Incidental Mutation 'IGL02251:Esrp1'
| ID |
286399 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Esrp1
|
| Ensembl Gene |
ENSMUSG00000040728 |
| Gene Name |
epithelial splicing regulatory protein 1 |
| Synonyms |
2210008M09Rik, Rbm35a |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.511)
|
| Stock # |
IGL02251
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
11331933-11386783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 11361202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 315
(R315C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119598
(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: R329C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037921
Gene: ENSMUSG00000040728
AA Change: R329C
| 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: R329C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103946
Gene: ENSMUSG00000040728
AA Change: R329C
| 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: R329C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103947
Gene: ENSMUSG00000040728
AA Change: R329C
| 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: R329C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103949
Gene: ENSMUSG00000040728
AA Change: R329C
| 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: R164C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121117
Gene: ENSMUSG00000040728
AA Change: R164C
| 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 damaging
Transcript: ENSMUST00000155519
AA Change: R315C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119598
Gene: ENSMUSG00000040728
AA Change: R315C
| 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 |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,626,840 (GRCm39) |
C1406R |
probably damaging |
Het |
| Acp2 |
T |
A |
2: 91,038,678 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Arhgef11 |
C |
T |
3: 87,590,854 (GRCm39) |
R32C |
probably damaging |
Het |
| Armc6 |
A |
T |
8: 70,677,870 (GRCm39) |
L153* |
probably null |
Het |
| Btnl2 |
G |
T |
17: 34,582,213 (GRCm39) |
G260* |
probably null |
Het |
| Ccnf |
A |
G |
17: 24,445,513 (GRCm39) |
S551P |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,882,382 (GRCm39) |
S37P |
probably benign |
Het |
| Cntnap3 |
T |
A |
13: 64,909,850 (GRCm39) |
T752S |
probably damaging |
Het |
| Crispld1 |
A |
G |
1: 17,799,064 (GRCm39) |
M62V |
probably benign |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Dph6 |
A |
G |
2: 114,366,004 (GRCm39) |
|
probably null |
Het |
| Dpp3 |
T |
G |
19: 4,968,343 (GRCm39) |
H243P |
probably benign |
Het |
| Eif3j2 |
T |
A |
18: 43,610,431 (GRCm39) |
K127N |
probably damaging |
Het |
| Gm973 |
A |
C |
1: 59,621,582 (GRCm39) |
H574P |
probably benign |
Het |
| Gprasp1 |
G |
A |
X: 134,701,288 (GRCm39) |
V494I |
probably benign |
Het |
| Hbb-bh1 |
T |
A |
7: 103,492,017 (GRCm39) |
K66* |
probably null |
Het |
| Hoxb9 |
T |
A |
11: 96,165,651 (GRCm39) |
M240K |
probably damaging |
Het |
| Irf2 |
T |
C |
8: 47,260,788 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
A |
G |
7: 30,766,688 (GRCm39) |
|
probably null |
Het |
| Mylk3 |
C |
T |
8: 86,081,805 (GRCm39) |
V328M |
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,798,873 (GRCm39) |
E38G |
probably null |
Het |
| Or4k40 |
A |
C |
2: 111,250,657 (GRCm39) |
L213R |
probably damaging |
Het |
| Or51l14 |
A |
T |
7: 103,100,978 (GRCm39) |
K145* |
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,298,612 (GRCm39) |
F346L |
probably damaging |
Het |
| Prex1 |
T |
C |
2: 166,419,806 (GRCm39) |
Y1120C |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,237 (GRCm39) |
T742A |
probably benign |
Het |
| Scai |
A |
T |
2: 38,989,429 (GRCm39) |
D401E |
probably benign |
Het |
| Scd1 |
T |
C |
19: 44,386,533 (GRCm39) |
H298R |
probably damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,235 (GRCm39) |
R224G |
probably benign |
Het |
| Slc45a1 |
A |
G |
4: 150,723,176 (GRCm39) |
|
probably benign |
Het |
| Smim10l1 |
G |
T |
6: 133,082,471 (GRCm39) |
R6L |
probably damaging |
Het |
| Spag5 |
T |
G |
11: 78,210,860 (GRCm39) |
F921C |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,227,186 (GRCm39) |
S667P |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,524 (GRCm39) |
I278V |
probably benign |
Het |
| Thbs1 |
G |
A |
2: 117,943,999 (GRCm39) |
D206N |
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,058,256 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,014,231 (GRCm39) |
N341S |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,399,732 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation