Incidental Mutation 'R1101:Lrrfip2'
ID |
98103 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrfip2
|
Ensembl Gene |
ENSMUSG00000032497 |
Gene Name |
leucine rich repeat (in FLII) interacting protein 2 |
Synonyms |
5133400F20Rik |
MMRRC Submission |
039174-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R1101 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
110946660-111054736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 111019293 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 275
(R275W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149845
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035078]
[ENSMUST00000098340]
[ENSMUST00000196703]
[ENSMUST00000196981]
[ENSMUST00000197241]
[ENSMUST00000197256]
[ENSMUST00000198986]
[ENSMUST00000200094]
[ENSMUST00000217117]
[ENSMUST00000216430]
[ENSMUST00000217341]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035078
AA Change: R109W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035078 Gene: ENSMUSG00000032497 AA Change: R109W
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
340 |
2.5e-106 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098340
AA Change: R94W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095944 Gene: ENSMUSG00000032497 AA Change: R94W
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
326 |
2.7e-122 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196703
AA Change: R106W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196981
AA Change: R94W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142851 Gene: ENSMUSG00000032497 AA Change: R94W
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
350 |
4.5e-113 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197241
AA Change: R109W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142816 Gene: ENSMUSG00000032497 AA Change: R109W
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
341 |
1.3e-119 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197256
AA Change: R131W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143322 Gene: ENSMUSG00000032497 AA Change: R131W
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
363 |
2.9e-115 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197540
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198986
AA Change: R47W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143756 Gene: ENSMUSG00000032497 AA Change: R47W
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
10 |
174 |
1.9e-56 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200094
AA Change: R94W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142471 Gene: ENSMUSG00000032497 AA Change: R94W
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
174 |
4.9e-50 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217117
AA Change: R67W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216430
AA Change: R70W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217341
AA Change: R275W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 91.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
2610021A01Rik |
C |
A |
7: 41,276,783 (GRCm39) |
H829N |
probably damaging |
Het |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
Abi3bp |
G |
T |
16: 56,426,521 (GRCm39) |
R512L |
probably damaging |
Het |
Acot2 |
T |
G |
12: 84,039,624 (GRCm39) |
S378A |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,096,205 (GRCm39) |
I2360T |
probably benign |
Het |
Bank1 |
T |
C |
3: 135,989,625 (GRCm39) |
D155G |
probably benign |
Het |
Bsn |
A |
G |
9: 107,993,610 (GRCm39) |
V714A |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,587,585 (GRCm39) |
V170I |
possibly damaging |
Het |
Clcn2 |
G |
A |
16: 20,522,345 (GRCm39) |
T787I |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,864,599 (GRCm39) |
H131R |
probably damaging |
Het |
Dct |
T |
G |
14: 118,274,034 (GRCm39) |
D291A |
probably damaging |
Het |
Dhx37 |
A |
G |
5: 125,492,216 (GRCm39) |
Y1128H |
probably damaging |
Het |
Dip2c |
A |
T |
13: 9,684,780 (GRCm39) |
I1174F |
probably damaging |
Het |
Eif3l |
A |
G |
15: 78,959,467 (GRCm39) |
Y3C |
probably damaging |
Het |
Enpp5 |
A |
G |
17: 44,392,258 (GRCm39) |
N229S |
possibly damaging |
Het |
Fam83b |
A |
T |
9: 76,452,952 (GRCm39) |
H38Q |
possibly damaging |
Het |
Fcamr |
T |
A |
1: 130,742,223 (GRCm39) |
|
probably null |
Het |
Hdac2 |
G |
A |
10: 36,867,805 (GRCm39) |
V184I |
probably damaging |
Het |
Igf2bp2 |
A |
T |
16: 21,981,700 (GRCm39) |
L5Q |
probably damaging |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Ireb2 |
T |
A |
9: 54,816,986 (GRCm39) |
H951Q |
probably benign |
Het |
Lman1 |
T |
A |
18: 66,120,969 (GRCm39) |
M418L |
probably benign |
Het |
Mast3 |
T |
A |
8: 71,239,307 (GRCm39) |
I424F |
probably damaging |
Het |
Mep1a |
T |
C |
17: 43,802,584 (GRCm39) |
D147G |
probably benign |
Het |
Mtr |
C |
A |
13: 12,204,411 (GRCm39) |
E1128D |
possibly damaging |
Het |
Ogfod1 |
C |
A |
8: 94,790,932 (GRCm39) |
S534R |
probably benign |
Het |
Or4c107 |
A |
T |
2: 88,789,328 (GRCm39) |
I173F |
possibly damaging |
Het |
Or4k42 |
T |
C |
2: 111,319,787 (GRCm39) |
T239A |
probably damaging |
Het |
Or5k1 |
A |
G |
16: 58,617,615 (GRCm39) |
V198A |
probably benign |
Het |
Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
Pcdh18 |
T |
A |
3: 49,707,828 (GRCm39) |
D882V |
probably damaging |
Het |
Pik3cg |
C |
T |
12: 32,245,645 (GRCm39) |
G868S |
probably null |
Het |
Plppr5 |
T |
G |
3: 117,456,172 (GRCm39) |
M231R |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,638,897 (GRCm39) |
T46A |
probably benign |
Het |
Ppp4r3a |
C |
A |
12: 101,017,830 (GRCm39) |
R440L |
probably damaging |
Het |
Serpinb9e |
A |
T |
13: 33,444,071 (GRCm39) |
T364S |
probably benign |
Het |
Sirt3 |
A |
G |
7: 140,449,541 (GRCm39) |
V135A |
possibly damaging |
Het |
Supt16 |
T |
C |
14: 52,408,896 (GRCm39) |
N826S |
probably null |
Het |
Tbr1 |
T |
C |
2: 61,635,083 (GRCm39) |
I11T |
probably benign |
Het |
Trim72 |
A |
G |
7: 127,609,419 (GRCm39) |
E407G |
possibly damaging |
Het |
Vps72 |
C |
A |
3: 95,026,487 (GRCm39) |
T144K |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTCAGCAGGTTAGGAACCAAGAC -3'
(R):5'- TGATGCCCATGAACTGGACAGAAAC -3'
Sequencing Primer
(F):5'- CTCCCGTGTTTGAGACCAG -3'
(R):5'- TGAACTGGACAGAAACCCTACTTTG -3'
|
Posted On |
2014-01-05 |