Mutagenetix > Incidental Mutation

Incidental Mutation 'R9512:Esrp1'

718223

Institutional Source

Beutler Lab

Gene Symbol

Esrp1

Ensembl Gene

ENSMUSG00000040728

Gene Name

epithelial splicing regulatory protein 1

Synonyms

2210008M09Rik, Rbm35a

Accession Numbers

Genbank: NM_194055; MGI: 1917326

Is this an essential gene?

Possibly non essential (E-score: 0.428) question?

Stock #

R9512 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11331933-11386783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11365449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 213 (V213A)

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

possibly damaging
Transcript: ENSMUST00000043781
AA Change: V227A

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037921
Gene: ENSMUSG00000040728
AA Change: V227A

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: V227A

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103946
Gene: ENSMUSG00000040728
AA Change: V227A

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: V227A

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103947
Gene: ENSMUSG00000040728
AA Change: V227A

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: V227A

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103949
Gene: ENSMUSG00000040728
AA Change: V227A

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: ENSMUST00000147342
AA Change: V62A

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121117
Gene: ENSMUSG00000040728
AA Change: V62A

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 benign
Transcript: ENSMUST00000155519
AA Change: V213A

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119598
Gene: ENSMUSG00000040728
AA Change: V213A

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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
Abca16	C	T	7: 120,423,740	A33V	probably benign	Het
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Alkbh8	G	T	9: 3,367,959	R325M	probably damaging	Het
Ap1g1	T	C	8: 109,803,055	S36P	probably damaging	Het
Arid1b	A	G	17: 5,341,589	D1745G	probably benign	Het
Bnipl	A	G	3: 95,243,058	V292A	probably benign	Het
Brca2	C	T	5: 150,531,081	A103V	probably benign	Het
Capn3	G	A	2: 120,496,054	E576K	probably damaging	Het
Eif2ak4	G	A	2: 118,462,715	G1372S	probably damaging	Het
Ephb6	G	A	6: 41,616,096	E423K	possibly damaging	Het
Fndc3a	T	C	14: 72,589,984	E87G	probably damaging	Het
Foxn1	G	T	11: 78,371,209	S111R		Het
Fyb2	G	A	4: 104,995,903	R564Q	probably benign	Het
Gm4969	T	A	7: 19,104,935	T156S	unknown	Het
Henmt1	A	G	3: 108,960,129	I327V	probably benign	Het
Hsdl2	A	T	4: 59,594,464	R117*	probably null	Het
Kif18a	A	G	2: 109,341,172	T865A	probably benign	Het
Lrrcc1	T	C	3: 14,548,241	L463P	possibly damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mroh4	C	A	15: 74,613,246	R539L	probably benign	Het
Nln	A	T	13: 104,061,766	H179Q	possibly damaging	Het
Nrg2	A	G	18: 36,045,957	F309L	probably benign	Het
Ntng2	T	C	2: 29,227,957	T160A	possibly damaging	Het
Olfr1267-ps1	A	G	2: 90,086,377	L28P	possibly damaging	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr1410	T	C	1: 92,608,268	C144R	probably benign	Het
Olfr338	T	C	2: 36,377,313	L179P	possibly damaging	Het
Orc6	T	A	8: 85,302,893	I98N		Het
Pcdha8	A	C	18: 36,993,571	I369L	possibly damaging	Het
Plk2	C	T	13: 110,400,139	T655M	probably damaging	Het
Pou1f1	A	G	16: 65,523,616	T66A	probably benign	Het
Ppp1r9a	A	T	6: 5,113,681	E728D	probably benign	Het
Ppp1r9a	T	C	6: 5,115,364	V829A	probably damaging	Het
Psd	T	C	19: 46,317,715	K46R	possibly damaging	Het
Slc25a51	T	C	4: 45,399,360	I277V	probably benign	Het
Slc9a2	T	G	1: 40,682,098	D75E	probably damaging	Het
Slitrk5	A	G	14: 111,679,820	Y292C	probably damaging	Het
Snap91	T	G	9: 86,783,339	T667P	unknown	Het
Spata16	G	C	3: 26,667,944	E205Q	possibly damaging	Het
Stard6	G	A	18: 70,500,530	V203I	probably benign	Het
Stra8	G	A	6: 34,933,053	A137T	probably benign	Het
Toporsl	A	G	4: 52,610,382	T92A	probably benign	Het
Ush2a	A	G	1: 188,910,963	N4174S	probably damaging	Het
Vmn1r232	A	C	17: 20,914,154	S61R	probably damaging	Het
Zfp263	T	C	16: 3,746,442	S199P	probably damaging	Het
Zfp616	G	A	11: 74,085,110	C735Y	probably damaging	Het

Other mutations in Esrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:Esrp1	APN	4	11384374	missense	possibly damaging	0.47
IGL02251:Esrp1	APN	4	11361202	missense	probably damaging	1.00
IGL02669:Esrp1	APN	4	11386324	missense	possibly damaging	0.61
Barley	UTSW	4	11365205	missense	probably damaging	1.00
korn	UTSW	4	11357519	missense	probably damaging	1.00
triaka	UTSW	4	11379300	missense	probably benign	0.01
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
R7392:Esrp1	UTSW	4	11338809	missense	probably benign	0.00
R7607:Esrp1	UTSW	4	11384449	missense	probably damaging	0.99
R7985:Esrp1	UTSW	4	11367153	missense	probably benign	0.17
R8050:Esrp1	UTSW	4	11338767	missense	probably damaging	1.00
Z1176:Esrp1	UTSW	4	11384396	missense	probably damaging	1.00
Z1176:Esrp1	UTSW	4	11385765	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- GAGCATTCAGGCAAAGTGCTG -3'
(R):5'- CCATCATTCTAGAGTGACGCAG -3'

Sequencing Primer
(F):5'- TGCGCCACCCCTTTGAAAG -3'
(R):5'- GATTCTTTGAGCTGTCCGCAGAC -3'

Posted On

2022-07-18