Incidental Mutation 'R1585:Il11ra1'
ID |
177416 |
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 |
039622-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.796)
|
Stock # |
R1585 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
41760443-41769473 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 41768207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 373
(S373T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074387]
[ENSMUST00000098132]
[ENSMUST00000108032]
[ENSMUST00000108033]
[ENSMUST00000108035]
[ENSMUST00000108036]
[ENSMUST00000108037]
[ENSMUST00000108041]
[ENSMUST00000108042]
[ENSMUST00000108040]
[ENSMUST00000131349]
[ENSMUST00000155322]
[ENSMUST00000155240]
[ENSMUST00000151142]
[ENSMUST00000173865]
|
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: S373T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095736 Gene: ENSMUSG00000073889 AA Change: S373T
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: ENSMUST00000108032
|
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: ENSMUST00000108041
AA Change: S373T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103676 Gene: ENSMUSG00000073889 AA Change: S373T
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: S373T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103677 Gene: ENSMUSG00000073889 AA Change: S373T
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: ENSMUST00000108040
AA Change: S373T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103675 Gene: ENSMUSG00000073889 AA Change: S373T
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: ENSMUST00000136768
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146608
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145445
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138337
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133572
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142059
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144090
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130197
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131349
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155538
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155322
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152748
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155240
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151909
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151142
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173865
|
Meta Mutation Damage Score |
0.1341 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.2%
|
Validation Efficiency |
95% (81/85) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
T |
A |
10: 28,858,518 (GRCm39) |
I50F |
possibly damaging |
Het |
4930505A04Rik |
T |
C |
11: 30,377,175 (GRCm39) |
|
probably benign |
Het |
Aadat |
A |
T |
8: 60,979,714 (GRCm39) |
D192V |
possibly damaging |
Het |
Akap12 |
A |
G |
10: 4,303,640 (GRCm39) |
D150G |
probably benign |
Het |
Amigo3 |
A |
T |
9: 107,931,231 (GRCm39) |
N218I |
probably damaging |
Het |
Ankmy1 |
A |
G |
1: 92,827,373 (GRCm39) |
S60P |
probably benign |
Het |
Apol7e |
G |
A |
15: 77,602,029 (GRCm39) |
S209N |
probably damaging |
Het |
AW551984 |
A |
T |
9: 39,510,632 (GRCm39) |
Y234* |
probably null |
Het |
Bcam |
A |
T |
7: 19,494,111 (GRCm39) |
D393E |
probably damaging |
Het |
Card9 |
A |
G |
2: 26,244,398 (GRCm39) |
L444P |
probably benign |
Het |
Ccar1 |
T |
C |
10: 62,586,780 (GRCm39) |
E886G |
unknown |
Het |
Ccnb2 |
A |
T |
9: 70,317,559 (GRCm39) |
|
probably null |
Het |
Cd276 |
T |
C |
9: 58,442,838 (GRCm39) |
S206G |
probably damaging |
Het |
Cds1 |
T |
A |
5: 101,965,828 (GRCm39) |
|
probably benign |
Het |
Cfap96 |
G |
A |
8: 46,409,515 (GRCm39) |
S268L |
probably benign |
Het |
Chuk |
T |
C |
19: 44,065,812 (GRCm39) |
S661G |
possibly damaging |
Het |
Col17a1 |
T |
C |
19: 47,639,276 (GRCm39) |
N1090D |
probably benign |
Het |
Col3a1 |
A |
T |
1: 45,367,026 (GRCm39) |
|
probably null |
Het |
Crispld1 |
G |
T |
1: 17,821,024 (GRCm39) |
V355F |
possibly damaging |
Het |
Cspg4 |
A |
T |
9: 56,806,151 (GRCm39) |
R2321W |
probably damaging |
Het |
Dner |
T |
C |
1: 84,563,177 (GRCm39) |
T61A |
probably benign |
Het |
Dnmt3a |
A |
T |
12: 3,951,660 (GRCm39) |
Y679F |
probably damaging |
Het |
Dzip3 |
A |
T |
16: 48,798,241 (GRCm39) |
|
probably benign |
Het |
Eif3l |
T |
C |
15: 78,968,381 (GRCm39) |
S217P |
possibly damaging |
Het |
Fbxo42 |
T |
A |
4: 140,925,417 (GRCm39) |
|
probably benign |
Het |
Fhod1 |
A |
T |
8: 106,063,957 (GRCm39) |
|
probably benign |
Het |
Fzd1 |
T |
A |
5: 4,806,278 (GRCm39) |
I435F |
probably damaging |
Het |
Gapvd1 |
C |
T |
2: 34,602,207 (GRCm39) |
V647I |
possibly damaging |
Het |
Gm14496 |
T |
C |
2: 181,638,002 (GRCm39) |
S359P |
possibly damaging |
Het |
Gm5218 |
C |
A |
15: 81,383,741 (GRCm39) |
|
noncoding transcript |
Het |
Hnrnph3 |
A |
G |
10: 62,851,579 (GRCm39) |
|
probably null |
Het |
Hsd17b12 |
G |
T |
2: 93,864,321 (GRCm39) |
T262K |
probably damaging |
Het |
Igsf10 |
G |
C |
3: 59,237,838 (GRCm39) |
P781R |
probably damaging |
Het |
Kdm3b |
A |
G |
18: 34,942,345 (GRCm39) |
D612G |
probably damaging |
Het |
Ldb1 |
T |
C |
19: 46,022,903 (GRCm39) |
T261A |
probably damaging |
Het |
Lep |
C |
A |
6: 29,069,089 (GRCm39) |
H47N |
possibly damaging |
Het |
Lrrtm2 |
A |
T |
18: 35,346,428 (GRCm39) |
S291R |
possibly damaging |
Het |
Ncor2 |
T |
C |
5: 125,162,062 (GRCm39) |
Q404R |
unknown |
Het |
Nlrp4d |
T |
C |
7: 10,116,437 (GRCm39) |
H148R |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,258,093 (GRCm39) |
D570E |
probably benign |
Het |
Nphp3 |
G |
A |
9: 103,886,413 (GRCm39) |
V202I |
probably damaging |
Het |
Nptn |
T |
A |
9: 58,548,073 (GRCm39) |
N159K |
probably benign |
Het |
Or4a69 |
T |
A |
2: 89,313,315 (GRCm39) |
T55S |
probably benign |
Het |
Or4a72 |
A |
T |
2: 89,405,746 (GRCm39) |
V108D |
possibly damaging |
Het |
Or51f2 |
G |
A |
7: 102,526,980 (GRCm39) |
V218I |
probably benign |
Het |
Or52a24 |
A |
T |
7: 103,381,585 (GRCm39) |
T151S |
possibly damaging |
Het |
Or8b53 |
A |
T |
9: 38,667,716 (GRCm39) |
H244L |
probably damaging |
Het |
Pcolce |
T |
A |
5: 137,608,769 (GRCm39) |
R13* |
probably null |
Het |
Pdgfra |
A |
G |
5: 75,353,264 (GRCm39) |
Y1018C |
probably damaging |
Het |
Prima1 |
A |
G |
12: 103,201,854 (GRCm39) |
S74P |
probably damaging |
Het |
Prl7c1 |
A |
G |
13: 27,962,838 (GRCm39) |
L55P |
probably damaging |
Het |
Rasef |
A |
G |
4: 73,658,574 (GRCm39) |
V513A |
probably damaging |
Het |
Rgs1 |
T |
C |
1: 144,121,227 (GRCm39) |
|
probably null |
Het |
Rlf |
T |
C |
4: 121,005,488 (GRCm39) |
E1164G |
probably benign |
Het |
Rnf213 |
A |
T |
11: 119,354,171 (GRCm39) |
N4016I |
probably damaging |
Het |
Sae1 |
C |
T |
7: 16,064,537 (GRCm39) |
|
probably null |
Het |
Serping1 |
A |
T |
2: 84,601,848 (GRCm39) |
D207E |
probably benign |
Het |
Setd2 |
T |
A |
9: 110,380,464 (GRCm39) |
D33E |
unknown |
Het |
Simc1 |
T |
C |
13: 54,673,071 (GRCm39) |
M473T |
probably benign |
Het |
Slc30a6 |
T |
A |
17: 74,725,610 (GRCm39) |
|
probably benign |
Het |
Slc4a5 |
T |
C |
6: 83,242,669 (GRCm39) |
L346P |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,596,660 (GRCm39) |
Q1473L |
probably damaging |
Het |
St3gal3 |
G |
T |
4: 117,817,204 (GRCm39) |
A44D |
possibly damaging |
Het |
Sv2b |
G |
T |
7: 74,797,425 (GRCm39) |
T323K |
probably damaging |
Het |
Sycp2 |
T |
A |
2: 177,993,461 (GRCm39) |
N1228I |
possibly damaging |
Het |
Thbs2 |
T |
A |
17: 14,910,030 (GRCm39) |
M190L |
probably benign |
Het |
Tnrc6a |
G |
A |
7: 122,776,098 (GRCm39) |
V1190I |
probably benign |
Het |
Utrn |
A |
T |
10: 12,312,029 (GRCm39) |
I673K |
possibly damaging |
Het |
Vmn2r114 |
C |
T |
17: 23,510,675 (GRCm39) |
V602M |
probably damaging |
Het |
Wdr7 |
A |
T |
18: 64,057,989 (GRCm39) |
I1273L |
probably benign |
Het |
Zfp618 |
T |
C |
4: 63,051,175 (GRCm39) |
L652P |
probably damaging |
Het |
Zfp804a |
G |
A |
2: 81,884,095 (GRCm39) |
|
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 |
R0399:Il11ra1
|
UTSW |
4 |
41,766,185 (GRCm39) |
missense |
probably benign |
0.03 |
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'- ATACCTGATTGGAGCCAGGGACAC -3'
(R):5'- TCAGCCTCAGCCTGAAGCATAAAAG -3'
Sequencing Primer
(F):5'- CAGCTAGAGGCAGTAGTAGCTC -3'
(R):5'- CGTCCACGAGGATTGATTAGC -3'
|
Posted On |
2014-04-24 |