Incidental Mutation 'R5919:Esrp1'
ID 462551
Institutional Source Beutler Lab
Gene Symbol Esrp1
Ensembl Gene ENSMUSG00000040728
Gene Name epithelial splicing regulatory protein 1
Synonyms 2210008M09Rik, Rbm35a
MMRRC Submission 044116-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.511) question?
Stock # R5919 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 11331933-11386783 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11344146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 642 (V642A)
Ref Sequence ENSEMBL: ENSMUSP00000037921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043781] [ENSMUST00000108310] [ENSMUST00000108311] [ENSMUST00000108313] [ENSMUST00000147342]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043781
AA Change: V642A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037921
Gene: ENSMUSG00000040728
AA Change: V642A

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: V642A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103946
Gene: ENSMUSG00000040728
AA Change: V642A

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: V646A

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103947
Gene: ENSMUSG00000040728
AA Change: V646A

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 probably benign
Transcript: ENSMUST00000108313
SMART Domains Protein: ENSMUSP00000103949
Gene: ENSMUSG00000040728

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 noncoding transcript
Transcript: ENSMUST00000127399
Predicted Effect probably benign
Transcript: ENSMUST00000147342
SMART Domains Protein: ENSMUSP00000121117
Gene: ENSMUSG00000040728

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000181105
Meta Mutation Damage Score 0.1150 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (68/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik T C 1: 151,791,249 (GRCm39) D104G probably damaging Het
6030458C11Rik A T 15: 12,823,754 (GRCm39) H40Q probably damaging Het
Abcc3 A G 11: 94,248,132 (GRCm39) V1156A possibly damaging Het
Adgrl1 G T 8: 84,659,239 (GRCm39) D648Y probably damaging Het
Adgrl3 C A 5: 81,794,417 (GRCm39) D547E probably benign Het
Aebp1 A T 11: 5,821,421 (GRCm39) M607L probably benign Het
Angptl1 T C 1: 156,686,116 (GRCm39) Y401H probably damaging Het
Arl4d A G 11: 101,557,962 (GRCm39) T163A probably benign Het
Bltp2 A T 11: 78,180,176 (GRCm39) N2152I probably damaging Het
Camk2b A G 11: 5,929,718 (GRCm39) S331P probably damaging Het
Ccdc15 C T 9: 37,231,692 (GRCm39) probably null Het
Ccdc168 T C 1: 44,096,146 (GRCm39) N1651D probably benign Het
Ccdc38 A T 10: 93,414,700 (GRCm39) I370F possibly damaging Het
Clstn1 A T 4: 149,719,703 (GRCm39) H416L probably damaging Het
Col12a1 C T 9: 79,509,580 (GRCm39) R3030H probably damaging Het
Cop1 T A 1: 159,147,294 (GRCm39) V540E probably damaging Het
Crebbp C T 16: 3,925,991 (GRCm39) R710H probably damaging Het
Dsel T C 1: 111,787,983 (GRCm39) I851V probably benign Het
Fanci T C 7: 79,094,486 (GRCm39) L1139P probably damaging Het
Fat1 T C 8: 45,479,910 (GRCm39) probably null Het
Fsip2 A G 2: 82,822,953 (GRCm39) N6229D possibly damaging Het
Garin5b T C 7: 4,773,385 (GRCm39) E144G possibly damaging Het
Gas2l3 G A 10: 89,252,917 (GRCm39) R243W probably damaging Het
Hectd1 G A 12: 51,815,855 (GRCm39) R1406W probably damaging Het
Hecw2 T C 1: 53,976,249 (GRCm39) H180R probably damaging Het
Ift172 T A 5: 31,418,006 (GRCm39) Q1261L possibly damaging Het
Il17rd T C 14: 26,818,001 (GRCm39) V230A probably damaging Het
Kif17 A T 4: 137,997,202 (GRCm39) I42F probably damaging Het
Kif24 T C 4: 41,394,477 (GRCm39) K799E possibly damaging Het
Lrp4 A T 2: 91,303,552 (GRCm39) I84F probably damaging Het
Mplkipl1 T C 19: 61,163,907 (GRCm39) Y176C probably damaging Het
Mroh7 T C 4: 106,551,509 (GRCm39) probably null Het
Ms4a14 C A 19: 11,291,661 (GRCm39) V13F possibly damaging Het
Muc2 T A 7: 141,281,171 (GRCm39) V445D probably damaging Het
Muc6 A T 7: 141,227,837 (GRCm39) M1317K possibly damaging Het
Myof T A 19: 38,012,818 (GRCm39) D39V possibly damaging Het
Ndufaf1 A C 2: 119,490,709 (GRCm39) V117G possibly damaging Het
Ndufs1 C G 1: 63,182,991 (GRCm39) *728S probably null Het
Nup188 A T 2: 30,229,906 (GRCm39) N1375Y probably damaging Het
Oasl1 T A 5: 115,066,329 (GRCm39) I149N probably damaging Het
Or9i16 A G 19: 13,865,209 (GRCm39) Y122H probably damaging Het
Pelo C A 13: 115,225,845 (GRCm39) C204F possibly damaging Het
Phf11d A C 14: 59,593,712 (GRCm39) probably benign Het
Rars2 T C 4: 34,657,232 (GRCm39) L526P probably damaging Het
Rrp1 A G 10: 78,241,422 (GRCm39) L177P probably damaging Het
S100a9 A G 3: 90,602,495 (GRCm39) L33P probably damaging Het
Slc4a7 A G 14: 14,791,092 (GRCm38) D1045G probably benign Het
Slc9a3 C T 13: 74,306,859 (GRCm39) T328I probably damaging Het
Spata6 A G 4: 111,636,405 (GRCm39) D232G probably damaging Het
Taar6 A T 10: 23,861,168 (GRCm39) I126N probably damaging Het
Tmeff2 C A 1: 51,171,311 (GRCm39) C182* probably null Het
Tmem178 T A 17: 81,297,187 (GRCm39) C190S probably damaging Het
Trerf1 T G 17: 47,634,208 (GRCm39) noncoding transcript Het
Trgv6 A G 13: 19,374,782 (GRCm39) Y16C probably benign Het
Ubn2 A G 6: 38,468,423 (GRCm39) I1046V possibly damaging Het
Vmn1r221 A T 13: 23,401,466 (GRCm39) noncoding transcript Het
Vmn2r2 T C 3: 64,044,723 (GRCm39) N141S probably benign Het
Zfp64 T A 2: 168,768,419 (GRCm39) N398Y probably benign Het
Zfp787 T G 7: 6,135,834 (GRCm39) Q139P probably damaging Het
Other mutations in Esrp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGCCCTAATCGTGTCAAGAG -3'
(R):5'- CTTTCAGAAAGTTTCGTAAGCGG -3'

Sequencing Primer
(F):5'- CCTAATCGTGTCAAGAGGATGAGCC -3'
(R):5'- AGCGGTGTGTTTTAGAGTAAATATTC -3'
Posted On 2017-02-28