Incidental Mutation 'IGL02801:Lrif1'
ID |
360212 |
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 # |
IGL02801
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
106592303-106643893 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106641930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 102
(V102A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096347
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098750]
[ENSMUST00000098751]
[ENSMUST00000106736]
[ENSMUST00000127003]
[ENSMUST00000154973]
[ENSMUST00000130105]
[ENSMUST00000150513]
|
AlphaFold |
Q8CDD9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098750
AA Change: V600A
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000096346 Gene: ENSMUSG00000056260 AA Change: V600A
Domain | Start | End | E-Value | Type |
Pfam:LRIF1
|
22 |
753 |
1.7e-292 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098751
AA Change: V102A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000096347 Gene: ENSMUSG00000056260 AA Change: V102A
Domain | Start | End | E-Value | Type |
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
coiled coil region
|
225 |
257 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106736
AA Change: V82A
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102347 Gene: ENSMUSG00000056260 AA Change: V82A
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 |
noncoding transcript
Transcript: ENSMUST00000194058
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156544
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150888
|
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 |
|
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 |
probably benign
Transcript: ENSMUST00000150513
|
SMART Domains |
Protein: ENSMUSP00000119815 Gene: ENSMUSG00000056260
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
67 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap5 |
A |
T |
12: 76,375,769 (GRCm39) |
K400N |
probably benign |
Het |
Aox1 |
A |
T |
1: 58,393,336 (GRCm39) |
I1193F |
probably damaging |
Het |
Arhgef16 |
A |
T |
4: 154,375,964 (GRCm39) |
L10Q |
probably damaging |
Het |
Arl10 |
T |
C |
13: 54,723,696 (GRCm39) |
V106A |
probably benign |
Het |
Bmi1 |
T |
C |
2: 18,686,692 (GRCm39) |
Y24H |
probably damaging |
Het |
Cd163 |
T |
A |
6: 124,297,488 (GRCm39) |
I878K |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,515,696 (GRCm39) |
|
probably null |
Het |
Csmd2 |
T |
C |
4: 128,445,868 (GRCm39) |
|
probably null |
Het |
Dcp2 |
G |
T |
18: 44,550,778 (GRCm39) |
M417I |
probably damaging |
Het |
Ddx11 |
T |
A |
17: 66,455,028 (GRCm39) |
C662S |
probably benign |
Het |
Dhx29 |
G |
A |
13: 113,101,180 (GRCm39) |
C1241Y |
probably damaging |
Het |
Dnajc6 |
C |
T |
4: 101,455,010 (GRCm39) |
P37L |
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,037,476 (GRCm39) |
|
probably null |
Het |
Dzip1 |
T |
A |
14: 119,123,067 (GRCm39) |
K643* |
probably null |
Het |
Ecel1 |
A |
G |
1: 87,079,725 (GRCm39) |
S463P |
probably damaging |
Het |
Eml5 |
A |
G |
12: 98,784,104 (GRCm39) |
V1361A |
possibly damaging |
Het |
Fads2 |
C |
A |
19: 10,060,009 (GRCm39) |
A222S |
possibly damaging |
Het |
Fancd2 |
A |
G |
6: 113,570,278 (GRCm39) |
N1410D |
probably benign |
Het |
Fbxw16 |
A |
G |
9: 109,270,144 (GRCm39) |
F199S |
possibly damaging |
Het |
Frem2 |
A |
G |
3: 53,559,596 (GRCm39) |
V1637A |
possibly damaging |
Het |
Gabrg2 |
A |
G |
11: 41,803,220 (GRCm39) |
S442P |
probably damaging |
Het |
Gprin3 |
T |
C |
6: 59,331,966 (GRCm39) |
T114A |
possibly damaging |
Het |
Hoxd8 |
A |
G |
2: 74,536,912 (GRCm39) |
E27G |
probably damaging |
Het |
Isl2 |
A |
G |
9: 55,452,816 (GRCm39) |
|
probably null |
Het |
Lamc2 |
T |
A |
1: 153,012,529 (GRCm39) |
H715L |
probably benign |
Het |
Lrrc39 |
A |
G |
3: 116,371,995 (GRCm39) |
N254S |
possibly damaging |
Het |
Med13l |
T |
C |
5: 118,883,178 (GRCm39) |
W1346R |
probably damaging |
Het |
Melk |
T |
C |
4: 44,360,930 (GRCm39) |
I570T |
probably damaging |
Het |
Mlkl |
G |
A |
8: 112,043,064 (GRCm39) |
T361M |
probably benign |
Het |
Myo1f |
T |
A |
17: 33,797,111 (GRCm39) |
M94K |
probably damaging |
Het |
Naip1 |
A |
G |
13: 100,580,876 (GRCm39) |
C124R |
probably damaging |
Het |
Nek1 |
G |
A |
8: 61,574,095 (GRCm39) |
|
probably null |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Pde1c |
G |
T |
6: 56,150,651 (GRCm39) |
N289K |
probably damaging |
Het |
Pfas |
G |
A |
11: 68,879,103 (GRCm39) |
|
probably benign |
Het |
Pms2 |
A |
T |
5: 143,862,653 (GRCm39) |
I587F |
probably benign |
Het |
Ppargc1b |
T |
C |
18: 61,440,755 (GRCm39) |
E721G |
possibly damaging |
Het |
Ppp2r1b |
A |
G |
9: 50,790,127 (GRCm39) |
I435V |
probably benign |
Het |
Psip1 |
C |
T |
4: 83,376,357 (GRCm39) |
S494N |
probably benign |
Het |
Ranbp3 |
T |
C |
17: 57,017,766 (GRCm39) |
V474A |
probably benign |
Het |
Rnf220 |
C |
T |
4: 117,130,448 (GRCm39) |
C259Y |
probably damaging |
Het |
Sdr16c6 |
T |
C |
4: 4,076,603 (GRCm39) |
I99V |
probably benign |
Het |
Slc36a1 |
A |
T |
11: 55,116,879 (GRCm39) |
I303F |
probably benign |
Het |
Slc4a1 |
C |
T |
11: 102,249,972 (GRCm39) |
|
probably null |
Het |
Syncrip |
A |
T |
9: 88,361,862 (GRCm39) |
D84E |
probably damaging |
Het |
Tbc1d9b |
T |
C |
11: 50,043,657 (GRCm39) |
Y593H |
probably damaging |
Het |
Tenm2 |
G |
T |
11: 35,937,857 (GRCm39) |
Y1605* |
probably null |
Het |
Tmem135 |
T |
A |
7: 88,803,333 (GRCm39) |
H280L |
probably benign |
Het |
Tmem229a |
T |
A |
6: 24,955,121 (GRCm39) |
Q211L |
probably benign |
Het |
Txlna |
T |
C |
4: 129,534,201 (GRCm39) |
D5G |
probably damaging |
Het |
Vmn2r57 |
T |
C |
7: 41,098,056 (GRCm39) |
I4V |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,055,453 (GRCm39) |
L1539S |
probably damaging |
Het |
Zdhhc14 |
T |
G |
17: 5,777,094 (GRCm39) |
|
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 |
IGL02209:Lrif1
|
APN |
3 |
106,639,045 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-12-18 |