Incidental Mutation 'IGL01141:Lrrfip2'
ID |
52001 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrfip2
|
Ensembl Gene |
ENSMUSG00000032497 |
Gene Name |
leucine rich repeat (in FLII) interacting protein 2 |
Synonyms |
5133400F20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
IGL01141
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
110946660-111054736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 111048783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 311
(R311W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143322
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035078]
[ENSMUST00000098340]
[ENSMUST00000196981]
[ENSMUST00000197241]
[ENSMUST00000197256]
[ENSMUST00000217341]
[ENSMUST00000217117]
[ENSMUST00000216430]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035078
AA Change: R289W
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000035078 Gene: ENSMUSG00000032497 AA Change: R289W
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
340 |
2.5e-106 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098340
AA Change: R274W
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000095944 Gene: ENSMUSG00000032497 AA Change: R274W
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
326 |
2.7e-122 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196906
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196981
AA Change: R298W
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142851 Gene: ENSMUSG00000032497 AA Change: R298W
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
350 |
4.5e-113 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197241
AA Change: R289W
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142816 Gene: ENSMUSG00000032497 AA Change: R289W
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
341 |
1.3e-119 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197256
AA Change: R311W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000143322 Gene: ENSMUSG00000032497 AA Change: R311W
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
363 |
2.9e-115 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199711
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197540
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217341
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217117
AA Change: R247W
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216430
AA Change: R277W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
T |
11: 109,828,556 (GRCm39) |
D1447E |
probably damaging |
Het |
Atp2a3 |
T |
C |
11: 72,873,491 (GRCm39) |
I788T |
probably damaging |
Het |
Axin1 |
G |
A |
17: 26,409,015 (GRCm39) |
E672K |
probably damaging |
Het |
Ccno |
A |
G |
13: 113,125,561 (GRCm39) |
D175G |
probably damaging |
Het |
Cep83 |
C |
A |
10: 94,624,619 (GRCm39) |
T632K |
probably benign |
Het |
Ckmt1 |
A |
T |
2: 121,193,474 (GRCm39) |
I345F |
probably benign |
Het |
Cntnap1 |
G |
A |
11: 101,069,633 (GRCm39) |
|
probably benign |
Het |
Cstdc3 |
A |
G |
16: 36,128,426 (GRCm39) |
E7G |
probably benign |
Het |
Edem2 |
A |
G |
2: 155,550,948 (GRCm39) |
Y340H |
probably benign |
Het |
Erich3 |
A |
G |
3: 154,419,653 (GRCm39) |
K249R |
probably benign |
Het |
Fndc9 |
T |
C |
11: 46,128,526 (GRCm39) |
I15T |
probably benign |
Het |
Grip2 |
G |
T |
6: 91,759,878 (GRCm39) |
Q300K |
probably benign |
Het |
Herc2 |
T |
C |
7: 55,862,589 (GRCm39) |
V4050A |
possibly damaging |
Het |
Jup |
A |
T |
11: 100,277,075 (GRCm39) |
D44E |
probably benign |
Het |
Lingo3 |
G |
T |
10: 80,671,147 (GRCm39) |
P261Q |
probably damaging |
Het |
Mansc1 |
C |
A |
6: 134,598,748 (GRCm39) |
L56F |
probably benign |
Het |
Map1b |
A |
G |
13: 99,571,269 (GRCm39) |
I484T |
probably damaging |
Het |
Mpeg1 |
T |
A |
19: 12,440,149 (GRCm39) |
F536I |
probably damaging |
Het |
Mrgprb1 |
T |
G |
7: 48,097,775 (GRCm39) |
T46P |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,847,458 (GRCm39) |
N612S |
probably benign |
Het |
Or5p56 |
T |
C |
7: 107,589,758 (GRCm39) |
F62S |
probably damaging |
Het |
Or6c212 |
T |
A |
10: 129,558,814 (GRCm39) |
I200L |
probably benign |
Het |
Pax8 |
A |
G |
2: 24,331,162 (GRCm39) |
S178P |
probably damaging |
Het |
Peak1 |
A |
G |
9: 56,165,811 (GRCm39) |
F706L |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,544,568 (GRCm39) |
T1853A |
probably damaging |
Het |
Reln |
A |
C |
5: 22,174,031 (GRCm39) |
F2024C |
probably damaging |
Het |
Reln |
G |
T |
5: 22,124,067 (GRCm39) |
P2813Q |
probably damaging |
Het |
Riox1 |
A |
G |
12: 83,998,568 (GRCm39) |
Q368R |
probably damaging |
Het |
Rspry1 |
T |
C |
8: 95,376,483 (GRCm39) |
V335A |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,325,457 (GRCm39) |
N1020S |
possibly damaging |
Het |
Scyl2 |
A |
G |
10: 89,476,497 (GRCm39) |
V876A |
probably benign |
Het |
Sdhaf3 |
T |
A |
6: 6,956,141 (GRCm39) |
F39I |
probably damaging |
Het |
Sfxn4 |
T |
C |
19: 60,839,452 (GRCm39) |
E202G |
possibly damaging |
Het |
Slc1a4 |
A |
T |
11: 20,258,644 (GRCm39) |
|
probably benign |
Het |
Sln |
A |
G |
9: 53,760,784 (GRCm39) |
I10V |
probably benign |
Het |
Ssh2 |
A |
G |
11: 77,340,552 (GRCm39) |
E568G |
probably damaging |
Het |
Supt7l |
G |
A |
5: 31,675,779 (GRCm39) |
P270S |
probably benign |
Het |
Tanc2 |
A |
G |
11: 105,777,300 (GRCm39) |
|
probably benign |
Het |
Tatdn1 |
A |
T |
15: 58,781,416 (GRCm39) |
|
probably benign |
Het |
Tfip11 |
C |
T |
5: 112,477,369 (GRCm39) |
P117L |
possibly damaging |
Het |
Vpreb1a |
T |
C |
16: 16,686,951 (GRCm39) |
M9V |
probably benign |
Het |
|
Other mutations in Lrrfip2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01408:Lrrfip2
|
APN |
9 |
111,043,284 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01462:Lrrfip2
|
APN |
9 |
111,034,917 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01845:Lrrfip2
|
APN |
9 |
111,028,728 (GRCm39) |
splice site |
probably benign |
|
IGL02218:Lrrfip2
|
APN |
9 |
111,048,793 (GRCm39) |
missense |
probably benign |
|
IGL02986:Lrrfip2
|
APN |
9 |
110,990,461 (GRCm39) |
splice site |
probably null |
|
R0091:Lrrfip2
|
UTSW |
9 |
111,043,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R1101:Lrrfip2
|
UTSW |
9 |
111,019,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R1722:Lrrfip2
|
UTSW |
9 |
111,028,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R2334:Lrrfip2
|
UTSW |
9 |
111,048,793 (GRCm39) |
missense |
probably benign |
|
R2336:Lrrfip2
|
UTSW |
9 |
111,051,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R3103:Lrrfip2
|
UTSW |
9 |
111,051,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R4357:Lrrfip2
|
UTSW |
9 |
111,028,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R5010:Lrrfip2
|
UTSW |
9 |
111,053,040 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5072:Lrrfip2
|
UTSW |
9 |
111,028,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R6026:Lrrfip2
|
UTSW |
9 |
111,043,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R6307:Lrrfip2
|
UTSW |
9 |
111,053,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R6870:Lrrfip2
|
UTSW |
9 |
111,045,187 (GRCm39) |
intron |
probably benign |
|
R7099:Lrrfip2
|
UTSW |
9 |
111,002,176 (GRCm39) |
missense |
probably benign |
0.04 |
R7312:Lrrfip2
|
UTSW |
9 |
111,006,525 (GRCm39) |
splice site |
probably null |
|
R7429:Lrrfip2
|
UTSW |
9 |
111,014,194 (GRCm39) |
splice site |
probably null |
|
R7847:Lrrfip2
|
UTSW |
9 |
111,042,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R7866:Lrrfip2
|
UTSW |
9 |
111,022,149 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7912:Lrrfip2
|
UTSW |
9 |
111,034,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R8872:Lrrfip2
|
UTSW |
9 |
111,034,824 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9103:Lrrfip2
|
UTSW |
9 |
111,034,840 (GRCm39) |
missense |
probably damaging |
0.99 |
R9325:Lrrfip2
|
UTSW |
9 |
110,990,429 (GRCm39) |
missense |
possibly damaging |
0.68 |
Z1176:Lrrfip2
|
UTSW |
9 |
110,990,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |