Incidental Mutation 'IGL01304:Lrif1'
| ID |
73364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.072)
|
| Stock # |
IGL01304
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
106592303-106643893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106639049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 20
(P20S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098750]
[ENSMUST00000098751]
[ENSMUST00000106736]
[ENSMUST00000127003]
[ENSMUST00000130105]
[ENSMUST00000154973]
[ENSMUST00000150513]
|
| AlphaFold |
Q8CDD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098750
AA Change: P45S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096346
Gene: ENSMUSG00000056260
AA Change: P45S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRIF1
|
22 |
753 |
1.7e-292 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098751
|
| SMART Domains |
Protein: ENSMUSP00000096347
Gene: ENSMUSG00000056260
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102347
Gene: ENSMUSG00000056260
| 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 damaging
Transcript: ENSMUST00000127003
AA Change: P45S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114163
Gene: ENSMUSG00000056260
AA Change: P45S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
92 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130105
AA Change: P20S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115110
Gene: ENSMUSG00000056260
AA Change: P20S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154973
AA Change: P20S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120350
Gene: ENSMUSG00000056260
AA Change: P20S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150513
AA Change: P20S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119815
Gene: ENSMUSG00000056260
AA Change: P20S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194058
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,204,153 (GRCm39) |
D79E |
probably benign |
Het |
| Aplf |
A |
C |
6: 87,618,882 (GRCm39) |
S421A |
possibly damaging |
Het |
| Arnt |
T |
G |
3: 95,355,696 (GRCm39) |
D13E |
probably damaging |
Het |
| Asap1 |
T |
C |
15: 64,184,298 (GRCm39) |
E45G |
probably damaging |
Het |
| C2cd2l |
T |
C |
9: 44,230,884 (GRCm39) |
N101S |
probably damaging |
Het |
| Cby2 |
T |
A |
14: 75,830,085 (GRCm39) |
D36V |
possibly damaging |
Het |
| Chmp7 |
G |
A |
14: 69,956,062 (GRCm39) |
P402L |
probably benign |
Het |
| Cir1 |
A |
T |
2: 73,118,068 (GRCm39) |
|
probably null |
Het |
| Clock |
A |
G |
5: 76,414,202 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
T |
G |
10: 76,911,975 (GRCm39) |
|
probably benign |
Het |
| Csf2ra |
G |
A |
19: 61,215,271 (GRCm39) |
H115Y |
possibly damaging |
Het |
| Cspg5 |
T |
A |
9: 110,085,236 (GRCm39) |
L469H |
probably damaging |
Het |
| Dapk2 |
T |
C |
9: 66,139,139 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
T |
C |
13: 37,172,852 (GRCm39) |
D176G |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,194,817 (GRCm39) |
E1448G |
probably damaging |
Het |
| Gtf2b |
C |
T |
3: 142,487,359 (GRCm39) |
S265L |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,498,675 (GRCm39) |
G4068D |
probably damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Ksr1 |
T |
C |
11: 78,918,468 (GRCm39) |
Q562R |
probably damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,453,588 (GRCm39) |
T1194A |
possibly damaging |
Het |
| Med18 |
C |
A |
4: 132,186,930 (GRCm39) |
A190S |
probably damaging |
Het |
| Mia2 |
G |
A |
12: 59,151,324 (GRCm39) |
E105K |
probably damaging |
Het |
| Mnt |
T |
A |
11: 74,733,011 (GRCm39) |
Y48N |
probably damaging |
Het |
| Mpp4 |
A |
C |
1: 59,188,678 (GRCm39) |
|
probably null |
Het |
| Or4b1b |
G |
A |
2: 90,112,425 (GRCm39) |
P165S |
possibly damaging |
Het |
| Popdc3 |
T |
G |
10: 45,194,005 (GRCm39) |
S269A |
probably benign |
Het |
| Ppp6r3 |
A |
T |
19: 3,517,261 (GRCm39) |
M662K |
probably damaging |
Het |
| Qser1 |
C |
A |
2: 104,617,976 (GRCm39) |
Q945H |
probably damaging |
Het |
| Rad52 |
A |
G |
6: 119,895,594 (GRCm39) |
E198G |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,216,147 (GRCm39) |
V867A |
possibly damaging |
Het |
| Rdh16 |
G |
T |
10: 127,649,365 (GRCm39) |
A274S |
probably benign |
Het |
| Slco1a5 |
G |
T |
6: 142,187,876 (GRCm39) |
Q488K |
probably benign |
Het |
| Snai2 |
T |
C |
16: 14,524,635 (GRCm39) |
I47T |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,500,685 (GRCm39) |
D358G |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,404,841 (GRCm39) |
F2878L |
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,902,771 (GRCm39) |
Y1386C |
probably damaging |
Het |
| Tgfb2 |
A |
C |
1: 186,357,670 (GRCm39) |
I435S |
probably damaging |
Het |
| Ttc9b |
G |
A |
7: 27,355,410 (GRCm39) |
D227N |
probably benign |
Het |
| Txndc2 |
T |
C |
17: 65,945,448 (GRCm39) |
E243G |
possibly damaging |
Het |
| Usp28 |
A |
G |
9: 48,938,119 (GRCm39) |
D563G |
probably damaging |
Het |
| Vmn1r77 |
T |
C |
7: 11,775,962 (GRCm39) |
V178A |
probably damaging |
Het |
| Zfp316 |
A |
G |
5: 143,240,181 (GRCm39) |
F613L |
probably benign |
Het |
| Zfp870 |
A |
T |
17: 33,101,980 (GRCm39) |
C450S |
possibly damaging |
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 |
|
|
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 |
|
IGL02796:Lrif1
|
UTSW |
3 |
106,642,752 (GRCm39) |
missense |
probably benign |
0.25 |
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation