Incidental Mutation 'IGL01462:Lrrfip2'
| ID |
88036 |
| 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 # |
IGL01462
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
110946660-111054736 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 111034917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035078]
[ENSMUST00000098340]
[ENSMUST00000196981]
[ENSMUST00000197241]
[ENSMUST00000197256]
[ENSMUST00000198986]
[ENSMUST00000216430]
[ENSMUST00000217341]
[ENSMUST00000217117]
|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000197540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198127
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198986
|
| SMART Domains |
Protein: ENSMUSP00000143756
Gene: ENSMUSG00000032497
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
10 |
174 |
1.9e-56 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216430
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217341
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217117
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
C |
A |
6: 92,871,247 (GRCm39) |
A30S |
probably benign |
Het |
| Aspg |
A |
G |
12: 112,089,387 (GRCm39) |
T392A |
probably benign |
Het |
| Atp8b5 |
C |
A |
4: 43,368,010 (GRCm39) |
Q878K |
possibly damaging |
Het |
| Ccdc85a |
G |
T |
11: 28,526,506 (GRCm39) |
H339Q |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cog4 |
C |
T |
8: 111,592,717 (GRCm39) |
T430M |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,823,274 (GRCm39) |
Y28H |
unknown |
Het |
| Cth |
A |
T |
3: 157,610,804 (GRCm39) |
Y343N |
probably damaging |
Het |
| Dctn3 |
A |
T |
4: 41,719,854 (GRCm39) |
L84* |
probably null |
Het |
| Epha5 |
A |
T |
5: 84,219,092 (GRCm39) |
I868N |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,498,681 (GRCm39) |
N133D |
possibly damaging |
Het |
| Epor |
G |
A |
9: 21,870,752 (GRCm39) |
P376L |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,204,354 (GRCm39) |
V201A |
possibly damaging |
Het |
| Hdgf |
G |
A |
3: 87,821,831 (GRCm39) |
E149K |
possibly damaging |
Het |
| Ly6g6d |
T |
C |
17: 35,293,226 (GRCm39) |
I40V |
probably benign |
Het |
| Mlh3 |
G |
A |
12: 85,313,510 (GRCm39) |
T892I |
probably benign |
Het |
| Mmp19 |
C |
T |
10: 128,634,011 (GRCm39) |
T304I |
probably damaging |
Het |
| Mmp28 |
T |
C |
11: 83,334,602 (GRCm39) |
D384G |
possibly damaging |
Het |
| Moxd1 |
T |
C |
10: 24,120,286 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
T |
G |
10: 29,024,254 (GRCm39) |
L390R |
probably damaging |
Het |
| Ncapg |
T |
C |
5: 45,828,477 (GRCm39) |
V76A |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,005,774 (GRCm39) |
R165C |
probably benign |
Het |
| Or1e1c |
T |
C |
11: 73,265,578 (GRCm39) |
M1T |
probably null |
Het |
| Or2a57 |
A |
G |
6: 43,212,559 (GRCm39) |
T6A |
possibly damaging |
Het |
| Pik3c2a |
T |
A |
7: 115,975,485 (GRCm39) |
H694L |
possibly damaging |
Het |
| Psme2 |
A |
G |
14: 55,827,128 (GRCm39) |
L60P |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,237,175 (GRCm39) |
V4A |
probably benign |
Het |
| Rgr |
G |
T |
14: 36,766,566 (GRCm39) |
T160K |
probably damaging |
Het |
| Serpind1 |
A |
G |
16: 17,154,787 (GRCm39) |
I205V |
probably benign |
Het |
| Skap2 |
T |
C |
6: 51,898,280 (GRCm39) |
Y150C |
probably damaging |
Het |
| Srsf9 |
T |
C |
5: 115,470,187 (GRCm39) |
S122P |
probably damaging |
Het |
| Stox1 |
T |
G |
10: 62,500,461 (GRCm39) |
I700L |
probably benign |
Het |
| Tada1 |
A |
G |
1: 166,216,294 (GRCm39) |
D165G |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,731,828 (GRCm39) |
S338P |
probably benign |
Het |
| Trim39 |
G |
A |
17: 36,574,617 (GRCm39) |
|
probably benign |
Het |
| Wbp2 |
G |
A |
11: 115,972,066 (GRCm39) |
A130V |
possibly damaging |
Het |
| Zcchc17 |
T |
C |
4: 130,230,902 (GRCm39) |
K96E |
probably benign |
Het |
| Zfp800 |
G |
A |
6: 28,242,983 (GRCm39) |
L661F |
possibly 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 |
|
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 |
2013-11-18 |
Incidental Mutation