Incidental Mutation 'R4357:Lrrfip2'
| ID |
324618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrfip2
|
| Ensembl Gene |
ENSMUSG00000032497 |
| Gene Name |
leucine rich repeat (in FLII) interacting protein 2 |
| Synonyms |
5133400F20Rik |
| MMRRC Submission |
041109-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R4357 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110946660-111054736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111028755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 326
(E326G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035078]
[ENSMUST00000098340]
[ENSMUST00000196981]
[ENSMUST00000197241]
[ENSMUST00000197256]
[ENSMUST00000198986]
[ENSMUST00000200094]
[ENSMUST00000216430]
[ENSMUST00000217341]
[ENSMUST00000217117]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035078
AA Change: E136G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035078
Gene: ENSMUSG00000032497
AA Change: E136G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
31 |
340 |
2.5e-106 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098340
AA Change: E121G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095944
Gene: ENSMUSG00000032497
AA Change: E121G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
31 |
326 |
2.7e-122 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196981
AA Change: E145G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142851
Gene: ENSMUSG00000032497
AA Change: E145G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
31 |
350 |
4.5e-113 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197241
AA Change: E136G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142816
Gene: ENSMUSG00000032497
AA Change: E136G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
31 |
341 |
1.3e-119 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197256
AA Change: E158G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143322
Gene: ENSMUSG00000032497
AA Change: E158G
| 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 damaging
Transcript: ENSMUST00000198986
AA Change: E74G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143756
Gene: ENSMUSG00000032497
AA Change: E74G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
10 |
174 |
1.9e-56 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200094
AA Change: E145G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142471
Gene: ENSMUSG00000032497
AA Change: E145G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
31 |
174 |
4.9e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216430
AA Change: E97G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217341
AA Change: E326G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217117
AA Change: E94G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
A |
G |
8: 41,248,084 (GRCm39) |
T65A |
possibly damaging |
Het |
| Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,171,311 (GRCm39) |
E125G |
probably damaging |
Het |
| Atp13a2 |
C |
A |
4: 140,729,215 (GRCm39) |
D599E |
probably benign |
Het |
| Brme1 |
T |
C |
8: 84,886,221 (GRCm39) |
L59P |
probably benign |
Het |
| Camkv |
G |
A |
9: 107,825,145 (GRCm39) |
G354E |
probably benign |
Het |
| Casp8ap2 |
T |
A |
4: 32,646,150 (GRCm39) |
M1741K |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,938,106 (GRCm39) |
D119G |
probably benign |
Het |
| Cnga1 |
T |
A |
5: 72,775,595 (GRCm39) |
D42V |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,267,084 (GRCm39) |
I209V |
probably benign |
Het |
| Defa27 |
A |
T |
8: 21,805,608 (GRCm39) |
Q16L |
probably null |
Het |
| Dnaja3 |
T |
C |
16: 4,517,731 (GRCm39) |
I321T |
probably damaging |
Het |
| Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
| Eif2ak3 |
T |
A |
6: 70,861,859 (GRCm39) |
I467N |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,089,339 (GRCm39) |
V1105E |
probably damaging |
Het |
| Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
| Gm10803 |
A |
G |
2: 93,394,350 (GRCm39) |
R41G |
unknown |
Het |
| Gm38392 |
A |
T |
3: 88,154,741 (GRCm39) |
I221N |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Hsd17b6 |
G |
T |
10: 127,829,637 (GRCm39) |
|
probably null |
Het |
| Ids |
C |
A |
X: 69,389,950 (GRCm39) |
G506C |
probably damaging |
Het |
| Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
| Lats2 |
A |
G |
14: 57,936,840 (GRCm39) |
S550P |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,125,091 (GRCm39) |
R406G |
probably null |
Het |
| Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
| Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,055,174 (GRCm39) |
I1969N |
probably benign |
Het |
| Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
| Ngf |
A |
G |
3: 102,427,521 (GRCm39) |
E94G |
probably benign |
Het |
| Oas2 |
C |
T |
5: 120,876,734 (GRCm39) |
|
probably null |
Het |
| Odf2 |
A |
G |
2: 29,782,256 (GRCm39) |
T75A |
probably benign |
Het |
| Or4f60 |
A |
G |
2: 111,902,583 (GRCm39) |
L115P |
probably damaging |
Het |
| Or5w11 |
T |
A |
2: 87,458,810 (GRCm39) |
M1K |
probably null |
Het |
| Pi4ka |
T |
A |
16: 17,185,303 (GRCm39) |
I266F |
probably benign |
Het |
| Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
| Psmd2 |
T |
G |
16: 20,475,402 (GRCm39) |
D393E |
probably benign |
Het |
| Rabep2 |
A |
G |
7: 126,047,397 (GRCm39) |
I753T |
probably damaging |
Het |
| Rara |
A |
C |
11: 98,858,937 (GRCm39) |
I129L |
probably damaging |
Het |
| Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Spmip4 |
T |
C |
6: 50,551,190 (GRCm39) |
T420A |
probably benign |
Het |
| Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
| Sptlc1 |
A |
T |
13: 53,528,068 (GRCm39) |
I32K |
probably damaging |
Het |
| Srd5a3 |
T |
A |
5: 76,295,547 (GRCm39) |
F79Y |
probably damaging |
Het |
| Ssrp1 |
A |
T |
2: 84,871,495 (GRCm39) |
M306L |
probably benign |
Het |
| Sulf2 |
T |
C |
2: 165,919,497 (GRCm39) |
E817G |
probably benign |
Het |
| Tiam2 |
C |
A |
17: 3,501,128 (GRCm39) |
D922E |
probably damaging |
Het |
| Tle4 |
A |
G |
19: 14,445,625 (GRCm39) |
V207A |
probably benign |
Het |
| Ttll12 |
A |
T |
15: 83,465,958 (GRCm39) |
C413S |
probably damaging |
Het |
| Usp45 |
T |
A |
4: 21,834,350 (GRCm39) |
Y809* |
probably null |
Het |
| Vmn2r59 |
G |
A |
7: 41,661,644 (GRCm39) |
P724S |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTCATCTGTGTTACATGTGCAC -3'
(R):5'- TCCTTTAAACAGCGGGCTTTG -3'
Sequencing Primer
(F):5'- GTGTTACATGTGCACGTTACTGAAC -3'
(R):5'- AAACAGCGGGCTTTGATTTTCC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation