Incidental Mutation 'R5456:Elfn1'
| ID |
432752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elfn1
|
| Ensembl Gene |
ENSMUSG00000048988 |
| Gene Name |
leucine rich repeat and fibronectin type III, extracellular 1 |
| Synonyms |
A930017N06Rik |
| MMRRC Submission |
043019-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R5456 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
139893698-139960477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139958571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 525
(Y525C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050519]
|
| AlphaFold |
Q8C8T7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050519
AA Change: Y525C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053869
Gene: ENSMUSG00000048988
AA Change: Y525C
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
G |
13: 91,889,759 (GRCm39) |
D37G |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,118,892 (GRCm39) |
F1081S |
probably damaging |
Het |
| Apmap |
T |
A |
2: 150,431,989 (GRCm39) |
I128L |
probably benign |
Het |
| Arhgap12 |
G |
A |
18: 6,112,170 (GRCm39) |
Q65* |
probably null |
Het |
| Baat |
C |
T |
4: 49,502,949 (GRCm39) |
V58I |
possibly damaging |
Het |
| Bco2 |
T |
C |
9: 50,456,644 (GRCm39) |
|
probably null |
Het |
| Bend3 |
T |
C |
10: 43,386,542 (GRCm39) |
Y312H |
probably damaging |
Het |
| Btnl2 |
A |
T |
17: 34,582,295 (GRCm39) |
Y287F |
probably benign |
Het |
| Cd22 |
T |
C |
7: 30,575,464 (GRCm39) |
I193V |
probably benign |
Het |
| Commd3 |
A |
G |
2: 18,678,968 (GRCm39) |
E95G |
probably damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,190,486 (GRCm39) |
D215G |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,877 (GRCm39) |
T409A |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,776 (GRCm39) |
I301F |
probably benign |
Het |
| Hemgn |
C |
T |
4: 46,396,571 (GRCm39) |
V222M |
probably damaging |
Het |
| Igsf3 |
C |
T |
3: 101,334,537 (GRCm39) |
H205Y |
probably benign |
Het |
| Mfsd1 |
T |
C |
3: 67,497,166 (GRCm39) |
I147T |
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,962,133 (GRCm39) |
D177G |
probably damaging |
Het |
| Nat2 |
G |
A |
8: 67,954,225 (GRCm39) |
V112I |
probably damaging |
Het |
| Or4c10b |
G |
A |
2: 89,711,602 (GRCm39) |
G144E |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pabpc1l |
T |
C |
2: 163,869,580 (GRCm39) |
S127P |
probably damaging |
Het |
| Poln |
A |
T |
5: 34,164,786 (GRCm39) |
L845Q |
possibly damaging |
Het |
| Ppm1f |
T |
A |
16: 16,741,610 (GRCm39) |
D361E |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,692,381 (GRCm39) |
|
probably null |
Het |
| Rarb |
G |
A |
14: 16,436,843 (GRCm38) |
T226I |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,357,378 (GRCm39) |
K205E |
probably benign |
Het |
| Sh3glb1 |
T |
A |
3: 144,415,114 (GRCm39) |
I75L |
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,705,716 (GRCm39) |
S236L |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,369,815 (GRCm39) |
Y609C |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,322,665 (GRCm39) |
V712A |
possibly damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,523 (GRCm39) |
D180G |
possibly damaging |
Het |
| Tst |
T |
C |
15: 78,284,158 (GRCm39) |
E223G |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,263 (GRCm39) |
I397M |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,269,500 (GRCm39) |
D481G |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,834,729 (GRCm39) |
M1686K |
possibly damaging |
Het |
| Wdr83 |
T |
C |
8: 85,806,837 (GRCm39) |
H81R |
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 |
|
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 |
|
V7732:Elfn1
|
UTSW |
5 |
139,957,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Elfn1
|
UTSW |
5 |
139,958,063 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTATGGTCCTGAGATTGAGGC -3'
(R):5'- TCTTTGTATACAGGGGACAGGAAG -3'
Sequencing Primer
(F):5'- TCCTGAGATTGAGGCGCCTG -3'
(R):5'- AGACACGGCCCCTGATTTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation