Incidental Mutation 'R2189:Esrp1'
| ID |
237959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esrp1
|
| Ensembl Gene |
ENSMUSG00000040728 |
| Gene Name |
epithelial splicing regulatory protein 1 |
| Synonyms |
2210008M09Rik, Rbm35a |
| MMRRC Submission |
040191-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R2189 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
11331933-11386783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11357603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 503
(M503K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043781]
[ENSMUST00000108310]
[ENSMUST00000108311]
[ENSMUST00000108313]
[ENSMUST00000147342]
[ENSMUST00000155519]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043781
AA Change: M503K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000037921
Gene: ENSMUSG00000040728
AA Change: M503K
| 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 benign
Transcript: ENSMUST00000108310
AA Change: M503K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103946
Gene: ENSMUSG00000040728
AA Change: M503K
| 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 benign
Transcript: ENSMUST00000108311
AA Change: M503K
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103947
Gene: ENSMUSG00000040728
AA Change: M503K
| 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 benign
Transcript: ENSMUST00000108313
AA Change: M503K
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103949
Gene: ENSMUSG00000040728
AA Change: M503K
| 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 benign
Transcript: ENSMUST00000147342
AA Change: M338K
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000121117
Gene: ENSMUSG00000040728
AA Change: M338K
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
C |
7: 78,747,839 (GRCm39) |
G870A |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,971,750 (GRCm39) |
W12R |
probably benign |
Het |
| Bsph1 |
G |
A |
7: 13,204,254 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,863,431 (GRCm39) |
H1200Q |
possibly damaging |
Het |
| Clptm1 |
A |
T |
7: 19,371,070 (GRCm39) |
Y355* |
probably null |
Het |
| Cry2 |
T |
C |
2: 92,242,037 (GRCm39) |
E572G |
possibly damaging |
Het |
| Dlk1 |
G |
A |
12: 109,420,975 (GRCm39) |
|
probably null |
Het |
| Eral1 |
A |
G |
11: 77,966,657 (GRCm39) |
V201A |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,371,607 (GRCm39) |
M1I |
probably null |
Het |
| Flt4 |
G |
A |
11: 49,526,525 (GRCm39) |
A835T |
probably benign |
Het |
| H2bc15 |
A |
G |
13: 21,938,447 (GRCm39) |
D52G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,244 (GRCm39) |
S562G |
probably null |
Het |
| Icosl |
A |
G |
10: 77,909,759 (GRCm39) |
T235A |
possibly damaging |
Het |
| Itga6 |
A |
G |
2: 71,655,961 (GRCm39) |
D295G |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lipa |
A |
T |
19: 34,502,199 (GRCm39) |
L15Q |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,667,297 (GRCm39) |
E218G |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,519,970 (GRCm39) |
|
probably null |
Het |
| Mmadhc |
A |
C |
2: 50,178,958 (GRCm39) |
C153W |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,060,621 (GRCm39) |
Q729L |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,333,924 (GRCm39) |
Q389L |
probably benign |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,412 (GRCm39) |
D76G |
probably damaging |
Het |
| Or5p4 |
A |
T |
7: 107,680,243 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or5p50 |
T |
C |
7: 107,421,822 (GRCm39) |
I285V |
probably benign |
Het |
| Pml |
T |
C |
9: 58,142,157 (GRCm39) |
N225S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Scap |
T |
A |
9: 110,206,761 (GRCm39) |
I402N |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,743,908 (GRCm39) |
L886P |
probably damaging |
Het |
| Sugct |
T |
C |
13: 17,836,851 (GRCm39) |
I104V |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,147,681 (GRCm39) |
Q88R |
probably damaging |
Het |
| Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
| Tnk2 |
C |
T |
16: 32,490,239 (GRCm39) |
L381F |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,254,290 (GRCm39) |
V1454I |
probably benign |
Het |
| V1ra8 |
A |
C |
6: 90,179,944 (GRCm39) |
D49A |
probably damaging |
Het |
| Vmn2r5 |
A |
C |
3: 64,417,014 (GRCm39) |
M48R |
probably benign |
Het |
| Yars1 |
A |
G |
4: 129,099,982 (GRCm39) |
I227V |
probably damaging |
Het |
| Zfp850 |
C |
A |
7: 27,688,480 (GRCm39) |
R576L |
probably benign |
Het |
| Zfpm2 |
T |
A |
15: 40,964,579 (GRCm39) |
F223I |
possibly damaging |
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 |
|
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 |
|
R6817:Esrp1
|
UTSW |
4 |
11,357,552 (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'- GTGATGAAAGCAGCTTAAGCAC -3'
(R):5'- CGGTCACCCAGATTTTGTGG -3'
Sequencing Primer
(F):5'- GATGAAAGCAGCTTAAGCACCTACC -3'
(R):5'- GGTCACCCAGATTTTGTGGCTAAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation