Incidental Mutation 'R0399:Il11ra1'
ID |
38041 |
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 |
038604-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.786)
|
Stock # |
R0399 (G1)
|
Quality Score |
123 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
41760443-41769473 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41766185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 241
(T241S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074387]
[ENSMUST00000098132]
[ENSMUST00000108033]
[ENSMUST00000108035]
[ENSMUST00000108036]
[ENSMUST00000108037]
[ENSMUST00000108040]
[ENSMUST00000108042]
[ENSMUST00000108041]
[ENSMUST00000151142]
[ENSMUST00000155322]
[ENSMUST00000131349]
|
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 benign
Transcript: ENSMUST00000098132
AA Change: T241S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000095736 Gene: ENSMUSG00000073889 AA Change: T241S
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 benign
Transcript: ENSMUST00000108040
AA Change: T241S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000103675 Gene: ENSMUSG00000073889 AA Change: T241S
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: ENSMUST00000108042
AA Change: T241S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000103677 Gene: ENSMUSG00000073889 AA Change: T241S
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: ENSMUST00000108041
AA Change: T241S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000103676 Gene: ENSMUSG00000073889 AA Change: T241S
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: ENSMUST00000146608
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155538
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145445
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152748
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138337
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151142
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155322
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142059
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151909
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140894
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131349
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136768
|
Meta Mutation Damage Score |
0.0762 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
Validation Efficiency |
99% (71/72) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030452D12Rik |
T |
C |
8: 107,231,174 (GRCm39) |
M120T |
unknown |
Het |
Actr1a |
A |
T |
19: 46,373,450 (GRCm39) |
|
probably null |
Het |
Anapc5 |
A |
T |
5: 122,929,816 (GRCm39) |
V555D |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,108,008 (GRCm39) |
|
probably null |
Het |
Arhgap30 |
A |
G |
1: 171,232,384 (GRCm39) |
E343G |
probably damaging |
Het |
Asap2 |
C |
T |
12: 21,267,998 (GRCm39) |
T291I |
possibly damaging |
Het |
Atp5f1a |
T |
A |
18: 77,869,536 (GRCm39) |
Y439* |
probably null |
Het |
Auts2 |
A |
T |
5: 131,469,362 (GRCm39) |
S428T |
probably benign |
Het |
B3gnt7 |
T |
A |
1: 86,233,433 (GRCm39) |
C109* |
probably null |
Het |
C4b |
C |
A |
17: 34,947,843 (GRCm39) |
Q1657H |
probably damaging |
Het |
Cadm2 |
A |
T |
16: 66,544,225 (GRCm39) |
L268* |
probably null |
Het |
Cep290 |
G |
A |
10: 100,390,262 (GRCm39) |
|
probably benign |
Het |
Cep68 |
T |
G |
11: 20,180,571 (GRCm39) |
I687L |
probably benign |
Het |
Chd6 |
T |
A |
2: 160,894,608 (GRCm39) |
D84V |
probably damaging |
Het |
Clpx |
A |
G |
9: 65,230,051 (GRCm39) |
T514A |
probably benign |
Het |
Cox18 |
A |
T |
5: 90,362,887 (GRCm39) |
C324S |
probably benign |
Het |
Cryzl2 |
T |
C |
1: 157,289,586 (GRCm39) |
Y75H |
probably damaging |
Het |
Cxcr6 |
C |
T |
9: 123,640,016 (GRCm39) |
A339V |
possibly damaging |
Het |
Dock1 |
T |
C |
7: 134,765,171 (GRCm39) |
L1721P |
probably benign |
Het |
Dstyk |
T |
C |
1: 132,380,818 (GRCm39) |
|
probably benign |
Het |
Ecpas |
T |
C |
4: 58,827,047 (GRCm39) |
T1029A |
possibly damaging |
Het |
Ehf |
A |
G |
2: 103,097,215 (GRCm39) |
Y246H |
probably damaging |
Het |
Epas1 |
T |
C |
17: 87,112,621 (GRCm39) |
V73A |
probably benign |
Het |
Filip1 |
A |
G |
9: 79,725,592 (GRCm39) |
I1009T |
possibly damaging |
Het |
Glis3 |
A |
T |
19: 28,276,168 (GRCm39) |
|
probably benign |
Het |
Gm17333 |
A |
T |
16: 77,649,678 (GRCm39) |
|
noncoding transcript |
Het |
Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
Gpr155 |
A |
T |
2: 73,200,346 (GRCm39) |
I387N |
possibly damaging |
Het |
Gria1 |
A |
G |
11: 57,076,853 (GRCm39) |
D83G |
probably damaging |
Het |
Grid2 |
A |
G |
6: 64,643,036 (GRCm39) |
I933V |
probably benign |
Het |
Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
Hook2 |
A |
G |
8: 85,720,196 (GRCm39) |
|
probably benign |
Het |
Ift140 |
T |
A |
17: 25,269,314 (GRCm39) |
S656R |
possibly damaging |
Het |
Kank1 |
A |
G |
19: 25,388,606 (GRCm39) |
I760V |
probably benign |
Het |
Kansl1 |
T |
C |
11: 104,314,958 (GRCm39) |
E360G |
possibly damaging |
Het |
Klf9 |
A |
T |
19: 23,119,446 (GRCm39) |
S110C |
probably damaging |
Het |
Klhl31 |
A |
G |
9: 77,557,935 (GRCm39) |
N217S |
probably benign |
Het |
Lct |
T |
C |
1: 128,228,262 (GRCm39) |
Y1077C |
probably damaging |
Het |
Lrrc49 |
A |
T |
9: 60,517,529 (GRCm39) |
|
probably benign |
Het |
Lrrn1 |
T |
A |
6: 107,546,081 (GRCm39) |
H626Q |
probably benign |
Het |
Mmp28 |
A |
T |
11: 83,342,558 (GRCm39) |
L40Q |
probably damaging |
Het |
Mroh1 |
C |
T |
15: 76,336,299 (GRCm39) |
A1530V |
probably benign |
Het |
Myo1e |
A |
G |
9: 70,209,075 (GRCm39) |
|
probably benign |
Het |
Naa25 |
A |
T |
5: 121,573,553 (GRCm39) |
M761L |
probably benign |
Het |
Ncln |
G |
A |
10: 81,324,131 (GRCm39) |
A465V |
probably damaging |
Het |
Nktr |
A |
G |
9: 121,560,550 (GRCm39) |
N98S |
probably damaging |
Het |
Or52h9 |
T |
A |
7: 104,202,576 (GRCm39) |
V150E |
probably benign |
Het |
Or5a1 |
G |
C |
19: 12,097,734 (GRCm39) |
A114G |
possibly damaging |
Het |
Or6d15 |
C |
A |
6: 116,559,742 (GRCm39) |
S55I |
probably benign |
Het |
Or8b4 |
G |
T |
9: 37,830,849 (GRCm39) |
A304S |
possibly damaging |
Het |
Or9g3 |
T |
C |
2: 85,590,248 (GRCm39) |
I157M |
possibly damaging |
Het |
Pacsin2 |
T |
C |
15: 83,270,983 (GRCm39) |
Y222C |
probably damaging |
Het |
Pcdhb15 |
C |
T |
18: 37,607,221 (GRCm39) |
T151M |
possibly damaging |
Het |
Plcz1 |
C |
A |
6: 139,968,956 (GRCm39) |
V161L |
possibly damaging |
Het |
Ppp6c |
G |
A |
2: 39,090,136 (GRCm39) |
|
probably benign |
Het |
Relch |
A |
G |
1: 105,678,684 (GRCm39) |
|
probably benign |
Het |
Rhbdf2 |
T |
A |
11: 116,494,818 (GRCm39) |
Y286F |
probably benign |
Het |
Rtn3 |
A |
T |
19: 7,435,241 (GRCm39) |
D231E |
probably damaging |
Het |
Slc35c2 |
A |
C |
2: 165,122,815 (GRCm39) |
Y156* |
probably null |
Het |
Spata46 |
A |
G |
1: 170,139,106 (GRCm39) |
D35G |
probably damaging |
Het |
Tmed3 |
A |
G |
9: 89,584,926 (GRCm39) |
F110L |
possibly damaging |
Het |
Tmem104 |
T |
G |
11: 115,092,134 (GRCm39) |
|
probably benign |
Het |
Tpbg |
T |
A |
9: 85,726,991 (GRCm39) |
V320E |
possibly damaging |
Het |
Trib2 |
T |
C |
12: 15,843,664 (GRCm39) |
D190G |
probably damaging |
Het |
Tspan2 |
A |
G |
3: 102,666,701 (GRCm39) |
T26A |
probably damaging |
Het |
Usp17lb |
A |
C |
7: 104,490,358 (GRCm39) |
Y190D |
possibly damaging |
Het |
Utp18 |
C |
T |
11: 93,770,973 (GRCm39) |
|
probably benign |
Het |
Utp20 |
A |
T |
10: 88,656,841 (GRCm39) |
D121E |
probably damaging |
Het |
Vmn1r80 |
T |
A |
7: 11,927,244 (GRCm39) |
M118K |
possibly damaging |
Het |
Vmn1r84 |
T |
C |
7: 12,095,794 (GRCm39) |
S300G |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGGAATTTGGGCCAGCGAATC -3'
(R):5'- AGTTACCCAGGACAGCAGTCCTAC -3'
Sequencing Primer
(F):5'- ACAGGTCCTGAGGCTCAATG -3'
(R):5'- GAATCAGGTCTTCTGAGACCAGC -3'
|
Posted On |
2013-05-23 |