Incidental Mutation 'R0032:Il11ra1'
ID |
18625 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il11ra1
|
Ensembl Gene |
ENSMUSG00000073889 |
Gene Name |
interleukin 11 receptor subunit alpha 1 |
Synonyms |
Il-11ra-alpha, Il-11ra, NR1, Il11ra |
MMRRC Submission |
038326-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.796)
|
Stock # |
R0032 (G1)
of strain
731
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
41760443-41769473 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41768187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 366
(E366G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074387]
[ENSMUST00000098132]
[ENSMUST00000108033]
[ENSMUST00000108035]
[ENSMUST00000108036]
[ENSMUST00000108037]
[ENSMUST00000108040]
[ENSMUST00000108042]
[ENSMUST00000108041]
[ENSMUST00000151142]
[ENSMUST00000131349]
[ENSMUST00000155322]
|
AlphaFold |
Q64385 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074387
|
SMART Domains |
Protein: ENSMUSP00000073990 Gene: ENSMUSG00000073888
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
SCY
|
31 |
97 |
5.12e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098132
AA Change: E366G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095736 Gene: ENSMUSG00000073889 AA Change: E366G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
IG
|
33 |
108 |
5.75e-4 |
SMART |
FN3
|
112 |
204 |
2.18e-2 |
SMART |
FN3
|
218 |
304 |
4.93e-1 |
SMART |
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108033
|
SMART Domains |
Protein: ENSMUSP00000103668 Gene: ENSMUSG00000073888
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SCY
|
30 |
96 |
5.12e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108035
|
SMART Domains |
Protein: ENSMUSP00000103670 Gene: ENSMUSG00000073888
Domain | Start | End | E-Value | Type |
SCY
|
38 |
104 |
5.12e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108036
|
SMART Domains |
Protein: ENSMUSP00000103671 Gene: ENSMUSG00000073888
Domain | Start | End | E-Value | Type |
SCY
|
75 |
141 |
5.12e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108037
|
SMART Domains |
Protein: ENSMUSP00000103672 Gene: ENSMUSG00000073888
Domain | Start | End | E-Value | Type |
SCY
|
75 |
141 |
5.12e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108040
AA Change: E366G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103675 Gene: ENSMUSG00000073889 AA Change: E366G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
IG
|
33 |
108 |
5.75e-4 |
SMART |
FN3
|
112 |
204 |
2.18e-2 |
SMART |
FN3
|
218 |
304 |
4.93e-1 |
SMART |
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108042
AA Change: E366G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103677 Gene: ENSMUSG00000073889 AA Change: E366G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
IG
|
33 |
108 |
5.75e-4 |
SMART |
FN3
|
112 |
204 |
2.18e-2 |
SMART |
FN3
|
218 |
304 |
4.93e-1 |
SMART |
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108041
AA Change: E366G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103676 Gene: ENSMUSG00000073889 AA Change: E366G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
IG
|
33 |
108 |
5.75e-4 |
SMART |
FN3
|
112 |
204 |
2.18e-2 |
SMART |
FN3
|
218 |
304 |
4.93e-1 |
SMART |
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133572
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138337
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151142
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136768
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146608
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142059
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151909
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145445
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131349
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144090
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152748
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155538
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155322
|
Meta Mutation Damage Score |
0.2671 |
Coding Region Coverage |
- 1x: 80.9%
- 3x: 73.4%
- 10x: 52.4%
- 20x: 32.5%
|
Validation Efficiency |
94% (87/93) |
MGI Phenotype |
PHENOTYPE: Female homozygotes for targeted null mutations are infertile due to defective decidua formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
T |
A |
10: 106,959,156 (GRCm39) |
T97S |
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,094,729 (GRCm39) |
S552P |
possibly damaging |
Het |
C2cd3 |
T |
A |
7: 100,093,652 (GRCm39) |
|
probably benign |
Het |
Cd86 |
A |
T |
16: 36,441,235 (GRCm39) |
S77R |
probably damaging |
Het |
Cfap54 |
C |
T |
10: 92,768,559 (GRCm39) |
R188H |
probably benign |
Het |
Cpne8 |
T |
A |
15: 90,453,771 (GRCm39) |
|
probably benign |
Het |
Ctsg |
T |
A |
14: 56,339,196 (GRCm39) |
I21F |
probably damaging |
Het |
Cyp2j9 |
T |
G |
4: 96,457,043 (GRCm39) |
N476T |
possibly damaging |
Het |
Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
Dennd4c |
T |
C |
4: 86,746,387 (GRCm39) |
|
probably null |
Het |
Dicer1 |
A |
T |
12: 104,671,057 (GRCm39) |
L995* |
probably null |
Het |
Dnah10 |
A |
G |
5: 124,877,955 (GRCm39) |
K2623R |
possibly damaging |
Het |
Dnajc21 |
G |
T |
15: 10,461,963 (GRCm39) |
T146K |
probably benign |
Het |
Dnmbp |
A |
C |
19: 43,891,158 (GRCm39) |
L203R |
probably damaging |
Het |
Eif4g1 |
C |
T |
16: 20,504,648 (GRCm39) |
S829F |
probably damaging |
Het |
Enkur |
T |
C |
2: 21,194,115 (GRCm39) |
I153V |
probably benign |
Het |
Erf |
T |
C |
7: 24,944,500 (GRCm39) |
Y277C |
possibly damaging |
Het |
Fcsk |
G |
A |
8: 111,618,735 (GRCm39) |
T341M |
possibly damaging |
Het |
Fstl5 |
T |
A |
3: 76,555,742 (GRCm39) |
|
probably benign |
Het |
Grm3 |
A |
G |
5: 9,561,452 (GRCm39) |
|
probably null |
Het |
Ipo8 |
A |
G |
6: 148,712,209 (GRCm39) |
C261R |
probably damaging |
Het |
Itga11 |
T |
C |
9: 62,681,377 (GRCm39) |
F998L |
probably benign |
Het |
Krt74 |
T |
A |
15: 101,669,887 (GRCm39) |
|
noncoding transcript |
Het |
Me2 |
T |
G |
18: 73,927,596 (GRCm39) |
M219L |
probably benign |
Het |
Mlh3 |
A |
G |
12: 85,292,523 (GRCm39) |
|
probably benign |
Het |
Nfx1 |
T |
A |
4: 41,015,321 (GRCm39) |
V842E |
probably benign |
Het |
Oma1 |
T |
A |
4: 103,223,209 (GRCm39) |
S465T |
possibly damaging |
Het |
Opa1 |
A |
T |
16: 29,433,887 (GRCm39) |
H574L |
probably damaging |
Het |
Pcsk5 |
T |
C |
19: 17,542,179 (GRCm39) |
N804S |
possibly damaging |
Het |
Pde4a |
C |
A |
9: 21,112,728 (GRCm39) |
|
probably benign |
Het |
Pilra |
T |
A |
5: 137,829,527 (GRCm39) |
D179V |
probably damaging |
Het |
Piwil1 |
G |
A |
5: 128,820,344 (GRCm39) |
S247N |
probably benign |
Het |
Prss58 |
T |
G |
6: 40,872,633 (GRCm39) |
T158P |
probably benign |
Het |
Slc35e3 |
T |
C |
10: 117,580,837 (GRCm39) |
M156V |
probably benign |
Het |
Slit2 |
G |
A |
5: 48,414,198 (GRCm39) |
R938Q |
probably damaging |
Het |
Syt8 |
T |
C |
7: 141,992,926 (GRCm39) |
V152A |
probably benign |
Het |
Tppp2 |
G |
T |
14: 52,156,866 (GRCm39) |
R81L |
possibly damaging |
Het |
Trpc3 |
A |
G |
3: 36,698,405 (GRCm39) |
I618T |
probably damaging |
Het |
Zc3h4 |
T |
A |
7: 16,168,565 (GRCm39) |
D891E |
unknown |
Het |
Zfp120 |
A |
T |
2: 149,959,512 (GRCm39) |
V270E |
possibly damaging |
Het |
|
Other mutations in Il11ra1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02681:Il11ra1
|
APN |
4 |
41,768,552 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0013:Il11ra1
|
UTSW |
4 |
41,765,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R0032:Il11ra1
|
UTSW |
4 |
41,768,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R0365:Il11ra1
|
UTSW |
4 |
41,767,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R0399:Il11ra1
|
UTSW |
4 |
41,766,185 (GRCm39) |
missense |
probably benign |
0.03 |
R1585:Il11ra1
|
UTSW |
4 |
41,768,207 (GRCm39) |
missense |
probably damaging |
0.98 |
R1591:Il11ra1
|
UTSW |
4 |
41,766,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R2424:Il11ra1
|
UTSW |
4 |
41,768,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R3037:Il11ra1
|
UTSW |
4 |
41,765,074 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4393:Il11ra1
|
UTSW |
4 |
41,768,577 (GRCm39) |
critical splice donor site |
probably null |
|
R4770:Il11ra1
|
UTSW |
4 |
41,768,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R4798:Il11ra1
|
UTSW |
4 |
41,766,096 (GRCm39) |
unclassified |
probably benign |
|
R5256:Il11ra1
|
UTSW |
4 |
41,767,932 (GRCm39) |
unclassified |
probably benign |
|
R6005:Il11ra1
|
UTSW |
4 |
41,763,887 (GRCm39) |
critical splice donor site |
probably null |
|
R6309:Il11ra1
|
UTSW |
4 |
41,765,279 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6499:Il11ra1
|
UTSW |
4 |
41,765,412 (GRCm39) |
missense |
probably benign |
0.04 |
R6833:Il11ra1
|
UTSW |
4 |
41,765,454 (GRCm39) |
missense |
probably benign |
0.00 |
R6834:Il11ra1
|
UTSW |
4 |
41,765,454 (GRCm39) |
missense |
probably benign |
0.00 |
R7015:Il11ra1
|
UTSW |
4 |
41,765,421 (GRCm39) |
missense |
probably benign |
0.06 |
R7122:Il11ra1
|
UTSW |
4 |
41,766,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R7275:Il11ra1
|
UTSW |
4 |
41,765,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R7710:Il11ra1
|
UTSW |
4 |
41,764,846 (GRCm39) |
missense |
probably benign |
|
R8116:Il11ra1
|
UTSW |
4 |
41,766,251 (GRCm39) |
missense |
probably benign |
0.27 |
R8711:Il11ra1
|
UTSW |
4 |
41,767,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R9508:Il11ra1
|
UTSW |
4 |
41,767,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-03-25 |