Incidental Mutation 'R1155:Elfn2'
ID |
101682 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elfn2
|
Ensembl Gene |
ENSMUSG00000043460 |
Gene Name |
leucine rich repeat and fibronectin type III, extracellular 2 |
Synonyms |
Lrrc62 |
MMRRC Submission |
039228-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R1155 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
78551531-78602971 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78557344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 401
(I401T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088592]
[ENSMUST00000229441]
|
AlphaFold |
Q68FM6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088592
AA Change: I401T
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000085960 Gene: ENSMUSG00000043460 AA Change: I401T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
LRR
|
78 |
101 |
9.96e-1 |
SMART |
LRR
|
103 |
125 |
5.56e0 |
SMART |
LRR
|
126 |
149 |
6.96e0 |
SMART |
LRR
|
150 |
173 |
1.66e1 |
SMART |
LRRCT
|
185 |
240 |
9.74e-2 |
SMART |
FN3
|
293 |
371 |
4.56e0 |
SMART |
transmembrane domain
|
397 |
419 |
N/A |
INTRINSIC |
low complexity region
|
583 |
598 |
N/A |
INTRINSIC |
low complexity region
|
633 |
647 |
N/A |
INTRINSIC |
low complexity region
|
686 |
696 |
N/A |
INTRINSIC |
low complexity region
|
754 |
768 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229441
AA Change: I401T
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229550
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230183
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230478
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
C |
11: 23,467,270 (GRCm39) |
E121G |
possibly damaging |
Het |
Abtb3 |
A |
T |
10: 85,465,155 (GRCm39) |
H665L |
probably damaging |
Het |
Adgrg1 |
G |
A |
8: 95,733,468 (GRCm39) |
V307I |
possibly damaging |
Het |
Cilp |
A |
G |
9: 65,176,869 (GRCm39) |
T42A |
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,722,047 (GRCm39) |
K1493M |
probably null |
Het |
Col6a6 |
A |
G |
9: 105,659,289 (GRCm39) |
V552A |
possibly damaging |
Het |
Cradd |
T |
C |
10: 95,158,586 (GRCm39) |
T54A |
probably benign |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Hoxc6 |
A |
G |
15: 102,919,279 (GRCm39) |
I172V |
probably damaging |
Het |
Knl1 |
T |
C |
2: 118,901,635 (GRCm39) |
L1112P |
possibly damaging |
Het |
Lipo4 |
T |
A |
19: 33,480,595 (GRCm39) |
I258F |
probably benign |
Het |
Morf4l1 |
A |
G |
9: 89,976,557 (GRCm39) |
V257A |
probably benign |
Het |
Or51a8 |
A |
T |
7: 102,549,819 (GRCm39) |
M82L |
probably benign |
Het |
Rnpepl1 |
T |
A |
1: 92,844,609 (GRCm39) |
M367K |
probably damaging |
Het |
Robo2 |
A |
G |
16: 73,831,996 (GRCm39) |
L228P |
probably damaging |
Het |
Samd9l |
T |
A |
6: 3,376,939 (GRCm39) |
E107D |
probably benign |
Het |
Shc1 |
A |
G |
3: 89,332,126 (GRCm39) |
I194V |
probably benign |
Het |
Slc25a46 |
A |
G |
18: 31,716,668 (GRCm39) |
I278T |
probably benign |
Het |
Tmem178 |
T |
A |
17: 81,308,429 (GRCm39) |
C275S |
possibly damaging |
Het |
Tpsg1 |
A |
T |
17: 25,592,768 (GRCm39) |
Q40L |
possibly damaging |
Het |
Trank1 |
A |
G |
9: 111,196,038 (GRCm39) |
E1354G |
possibly damaging |
Het |
Vit |
T |
C |
17: 78,873,456 (GRCm39) |
I44T |
probably damaging |
Het |
Vstm5 |
T |
C |
9: 15,168,849 (GRCm39) |
S138P |
probably damaging |
Het |
|
Other mutations in Elfn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01353:Elfn2
|
APN |
15 |
78,556,618 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02165:Elfn2
|
APN |
15 |
78,557,618 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02951:Elfn2
|
APN |
15 |
78,556,082 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03402:Elfn2
|
APN |
15 |
78,557,670 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0083:Elfn2
|
UTSW |
15 |
78,557,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R0441:Elfn2
|
UTSW |
15 |
78,557,795 (GRCm39) |
missense |
probably benign |
0.09 |
R0570:Elfn2
|
UTSW |
15 |
78,557,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R1670:Elfn2
|
UTSW |
15 |
78,556,568 (GRCm39) |
missense |
probably benign |
0.05 |
R2033:Elfn2
|
UTSW |
15 |
78,556,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R2138:Elfn2
|
UTSW |
15 |
78,558,238 (GRCm39) |
missense |
probably benign |
0.05 |
R2167:Elfn2
|
UTSW |
15 |
78,556,646 (GRCm39) |
missense |
probably benign |
0.09 |
R2226:Elfn2
|
UTSW |
15 |
78,558,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R2497:Elfn2
|
UTSW |
15 |
78,558,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R5175:Elfn2
|
UTSW |
15 |
78,558,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R5215:Elfn2
|
UTSW |
15 |
78,558,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R5588:Elfn2
|
UTSW |
15 |
78,558,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R7291:Elfn2
|
UTSW |
15 |
78,557,183 (GRCm39) |
missense |
probably benign |
0.21 |
R7760:Elfn2
|
UTSW |
15 |
78,558,041 (GRCm39) |
missense |
probably benign |
0.00 |
R7893:Elfn2
|
UTSW |
15 |
78,557,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R8018:Elfn2
|
UTSW |
15 |
78,557,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R8084:Elfn2
|
UTSW |
15 |
78,556,660 (GRCm39) |
missense |
probably damaging |
0.98 |
R8112:Elfn2
|
UTSW |
15 |
78,557,635 (GRCm39) |
missense |
probably damaging |
0.97 |
R8501:Elfn2
|
UTSW |
15 |
78,558,500 (GRCm39) |
missense |
probably benign |
|
R8717:Elfn2
|
UTSW |
15 |
78,556,561 (GRCm39) |
missense |
probably benign |
0.01 |
R8961:Elfn2
|
UTSW |
15 |
78,557,378 (GRCm39) |
missense |
probably benign |
0.00 |
R9001:Elfn2
|
UTSW |
15 |
78,557,438 (GRCm39) |
missense |
probably benign |
0.34 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |