Incidental Mutation 'R0416:Lifr'
| ID |
40347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lifr
|
| Ensembl Gene |
ENSMUSG00000054263 |
| Gene Name |
LIF receptor alpha |
| Synonyms |
soluble differentiation-stimulating factor receptor, A230075M04Rik |
| MMRRC Submission |
038618-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0416 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
7120095-7226970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7196395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 193
(D193V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067190]
[ENSMUST00000164529]
[ENSMUST00000171588]
[ENSMUST00000226471]
[ENSMUST00000226934]
[ENSMUST00000227727]
[ENSMUST00000228723]
|
| AlphaFold |
P42703 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067190
AA Change: D193V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064551
Gene: ENSMUSG00000054263
AA Change: D193V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
Blast:FN3
|
45 |
118 |
5e-22 |
BLAST |
|
FN3
|
328 |
399 |
1.86e1 |
SMART |
|
FN3
|
425 |
515 |
9.77e-5 |
SMART |
|
FN3
|
530 |
611 |
2.68e0 |
SMART |
|
FN3
|
620 |
705 |
8.23e1 |
SMART |
|
FN3
|
719 |
815 |
4.81e-4 |
SMART |
|
transmembrane domain
|
830 |
852 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164529
AA Change: D193V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131434
Gene: ENSMUSG00000054263
AA Change: D193V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
Blast:FN3
|
45 |
118 |
4e-22 |
BLAST |
|
FN3
|
328 |
399 |
1.86e1 |
SMART |
|
FN3
|
425 |
515 |
9.77e-5 |
SMART |
|
FN3
|
530 |
611 |
2.68e0 |
SMART |
|
FN3
|
620 |
705 |
8.23e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171588
AA Change: D193V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126137
Gene: ENSMUSG00000054263
AA Change: D193V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
Blast:FN3
|
45 |
118 |
5e-22 |
BLAST |
|
FN3
|
328 |
399 |
1.86e1 |
SMART |
|
FN3
|
425 |
515 |
9.77e-5 |
SMART |
|
FN3
|
530 |
611 |
2.68e0 |
SMART |
|
FN3
|
620 |
705 |
8.23e1 |
SMART |
|
FN3
|
719 |
815 |
4.81e-4 |
SMART |
|
transmembrane domain
|
830 |
852 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226471
AA Change: D193V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226934
AA Change: D193V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227727
AA Change: D193V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228723
|
| Meta Mutation Damage Score |
0.4523 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 91.8%
|
| Validation Efficiency |
99% (74/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die as neonates with reduced numbers of facial and spinal motor neurons, neurons of the nucleus ambiguus, and astrocytes. Mutants also show impaired placentation, severe osteopenia, and low hepatic glycogen stores. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(22) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(19) |
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,162,779 (GRCm39) |
I18V |
probably benign |
Het |
| Adamdec1 |
T |
G |
14: 68,806,161 (GRCm39) |
E438A |
possibly damaging |
Het |
| Adamts17 |
A |
G |
7: 66,565,646 (GRCm39) |
|
probably null |
Het |
| Ankrd44 |
T |
G |
1: 54,782,498 (GRCm39) |
I359L |
possibly damaging |
Het |
| Ap2s1 |
C |
A |
7: 16,481,290 (GRCm39) |
N86K |
probably damaging |
Het |
| Arih1 |
T |
A |
9: 59,333,993 (GRCm39) |
|
probably benign |
Het |
| Astn1 |
T |
A |
1: 158,337,461 (GRCm39) |
I389N |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,492,857 (GRCm39) |
S3291P |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,822,645 (GRCm39) |
|
probably benign |
Het |
| Ccl7 |
C |
A |
11: 81,936,692 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,944,486 (GRCm39) |
Y232F |
possibly damaging |
Het |
| Cep128 |
A |
G |
12: 91,197,641 (GRCm39) |
|
probably benign |
Het |
| Cep89 |
T |
A |
7: 35,115,827 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
G |
13: 93,226,364 (GRCm39) |
N2908T |
probably benign |
Het |
| Coil |
T |
C |
11: 88,872,812 (GRCm39) |
L391S |
possibly damaging |
Het |
| Cpd |
C |
T |
11: 76,676,030 (GRCm39) |
V1208I |
probably benign |
Het |
| Ddx19a |
T |
C |
8: 111,705,689 (GRCm39) |
D254G |
probably damaging |
Het |
| Desi2 |
T |
A |
1: 178,083,887 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,874,793 (GRCm39) |
M4024K |
probably damaging |
Het |
| Ergic2 |
A |
T |
6: 148,084,642 (GRCm39) |
L53H |
probably damaging |
Het |
| Etv2 |
T |
C |
7: 30,334,058 (GRCm39) |
Y225C |
probably benign |
Het |
| F10 |
G |
A |
8: 13,105,448 (GRCm39) |
A338T |
probably damaging |
Het |
| Fam228b |
T |
A |
12: 4,812,382 (GRCm39) |
D132V |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,174,960 (GRCm39) |
I1918F |
possibly damaging |
Het |
| Fbxw5 |
C |
T |
2: 25,393,251 (GRCm39) |
S214F |
probably damaging |
Het |
| Glyat |
G |
A |
19: 12,628,817 (GRCm39) |
R204Q |
possibly damaging |
Het |
| Gm4825 |
T |
C |
15: 85,395,182 (GRCm39) |
|
noncoding transcript |
Het |
| Ino80d |
G |
T |
1: 63,125,435 (GRCm39) |
T9K |
possibly damaging |
Het |
| Lrp12 |
G |
T |
15: 39,742,307 (GRCm39) |
|
probably benign |
Het |
| Lrp3 |
A |
G |
7: 34,901,778 (GRCm39) |
V701A |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,756,708 (GRCm39) |
|
probably benign |
Het |
| Mrto4 |
A |
T |
4: 139,077,043 (GRCm39) |
|
probably null |
Het |
| Msi1 |
T |
C |
5: 115,568,708 (GRCm39) |
F43L |
possibly damaging |
Het |
| Mthfsd |
T |
C |
8: 121,827,976 (GRCm39) |
D168G |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,402,000 (GRCm39) |
V3099E |
probably damaging |
Het |
| Myrf |
T |
C |
19: 10,193,176 (GRCm39) |
|
probably null |
Het |
| Nadk |
C |
A |
4: 155,672,256 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,398,864 (GRCm39) |
K573E |
possibly damaging |
Het |
| Ndufs3 |
A |
G |
2: 90,728,732 (GRCm39) |
V207A |
probably damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,446,750 (GRCm39) |
|
probably benign |
Het |
| Nlrx1 |
T |
G |
9: 44,174,211 (GRCm39) |
D330A |
probably benign |
Het |
| Or2a56 |
G |
A |
6: 42,932,504 (GRCm39) |
C24Y |
probably benign |
Het |
| Or2t49 |
T |
C |
11: 58,393,222 (GRCm39) |
I53M |
unknown |
Het |
| Osbpl3 |
C |
T |
6: 50,324,998 (GRCm39) |
V167I |
probably benign |
Het |
| Pcnx1 |
A |
T |
12: 82,021,240 (GRCm39) |
I1410F |
probably benign |
Het |
| Piezo2 |
G |
A |
18: 63,157,562 (GRCm39) |
R2383C |
probably damaging |
Het |
| Pip5kl1 |
A |
T |
2: 32,473,436 (GRCm39) |
K358* |
probably null |
Het |
| Polg |
T |
C |
7: 79,101,988 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
T |
A |
5: 32,986,061 (GRCm39) |
I1145F |
probably benign |
Het |
| Psmb1 |
C |
T |
17: 15,714,781 (GRCm39) |
V39I |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 180,844,101 (GRCm39) |
Y66C |
possibly damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,062 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,694,029 (GRCm39) |
Y1801H |
probably damaging |
Het |
| Serpinb3a |
C |
A |
1: 106,977,116 (GRCm39) |
A95S |
probably benign |
Het |
| Setd1a |
CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,469 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,906,932 (GRCm39) |
Y98N |
probably damaging |
Het |
| Slc30a1 |
C |
T |
1: 191,641,838 (GRCm39) |
P495S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,783,684 (GRCm39) |
|
probably benign |
Het |
| Stk3 |
T |
A |
15: 35,114,778 (GRCm39) |
I45L |
probably benign |
Het |
| Tapbp |
A |
G |
17: 34,144,392 (GRCm39) |
T163A |
probably damaging |
Het |
| Tdrd5 |
T |
C |
1: 156,113,051 (GRCm39) |
K410E |
probably damaging |
Het |
| Trim30b |
A |
T |
7: 104,012,973 (GRCm39) |
M152K |
probably benign |
Het |
| Trpm6 |
G |
T |
19: 18,760,389 (GRCm39) |
|
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,742,743 (GRCm39) |
|
probably benign |
Het |
| U2surp |
A |
T |
9: 95,367,660 (GRCm39) |
F444I |
probably damaging |
Het |
| Vmn2r95 |
C |
T |
17: 18,661,664 (GRCm39) |
P470L |
probably damaging |
Het |
| Zc3h4 |
T |
G |
7: 16,154,200 (GRCm39) |
Y163D |
probably damaging |
Het |
| Zfp62 |
A |
T |
11: 49,106,503 (GRCm39) |
H198L |
probably damaging |
Het |
| Zmym1 |
A |
G |
4: 126,952,613 (GRCm39) |
L56P |
probably benign |
Het |
|
| Other mutations in Lifr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00702:Lifr
|
APN |
15 |
7,215,220 (GRCm39) |
splice site |
probably null |
|
|
IGL01470:Lifr
|
APN |
15 |
7,205,147 (GRCm39) |
nonsense |
probably null |
|
|
IGL01489:Lifr
|
APN |
15 |
7,205,037 (GRCm39) |
splice site |
probably benign |
|
|
IGL01619:Lifr
|
APN |
15 |
7,220,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01636:Lifr
|
APN |
15 |
7,208,499 (GRCm39) |
splice site |
probably benign |
|
|
IGL01943:Lifr
|
APN |
15 |
7,217,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02253:Lifr
|
APN |
15 |
7,220,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02355:Lifr
|
APN |
15 |
7,194,174 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02362:Lifr
|
APN |
15 |
7,194,174 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02450:Lifr
|
APN |
15 |
7,220,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Lifr
|
APN |
15 |
7,216,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02503:Lifr
|
APN |
15 |
7,215,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02571:Lifr
|
APN |
15 |
7,219,592 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03340:Lifr
|
APN |
15 |
7,207,417 (GRCm39) |
missense |
probably benign |
0.02 |
|
N/A - 535:Lifr
|
UTSW |
15 |
7,216,434 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0012:Lifr
|
UTSW |
15 |
7,205,089 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0015:Lifr
|
UTSW |
15 |
7,217,667 (GRCm39) |
splice site |
probably null |
|
|
R0102:Lifr
|
UTSW |
15 |
7,208,373 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0102:Lifr
|
UTSW |
15 |
7,208,373 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0305:Lifr
|
UTSW |
15 |
7,206,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0440:Lifr
|
UTSW |
15 |
7,186,672 (GRCm39) |
nonsense |
probably null |
|
|
R0519:Lifr
|
UTSW |
15 |
7,207,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Lifr
|
UTSW |
15 |
7,206,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Lifr
|
UTSW |
15 |
7,198,753 (GRCm39) |
splice site |
probably null |
|
|
R0780:Lifr
|
UTSW |
15 |
7,206,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0790:Lifr
|
UTSW |
15 |
7,215,196 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1376:Lifr
|
UTSW |
15 |
7,214,245 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1376:Lifr
|
UTSW |
15 |
7,214,245 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1400:Lifr
|
UTSW |
15 |
7,220,346 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1498:Lifr
|
UTSW |
15 |
7,220,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1785:Lifr
|
UTSW |
15 |
7,211,337 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1786:Lifr
|
UTSW |
15 |
7,211,337 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1906:Lifr
|
UTSW |
15 |
7,217,612 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2099:Lifr
|
UTSW |
15 |
7,186,732 (GRCm39) |
missense |
probably benign |
|
|
R2102:Lifr
|
UTSW |
15 |
7,216,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Lifr
|
UTSW |
15 |
7,211,338 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2511:Lifr
|
UTSW |
15 |
7,196,397 (GRCm39) |
missense |
probably benign |
|
|
R4375:Lifr
|
UTSW |
15 |
7,196,379 (GRCm39) |
missense |
probably benign |
|
|
R4883:Lifr
|
UTSW |
15 |
7,215,106 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5681:Lifr
|
UTSW |
15 |
7,220,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5689:Lifr
|
UTSW |
15 |
7,214,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5693:Lifr
|
UTSW |
15 |
7,205,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:Lifr
|
UTSW |
15 |
7,220,231 (GRCm39) |
missense |
probably benign |
|
|
R5918:Lifr
|
UTSW |
15 |
7,188,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5924:Lifr
|
UTSW |
15 |
7,202,453 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6037:Lifr
|
UTSW |
15 |
7,216,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6037:Lifr
|
UTSW |
15 |
7,216,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6289:Lifr
|
UTSW |
15 |
7,196,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6339:Lifr
|
UTSW |
15 |
7,196,530 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6860:Lifr
|
UTSW |
15 |
7,202,418 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7106:Lifr
|
UTSW |
15 |
7,202,405 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7107:Lifr
|
UTSW |
15 |
7,208,421 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7274:Lifr
|
UTSW |
15 |
7,196,540 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7625:Lifr
|
UTSW |
15 |
7,198,723 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7631:Lifr
|
UTSW |
15 |
7,214,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7958:Lifr
|
UTSW |
15 |
7,211,478 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7991:Lifr
|
UTSW |
15 |
7,202,963 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8175:Lifr
|
UTSW |
15 |
7,216,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Lifr
|
UTSW |
15 |
7,220,462 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9274:Lifr
|
UTSW |
15 |
7,217,591 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9311:Lifr
|
UTSW |
15 |
7,208,418 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9365:Lifr
|
UTSW |
15 |
7,198,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9509:Lifr
|
UTSW |
15 |
7,188,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGACCAAATGCTGACAAGGGCAC -3'
(R):5'- CCCATGTGAACCAAGGGTCTGTAAG -3'
Sequencing Primer
(F):5'- CCTCGTTACACTGTGTAGAAAC -3'
(R):5'- CCAAGGGTCTGTAAGAGTAAGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation