Incidental Mutation 'R6817:Esrp1'
| ID |
537368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esrp1
|
| Ensembl Gene |
ENSMUSG00000040728 |
| Gene Name |
epithelial splicing regulatory protein 1 |
| Synonyms |
2210008M09Rik, Rbm35a |
| MMRRC Submission |
044929-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.511)
|
| Stock # |
R6817 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
11331933-11386783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11357552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 355
(V355A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043781]
[ENSMUST00000108310]
[ENSMUST00000108311]
[ENSMUST00000108313]
[ENSMUST00000147342]
[ENSMUST00000155519]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043781
AA Change: V520A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037921
Gene: ENSMUSG00000040728
AA Change: V520A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
226 |
298 |
2.6e-2 |
SMART |
|
RRM
|
327 |
402 |
1.75e-5 |
SMART |
|
low complexity region
|
420 |
434 |
N/A |
INTRINSIC |
|
RRM
|
446 |
521 |
1.03e-2 |
SMART |
|
low complexity region
|
542 |
552 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108310
AA Change: V520A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103946
Gene: ENSMUSG00000040728
AA Change: V520A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
226 |
298 |
2.6e-2 |
SMART |
|
RRM
|
327 |
402 |
1.75e-5 |
SMART |
|
low complexity region
|
420 |
434 |
N/A |
INTRINSIC |
|
RRM
|
446 |
521 |
1.03e-2 |
SMART |
|
low complexity region
|
542 |
552 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108311
AA Change: V520A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103947
Gene: ENSMUSG00000040728
AA Change: V520A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
226 |
298 |
2.6e-2 |
SMART |
|
RRM
|
327 |
402 |
1.75e-5 |
SMART |
|
low complexity region
|
420 |
434 |
N/A |
INTRINSIC |
|
RRM
|
446 |
521 |
1.03e-2 |
SMART |
|
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108313
AA Change: V520A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103949
Gene: ENSMUSG00000040728
AA Change: V520A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
226 |
298 |
2.6e-2 |
SMART |
|
RRM
|
327 |
402 |
1.75e-5 |
SMART |
|
low complexity region
|
420 |
434 |
N/A |
INTRINSIC |
|
RRM
|
446 |
521 |
1.03e-2 |
SMART |
|
low complexity region
|
542 |
552 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147342
AA Change: V355A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121117
Gene: ENSMUSG00000040728
AA Change: V355A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
61 |
133 |
2.6e-2 |
SMART |
|
RRM
|
162 |
237 |
1.75e-5 |
SMART |
|
low complexity region
|
255 |
269 |
N/A |
INTRINSIC |
|
RRM
|
281 |
356 |
1.03e-2 |
SMART |
|
low complexity region
|
377 |
387 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155519
|
| SMART Domains |
Protein: ENSMUSP00000119598
Gene: ENSMUSG00000040728
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
212 |
284 |
2.6e-2 |
SMART |
|
RRM
|
313 |
388 |
1.75e-5 |
SMART |
|
low complexity region
|
406 |
420 |
N/A |
INTRINSIC |
|
Blast:RRM
|
432 |
472 |
7e-20 |
BLAST |
|
| Meta Mutation Damage Score |
0.3740 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit hyperactivity and circling with no detectable hearing deficits. Mice homozygous for a null allele exhibit bilateral cleft lip and cleft palate, and die at P0. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Arhgap21 |
A |
C |
2: 20,885,107 (GRCm39) |
L690R |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,656,637 (GRCm39) |
N1549S |
probably benign |
Het |
| Cast |
T |
C |
13: 74,847,277 (GRCm39) |
T670A |
possibly damaging |
Het |
| Cd109 |
A |
G |
9: 78,622,237 (GRCm39) |
D1409G |
probably benign |
Het |
| Cemip |
A |
G |
7: 83,637,200 (GRCm39) |
F311S |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,744,524 (GRCm39) |
I1210F |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cops5 |
G |
A |
1: 10,100,829 (GRCm39) |
L256F |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,402,027 (GRCm39) |
|
probably null |
Het |
| Dab1 |
A |
G |
4: 104,536,743 (GRCm39) |
K178E |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,774,854 (GRCm39) |
Y346H |
probably damaging |
Het |
| Dlg2 |
T |
G |
7: 91,614,872 (GRCm39) |
D225E |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,527,462 (GRCm39) |
I198F |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,049,807 (GRCm39) |
H155R |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,036,305 (GRCm39) |
H247R |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,419 (GRCm39) |
M193V |
possibly damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,607,037 (GRCm39) |
T4A |
probably benign |
Het |
| Gm17175 |
T |
C |
14: 51,810,478 (GRCm39) |
N50D |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,173,931 (GRCm39) |
|
probably benign |
Het |
| Lpo |
T |
C |
11: 87,700,067 (GRCm39) |
N525D |
probably benign |
Het |
| Lrrc41 |
G |
A |
4: 115,946,502 (GRCm39) |
E406K |
possibly damaging |
Het |
| Lrrc59 |
G |
C |
11: 94,520,891 (GRCm39) |
D21H |
probably damaging |
Het |
| Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
| Mroh7 |
C |
T |
4: 106,571,312 (GRCm39) |
A14T |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,416,650 (GRCm39) |
S3199P |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,237,326 (GRCm39) |
Y270F |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 112,978,104 (GRCm39) |
T1273S |
probably benign |
Het |
| Nos2 |
A |
T |
11: 78,836,092 (GRCm39) |
E385V |
possibly damaging |
Het |
| Nsl1 |
T |
G |
1: 190,795,471 (GRCm39) |
|
probably null |
Het |
| Nup93 |
T |
C |
8: 95,041,310 (GRCm39) |
|
probably null |
Het |
| Or5d45 |
A |
T |
2: 88,153,107 (GRCm39) |
M314K |
probably benign |
Het |
| Pcna-ps2 |
T |
G |
19: 9,260,861 (GRCm39) |
M40R |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,377,407 (GRCm39) |
E148G |
probably damaging |
Het |
| Pirt |
A |
G |
11: 66,816,737 (GRCm39) |
E16G |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,148,944 (GRCm39) |
Y566H |
probably damaging |
Het |
| Psg17 |
A |
C |
7: 18,548,565 (GRCm39) |
V402G |
probably damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rassf7 |
A |
G |
7: 140,797,360 (GRCm39) |
E191G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,353,111 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
C |
T |
5: 53,221,370 (GRCm39) |
T272I |
probably damaging |
Het |
| Sos2 |
T |
C |
12: 69,664,935 (GRCm39) |
E332G |
probably benign |
Het |
| Spdye4c |
T |
C |
2: 128,438,430 (GRCm39) |
Y263H |
probably damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,704,793 (GRCm39) |
V42I |
probably benign |
Het |
| Trpv5 |
T |
A |
6: 41,634,941 (GRCm39) |
N463Y |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,595,061 (GRCm39) |
Q3831L |
probably benign |
Het |
| Wdr41 |
C |
A |
13: 95,133,812 (GRCm39) |
|
probably null |
Het |
| Zfand1 |
A |
G |
3: 10,405,884 (GRCm39) |
C246R |
probably benign |
Het |
|
| Other mutations in Esrp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01320:Esrp1
|
APN |
4 |
11,384,374 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02251:Esrp1
|
APN |
4 |
11,361,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02669:Esrp1
|
APN |
4 |
11,386,324 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Barley
|
UTSW |
4 |
11,365,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
korn
|
UTSW |
4 |
11,357,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
triaka
|
UTSW |
4 |
11,379,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1109:Esrp1
|
UTSW |
4 |
11,365,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Esrp1
|
UTSW |
4 |
11,379,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2189:Esrp1
|
UTSW |
4 |
11,357,603 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2255:Esrp1
|
UTSW |
4 |
11,365,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5919:Esrp1
|
UTSW |
4 |
11,344,146 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5924:Esrp1
|
UTSW |
4 |
11,361,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6042:Esrp1
|
UTSW |
4 |
11,357,580 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6749:Esrp1
|
UTSW |
4 |
11,357,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7392:Esrp1
|
UTSW |
4 |
11,338,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7607:Esrp1
|
UTSW |
4 |
11,384,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7985:Esrp1
|
UTSW |
4 |
11,367,153 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8050:Esrp1
|
UTSW |
4 |
11,338,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9512:Esrp1
|
UTSW |
4 |
11,365,449 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1176:Esrp1
|
UTSW |
4 |
11,385,765 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
Z1176:Esrp1
|
UTSW |
4 |
11,384,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCTCAGAAAGAACCAGG -3'
(R):5'- GCTAACCATGTCTTGCACTGTG -3'
Sequencing Primer
(F):5'- TCAGAAAGAACCAGGGGCCC -3'
(R):5'- ATTGTCACTTTGCATGCTTTGTAAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation