Incidental Mutation 'R6551:Espn'
ID |
543461 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Espn
|
Ensembl Gene |
ENSMUSG00000028943 |
Gene Name |
espin |
Synonyms |
|
MMRRC Submission |
044676-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.280)
|
Stock # |
R6551 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
152204788-152236828 bp(-) (GRCm39) |
Type of Mutation |
|
DNA Base Change (assembly) |
T to C
at 152213223 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
|
AlphaFold |
Q9ET47 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
100% (41/41) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009] PHENOTYPE: Homozygotes for a spontaneous mutation exhibit progressive degeneration of both inner and outer hair cells, severe deafness, vestibular dysfunction, and poor mothering ability. Heterozygotes show a progressive, age-related hearing loss. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
A |
T |
1: 192,856,831 (GRCm39) |
Q61L |
probably damaging |
Het |
Acss2 |
T |
C |
2: 155,393,128 (GRCm39) |
S285P |
probably benign |
Het |
Ager |
A |
G |
17: 34,818,442 (GRCm39) |
|
probably null |
Het |
Alkbh7 |
T |
A |
17: 57,305,945 (GRCm39) |
Y115* |
probably null |
Het |
Brwd1 |
T |
C |
16: 95,795,162 (GRCm39) |
D2184G |
possibly damaging |
Het |
Chp1 |
T |
A |
2: 119,402,294 (GRCm39) |
H89Q |
possibly damaging |
Het |
Clmp |
T |
C |
9: 40,682,573 (GRCm39) |
V119A |
probably benign |
Het |
Cryge |
A |
T |
1: 65,087,796 (GRCm39) |
M171K |
probably benign |
Het |
Cttnbp2nl |
A |
T |
3: 104,912,433 (GRCm39) |
S484T |
possibly damaging |
Het |
Dsg3 |
C |
A |
18: 20,672,968 (GRCm39) |
P880T |
unknown |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fbxo31 |
A |
C |
8: 122,291,443 (GRCm39) |
|
probably benign |
Het |
Grin2b |
A |
G |
6: 135,710,342 (GRCm39) |
V1068A |
probably damaging |
Het |
Jak1 |
C |
A |
4: 101,051,040 (GRCm39) |
|
probably benign |
Het |
Klra10 |
A |
T |
6: 130,252,718 (GRCm39) |
D185E |
probably benign |
Het |
Lhx1 |
A |
C |
11: 84,412,739 (GRCm39) |
D60E |
probably benign |
Het |
Lyar |
C |
A |
5: 38,390,616 (GRCm39) |
A326D |
probably damaging |
Het |
Muc16 |
A |
C |
9: 18,473,858 (GRCm39) |
S1280A |
possibly damaging |
Het |
Nol9 |
G |
A |
4: 152,136,325 (GRCm39) |
V466I |
possibly damaging |
Het |
Or10d1 |
C |
A |
9: 39,483,856 (GRCm39) |
R233L |
probably benign |
Het |
Or12e8 |
T |
C |
2: 87,677,005 (GRCm39) |
V130A |
possibly damaging |
Het |
Or1e17 |
T |
C |
11: 73,831,129 (GRCm39) |
I19T |
probably benign |
Het |
Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
Or2w3b |
A |
T |
11: 58,623,583 (GRCm39) |
M136K |
probably damaging |
Het |
Or2y10 |
G |
T |
11: 49,454,816 (GRCm39) |
V23L |
probably benign |
Het |
Pik3c2a |
A |
T |
7: 116,016,731 (GRCm39) |
I342N |
probably damaging |
Het |
Pnldc1 |
A |
G |
17: 13,124,456 (GRCm39) |
M133T |
probably damaging |
Het |
Rab11fip1 |
G |
A |
8: 27,646,512 (GRCm39) |
S188L |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 79,122,342 (GRCm39) |
|
probably null |
Het |
Rnf103 |
G |
A |
6: 71,487,349 (GRCm39) |
C660Y |
probably damaging |
Het |
Rph3al |
G |
A |
11: 75,797,372 (GRCm39) |
S108F |
possibly damaging |
Het |
Srsf7 |
A |
C |
17: 80,511,648 (GRCm39) |
|
probably benign |
Het |
Ssrp1 |
A |
G |
2: 84,871,450 (GRCm39) |
|
probably null |
Het |
Tamm41 |
T |
C |
6: 114,989,142 (GRCm39) |
D284G |
possibly damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tmem39b |
A |
G |
4: 129,585,896 (GRCm39) |
V25A |
probably benign |
Het |
Tmem88b |
G |
T |
4: 155,870,149 (GRCm39) |
|
probably benign |
Het |
Unk |
T |
C |
11: 115,941,550 (GRCm39) |
W266R |
probably damaging |
Het |
Usp8 |
T |
A |
2: 126,575,102 (GRCm39) |
|
probably benign |
Het |
Zbtb48 |
T |
G |
4: 152,106,678 (GRCm39) |
Q142P |
probably benign |
Het |
Zdhhc18 |
T |
C |
4: 133,340,960 (GRCm39) |
T267A |
probably benign |
Het |
Zfp335 |
G |
A |
2: 164,751,285 (GRCm39) |
P94S |
probably benign |
Het |
|
Other mutations in Espn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00928:Espn
|
APN |
4 |
152,220,059 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01404:Espn
|
APN |
4 |
152,222,901 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01576:Espn
|
APN |
4 |
152,208,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Espn
|
UTSW |
4 |
152,223,609 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1475:Espn
|
UTSW |
4 |
152,218,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R1773:Espn
|
UTSW |
4 |
152,212,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Espn
|
UTSW |
4 |
152,213,012 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2014:Espn
|
UTSW |
4 |
152,217,416 (GRCm39) |
splice site |
probably null |
|
R2049:Espn
|
UTSW |
4 |
152,205,714 (GRCm39) |
missense |
probably damaging |
0.99 |
R2281:Espn
|
UTSW |
4 |
152,220,002 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4278:Espn
|
UTSW |
4 |
152,218,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R4527:Espn
|
UTSW |
4 |
152,220,106 (GRCm39) |
missense |
probably damaging |
0.99 |
R4539:Espn
|
UTSW |
4 |
152,218,665 (GRCm39) |
nonsense |
probably null |
|
R4621:Espn
|
UTSW |
4 |
152,215,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R4839:Espn
|
UTSW |
4 |
152,222,961 (GRCm39) |
missense |
probably damaging |
0.99 |
R4860:Espn
|
UTSW |
4 |
152,223,303 (GRCm39) |
missense |
probably damaging |
0.99 |
R4860:Espn
|
UTSW |
4 |
152,223,303 (GRCm39) |
missense |
probably damaging |
0.99 |
R4998:Espn
|
UTSW |
4 |
152,220,040 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5412:Espn
|
UTSW |
4 |
152,212,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R5570:Espn
|
UTSW |
4 |
152,208,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R6549:Espn
|
UTSW |
4 |
152,215,525 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R7124:Espn
|
UTSW |
4 |
152,215,721 (GRCm39) |
missense |
probably benign |
0.00 |
R7838:Espn
|
UTSW |
4 |
152,215,738 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7863:Espn
|
UTSW |
4 |
152,236,616 (GRCm39) |
missense |
probably damaging |
0.99 |
R8236:Espn
|
UTSW |
4 |
152,233,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R8948:Espn
|
UTSW |
4 |
152,223,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R9234:Espn
|
UTSW |
4 |
152,217,380 (GRCm39) |
critical splice donor site |
probably null |
|
R9550:Espn
|
UTSW |
4 |
152,215,534 (GRCm39) |
missense |
probably damaging |
0.96 |
R9607:Espn
|
UTSW |
4 |
152,219,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGGTACCATTCACATCTCC -3'
(R):5'- AAGGGTCACTGGCTTTGCTG -3'
Sequencing Primer
(F):5'- GGTACCATTCACATCTCCCTCCTG -3'
(R):5'- CACTGGCTTTGCTGATGAAG -3'
|
Posted On |
2019-01-04 |