Incidental Mutation 'R6665:Lrif1'
| ID |
526926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrif1
|
| Ensembl Gene |
ENSMUSG00000056260 |
| Gene Name |
ligand dependent nuclear receptor interacting factor 1 |
| Synonyms |
4933421E11Rik, 2010012G17Rik |
| MMRRC Submission |
044785-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6665 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106592303-106643893 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 106642659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098750]
[ENSMUST00000098751]
[ENSMUST00000106736]
[ENSMUST00000127003]
[ENSMUST00000130105]
[ENSMUST00000154973]
[ENSMUST00000150513]
|
| AlphaFold |
Q8CDD9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000098750
|
| SMART Domains |
Protein: ENSMUSP00000096346
Gene: ENSMUSG00000056260
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRIF1
|
22 |
753 |
1.7e-292 |
PFAM |
|
| Predicted Effect |
probably null
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 null
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 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: 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: ENSMUST00000150513
|
| SMART Domains |
Protein: ENSMUSP00000119815
Gene: ENSMUSG00000056260
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
67 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
A |
G |
9: 30,815,775 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
T |
G |
13: 70,927,689 (GRCm39) |
K517Q |
probably damaging |
Het |
| Atp9b |
A |
C |
18: 80,960,950 (GRCm39) |
V87G |
probably benign |
Het |
| Avil |
A |
G |
10: 126,856,394 (GRCm39) |
K808E |
probably damaging |
Het |
| Bin2 |
T |
C |
15: 100,554,676 (GRCm39) |
E49G |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,508,092 (GRCm39) |
Y652C |
probably damaging |
Het |
| Cd6 |
T |
C |
19: 10,768,367 (GRCm39) |
N541D |
probably benign |
Het |
| Col28a1 |
A |
G |
6: 8,062,277 (GRCm39) |
V671A |
probably benign |
Het |
| Dock6 |
C |
T |
9: 21,751,208 (GRCm39) |
C355Y |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,183,205 (GRCm39) |
F71S |
probably damaging |
Het |
| Dusp8 |
G |
A |
7: 141,643,842 (GRCm39) |
P24S |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,107,098 (GRCm39) |
Y1151C |
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,823,078 (GRCm39) |
L659Q |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,562,077 (GRCm39) |
Y810C |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Hexb |
T |
C |
13: 97,315,893 (GRCm39) |
N380D |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,751,592 (GRCm39) |
E1498G |
possibly damaging |
Het |
| Myo9a |
G |
T |
9: 59,779,155 (GRCm39) |
G1637V |
probably benign |
Het |
| Myod1 |
A |
T |
7: 46,026,281 (GRCm39) |
H62L |
probably damaging |
Het |
| Myoz3 |
A |
C |
18: 60,709,495 (GRCm39) |
L222R |
probably damaging |
Het |
| Naca |
T |
A |
10: 127,884,227 (GRCm39) |
N2180K |
probably damaging |
Het |
| Or6c76 |
T |
C |
10: 129,612,116 (GRCm39) |
F111S |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,955,702 (GRCm39) |
V405A |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,603,914 (GRCm39) |
|
probably null |
Het |
| Rab32 |
T |
C |
10: 10,433,846 (GRCm39) |
|
probably benign |
Het |
| Serpinb10 |
A |
C |
1: 107,474,597 (GRCm39) |
N253T |
possibly damaging |
Het |
| Slc13a5 |
C |
T |
11: 72,151,186 (GRCm39) |
V131I |
probably damaging |
Het |
| Slc25a40 |
A |
G |
5: 8,502,788 (GRCm39) |
N290S |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,703,020 (GRCm39) |
V131A |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,600,604 (GRCm39) |
|
probably null |
Het |
| Stxbp2 |
A |
G |
8: 3,691,998 (GRCm39) |
M547V |
probably benign |
Het |
| Tmem247 |
A |
T |
17: 87,225,998 (GRCm39) |
Q146L |
probably benign |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,900 (GRCm39) |
I702V |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,355,636 (GRCm39) |
S436P |
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 |
|
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 |
|
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'- GGTCAGCATGGCTTTTAATACCC -3'
(R):5'- ACAGTGTTCTGCCTCAGTTC -3'
Sequencing Primer
(F):5'- CATGGCTTTTAATACCCAATTTAAGC -3'
(R):5'- GTTGGGAACTAGCAACATCAGTTCC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation