Incidental Mutation 'R6749:Esrp1'
| ID |
532878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esrp1
|
| Ensembl Gene |
ENSMUSG00000040728 |
| Gene Name |
epithelial splicing regulatory protein 1 |
| Synonyms |
2210008M09Rik, Rbm35a |
| MMRRC Submission |
044866-MU
|
| Accession Numbers |
Genbank: NM_194055; MGI: 1917326
|
| Essential gene? |
Possibly non essential
(E-score: 0.327)
|
| Stock # |
R6749 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
11331933-11386783 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11357519 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 366
(V366E)
|
| 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: V531E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037921
Gene: ENSMUSG00000040728
AA Change: V531E
| 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: V531E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103946
Gene: ENSMUSG00000040728
AA Change: V531E
| 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: V531E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103947
Gene: ENSMUSG00000040728
AA Change: V531E
| 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: V531E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103949
Gene: ENSMUSG00000040728
AA Change: V531E
| 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: V366E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121117
Gene: ENSMUSG00000040728
AA Change: V366E
| 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 |
0.7654 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (47/47) |
| 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 |
|---|
| Aatk |
A |
G |
11: 120,010,774 (GRCm38) |
V875A |
possibly damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,954,557 (GRCm38) |
F156L |
probably damaging |
Het |
| Bdh2 |
T |
A |
3: 135,300,691 (GRCm38) |
S184T |
probably damaging |
Het |
| Bmp5 |
A |
T |
9: 75,776,093 (GRCm38) |
M1L |
probably benign |
Het |
| Cacfd1 |
T |
C |
2: 27,018,455 (GRCm38) |
Y134H |
probably damaging |
Het |
| Camk1 |
G |
A |
6: 113,334,525 (GRCm38) |
P340L |
probably benign |
Het |
| Ccdc105 |
A |
C |
10: 78,752,838 (GRCm38) |
M46R |
possibly damaging |
Het |
| Cdc14a |
T |
C |
3: 116,297,158 (GRCm38) |
H424R |
possibly damaging |
Het |
| Cntfr |
T |
A |
4: 41,663,232 (GRCm38) |
T192S |
possibly damaging |
Het |
| Erbin |
G |
T |
13: 103,834,377 (GRCm38) |
S910R |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,372,486 (GRCm38) |
N340Y |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,978,394 (GRCm38) |
S1686T |
possibly damaging |
Het |
| Gata5 |
A |
G |
2: 180,334,350 (GRCm38) |
L7S |
probably damaging |
Het |
| Hgf |
T |
A |
5: 16,613,642 (GRCm38) |
|
probably null |
Het |
| Ift140 |
A |
G |
17: 25,098,916 (GRCm38) |
E1458G |
probably damaging |
Het |
| Ift57 |
G |
A |
16: 49,760,984 (GRCm38) |
G209R |
probably benign |
Het |
| Il12rb2 |
G |
T |
6: 67,361,966 (GRCm38) |
|
probably benign |
Het |
| Krt78 |
G |
A |
15: 101,950,923 (GRCm38) |
R280C |
probably damaging |
Het |
| Lipc |
A |
G |
9: 70,823,386 (GRCm38) |
I88T |
probably damaging |
Het |
| Lrmda |
G |
T |
14: 22,027,276 (GRCm38) |
R27L |
probably benign |
Het |
| Lrrc37a |
T |
G |
11: 103,502,097 (GRCm38) |
E834A |
probably benign |
Het |
| Mmachc |
C |
A |
4: 116,704,541 (GRCm38) |
R132L |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,714,110 (GRCm38) |
Y88H |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,701,503 (GRCm38) |
R878Q |
possibly damaging |
Het |
| Olfr1392 |
A |
G |
11: 49,294,050 (GRCm38) |
H243R |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,795,853 (GRCm38) |
T289A |
possibly damaging |
Het |
| Pcdhgb4 |
G |
T |
18: 37,721,229 (GRCm38) |
A226S |
possibly damaging |
Het |
| Pde4c |
T |
C |
8: 70,746,010 (GRCm38) |
V167A |
probably damaging |
Het |
| Pigr |
A |
G |
1: 130,846,548 (GRCm38) |
T422A |
probably benign |
Het |
| Pmp2 |
T |
C |
3: 10,182,482 (GRCm38) |
Y49C |
probably benign |
Het |
| Prpf39 |
A |
G |
12: 65,056,274 (GRCm38) |
I441V |
possibly damaging |
Het |
| Ptprs |
A |
G |
17: 56,437,884 (GRCm38) |
V284A |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,543,340 (GRCm38) |
E354G |
probably damaging |
Het |
| Sema4b |
T |
A |
7: 80,220,201 (GRCm38) |
D412E |
possibly damaging |
Het |
| Siglecg |
A |
G |
7: 43,408,979 (GRCm38) |
I97V |
probably benign |
Het |
| Slc4a3 |
C |
T |
1: 75,554,538 (GRCm38) |
R792* |
probably null |
Het |
| Slc6a20a |
A |
G |
9: 123,637,070 (GRCm38) |
C569R |
probably damaging |
Het |
| Spata19 |
T |
C |
9: 27,397,980 (GRCm38) |
V59A |
probably benign |
Het |
| Sult2a3 |
T |
A |
7: 14,082,704 (GRCm38) |
Y183F |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,158,082 (GRCm38) |
T194M |
probably damaging |
Het |
| Tmem63c |
T |
A |
12: 87,075,665 (GRCm38) |
N412K |
probably damaging |
Het |
| Trav5-1 |
T |
C |
14: 52,622,945 (GRCm38) |
I69T |
possibly damaging |
Het |
| Trim68 |
T |
C |
7: 102,678,783 (GRCm38) |
D321G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,865,256 (GRCm38) |
|
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,666,713 (GRCm38) |
V109A |
probably damaging |
Het |
| Vmn2r96 |
C |
T |
17: 18,598,090 (GRCm38) |
P643L |
probably damaging |
Het |
| Zfpm2 |
G |
T |
15: 40,954,708 (GRCm38) |
V146F |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 167,056,599 (GRCm38) |
K135R |
probably benign |
Het |
|
| Other mutations in Esrp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01320:Esrp1
|
APN |
4 |
11,384,374 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02251:Esrp1
|
APN |
4 |
11,361,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02669:Esrp1
|
APN |
4 |
11,386,324 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
Barley
|
UTSW |
4 |
11,365,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
korn
|
UTSW |
4 |
11,357,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
triaka
|
UTSW |
4 |
11,379,300 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1109:Esrp1
|
UTSW |
4 |
11,365,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1531:Esrp1
|
UTSW |
4 |
11,379,375 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2189:Esrp1
|
UTSW |
4 |
11,357,603 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2255:Esrp1
|
UTSW |
4 |
11,365,211 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5919:Esrp1
|
UTSW |
4 |
11,344,146 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5924:Esrp1
|
UTSW |
4 |
11,361,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6042:Esrp1
|
UTSW |
4 |
11,357,580 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6817:Esrp1
|
UTSW |
4 |
11,357,552 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7392:Esrp1
|
UTSW |
4 |
11,338,809 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7607:Esrp1
|
UTSW |
4 |
11,384,449 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7985:Esrp1
|
UTSW |
4 |
11,367,153 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8050:Esrp1
|
UTSW |
4 |
11,338,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9512:Esrp1
|
UTSW |
4 |
11,365,449 (GRCm38) |
missense |
probably benign |
0.44 |
|
Z1176:Esrp1
|
UTSW |
4 |
11,385,765 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
Z1176:Esrp1
|
UTSW |
4 |
11,384,396 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGAGTGTCCGCAACCAAG -3'
(R):5'- AGACAGTCGCCTTTTGTTTGTATTC -3'
Sequencing Primer
(F):5'- TCAGATGGGAAAGCCTTATGTACCC -3'
(R):5'- GTCGCCTTTTGTTTGTATTCTCCCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation