Incidental Mutation 'IGL01320:Esrp1'
| ID |
74010 |
| 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 # |
IGL01320
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
11331933-11386783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11384374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 103
(I103T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043781]
[ENSMUST00000108310]
[ENSMUST00000108311]
[ENSMUST00000108313]
[ENSMUST00000155519]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043781
AA Change: I117T
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000037921
Gene: ENSMUSG00000040728
AA Change: I117T
| 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: I117T
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103946
Gene: ENSMUSG00000040728
AA Change: I117T
| 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: I117T
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103947
Gene: ENSMUSG00000040728
AA Change: I117T
| 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: I117T
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103949
Gene: ENSMUSG00000040728
AA Change: I117T
| 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 |
possibly damaging
Transcript: ENSMUST00000155519
AA Change: I103T
PolyPhen 2
Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119598
Gene: ENSMUSG00000040728
AA Change: I103T
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,552,551 (GRCm39) |
E229G |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,988 (GRCm39) |
S1410T |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,039,159 (GRCm39) |
|
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,902,614 (GRCm39) |
I421T |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
| Crnn |
T |
C |
3: 93,055,519 (GRCm39) |
S102P |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,897,648 (GRCm39) |
I115T |
probably damaging |
Het |
| Daw1 |
T |
C |
1: 83,175,901 (GRCm39) |
I213T |
possibly damaging |
Het |
| Dcp1b |
T |
A |
6: 119,192,036 (GRCm39) |
S317R |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
| E2f7 |
G |
A |
10: 110,589,954 (GRCm39) |
V36I |
probably benign |
Het |
| Hap1 |
G |
A |
11: 100,240,206 (GRCm39) |
T530I |
probably damaging |
Het |
| Hps3 |
T |
C |
3: 20,084,633 (GRCm39) |
N185S |
probably benign |
Het |
| Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,062,040 (GRCm39) |
T332A |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,027,784 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,186,991 (GRCm39) |
V11A |
probably benign |
Het |
| Nipsnap2 |
C |
T |
5: 129,821,828 (GRCm39) |
T108M |
probably damaging |
Het |
| Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,362,629 (GRCm39) |
M84K |
probably benign |
Het |
| Ppid |
A |
G |
3: 79,502,584 (GRCm39) |
E46G |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,866,375 (GRCm39) |
L626P |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,240,606 (GRCm39) |
I410F |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,517 (GRCm39) |
|
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| St8sia5 |
A |
T |
18: 77,342,318 (GRCm39) |
T307S |
probably damaging |
Het |
| Stac2 |
T |
C |
11: 97,930,921 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
C |
17: 3,556,020 (GRCm39) |
L77P |
probably damaging |
Het |
| Tmem87b |
G |
T |
2: 128,673,136 (GRCm39) |
G190V |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,954,565 (GRCm39) |
S32P |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,803,219 (GRCm39) |
|
probably null |
Het |
| Wnt1 |
C |
A |
15: 98,690,404 (GRCm39) |
D244E |
possibly damaging |
Het |
|
| Other mutations in Esrp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation