Incidental Mutation 'IGL02209:Lrif1'
ID |
284640 |
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: 0.067)
|
Stock # |
IGL02209
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
106592303-106643893 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 106639045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 18
(L18F)
|
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: L43F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096346 Gene: ENSMUSG00000056260 AA Change: L43F
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: L43F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114163 Gene: ENSMUSG00000056260 AA Change: L43F
Domain | Start | End | E-Value | Type |
low complexity region
|
74 |
92 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130105
AA Change: L18F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115110 Gene: ENSMUSG00000056260 AA Change: L18F
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
67 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154973
AA Change: L18F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120350 Gene: ENSMUSG00000056260 AA Change: L18F
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
67 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150513
AA Change: L18F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119815 Gene: ENSMUSG00000056260 AA Change: L18F
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: ENSMUST00000194058
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150888
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
C |
T |
17: 36,274,901 (GRCm39) |
R82Q |
probably damaging |
Het |
Acmsd |
A |
G |
1: 127,687,492 (GRCm39) |
Y258C |
probably damaging |
Het |
Anapc5 |
A |
G |
5: 122,938,676 (GRCm39) |
I366T |
possibly damaging |
Het |
Crkl |
C |
T |
16: 17,287,098 (GRCm39) |
T218I |
probably benign |
Het |
Egf |
A |
T |
3: 129,500,956 (GRCm39) |
I213K |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,360,491 (GRCm39) |
T33A |
probably benign |
Het |
Garnl3 |
T |
C |
2: 32,975,942 (GRCm39) |
D93G |
probably damaging |
Het |
Hook3 |
C |
T |
8: 26,560,293 (GRCm39) |
D311N |
probably damaging |
Het |
Iglv3 |
T |
C |
16: 19,060,420 (GRCm39) |
T4A |
probably benign |
Het |
Kctd17 |
A |
G |
15: 78,319,792 (GRCm39) |
N70S |
probably damaging |
Het |
Kmt2d |
T |
C |
15: 98,752,448 (GRCm39) |
|
probably benign |
Het |
Mfsd1 |
A |
G |
3: 67,505,465 (GRCm39) |
|
probably benign |
Het |
Msh4 |
A |
G |
3: 153,594,499 (GRCm39) |
Y101H |
probably damaging |
Het |
Mycbpap |
G |
A |
11: 94,400,708 (GRCm39) |
|
probably benign |
Het |
Myt1 |
A |
G |
2: 181,439,027 (GRCm39) |
D183G |
probably benign |
Het |
Nppc |
T |
C |
1: 86,597,387 (GRCm39) |
*127W |
probably null |
Het |
Or10al3 |
G |
A |
17: 38,011,883 (GRCm39) |
M107I |
probably damaging |
Het |
Or1ak2 |
C |
T |
2: 36,827,517 (GRCm39) |
P129S |
probably damaging |
Het |
Or2n1e |
A |
G |
17: 38,586,123 (GRCm39) |
I154V |
probably benign |
Het |
Or51i2 |
T |
G |
7: 103,689,663 (GRCm39) |
L220R |
probably damaging |
Het |
Or8b3b |
T |
C |
9: 38,584,342 (GRCm39) |
K146E |
possibly damaging |
Het |
Pde5a |
A |
G |
3: 122,618,664 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,365,296 (GRCm39) |
V1139A |
probably damaging |
Het |
Pwwp2b |
G |
A |
7: 138,835,021 (GRCm39) |
R154Q |
probably damaging |
Het |
Satb2 |
C |
T |
1: 56,910,677 (GRCm39) |
V264I |
probably damaging |
Het |
Slc6a2 |
T |
A |
8: 93,720,688 (GRCm39) |
F435Y |
probably benign |
Het |
Stmn2 |
T |
C |
3: 8,625,321 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
G |
16: 90,784,307 (GRCm39) |
I277T |
probably damaging |
Het |
Trio |
C |
T |
15: 27,744,139 (GRCm39) |
A2598T |
probably damaging |
Het |
Tshz2 |
G |
A |
2: 169,726,684 (GRCm39) |
V427M |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,559,039 (GRCm39) |
S1405P |
probably damaging |
Het |
Vmn1r173 |
G |
A |
7: 23,402,586 (GRCm39) |
V274I |
probably benign |
Het |
Vmn2r116 |
T |
C |
17: 23,607,761 (GRCm39) |
F443S |
probably damaging |
Het |
Vps13d |
C |
A |
4: 144,882,671 (GRCm39) |
R974L |
probably damaging |
Het |
Wapl |
T |
A |
14: 34,399,218 (GRCm39) |
S96T |
possibly damaging |
Het |
Zfp516 |
A |
G |
18: 83,012,622 (GRCm39) |
D1125G |
probably benign |
Het |
Zfp692 |
C |
T |
11: 58,204,824 (GRCm39) |
R395* |
probably null |
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 |
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 |
2015-04-16 |