Incidental Mutation 'IGL02669:Esrp1'
ID |
302845 |
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 # |
IGL02669
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
11331933-11386783 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11386324 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 38
(V38A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103949
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043781]
[ENSMUST00000108310]
[ENSMUST00000108311]
[ENSMUST00000108313]
[ENSMUST00000155519]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043781
AA Change: V38A
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000037921 Gene: ENSMUSG00000040728 AA Change: V38A
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: ENSMUST00000108310
AA Change: V38A
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103946 Gene: ENSMUSG00000040728 AA Change: V38A
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: ENSMUST00000108311
AA Change: V38A
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103947 Gene: ENSMUSG00000040728 AA Change: V38A
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 |
possibly damaging
Transcript: ENSMUST00000108313
AA Change: V38A
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103949 Gene: ENSMUSG00000040728 AA Change: V38A
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: ENSMUST00000155519
AA Change: V24A
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000119598 Gene: ENSMUSG00000040728 AA Change: V24A
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930003A15Rik |
T |
A |
16: 19,702,505 (GRCm39) |
|
noncoding transcript |
Het |
Acap1 |
G |
A |
11: 69,785,421 (GRCm39) |
|
probably benign |
Het |
Adam7 |
T |
C |
14: 68,745,343 (GRCm39) |
Y627C |
probably damaging |
Het |
Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
Aoc1l2 |
A |
G |
6: 48,908,407 (GRCm39) |
Y469C |
probably damaging |
Het |
Bace2 |
T |
C |
16: 97,238,093 (GRCm39) |
*515R |
probably null |
Het |
Baiap3 |
C |
T |
17: 25,463,322 (GRCm39) |
V958M |
probably damaging |
Het |
Brms1l |
A |
T |
12: 55,888,401 (GRCm39) |
D63V |
probably damaging |
Het |
Cnksr1 |
A |
T |
4: 133,957,774 (GRCm39) |
I435N |
probably damaging |
Het |
Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
Cpne6 |
A |
G |
14: 55,751,283 (GRCm39) |
N201S |
probably benign |
Het |
Dnajc12 |
A |
G |
10: 63,233,071 (GRCm39) |
S71G |
probably damaging |
Het |
Dpp3 |
A |
T |
19: 4,973,710 (GRCm39) |
|
probably null |
Het |
E2f3 |
A |
G |
13: 30,100,974 (GRCm39) |
S239P |
probably benign |
Het |
Eif3e |
T |
A |
15: 43,146,088 (GRCm39) |
M1L |
probably benign |
Het |
Erap1 |
A |
G |
13: 74,823,987 (GRCm39) |
T867A |
probably benign |
Het |
Erlin1 |
G |
T |
19: 44,027,658 (GRCm39) |
A260E |
probably damaging |
Het |
Foxn1 |
T |
C |
11: 78,261,986 (GRCm39) |
R128G |
probably damaging |
Het |
Gnb3 |
A |
G |
6: 124,814,688 (GRCm39) |
L70P |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,802,806 (GRCm39) |
V1139A |
probably damaging |
Het |
Gpt2 |
G |
T |
8: 86,249,908 (GRCm39) |
M463I |
probably benign |
Het |
Gtpbp3 |
C |
A |
8: 71,943,546 (GRCm39) |
A201D |
probably damaging |
Het |
Jaml |
A |
C |
9: 45,015,489 (GRCm39) |
K331T |
possibly damaging |
Het |
Kntc1 |
G |
A |
5: 123,893,727 (GRCm39) |
|
probably benign |
Het |
Ksr2 |
A |
G |
5: 117,693,446 (GRCm39) |
K298R |
probably damaging |
Het |
Mfge8 |
T |
C |
7: 78,795,429 (GRCm39) |
D46G |
probably benign |
Het |
Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
Nup88 |
A |
G |
11: 70,847,110 (GRCm39) |
M300T |
probably damaging |
Het |
Or4c118 |
T |
A |
2: 88,974,564 (GRCm39) |
K268* |
probably null |
Het |
Or4k48 |
A |
T |
2: 111,476,236 (GRCm39) |
Y35* |
probably null |
Het |
Or52b4 |
A |
G |
7: 102,184,868 (GRCm39) |
M305V |
probably benign |
Het |
Prdm1 |
A |
T |
10: 44,315,880 (GRCm39) |
M752K |
probably benign |
Het |
Prl3b1 |
A |
T |
13: 27,429,795 (GRCm39) |
M78L |
probably benign |
Het |
Ralgps2 |
T |
C |
1: 156,660,268 (GRCm39) |
E268G |
probably damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Slc4a5 |
A |
G |
6: 83,240,525 (GRCm39) |
D279G |
possibly damaging |
Het |
Tanc1 |
T |
A |
2: 59,630,330 (GRCm39) |
I770K |
probably damaging |
Het |
Tbl2 |
G |
A |
5: 135,181,852 (GRCm39) |
R64H |
probably damaging |
Het |
Tg |
T |
A |
15: 66,620,575 (GRCm39) |
|
probably benign |
Het |
Tmprss13 |
A |
T |
9: 45,243,824 (GRCm39) |
I187F |
probably benign |
Het |
Tubb3 |
T |
C |
8: 124,147,856 (GRCm39) |
L263P |
probably damaging |
Het |
Vmn2r109 |
T |
G |
17: 20,774,518 (GRCm39) |
D279A |
possibly damaging |
Het |
Vps33b |
A |
G |
7: 79,925,786 (GRCm39) |
|
probably benign |
Het |
Yeats2 |
A |
G |
16: 20,005,033 (GRCm39) |
S338G |
probably benign |
Het |
Zfp142 |
T |
C |
1: 74,610,432 (GRCm39) |
Q1121R |
probably benign |
Het |
Zic1 |
G |
T |
9: 91,246,486 (GRCm39) |
H195Q |
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 |
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 |