Incidental Mutation 'R9508:Il11ra1'
| ID |
717919 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.786)
|
| Stock # |
R9508 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
41760443-41769473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41767527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 293
(V293A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074387]
[ENSMUST00000098132]
[ENSMUST00000108033]
[ENSMUST00000108035]
[ENSMUST00000108036]
[ENSMUST00000108037]
[ENSMUST00000108040]
[ENSMUST00000108041]
[ENSMUST00000108042]
[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: V293A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095736
Gene: ENSMUSG00000073889
AA Change: V293A
| 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: V293A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103675
Gene: ENSMUSG00000073889
AA Change: V293A
| 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: V293A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889
AA Change: V293A
| 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: V293A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103677
Gene: ENSMUSG00000073889
AA Change: V293A
| 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: ENSMUST00000140894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152748
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138337
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155322
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136768
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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 |
|---|
| 4833420G17Rik |
G |
A |
13: 119,617,484 (GRCm39) |
V536I |
|
Het |
| Adam18 |
A |
G |
8: 25,143,778 (GRCm39) |
I187T |
possibly damaging |
Het |
| Adam24 |
A |
G |
8: 41,132,941 (GRCm39) |
I136M |
probably benign |
Het |
| B3galt2 |
A |
T |
1: 143,522,280 (GRCm39) |
I139F |
possibly damaging |
Het |
| Cacna1i |
C |
T |
15: 80,279,372 (GRCm39) |
P2038S |
probably benign |
Het |
| Cbll1 |
A |
T |
12: 31,544,685 (GRCm39) |
I26N |
probably damaging |
Het |
| Cldn1 |
A |
T |
16: 26,179,619 (GRCm39) |
Y149* |
probably null |
Het |
| Cnot11 |
T |
C |
1: 39,581,575 (GRCm39) |
V372A |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,329,616 (GRCm39) |
L458P |
probably damaging |
Het |
| Cnot4 |
T |
C |
6: 35,045,554 (GRCm39) |
E219G |
|
Het |
| Col8a1 |
T |
G |
16: 57,448,947 (GRCm39) |
I188L |
unknown |
Het |
| Daam2 |
T |
C |
17: 49,765,618 (GRCm39) |
K1095R |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,725,089 (GRCm39) |
T4355A |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,604,070 (GRCm39) |
I846V |
probably damaging |
Het |
| Ehd4 |
C |
T |
2: 119,921,966 (GRCm39) |
G430E |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,083,033 (GRCm39) |
Y670H |
possibly damaging |
Het |
| Galnt10 |
T |
A |
11: 57,673,040 (GRCm39) |
N465K |
possibly damaging |
Het |
| Glipr1l1 |
A |
G |
10: 111,912,015 (GRCm39) |
N183S |
probably damaging |
Het |
| Gnl1 |
T |
C |
17: 36,299,625 (GRCm39) |
Y599H |
possibly damaging |
Het |
| Gpr26 |
T |
C |
7: 131,585,830 (GRCm39) |
S267P |
probably benign |
Het |
| Grk2 |
A |
T |
19: 4,341,636 (GRCm39) |
N179K |
probably damaging |
Het |
| Igf2bp2 |
T |
A |
16: 21,898,845 (GRCm39) |
M255L |
probably benign |
Het |
| Ighv2-6 |
T |
C |
12: 113,680,430 (GRCm39) |
I70M |
probably benign |
Het |
| Igkv4-74 |
T |
A |
6: 69,161,942 (GRCm39) |
N76Y |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kank2 |
A |
T |
9: 21,687,076 (GRCm39) |
L582Q |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,269,259 (GRCm39) |
T2554A |
probably damaging |
Het |
| Mecom |
T |
A |
3: 30,010,621 (GRCm39) |
Y619F |
probably benign |
Het |
| Mknk1 |
A |
G |
4: 115,732,579 (GRCm39) |
N269S |
probably benign |
Het |
| Mpp2 |
T |
A |
11: 101,951,692 (GRCm39) |
E435D |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Or2f2 |
A |
G |
6: 42,767,928 (GRCm39) |
*318W |
probably null |
Het |
| Or5g9 |
A |
G |
2: 85,552,165 (GRCm39) |
R139G |
possibly damaging |
Het |
| Or7a41 |
A |
T |
10: 78,870,933 (GRCm39) |
Q101L |
probably damaging |
Het |
| P3h3 |
A |
G |
6: 124,830,012 (GRCm39) |
|
probably null |
Het |
| Paqr5 |
C |
T |
9: 61,880,079 (GRCm39) |
V72M |
probably benign |
Het |
| Pilrb2 |
G |
A |
5: 137,869,261 (GRCm39) |
T113I |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,121 (GRCm39) |
E63G |
probably damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,542,561 (GRCm39) |
V108M |
possibly damaging |
Het |
| Ptprf |
G |
T |
4: 118,126,776 (GRCm39) |
S46* |
probably null |
Het |
| Rab2a |
T |
C |
4: 8,582,447 (GRCm39) |
L143P |
|
Het |
| Rassf7 |
C |
T |
7: 140,796,924 (GRCm39) |
R46* |
probably null |
Het |
| Sec23a |
T |
C |
12: 59,036,185 (GRCm39) |
D393G |
probably benign |
Het |
| Semp2l2b |
A |
G |
10: 21,942,816 (GRCm39) |
V388A |
probably damaging |
Het |
| Serpinb9f |
T |
A |
13: 33,518,515 (GRCm39) |
F338L |
probably benign |
Het |
| Spg7 |
T |
C |
8: 123,800,623 (GRCm39) |
V66A |
probably damaging |
Het |
| Sult2a4 |
C |
T |
7: 13,723,437 (GRCm39) |
R27H |
probably benign |
Het |
| Sumo2 |
A |
C |
11: 115,414,538 (GRCm39) |
Y95D |
possibly damaging |
Het |
| Tbx18 |
G |
A |
9: 87,587,926 (GRCm39) |
S397F |
probably damaging |
Het |
| Ticam2 |
G |
C |
18: 46,693,748 (GRCm39) |
P113R |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,076,096 (GRCm39) |
S63G |
probably benign |
Het |
| Tinag |
C |
T |
9: 76,912,981 (GRCm39) |
C276Y |
probably damaging |
Het |
| Tmem143 |
A |
T |
7: 45,565,630 (GRCm39) |
K364* |
probably null |
Het |
| Tmem160 |
A |
G |
7: 16,186,840 (GRCm39) |
|
probably benign |
Het |
| Tmod4 |
G |
C |
3: 95,034,713 (GRCm39) |
E154Q |
probably benign |
Het |
| Trpv1 |
G |
T |
11: 73,145,090 (GRCm39) |
K725N |
|
Het |
| Ttn |
G |
T |
2: 76,715,978 (GRCm39) |
A7767D |
unknown |
Het |
| Tubd1 |
T |
A |
11: 86,448,640 (GRCm39) |
Y318N |
probably damaging |
Het |
| Ufd1 |
T |
A |
16: 18,643,802 (GRCm39) |
M187K |
possibly damaging |
Het |
| Unc5c |
A |
G |
3: 141,494,736 (GRCm39) |
N424D |
possibly damaging |
Het |
| Usp19 |
C |
T |
9: 108,371,608 (GRCm39) |
S329L |
probably damaging |
Het |
| Vps16 |
T |
A |
2: 130,284,361 (GRCm39) |
I704N |
possibly damaging |
Het |
| Vwf |
A |
T |
6: 125,532,471 (GRCm39) |
I72F |
|
Het |
| Ypel4 |
T |
C |
2: 84,567,304 (GRCm39) |
S46P |
probably damaging |
Het |
| Zcchc8 |
A |
C |
5: 123,842,584 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATCCCAGACCTAGGTTTTGTCC -3'
(R):5'- TGCTGAAGGCCCCTAACAAG -3'
Sequencing Primer
(F):5'- AGACCTAGGTTTTGTCCCATCAG -3'
(R):5'- CAAGGGGATGTGTAAAACTGTCC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation