Incidental Mutation 'R2424:Il11ra1'
| ID |
249473 |
| 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 |
040386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.786)
|
| Stock # |
R2424 (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 41768222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 378
(S378T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074387]
[ENSMUST00000098132]
[ENSMUST00000108032]
[ENSMUST00000108033]
[ENSMUST00000108035]
[ENSMUST00000108036]
[ENSMUST00000108037]
[ENSMUST00000108042]
[ENSMUST00000108040]
[ENSMUST00000108041]
[ENSMUST00000131349]
[ENSMUST00000151142]
[ENSMUST00000155322]
[ENSMUST00000155240]
[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: S378T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095736
Gene: ENSMUSG00000073889
AA Change: S378T
| 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: ENSMUST00000108042
AA Change: S378T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103677
Gene: ENSMUSG00000073889
AA Change: S378T
| 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: S378T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103675
Gene: ENSMUSG00000073889
AA Change: S378T
| 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: S378T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889
AA Change: S378T
| 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: ENSMUST00000130197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140894
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133572
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144090
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136768
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138337
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152748
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151142
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155322
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155240
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173865
|
| Meta Mutation Damage Score |
0.1075 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
A |
G |
5: 125,590,159 (GRCm39) |
|
probably null |
Het |
| Acot3 |
G |
T |
12: 84,100,638 (GRCm39) |
R138L |
probably damaging |
Het |
| Ago3 |
A |
G |
4: 126,298,040 (GRCm39) |
V160A |
probably damaging |
Het |
| Akap9 |
A |
C |
5: 4,115,279 (GRCm39) |
E166D |
probably damaging |
Het |
| Arid5a |
T |
C |
1: 36,357,582 (GRCm39) |
Y136H |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,494,297 (GRCm39) |
V244A |
probably benign |
Het |
| Atp10a |
A |
T |
7: 58,444,303 (GRCm39) |
H560L |
probably benign |
Het |
| Btbd6 |
A |
G |
12: 112,941,980 (GRCm39) |
T482A |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,770,980 (GRCm39) |
Y1828N |
probably damaging |
Het |
| Capzb |
A |
G |
4: 138,921,441 (GRCm39) |
M1V |
probably null |
Het |
| Cdh9 |
T |
G |
15: 16,850,440 (GRCm39) |
F524L |
probably damaging |
Het |
| Ctnna1 |
T |
C |
18: 35,386,760 (GRCm39) |
S846P |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dock7 |
T |
A |
4: 98,833,544 (GRCm39) |
R1886* |
probably null |
Het |
| Dpp3 |
A |
T |
19: 4,957,735 (GRCm39) |
L711* |
probably null |
Het |
| Dst |
T |
A |
1: 34,206,141 (GRCm39) |
I566N |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,928,045 (GRCm39) |
S421R |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,011,828 (GRCm39) |
V825A |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,341,072 (GRCm39) |
|
probably benign |
Het |
| Fam187a |
T |
C |
11: 102,776,780 (GRCm39) |
Y195H |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,336,859 (GRCm39) |
C132Y |
probably damaging |
Het |
| Fbxw21 |
A |
T |
9: 108,986,587 (GRCm39) |
Y97* |
probably null |
Het |
| Grin1 |
A |
T |
2: 25,208,664 (GRCm39) |
C79S |
probably null |
Het |
| Haao |
T |
A |
17: 84,142,991 (GRCm39) |
Y118F |
probably damaging |
Het |
| Kcnj5 |
A |
T |
9: 32,234,116 (GRCm39) |
N66K |
probably damaging |
Het |
| Kif21a |
T |
A |
15: 90,855,399 (GRCm39) |
N668I |
probably damaging |
Het |
| Kprp |
A |
T |
3: 92,732,912 (GRCm39) |
L46Q |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,105,660 (GRCm39) |
T2056I |
probably benign |
Het |
| Madd |
G |
C |
2: 90,996,967 (GRCm39) |
D824E |
probably damaging |
Het |
| Mapk9 |
A |
G |
11: 49,754,499 (GRCm39) |
N84S |
probably damaging |
Het |
| Mrpl39 |
A |
G |
16: 84,527,748 (GRCm39) |
V160A |
probably benign |
Het |
| Mrpl9 |
T |
C |
3: 94,351,113 (GRCm39) |
S98P |
probably benign |
Het |
| Mybpc3 |
A |
T |
2: 90,966,138 (GRCm39) |
M1233L |
probably benign |
Het |
| Neb |
A |
G |
2: 52,099,671 (GRCm39) |
|
probably benign |
Het |
| Ngly1 |
A |
G |
14: 16,290,721 (GRCm38) |
|
probably null |
Het |
| Nt5c1b |
A |
T |
12: 10,420,072 (GRCm39) |
T4S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,885,277 (GRCm39) |
|
probably benign |
Het |
| Or2h2c |
T |
C |
17: 37,422,408 (GRCm39) |
I155M |
probably benign |
Het |
| Or4k15b |
T |
C |
14: 50,272,281 (GRCm39) |
Y193C |
probably damaging |
Het |
| Or8b1b |
T |
C |
9: 38,376,128 (GRCm39) |
S264P |
probably damaging |
Het |
| Or8g53 |
A |
G |
9: 39,683,593 (GRCm39) |
F168L |
probably benign |
Het |
| Otog |
A |
T |
7: 45,947,593 (GRCm39) |
K64* |
probably null |
Het |
| Papola |
A |
G |
12: 105,793,311 (GRCm39) |
T544A |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,297,002 (GRCm39) |
V790A |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,845,430 (GRCm39) |
R1252S |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,730 (GRCm39) |
T691A |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,783,111 (GRCm39) |
I159F |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,792,560 (GRCm39) |
E62V |
probably benign |
Het |
| Rnase1 |
A |
G |
14: 51,383,004 (GRCm39) |
Y117H |
possibly damaging |
Het |
| Rnf214 |
T |
C |
9: 45,811,096 (GRCm39) |
D189G |
probably damaging |
Het |
| Sema4b |
A |
G |
7: 79,869,023 (GRCm39) |
N365S |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,446,590 (GRCm39) |
H2480R |
probably benign |
Het |
| Slc27a6 |
G |
T |
18: 58,738,189 (GRCm39) |
C415F |
probably benign |
Het |
| Stim1 |
A |
G |
7: 102,057,612 (GRCm39) |
I142V |
probably benign |
Het |
| Supt5 |
T |
C |
7: 28,014,590 (GRCm39) |
I1070V |
possibly damaging |
Het |
| Tbp |
T |
C |
17: 15,733,795 (GRCm39) |
F174L |
possibly damaging |
Het |
| Tex26 |
A |
G |
5: 149,393,913 (GRCm39) |
|
probably benign |
Het |
| Tmem132d |
A |
G |
5: 127,941,663 (GRCm39) |
V479A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,711,489 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
T |
A |
8: 124,757,165 (GRCm39) |
N957K |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,256,310 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
T |
C |
17: 23,515,842 (GRCm39) |
T550A |
possibly damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,161 (GRCm39) |
V296A |
probably damaging |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,431 (GRCm39) |
Y699* |
probably null |
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 |
|
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'- TGAGATACCTGATTGGAGCCAG -3'
(R):5'- AGACGTGGTTCCAAACTCC -3'
Sequencing Primer
(F):5'- CAGCTAGAGGCAGTAGTAGCTC -3'
(R):5'- TGGTTCCAAACTCCAGCAGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation