Incidental Mutation 'R6499:Il11ra1'
| ID |
519619 |
| 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 |
044631-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.786)
|
| Stock # |
R6499 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
41760443-41769473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41765412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 169
(P169L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074387]
[ENSMUST00000098132]
[ENSMUST00000108033]
[ENSMUST00000108035]
[ENSMUST00000108036]
[ENSMUST00000108037]
[ENSMUST00000108040]
[ENSMUST00000108041]
[ENSMUST00000108042]
[ENSMUST00000131349]
[ENSMUST00000151142]
[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 benign
Transcript: ENSMUST00000098132
AA Change: P169L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000095736
Gene: ENSMUSG00000073889
AA Change: P169L
| 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: P169L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103675
Gene: ENSMUSG00000073889
AA Change: P169L
| 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: P169L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889
AA Change: P169L
| 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: P169L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103677
Gene: ENSMUSG00000073889
AA Change: P169L
| 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: ENSMUST00000138337
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136768
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140894
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152748
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151142
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155322
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,774,561 (GRCm39) |
T1250M |
probably damaging |
Het |
| Actn1 |
C |
T |
12: 80,215,191 (GRCm39) |
A857T |
possibly damaging |
Het |
| Adam2 |
C |
T |
14: 66,296,239 (GRCm39) |
V207I |
probably damaging |
Het |
| Angpt2 |
T |
C |
8: 18,744,533 (GRCm39) |
T404A |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,827,574 (GRCm39) |
|
probably benign |
Het |
| Atosa |
C |
A |
9: 74,930,930 (GRCm39) |
Q958K |
probably damaging |
Het |
| B4galt4 |
T |
A |
16: 38,578,184 (GRCm39) |
D210E |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,777,431 (GRCm39) |
H626L |
possibly damaging |
Het |
| Ccna2 |
T |
G |
3: 36,625,112 (GRCm39) |
D68A |
probably damaging |
Het |
| Cd163 |
G |
A |
6: 124,281,703 (GRCm39) |
G2D |
probably benign |
Het |
| Chrm5 |
A |
T |
2: 112,310,825 (GRCm39) |
V97D |
probably benign |
Het |
| Dctn5 |
G |
A |
7: 121,734,320 (GRCm39) |
V55I |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 162,141,164 (GRCm39) |
I365N |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,284,790 (GRCm39) |
D184G |
probably damaging |
Het |
| Ifi214 |
C |
A |
1: 173,352,597 (GRCm39) |
K277N |
probably damaging |
Het |
| Inhbb |
C |
T |
1: 119,345,069 (GRCm39) |
E407K |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 26,907,154 (GRCm39) |
T2336S |
probably damaging |
Het |
| Ldhb |
A |
T |
6: 142,439,847 (GRCm39) |
V231E |
possibly damaging |
Het |
| Lrit2 |
T |
C |
14: 36,790,767 (GRCm39) |
F149L |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,936,500 (GRCm39) |
S1575T |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,358,102 (GRCm39) |
C1045R |
probably benign |
Het |
| Nefl |
A |
G |
14: 68,322,034 (GRCm39) |
E208G |
probably damaging |
Het |
| Oog4 |
A |
C |
4: 143,164,548 (GRCm39) |
S328A |
probably damaging |
Het |
| Or1e1 |
T |
A |
11: 73,245,011 (GRCm39) |
L144Q |
probably damaging |
Het |
| Or5p79 |
G |
T |
7: 108,221,713 (GRCm39) |
M231I |
probably benign |
Het |
| Or6c216 |
T |
C |
10: 129,678,453 (GRCm39) |
I153V |
probably benign |
Het |
| Or7e168 |
A |
G |
9: 19,719,847 (GRCm39) |
I78V |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,783,466 (GRCm39) |
N528D |
probably damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Polq |
T |
C |
16: 36,881,189 (GRCm39) |
S839P |
probably benign |
Het |
| Psmg1 |
A |
G |
16: 95,789,297 (GRCm39) |
F87L |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,376,507 (GRCm39) |
M1298T |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,470,076 (GRCm39) |
W958R |
probably damaging |
Het |
| Skint5 |
T |
G |
4: 113,396,552 (GRCm39) |
D1207A |
unknown |
Het |
| Stx17 |
T |
A |
4: 48,183,478 (GRCm39) |
|
probably null |
Het |
| Tas2r114 |
A |
T |
6: 131,666,099 (GRCm39) |
*310R |
probably null |
Het |
| Tmem130 |
T |
A |
5: 144,689,224 (GRCm39) |
N139I |
probably damaging |
Het |
| Trpc1 |
T |
C |
9: 95,608,490 (GRCm39) |
E267G |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,793,812 (GRCm39) |
M3398K |
probably damaging |
Het |
| Vrtn |
T |
G |
12: 84,697,090 (GRCm39) |
D613E |
probably benign |
Het |
| Vsx1 |
G |
T |
2: 150,530,441 (GRCm39) |
T147K |
probably benign |
Het |
| Wdr55 |
T |
C |
18: 36,895,231 (GRCm39) |
V103A |
probably benign |
Het |
| Zfp712 |
A |
T |
13: 67,200,400 (GRCm39) |
D28E |
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 |
|
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 |
|
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'- TCCCTCCTAACCTCAGATGG -3'
(R):5'- AGCCATCTGTGACGACTCTG -3'
Sequencing Primer
(F):5'- GTAACCTTTTTACCAGGAAGAAGACG -3'
(R):5'- GTGACGACTCTGTCTTTATGAAAAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation