Incidental Mutation 'R9001:Lrif1'
| ID |
684956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrif1
|
| Ensembl Gene |
ENSMUSG00000056260 |
| Gene Name |
ligand dependent nuclear receptor interacting factor 1 |
| Synonyms |
4933421E11Rik, 2010012G17Rik |
| MMRRC Submission |
068832-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R9001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106592303-106643893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106641860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 59
(S59G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098750]
[ENSMUST00000098751]
[ENSMUST00000106736]
[ENSMUST00000127003]
[ENSMUST00000130105]
[ENSMUST00000150513]
[ENSMUST00000154973]
|
| AlphaFold |
Q8CDD9 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000096346
Gene: ENSMUSG00000056260
AA Change: S577G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRIF1
|
22 |
753 |
1.7e-292 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098751
AA Change: S79G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000096347
Gene: ENSMUSG00000056260
AA Change: S79G
| 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
AA Change: S59G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102347
Gene: ENSMUSG00000056260
AA Change: S59G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
97 |
N/A |
INTRINSIC |
|
coiled coil region
|
205 |
237 |
N/A |
INTRINSIC |
|
| 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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
T |
C |
12: 110,637,176 (GRCm39) |
R26G |
probably damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,462 (GRCm39) |
N439S |
probably damaging |
Het |
| Arfgef3 |
C |
T |
10: 18,522,476 (GRCm39) |
E517K |
probably benign |
Het |
| Arhgap29 |
A |
T |
3: 121,775,523 (GRCm39) |
I89L |
probably benign |
Het |
| Btbd3 |
G |
A |
2: 138,122,296 (GRCm39) |
V149I |
possibly damaging |
Het |
| Chst5 |
T |
A |
8: 112,616,534 (GRCm39) |
H362L |
probably benign |
Het |
| Cmtm2a |
A |
G |
8: 105,019,376 (GRCm39) |
V71A |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,944,370 (GRCm39) |
I1035F |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,308,079 (GRCm39) |
V1279A |
|
Het |
| Csmd3 |
A |
T |
15: 47,596,901 (GRCm39) |
V1068E |
|
Het |
| Ddx50 |
T |
C |
10: 62,475,728 (GRCm39) |
Y331C |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,916,623 (GRCm39) |
Y631H |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,852,515 (GRCm39) |
G1915S |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,436,374 (GRCm39) |
*2463W |
probably null |
Het |
| Dst |
G |
T |
1: 34,213,292 (GRCm39) |
V1395F |
possibly damaging |
Het |
| Dzip1l |
T |
C |
9: 99,523,907 (GRCm39) |
|
probably null |
Het |
| Eef1akmt3 |
T |
C |
10: 126,877,232 (GRCm39) |
E11G |
probably benign |
Het |
| Elfn2 |
A |
G |
15: 78,557,438 (GRCm39) |
F370L |
probably benign |
Het |
| Enam |
T |
A |
5: 88,637,388 (GRCm39) |
F104Y |
probably benign |
Het |
| Esd |
A |
G |
14: 74,983,123 (GRCm39) |
E258G |
probably benign |
Het |
| Fam181b |
G |
A |
7: 92,730,356 (GRCm39) |
A377T |
unknown |
Het |
| Gabrr3 |
A |
G |
16: 59,282,008 (GRCm39) |
I454M |
probably benign |
Het |
| Ggt5 |
T |
A |
10: 75,445,992 (GRCm39) |
V462D |
probably benign |
Het |
| Gm3250 |
T |
C |
10: 77,618,178 (GRCm39) |
S67G |
unknown |
Het |
| Grn |
A |
T |
11: 102,327,497 (GRCm39) |
Y286F |
|
Het |
| Gulp1 |
A |
G |
1: 44,827,709 (GRCm39) |
I284V |
probably benign |
Het |
| Ilf2 |
A |
G |
3: 90,390,108 (GRCm39) |
N140S |
probably benign |
Het |
| Ints4 |
C |
A |
7: 97,190,276 (GRCm39) |
P925Q |
possibly damaging |
Het |
| Khdc1b |
A |
G |
1: 21,454,560 (GRCm39) |
N88D |
possibly damaging |
Het |
| Kif15 |
T |
G |
9: 122,826,855 (GRCm39) |
C798G |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,910,409 (GRCm39) |
V285E |
probably damaging |
Het |
| Mpdz |
A |
G |
4: 81,299,999 (GRCm39) |
M333T |
probably benign |
Het |
| Mrm3 |
A |
G |
11: 76,141,234 (GRCm39) |
D414G |
probably benign |
Het |
| Msantd5f3 |
A |
T |
4: 73,575,280 (GRCm39) |
R320* |
probably null |
Het |
| Mtpap |
A |
G |
18: 4,380,831 (GRCm39) |
N170D |
probably benign |
Het |
| Nelfb |
C |
A |
2: 25,096,287 (GRCm39) |
R274L |
probably damaging |
Het |
| Or56a3b |
T |
G |
7: 104,771,447 (GRCm39) |
V261G |
probably damaging |
Het |
| Pkm |
A |
G |
9: 59,572,626 (GRCm39) |
N44S |
probably benign |
Het |
| Rel |
T |
C |
11: 23,698,855 (GRCm39) |
D144G |
probably damaging |
Het |
| Scgb2b21 |
A |
T |
7: 33,218,956 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
T |
A |
13: 33,277,743 (GRCm39) |
D325E |
probably benign |
Het |
| Slco4c1 |
A |
G |
1: 96,748,956 (GRCm39) |
C654R |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,291,798 (GRCm39) |
K143R |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,235,529 (GRCm39) |
H2034Y |
unknown |
Het |
| Thbs2 |
T |
C |
17: 14,889,007 (GRCm39) |
D1164G |
probably damaging |
Het |
| Tnfrsf10b |
T |
C |
14: 70,015,250 (GRCm39) |
S243P |
possibly damaging |
Het |
| Tnxb |
T |
A |
17: 34,922,410 (GRCm39) |
S2408T |
probably benign |
Het |
| Topors |
A |
T |
4: 40,261,696 (GRCm39) |
D529E |
possibly damaging |
Het |
| Trmt5 |
T |
C |
12: 73,331,643 (GRCm39) |
M138V |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,104,104 (GRCm39) |
I242M |
possibly damaging |
Het |
| Zfp523 |
A |
G |
17: 28,408,915 (GRCm39) |
Q21R |
possibly damaging |
Het |
| Zfp646 |
T |
A |
7: 127,478,856 (GRCm39) |
N344K |
probably 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 |
|
|
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 |
|
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'- CGCAGTATGAGATGGCATCAATAG -3'
(R):5'- ACGTGAGATATCTGCAAATTTGGC -3'
Sequencing Primer
(F):5'- AGGCATCATGTCTGAAGA -3'
(R):5'- TCTGCAAATTTGGCAAAAACCATC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation