Incidental Mutation 'IGL01121:Lrif1'
| ID |
50764 |
| 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 # |
IGL01121
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
106592303-106643893 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 106642980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 177
(S177*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098750]
[ENSMUST00000098751]
[ENSMUST00000106736]
[ENSMUST00000127003]
[ENSMUST00000130105]
[ENSMUST00000150513]
[ENSMUST00000154973]
|
| AlphaFold |
Q8CDD9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000098750
AA Change: S695*
|
| SMART Domains |
Protein: ENSMUSP00000096346
Gene: ENSMUSG00000056260
AA Change: S695*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRIF1
|
22 |
753 |
1.7e-292 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098751
AA Change: S197*
|
| SMART Domains |
Protein: ENSMUSP00000096347
Gene: ENSMUSG00000056260
AA Change: S197*
| 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 null
Transcript: ENSMUST00000106736
AA Change: S177*
|
| SMART Domains |
Protein: ENSMUSP00000102347
Gene: ENSMUSG00000056260
AA Change: S177*
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700046A07Rik |
G |
A |
18: 62,888,219 (GRCm39) |
|
noncoding transcript |
Het |
| 4930432E11Rik |
A |
T |
7: 29,273,426 (GRCm39) |
|
noncoding transcript |
Het |
| Alg3 |
T |
C |
16: 20,429,397 (GRCm39) |
E31G |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,803,512 (GRCm39) |
E764G |
probably damaging |
Het |
| Atp5mf |
C |
A |
5: 145,121,378 (GRCm39) |
V68L |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,938,033 (GRCm39) |
I2645K |
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,950,058 (GRCm39) |
S369P |
probably benign |
Het |
| Car4 |
A |
T |
11: 84,855,172 (GRCm39) |
|
probably null |
Het |
| Ccdc185 |
C |
T |
1: 182,576,222 (GRCm39) |
V156I |
probably benign |
Het |
| Cpsf2 |
G |
T |
12: 101,954,965 (GRCm39) |
E245D |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,014,430 (GRCm39) |
D2019G |
probably benign |
Het |
| Dscc1 |
A |
G |
15: 54,945,721 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,765,244 (GRCm39) |
D490G |
probably benign |
Het |
| E2f8 |
G |
A |
7: 48,517,569 (GRCm39) |
Q745* |
probably null |
Het |
| Fat3 |
T |
A |
9: 15,909,697 (GRCm39) |
T2102S |
probably benign |
Het |
| Fgf7 |
C |
T |
2: 125,930,152 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
T |
C |
11: 52,705,464 (GRCm39) |
F47L |
probably benign |
Het |
| Gm15097 |
A |
T |
X: 148,587,324 (GRCm39) |
R129S |
possibly damaging |
Het |
| Gm4297 |
C |
T |
X: 24,418,854 (GRCm39) |
D200N |
probably benign |
Het |
| Itgb5 |
G |
T |
16: 33,740,359 (GRCm39) |
D490Y |
probably benign |
Het |
| Kansl1 |
A |
G |
11: 104,226,422 (GRCm39) |
S912P |
probably benign |
Het |
| Kcnq3 |
A |
T |
15: 65,877,826 (GRCm39) |
|
probably benign |
Het |
| Kctd6 |
A |
G |
14: 8,222,656 (GRCm38) |
H166R |
possibly damaging |
Het |
| Kel |
T |
C |
6: 41,679,343 (GRCm39) |
D140G |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,419,722 (GRCm39) |
C962* |
probably null |
Het |
| Lypd5 |
A |
T |
7: 24,050,976 (GRCm39) |
Y29F |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,952,928 (GRCm39) |
D403G |
possibly damaging |
Het |
| Nhsl1 |
T |
G |
10: 18,387,458 (GRCm39) |
V244G |
probably damaging |
Het |
| Or6c35 |
T |
C |
10: 129,168,804 (GRCm39) |
I18T |
probably benign |
Het |
| Ptprd |
A |
T |
4: 75,872,438 (GRCm39) |
|
probably benign |
Het |
| Rcan2 |
A |
T |
17: 44,328,775 (GRCm39) |
I69L |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,683,862 (GRCm39) |
L373P |
probably damaging |
Het |
| Slc10a4 |
T |
C |
5: 73,164,929 (GRCm39) |
C174R |
probably damaging |
Het |
| Tas2r134 |
C |
T |
2: 51,518,001 (GRCm39) |
T160I |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,054,404 (GRCm39) |
L464* |
probably null |
Het |
| Tmem45a2 |
C |
T |
16: 56,861,153 (GRCm39) |
D225N |
possibly damaging |
Het |
| Unc79 |
G |
A |
12: 103,131,890 (GRCm39) |
C2139Y |
probably damaging |
Het |
| Vmn2r101 |
G |
T |
17: 19,809,936 (GRCm39) |
G241C |
probably damaging |
Het |
| Vmn2r91 |
T |
C |
17: 18,356,766 (GRCm39) |
V811A |
possibly damaging |
Het |
| Wdr11 |
T |
C |
7: 129,229,746 (GRCm39) |
Y844H |
probably benign |
Het |
| Wdr70 |
T |
C |
15: 7,902,655 (GRCm39) |
K656E |
possibly damaging |
Het |
| Zfp579 |
C |
A |
7: 4,996,246 (GRCm39) |
C555F |
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 |
|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation