Incidental Mutation 'IGL03402:Elfn2'
| ID |
421463 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elfn2
|
| Ensembl Gene |
ENSMUSG00000043460 |
| Gene Name |
leucine rich repeat and fibronectin type III, extracellular 2 |
| Synonyms |
Lrrc62 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL03402
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
78551531-78602971 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78557670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 292
(D292E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088592]
[ENSMUST00000229441]
|
| AlphaFold |
Q68FM6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088592
AA Change: D292E
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000085960
Gene: ENSMUSG00000043460
AA Change: D292E
| 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 |
possibly damaging
Transcript: ENSMUST00000229441
AA Change: D292E
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230478
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
C |
1: 53,216,972 (GRCm39) |
H81R |
probably benign |
Het |
| Alg10b |
A |
T |
15: 90,112,532 (GRCm39) |
K459* |
probably null |
Het |
| C8g |
A |
T |
2: 25,388,824 (GRCm39) |
*203K |
probably null |
Het |
| Cacna1b |
T |
C |
2: 24,652,821 (GRCm39) |
E80G |
probably damaging |
Het |
| Cdh12 |
T |
A |
15: 21,583,826 (GRCm39) |
N555K |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,387,273 (GRCm39) |
N1669I |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,480,203 (GRCm39) |
|
probably null |
Het |
| Ear1 |
A |
G |
14: 44,056,575 (GRCm39) |
S98P |
probably benign |
Het |
| Fbxw24 |
T |
C |
9: 109,430,316 (GRCm39) |
S443G |
probably damaging |
Het |
| Fnip2 |
T |
C |
3: 79,388,583 (GRCm39) |
E716G |
possibly damaging |
Het |
| Gabra1 |
G |
T |
11: 42,024,345 (GRCm39) |
N443K |
probably damaging |
Het |
| Grik5 |
A |
T |
7: 24,714,894 (GRCm39) |
V700E |
probably damaging |
Het |
| Ifi27l2a |
T |
A |
12: 103,405,772 (GRCm39) |
N162K |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,115,731 (GRCm39) |
T49S |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,463,443 (GRCm39) |
M1750V |
probably benign |
Het |
| Or10g9b |
A |
T |
9: 39,917,802 (GRCm39) |
W148R |
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,349,667 (GRCm39) |
M1K |
probably null |
Het |
| Or2y1 |
A |
T |
11: 49,385,873 (GRCm39) |
H171L |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,511,667 (GRCm39) |
V352A |
probably damaging |
Het |
| Prkca |
T |
A |
11: 108,231,489 (GRCm39) |
Q63L |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Slfn14 |
T |
C |
11: 83,167,139 (GRCm39) |
K792R |
probably benign |
Het |
| Slfn3 |
C |
T |
11: 83,104,257 (GRCm39) |
T376M |
probably damaging |
Het |
| Snx19 |
A |
T |
9: 30,351,430 (GRCm39) |
I135F |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,805,165 (GRCm39) |
V271E |
probably benign |
Het |
| Trpv1 |
T |
G |
11: 73,130,463 (GRCm39) |
F190V |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,756,588 (GRCm39) |
V765A |
possibly damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,679 (GRCm39) |
H68R |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,267,148 (GRCm39) |
I177T |
possibly damaging |
Het |
| Zfp810 |
A |
C |
9: 22,190,441 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R1155:Elfn2
|
UTSW |
15 |
78,557,344 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation