Incidental Mutation 'IGL02986:Lrrfip2'
| ID |
406745 |
| 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 # |
IGL02986
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
110946660-111054736 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 110990461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035078]
[ENSMUST00000098340]
[ENSMUST00000196703]
[ENSMUST00000196981]
[ENSMUST00000197241]
[ENSMUST00000197256]
[ENSMUST00000200094]
[ENSMUST00000217341]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035078
|
| SMART Domains |
Protein: ENSMUSP00000035078
Gene: ENSMUSG00000032497
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
31 |
340 |
2.5e-106 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098340
|
| SMART Domains |
Protein: ENSMUSP00000095944
Gene: ENSMUSG00000032497
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
31 |
326 |
2.7e-122 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196703
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196981
|
| SMART Domains |
Protein: ENSMUSP00000142851
Gene: ENSMUSG00000032497
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
31 |
350 |
4.5e-113 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197241
|
| SMART Domains |
Protein: ENSMUSP00000142816
Gene: ENSMUSG00000032497
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
31 |
341 |
1.3e-119 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197256
|
| SMART Domains |
Protein: ENSMUSP00000143322
Gene: ENSMUSG00000032497
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
31 |
363 |
2.9e-115 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200094
|
| SMART Domains |
Protein: ENSMUSP00000142471
Gene: ENSMUSG00000032497
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
31 |
174 |
4.9e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217341
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,263,311 (GRCm39) |
V264A |
possibly damaging |
Het |
| Akr1c6 |
G |
T |
13: 4,486,414 (GRCm39) |
V74L |
probably benign |
Het |
| Atp10a |
T |
G |
7: 58,478,469 (GRCm39) |
V1504G |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,641,690 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
A |
T |
9: 108,718,454 (GRCm39) |
|
probably null |
Het |
| Coro1b |
T |
C |
19: 4,199,470 (GRCm39) |
V43A |
possibly damaging |
Het |
| Dab1 |
A |
G |
4: 104,336,418 (GRCm39) |
T5A |
probably benign |
Het |
| Dennd5a |
C |
T |
7: 109,534,731 (GRCm39) |
A47T |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,150,399 (GRCm39) |
T69A |
possibly damaging |
Het |
| Dhx37 |
G |
A |
5: 125,496,379 (GRCm39) |
P721L |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,016,495 (GRCm39) |
N641D |
probably benign |
Het |
| Espnl |
A |
T |
1: 91,272,572 (GRCm39) |
Q600L |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,352,626 (GRCm39) |
V693A |
probably damaging |
Het |
| Fscn2 |
A |
G |
11: 120,258,176 (GRCm39) |
D366G |
possibly damaging |
Het |
| Gcsam |
C |
A |
16: 45,440,366 (GRCm39) |
F136L |
probably benign |
Het |
| Gm10643 |
A |
T |
8: 84,790,887 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
A |
T |
19: 56,299,624 (GRCm39) |
D174V |
probably benign |
Het |
| Hgfac |
T |
C |
5: 35,201,207 (GRCm39) |
V210A |
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
| L3mbtl1 |
T |
C |
2: 162,812,225 (GRCm39) |
W757R |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,138,535 (GRCm39) |
D1444G |
probably damaging |
Het |
| Mars1 |
A |
G |
10: 127,133,438 (GRCm39) |
V765A |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,047,086 (GRCm39) |
|
probably benign |
Het |
| Msln |
G |
A |
17: 25,971,907 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,197,645 (GRCm39) |
|
probably null |
Het |
| Or1p1c |
T |
G |
11: 74,160,928 (GRCm39) |
F238V |
possibly damaging |
Het |
| Or7e173 |
A |
T |
9: 19,939,007 (GRCm39) |
F76I |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,220,393 (GRCm39) |
M411K |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,856,793 (GRCm39) |
I649M |
probably benign |
Het |
| Plekha8 |
T |
C |
6: 54,606,851 (GRCm39) |
L382P |
probably damaging |
Het |
| Pspn |
A |
G |
17: 57,306,853 (GRCm39) |
|
probably benign |
Het |
| Rnf215 |
A |
G |
11: 4,089,793 (GRCm39) |
T269A |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,566,258 (GRCm39) |
L329Q |
probably damaging |
Het |
| Srms |
T |
A |
2: 180,854,290 (GRCm39) |
R92S |
possibly damaging |
Het |
| Ssxb10 |
C |
A |
X: 8,201,845 (GRCm39) |
S157* |
probably null |
Het |
| Tfap2c |
T |
C |
2: 172,399,171 (GRCm39) |
S448P |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,843,352 (GRCm39) |
N855D |
probably benign |
Het |
| Timeless |
A |
C |
10: 128,085,629 (GRCm39) |
D887A |
possibly damaging |
Het |
| Tyms |
T |
C |
5: 30,266,997 (GRCm39) |
Y169C |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,808,005 (GRCm39) |
C207S |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,611,147 (GRCm39) |
F1390S |
probably damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,393 (GRCm39) |
|
probably benign |
Het |
| Zfp369 |
A |
T |
13: 65,428,095 (GRCm39) |
D18V |
probably damaging |
Het |
|
| Other mutations in Lrrfip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01141:Lrrfip2
|
APN |
9 |
111,048,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation