Incidental Mutation 'IGL02669:Esrp1'
ID302845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esrp1
Ensembl Gene ENSMUSG00000040728
Gene Nameepithelial splicing regulatory protein 1
Synonyms2210008M09Rik, Rbm35a
Accession Numbers

Genbank: NM_194055; MGI: 1917326

Is this an essential gene? Possibly non essential (E-score: 0.335) question?
Stock #IGL02669
Quality Score
Status
Chromosome4
Chromosomal Location11331933-11386783 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 11386324 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 38 (V38A)
Ref Sequence ENSEMBL: ENSMUSP00000103946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043781] [ENSMUST00000108310] [ENSMUST00000108311] [ENSMUST00000108313] [ENSMUST00000155519]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A G 6: 48,931,473 Y469C probably damaging Het
A930003A15Rik T A 16: 19,883,755 E41V noncoding transcript Het
Acap1 G A 11: 69,894,595 probably benign Het
Adam7 T C 14: 68,507,894 Y627C probably damaging Het
Agrn C T 4: 156,174,561 probably benign Het
Bace2 T C 16: 97,436,893 *515R probably null Het
Baiap3 C T 17: 25,244,348 V958M probably damaging Het
Brms1l A T 12: 55,841,616 D63V probably damaging Het
Cnksr1 A T 4: 134,230,463 I435N probably damaging Het
Col14a1 G A 15: 55,418,782 G817E unknown Het
Cpne6 A G 14: 55,513,826 N201S probably benign Het
Dnajc12 A G 10: 63,397,292 S71G probably damaging Het
Dpp3 A T 19: 4,923,682 probably null Het
E2f3 A G 13: 29,916,991 S239P probably benign Het
Eif3e T A 15: 43,282,692 M1L probably benign Het
Erap1 A G 13: 74,675,868 T867A probably benign Het
Erlin1 G T 19: 44,039,219 A260E probably damaging Het
Foxn1 T C 11: 78,371,160 R128G probably damaging Het
Gnb3 A G 6: 124,837,725 L70P probably benign Het
Gon4l T C 3: 88,895,499 V1139A probably damaging Het
Gpt2 G T 8: 85,523,279 M463I probably benign Het
Gtpbp3 C A 8: 71,490,902 A201D probably damaging Het
Jaml A C 9: 45,104,191 K331T possibly damaging Het
Kntc1 G A 5: 123,755,664 probably benign Het
Ksr2 A G 5: 117,555,381 K298R probably damaging Het
Mfge8 T C 7: 79,145,681 D46G probably benign Het
Ncam2 T A 16: 81,517,541 N468K probably benign Het
Nup88 A G 11: 70,956,284 M300T probably damaging Het
Olfr1223 T A 2: 89,144,220 K268* probably null Het
Olfr1298 A T 2: 111,645,891 Y35* probably null Het
Olfr547 A G 7: 102,535,661 M305V probably benign Het
Prdm1 A T 10: 44,439,884 M752K probably benign Het
Prl3b1 A T 13: 27,245,812 M78L probably benign Het
Ralgps2 T C 1: 156,832,698 E268G probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Slc4a5 A G 6: 83,263,543 D279G possibly damaging Het
Tanc1 T A 2: 59,799,986 I770K probably damaging Het
Tbl2 G A 5: 135,152,998 R64H probably damaging Het
Tg T A 15: 66,748,726 probably benign Het
Tmprss13 A T 9: 45,332,526 I187F probably benign Het
Tubb3 T C 8: 123,421,117 L263P probably damaging Het
Vmn2r109 T G 17: 20,554,256 D279A possibly damaging Het
Vps33b A G 7: 80,276,038 probably benign Het
Yeats2 A G 16: 20,186,283 S338G probably benign Het
Zfp142 T C 1: 74,571,273 Q1121R probably benign Het
Zic1 G T 9: 91,364,433 H195Q possibly damaging Het
Other mutations in Esrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Esrp1 APN 4 11384374 missense possibly damaging 0.47
IGL02251:Esrp1 APN 4 11361202 missense probably damaging 1.00
Barley UTSW 4 11365205 missense probably benign 0.13
triaka UTSW 4 11379300 missense probably benign 0.05
R1109:Esrp1 UTSW 4 11365205 missense probably damaging 1.00
R1531:Esrp1 UTSW 4 11379375 missense probably damaging 0.99
R2189:Esrp1 UTSW 4 11357603 missense probably benign 0.04
R2255:Esrp1 UTSW 4 11365211 missense probably damaging 0.99
R5919:Esrp1 UTSW 4 11344146 missense probably damaging 0.96
R5924:Esrp1 UTSW 4 11361174 missense probably damaging 1.00
R6042:Esrp1 UTSW 4 11357580 missense possibly damaging 0.93
R6749:Esrp1 UTSW 4 11357519 missense probably damaging 1.00
R6817:Esrp1 UTSW 4 11357552 missense probably damaging 1.00
Posted OnApr 16, 2015