Incidental Mutation 'R2039:Efna5'
| ID |
225465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efna5
|
| Ensembl Gene |
ENSMUSG00000048915 |
| Gene Name |
ephrin A5 |
| Synonyms |
AL-1, RAGS, Ephrin-A5, Epl7, EFL-5, LERK-7 |
| MMRRC Submission |
040046-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2039 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
62911179-63188312 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 63188061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 22
(D22A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076840]
[ENSMUST00000078839]
|
| AlphaFold |
O08543 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076840
AA Change: D22A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000076115
Gene: ENSMUSG00000048915
AA Change: D22A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Ephrin
|
29 |
158 |
4.5e-42 |
PFAM |
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078839
AA Change: D22A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000077883
Gene: ENSMUSG00000048915
AA Change: D22A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Ephrin
|
26 |
164 |
2.4e-58 |
PFAM |
|
low complexity region
|
187 |
201 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0714 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit abnormalities in establishing correct axonal connections involving the retinal, motor, vomeronasal, and tactile axons to their respective targets. Some mutants develop neural tube defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,636,908 (GRCm39) |
T757K |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,911,487 (GRCm39) |
V1357A |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,190,755 (GRCm39) |
F785S |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,058,027 (GRCm39) |
F3206I |
possibly damaging |
Het |
| Bmal1 |
T |
G |
7: 112,884,319 (GRCm39) |
L119R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,819 (GRCm39) |
I554V |
probably benign |
Het |
| Cuzd1 |
T |
C |
7: 130,911,345 (GRCm39) |
S545G |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,916,643 (GRCm39) |
|
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,255,678 (GRCm39) |
Y574* |
probably null |
Het |
| Eef1d |
T |
C |
15: 75,767,618 (GRCm39) |
D252G |
probably damaging |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,341,096 (GRCm39) |
I236T |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,067,075 (GRCm39) |
L320S |
probably benign |
Het |
| Fsd1l |
T |
A |
4: 53,679,972 (GRCm39) |
D223E |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,415 (GRCm39) |
A123V |
possibly damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,715 (GRCm39) |
D15E |
possibly damaging |
Het |
| Gm12789 |
T |
C |
4: 101,846,183 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,058,612 (GRCm39) |
T336S |
probably damaging |
Het |
| Hhla1 |
G |
A |
15: 65,808,226 (GRCm39) |
T273I |
possibly damaging |
Het |
| Hira |
A |
G |
16: 18,770,451 (GRCm39) |
H812R |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,216 (GRCm39) |
N360S |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,534,038 (GRCm39) |
L1463S |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,467,535 (GRCm39) |
F171S |
probably damaging |
Het |
| Lrfn5 |
T |
C |
12: 61,887,109 (GRCm39) |
L299S |
possibly damaging |
Het |
| Msr1 |
A |
T |
8: 40,042,418 (GRCm39) |
W386R |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,227,415 (GRCm39) |
V162A |
possibly damaging |
Het |
| Npy6r |
A |
G |
18: 44,409,070 (GRCm39) |
T164A |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,705,597 (GRCm39) |
L48P |
possibly damaging |
Het |
| Rbak |
C |
A |
5: 143,158,930 (GRCm39) |
V708L |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,700,440 (GRCm39) |
I1646V |
probably damaging |
Het |
| Rsrc1 |
A |
G |
3: 66,901,951 (GRCm39) |
T34A |
unknown |
Het |
| Septin9 |
G |
A |
11: 117,242,443 (GRCm39) |
V53I |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,076,904 (GRCm39) |
A1646T |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,120,510 (GRCm39) |
S4167P |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,634,324 (GRCm39) |
|
probably null |
Het |
| St7 |
T |
C |
6: 17,886,111 (GRCm39) |
Y358H |
probably damaging |
Het |
| Tafa1 |
C |
A |
6: 96,631,725 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
A |
6: 42,411,557 (GRCm39) |
M30K |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,408,922 (GRCm39) |
T700I |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,698,810 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,703 (GRCm39) |
I167S |
probably benign |
Het |
| Uhmk1 |
T |
C |
1: 170,039,836 (GRCm39) |
D88G |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,201,400 (GRCm39) |
F332Y |
probably damaging |
Het |
| Wdr48 |
T |
A |
9: 119,738,453 (GRCm39) |
W38R |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,242,388 (GRCm39) |
D622G |
probably damaging |
Het |
|
| Other mutations in Efna5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Efna5
|
APN |
17 |
62,920,374 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02142:Efna5
|
APN |
17 |
62,914,340 (GRCm39) |
missense |
unknown |
|
|
IGL02152:Efna5
|
APN |
17 |
62,958,055 (GRCm39) |
missense |
probably benign |
|
|
IGL02534:Efna5
|
APN |
17 |
62,920,384 (GRCm39) |
nonsense |
probably null |
|
|
IGL02556:Efna5
|
APN |
17 |
62,958,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0041:Efna5
|
UTSW |
17 |
62,914,467 (GRCm39) |
splice site |
probably benign |
|
|
R0265:Efna5
|
UTSW |
17 |
62,958,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Efna5
|
UTSW |
17 |
62,914,414 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0565:Efna5
|
UTSW |
17 |
63,188,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2570:Efna5
|
UTSW |
17 |
63,188,023 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4621:Efna5
|
UTSW |
17 |
62,958,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4622:Efna5
|
UTSW |
17 |
62,958,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5672:Efna5
|
UTSW |
17 |
63,188,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5723:Efna5
|
UTSW |
17 |
62,914,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7876:Efna5
|
UTSW |
17 |
62,957,929 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8049:Efna5
|
UTSW |
17 |
62,957,977 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8432:Efna5
|
UTSW |
17 |
62,958,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Efna5
|
UTSW |
17 |
63,188,125 (GRCm39) |
start codon destroyed |
probably null |
0.33 |
|
R8856:Efna5
|
UTSW |
17 |
62,914,374 (GRCm39) |
missense |
unknown |
|
|
R8921:Efna5
|
UTSW |
17 |
63,188,053 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
RF007:Efna5
|
UTSW |
17 |
62,920,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0021:Efna5
|
UTSW |
17 |
62,914,395 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0025:Efna5
|
UTSW |
17 |
62,958,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTTAACAAAGAGCGGC -3'
(R):5'- ATTTATTTGGCGTCCGCTCT -3'
Sequencing Primer
(F):5'- TCTGGCGACGCAGGCTC -3'
(R):5'- GGCGTCCGCTCTCTTCG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation