Incidental Mutation 'IGL02796:Lrif1'
ID |
392013 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrif1
|
Ensembl Gene |
ENSMUSG00000056260 |
Gene Name |
ligand dependent nuclear receptor interacting factor 1 |
Synonyms |
4933421E11Rik, 2010012G17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
IGL02796 (G1)
|
Quality Score |
52 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
106592303-106643893 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106642752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 619
(M619K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098750]
[ENSMUST00000098751]
[ENSMUST00000106736]
[ENSMUST00000127003]
[ENSMUST00000130105]
[ENSMUST00000150513]
[ENSMUST00000154973]
|
AlphaFold |
Q8CDD9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098750
AA Change: M619K
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000096346 Gene: ENSMUSG00000056260 AA Change: M619K
Domain | Start | End | E-Value | Type |
Pfam:LRIF1
|
22 |
753 |
1.7e-292 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098751
AA Change: M121K
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000096347 Gene: ENSMUSG00000056260 AA Change: M121K
Domain | Start | End | E-Value | Type |
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
coiled coil region
|
225 |
257 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106736
AA Change: M101K
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000102347 Gene: ENSMUSG00000056260 AA Change: M101K
Domain | Start | End | E-Value | Type |
low complexity region
|
84 |
97 |
N/A |
INTRINSIC |
coiled coil region
|
205 |
237 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106737
|
SMART Domains |
Protein: ENSMUSP00000102348 Gene: ENSMUSG00000056260
Domain | Start | End | E-Value | Type |
Pfam:LRIF1
|
22 |
347 |
6.2e-145 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122928
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127003
|
SMART Domains |
Protein: ENSMUSP00000114163 Gene: ENSMUSG00000056260
Domain | Start | End | E-Value | Type |
low complexity region
|
74 |
92 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130105
|
SMART Domains |
Protein: ENSMUSP00000115110 Gene: ENSMUSG00000056260
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
67 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156544
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150513
|
SMART Domains |
Protein: ENSMUSP00000119815 Gene: ENSMUSG00000056260
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
67 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154973
|
SMART Domains |
Protein: ENSMUSP00000120350 Gene: ENSMUSG00000056260
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
67 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl5 |
A |
T |
19: 55,266,601 (GRCm39) |
K86* |
probably null |
Het |
Ambp |
C |
A |
4: 63,072,169 (GRCm39) |
|
probably benign |
Het |
Atp6v0d2 |
A |
T |
4: 19,887,324 (GRCm39) |
M208K |
probably damaging |
Het |
Brinp1 |
C |
G |
4: 68,680,427 (GRCm39) |
R701P |
probably damaging |
Het |
Btnl9 |
T |
C |
11: 49,060,008 (GRCm39) |
D580G |
probably damaging |
Het |
Cand1 |
A |
T |
10: 119,049,543 (GRCm39) |
L401H |
probably damaging |
Het |
Ccdc66 |
T |
C |
14: 27,208,523 (GRCm39) |
E577G |
possibly damaging |
Het |
Ccdc93 |
C |
A |
1: 121,418,895 (GRCm39) |
D483E |
probably damaging |
Het |
Cd38 |
T |
C |
5: 44,063,555 (GRCm39) |
L216P |
probably damaging |
Het |
Cdr1 |
C |
T |
X: 60,228,087 (GRCm39) |
D360N |
possibly damaging |
Het |
Cibar2 |
C |
T |
8: 120,904,138 (GRCm39) |
|
probably benign |
Het |
Col9a3 |
G |
T |
2: 180,255,955 (GRCm39) |
D443Y |
probably damaging |
Het |
Cpt1b |
C |
T |
15: 89,309,005 (GRCm39) |
V66I |
probably benign |
Het |
Cyp8b1 |
T |
A |
9: 121,744,564 (GRCm39) |
Y256F |
probably benign |
Het |
Dennd10 |
A |
G |
19: 60,806,081 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
A |
G |
6: 5,757,385 (GRCm39) |
N48S |
probably benign |
Het |
Ehd3 |
T |
A |
17: 74,123,396 (GRCm39) |
L133Q |
probably damaging |
Het |
Eif6 |
C |
A |
2: 155,668,068 (GRCm39) |
R57L |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,800,576 (GRCm39) |
|
probably benign |
Het |
Fgl1 |
C |
T |
8: 41,650,095 (GRCm39) |
A229T |
probably benign |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Gdf7 |
A |
T |
12: 8,351,666 (GRCm39) |
S90T |
unknown |
Het |
Ggta1 |
T |
C |
2: 35,303,329 (GRCm39) |
|
probably benign |
Het |
Gm44859 |
C |
T |
19: 12,014,112 (GRCm39) |
|
probably benign |
Het |
Grin2a |
T |
C |
16: 9,402,972 (GRCm39) |
E838G |
possibly damaging |
Het |
Grin2c |
A |
G |
11: 115,141,543 (GRCm39) |
|
probably benign |
Het |
Grm1 |
T |
C |
10: 10,565,411 (GRCm39) |
T966A |
probably benign |
Het |
Gtpbp1 |
A |
G |
15: 79,601,186 (GRCm39) |
I468M |
possibly damaging |
Het |
Gucy1b2 |
G |
A |
14: 62,645,143 (GRCm39) |
P639S |
probably benign |
Het |
Hat1 |
T |
C |
2: 71,250,700 (GRCm39) |
|
probably null |
Het |
Hira |
A |
T |
16: 18,744,404 (GRCm39) |
I374F |
probably benign |
Het |
Htt |
C |
A |
5: 35,034,826 (GRCm39) |
Q2024K |
probably benign |
Het |
Kcnj6 |
A |
G |
16: 94,633,778 (GRCm39) |
M111T |
probably benign |
Het |
Loxhd1 |
T |
A |
18: 77,456,811 (GRCm39) |
|
probably benign |
Het |
Lrrc8b |
G |
A |
5: 105,629,211 (GRCm39) |
G519D |
probably damaging |
Het |
Map3k7 |
A |
G |
4: 31,979,692 (GRCm39) |
|
probably benign |
Het |
Or2ah1 |
T |
C |
2: 85,653,933 (GRCm39) |
I206T |
probably benign |
Het |
Or4d6 |
T |
A |
19: 12,086,248 (GRCm39) |
I221F |
possibly damaging |
Het |
P2ry12 |
T |
C |
3: 59,125,302 (GRCm39) |
I124M |
probably damaging |
Het |
Paxbp1 |
A |
G |
16: 90,822,182 (GRCm39) |
|
probably benign |
Het |
Polb |
A |
T |
8: 23,121,474 (GRCm39) |
I257N |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,295,875 (GRCm39) |
V190E |
probably benign |
Het |
Rabgap1 |
T |
A |
2: 37,362,318 (GRCm39) |
N54K |
probably damaging |
Het |
Sacm1l |
T |
A |
9: 123,377,989 (GRCm39) |
W90R |
possibly damaging |
Het |
Snrpb2 |
A |
T |
2: 142,906,487 (GRCm39) |
M1L |
probably benign |
Het |
Spata31d1d |
A |
G |
13: 59,876,057 (GRCm39) |
Y493H |
possibly damaging |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Spocd1 |
A |
G |
4: 129,841,548 (GRCm39) |
|
probably benign |
Het |
Tbc1d5 |
G |
T |
17: 51,273,652 (GRCm39) |
H123Q |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,608,445 (GRCm39) |
N17826S |
probably damaging |
Het |
Tubgcp6 |
A |
G |
15: 89,006,593 (GRCm39) |
I143T |
probably benign |
Het |
Usp48 |
A |
G |
4: 137,338,029 (GRCm39) |
Y268C |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,464,599 (GRCm39) |
V1586M |
probably damaging |
Het |
Zfp146 |
C |
T |
7: 29,861,983 (GRCm39) |
V20I |
probably benign |
Het |
Zfp263 |
G |
A |
16: 3,564,740 (GRCm39) |
E252K |
probably benign |
Het |
|
Other mutations in Lrif1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00870:Lrif1
|
APN |
3 |
106,641,957 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01121:Lrif1
|
APN |
3 |
106,642,980 (GRCm39) |
nonsense |
probably null |
|
IGL01304:Lrif1
|
APN |
3 |
106,639,049 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02209:Lrif1
|
APN |
3 |
106,639,045 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02801:Lrif1
|
APN |
3 |
106,641,930 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0440:Lrif1
|
UTSW |
3 |
106,641,714 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0456:Lrif1
|
UTSW |
3 |
106,639,094 (GRCm39) |
missense |
probably benign |
0.06 |
R0561:Lrif1
|
UTSW |
3 |
106,639,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R1160:Lrif1
|
UTSW |
3 |
106,640,033 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1720:Lrif1
|
UTSW |
3 |
106,640,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R1735:Lrif1
|
UTSW |
3 |
106,643,162 (GRCm39) |
makesense |
probably null |
|
R1843:Lrif1
|
UTSW |
3 |
106,640,127 (GRCm39) |
missense |
probably damaging |
0.99 |
R2016:Lrif1
|
UTSW |
3 |
106,639,522 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2200:Lrif1
|
UTSW |
3 |
106,641,874 (GRCm39) |
missense |
probably damaging |
0.98 |
R3619:Lrif1
|
UTSW |
3 |
106,639,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R4750:Lrif1
|
UTSW |
3 |
106,642,880 (GRCm39) |
missense |
probably benign |
0.33 |
R4878:Lrif1
|
UTSW |
3 |
106,642,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R4945:Lrif1
|
UTSW |
3 |
106,643,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R5286:Lrif1
|
UTSW |
3 |
106,639,859 (GRCm39) |
missense |
probably damaging |
0.97 |
R5682:Lrif1
|
UTSW |
3 |
106,639,884 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6149:Lrif1
|
UTSW |
3 |
106,639,643 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6665:Lrif1
|
UTSW |
3 |
106,642,659 (GRCm39) |
splice site |
probably null |
|
R7011:Lrif1
|
UTSW |
3 |
106,639,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R7584:Lrif1
|
UTSW |
3 |
106,639,217 (GRCm39) |
missense |
probably benign |
0.32 |
R7869:Lrif1
|
UTSW |
3 |
106,640,459 (GRCm39) |
critical splice donor site |
probably null |
|
R8247:Lrif1
|
UTSW |
3 |
106,641,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R8686:Lrif1
|
UTSW |
3 |
106,640,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R9001:Lrif1
|
UTSW |
3 |
106,641,860 (GRCm39) |
missense |
probably benign |
0.00 |
R9347:Lrif1
|
UTSW |
3 |
106,641,674 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9612:Lrif1
|
UTSW |
3 |
106,639,200 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Lrif1
|
UTSW |
3 |
106,639,886 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTTCTCCAAGACTATGATTGTGAC -3'
(R):5'- GAACAGTGTTCTGCCTCAGTTC -3'
Sequencing Primer
(F):5'- CTCCAAGACTATGATTGTGACTTTTC -3'
(R):5'- ACAGTGTTCTGCCTCAGTTCTCTTG -3'
|
Posted On |
2016-06-08 |