: 119,821,499 (GRCm39) |
L389P |
probably benign |
Het |
| Igkv4-91 |
A |
T |
6: 68,745,582 (GRCm39) |
D105E |
probably damaging |
Het |
| Il20ra |
G |
A |
10: 19,625,071 (GRCm39) |
A117T |
probably damaging |
Het |
| Itga8 |
C |
T |
2: 12,306,455 (GRCm39) |
V47M |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,300,682 (GRCm39) |
Y220C |
probably damaging |
Het |
| Lims1 |
T |
A |
10: 58,248,273 (GRCm39) |
C243* |
probably null |
Het |
| Man1a |
C |
A |
10: 53,811,077 (GRCm39) |
G435* |
probably null |
Het |
| Msantd5f4 |
A |
G |
4: 73,557,215 (GRCm39) |
E16G |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,053 (GRCm39) |
I2250N |
probably damaging |
Het |
| N4bp1 |
G |
A |
8: 87,588,534 (GRCm39) |
Q135* |
probably null |
Het |
| Nbeal2 |
A |
T |
9: 110,473,526 (GRCm39) |
D76E |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,986,605 (GRCm39) |
S669P |
probably benign |
Het |
| Nfrkb |
C |
T |
9: 31,312,281 (GRCm39) |
Q456* |
probably null |
Het |
| Or6c3b |
C |
A |
10: 129,527,859 (GRCm39) |
G17V |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,715,275 (GRCm39) |
A1557T |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Prokr2 |
T |
A |
2: 132,215,819 (GRCm39) |
Q53L |
probably benign |
Het |
| Pxmp4 |
C |
A |
2: 154,429,979 (GRCm39) |
A137S |
possibly damaging |
Het |
| Rasef |
C |
T |
4: 73,698,756 (GRCm39) |
|
probably benign |
Het |
| Scpppq1 |
T |
C |
5: 104,222,741 (GRCm39) |
|
probably benign |
Het |
| Scrt2 |
C |
T |
2: 151,935,063 (GRCm39) |
A72V |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,177,101 (GRCm39) |
E1171G |
possibly damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,375 (GRCm39) |
T923A |
possibly damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,078,872 (GRCm39) |
K141R |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,849,492 (GRCm39) |
|
probably null |
Het |
| Sympk |
A |
T |
7: 18,770,755 (GRCm39) |
H282L |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,751,677 (GRCm39) |
Y1324C |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,577,600 (GRCm39) |
N170S |
possibly damaging |
Het |
| Trav6-3 |
T |
C |
14: 53,666,219 (GRCm39) |
M1T |
probably null |
Het |
| Trim66 |
A |
G |
7: 109,075,086 (GRCm39) |
S392P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,599,155 (GRCm39) |
T10958A |
probably damaging |
Het |
| Ubr7 |
A |
G |
12: 102,734,494 (GRCm39) |
K256R |
probably benign |
Het |
|
| Other mutations in Il6ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01531:Il6ra
|
APN |
3 |
89,793,350 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02198:Il6ra
|
APN |
3 |
89,797,655 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02363:Il6ra
|
APN |
3 |
89,778,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03109:Il6ra
|
APN |
3 |
89,784,165 (GRCm39) |
nonsense |
probably null |
|
|
R0105:Il6ra
|
UTSW |
3 |
89,784,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0569:Il6ra
|
UTSW |
3 |
89,785,149 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0926:Il6ra
|
UTSW |
3 |
89,794,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1837:Il6ra
|
UTSW |
3 |
89,797,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1838:Il6ra
|
UTSW |
3 |
89,797,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3147:Il6ra
|
UTSW |
3 |
89,793,235 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4478:Il6ra
|
UTSW |
3 |
89,797,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5470:Il6ra
|
UTSW |
3 |
89,793,302 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5572:Il6ra
|
UTSW |
3 |
89,778,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6169:Il6ra
|
UTSW |
3 |
89,778,598 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6300:Il6ra
|
UTSW |
3 |
89,794,436 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7129:Il6ra
|
UTSW |
3 |
89,778,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8023:Il6ra
|
UTSW |
3 |
89,820,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8682:Il6ra
|
UTSW |
3 |
89,793,976 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8997:Il6ra
|
UTSW |
3 |
89,794,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9697:Il6ra
|
UTSW |
3 |
89,785,219 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCCAGGACTCAGCATGTTAC -3'
(R):5'- AATGGTGCAGTCTCCCTCAG -3'
Sequencing Primer
(F):5'- CAGGACTCAGCATGTTACATGTTC -3'
(R):5'- GTGCAGTGCCTCTTCAGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation