Incidental Mutation 'V7732:Elfn1'
| ID |
44032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elfn1
|
| Ensembl Gene |
ENSMUSG00000048988 |
| Gene Name |
leucine rich repeat and fibronectin type III, extracellular 1 |
| Synonyms |
A930017N06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
V7732 ()
of strain
may
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
139893698-139960477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139957194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 66
(R66Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050519]
|
| AlphaFold |
Q8C8T7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050519
AA Change: R66Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053869
Gene: ENSMUSG00000048988
AA Change: R66Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
LRR
|
83 |
106 |
3.24e0 |
SMART |
|
LRR
|
109 |
130 |
9.22e0 |
SMART |
|
LRR
|
131 |
154 |
4.2e0 |
SMART |
|
LRR
|
155 |
178 |
6.78e1 |
SMART |
|
LRRCT
|
190 |
240 |
4.49e-4 |
SMART |
|
low complexity region
|
268 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
313 |
N/A |
INTRINSIC |
|
Blast:FN3
|
314 |
389 |
1e-27 |
BLAST |
|
low complexity region
|
400 |
413 |
N/A |
INTRINSIC |
|
transmembrane domain
|
418 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
724 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198608
|
| Meta Mutation Damage Score |
0.1074 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.9%
- 20x: 90.3%
|
| Validation Efficiency |
96% (25/26) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutants display impaired coordination, hyperactivity, lower anxiety-related response, and increased susceptibility to induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,103,911 (GRCm39) |
F793L |
probably benign |
Het |
| Atmin |
C |
T |
8: 117,683,218 (GRCm39) |
P293S |
probably damaging |
Het |
| Card11 |
G |
A |
5: 140,862,250 (GRCm39) |
R1016* |
probably null |
Het |
| Cep89 |
A |
G |
7: 35,102,523 (GRCm39) |
S79G |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,991,670 (GRCm39) |
V2227A |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,098,412 (GRCm39) |
V534A |
probably damaging |
Het |
| Dpep2 |
T |
A |
8: 106,715,892 (GRCm39) |
H124L |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Ggh |
T |
A |
4: 20,046,225 (GRCm39) |
F44L |
probably benign |
Het |
| Gpr37 |
T |
C |
6: 25,669,122 (GRCm39) |
Y574C |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,952,107 (GRCm39) |
A1178S |
possibly damaging |
Het |
| Igsf9 |
A |
G |
1: 172,317,960 (GRCm39) |
T106A |
probably benign |
Het |
| Itpr3 |
G |
C |
17: 27,330,000 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
G |
T |
17: 27,329,998 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,506,561 (GRCm39) |
|
probably benign |
Het |
| Rabac1 |
T |
A |
7: 24,671,644 (GRCm39) |
Q51L |
probably damaging |
Het |
| Rgma |
A |
G |
7: 73,067,068 (GRCm39) |
T108A |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Sarm1 |
T |
A |
11: 78,378,891 (GRCm39) |
T385S |
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,780,677 (GRCm39) |
T357A |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,251,368 (GRCm39) |
I711V |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,378,172 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Elfn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1969:Elfn1
|
UTSW |
5 |
139,958,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Elfn1
|
UTSW |
5 |
139,959,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3702:Elfn1
|
UTSW |
5 |
139,958,114 (GRCm39) |
missense |
probably benign |
|
|
R3898:Elfn1
|
UTSW |
5 |
139,957,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3900:Elfn1
|
UTSW |
5 |
139,957,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4284:Elfn1
|
UTSW |
5 |
139,958,069 (GRCm39) |
nonsense |
probably null |
|
|
R4416:Elfn1
|
UTSW |
5 |
139,957,949 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4575:Elfn1
|
UTSW |
5 |
139,957,808 (GRCm39) |
missense |
probably benign |
|
|
R4576:Elfn1
|
UTSW |
5 |
139,957,808 (GRCm39) |
missense |
probably benign |
|
|
R4578:Elfn1
|
UTSW |
5 |
139,957,808 (GRCm39) |
missense |
probably benign |
|
|
R4617:Elfn1
|
UTSW |
5 |
139,957,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4729:Elfn1
|
UTSW |
5 |
139,959,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Elfn1
|
UTSW |
5 |
139,958,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5431:Elfn1
|
UTSW |
5 |
139,957,323 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5456:Elfn1
|
UTSW |
5 |
139,958,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6463:Elfn1
|
UTSW |
5 |
139,958,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Elfn1
|
UTSW |
5 |
139,958,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Elfn1
|
UTSW |
5 |
139,957,440 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7224:Elfn1
|
UTSW |
5 |
139,958,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7465:Elfn1
|
UTSW |
5 |
139,957,842 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8171:Elfn1
|
UTSW |
5 |
139,957,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Elfn1
|
UTSW |
5 |
139,957,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8454:Elfn1
|
UTSW |
5 |
139,957,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9381:Elfn1
|
UTSW |
5 |
139,959,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9655:Elfn1
|
UTSW |
5 |
139,958,964 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Z1177:Elfn1
|
UTSW |
5 |
139,958,063 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGGACATCTCTGACAGTGCAG -3'
(R):5'- ACGATGTTGGGACACTCCCAGAAG -3'
Sequencing Primer
(F):5'- AGTGCAGGCAGTGATCCATC -3'
(R):5'- ATCACCACCTCGATGAGGTTG -3'
|
| Posted On |
2013-05-31 |
Incidental Mutation