Mutagenetix > Incidental Mutation

Incidental Mutation 'R8050:Esrp1'

618977

Institutional Source

Beutler Lab

Gene Symbol

Esrp1

Ensembl Gene

ENSMUSG00000040728

Gene Name

epithelial splicing regulatory protein 1

Synonyms

2210008M09Rik, Rbm35a

MMRRC Submission

067487-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R8050 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11331933-11386783 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11338767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 679 (V679D)

Ref Sequence

ENSEMBL: ENSMUSP00000103947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043781] [ENSMUST00000108310] [ENSMUST00000108311] [ENSMUST00000108313] [ENSMUST00000147342]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043781

SMART Domains

Protein: ENSMUSP00000037921
Gene: ENSMUSG00000040728

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 damaging
Transcript: ENSMUST00000108310
AA Change: V675D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103946
Gene: ENSMUSG00000040728
AA Change: V675D

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 damaging
Transcript: ENSMUST00000108311
AA Change: V679D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103947
Gene: ENSMUSG00000040728
AA Change: V679D

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

SMART Domains

Protein: ENSMUSP00000103949
Gene: ENSMUSG00000040728

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: F460I

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121117
Gene: ENSMUSG00000040728
AA Change: F460I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,677 (GRCm39)	V194E	possibly damaging	Het
Adgrv1	T	C	13: 81,561,296 (GRCm39)	N5406S	probably damaging	Het
Arhgef38	T	A	3: 132,843,323 (GRCm39)	R416*	probably null	Het
Asb7	T	A	7: 66,328,932 (GRCm39)	Q36L	probably benign	Het
Bbof1	G	A	12: 84,457,991 (GRCm39)	M85I	probably benign	Het
Bin1	T	G	18: 32,539,198 (GRCm39)	F44V	probably damaging	Het
Bnc2	C	A	4: 84,210,573 (GRCm39)	V599L	probably benign	Het
Bnip3l	A	G	14: 67,226,651 (GRCm39)	S181P	probably damaging	Het
Btnl9	A	G	11: 49,066,442 (GRCm39)	L374P	probably benign	Het
Cd109	T	C	9: 78,571,633 (GRCm39)	I424T	probably benign	Het
Cdhr2	G	A	13: 54,882,035 (GRCm39)	V1162M	probably damaging	Het
Dgkb	G	A	12: 38,174,216 (GRCm39)	E181K	probably benign	Het
Dnase1	A	T	16: 3,855,861 (GRCm39)	D64V	probably damaging	Het
E130308A19Rik	T	C	4: 59,719,767 (GRCm39)	I433T	probably damaging	Het
Ecsit	C	T	9: 21,987,592 (GRCm39)	R149H	probably benign	Het
Eif1ad8	G	A	12: 87,563,911 (GRCm39)	R82Q	possibly damaging	Het
Enpep	A	T	3: 129,099,165 (GRCm39)	V437E	probably damaging	Het
Fa2h	T	A	8: 112,074,817 (GRCm39)		probably null	Het
Fabp1	G	A	6: 71,176,956 (GRCm39)	E16K	probably damaging	Het
Fstl5	T	A	3: 76,614,810 (GRCm39)	S624T	probably benign	Het
Gemin5	G	A	11: 58,019,686 (GRCm39)	R1128W	probably benign	Het
H2bc8	T	C	13: 23,755,841 (GRCm39)	S79P	probably damaging	Het
Hps3	T	C	3: 20,057,492 (GRCm39)	H896R	probably benign	Het
Hsf1	T	A	15: 76,382,481 (GRCm39)	I284K	probably benign	Het
Igkv3-2	T	A	6: 70,675,988 (GRCm39)	I99N	probably damaging	Het
Iqub	T	A	6: 24,503,784 (GRCm39)	I163F	possibly damaging	Het
Jak2	T	C	19: 29,275,732 (GRCm39)	I724T	probably damaging	Het
Kbtbd3	A	T	9: 4,330,408 (GRCm39)	T261S	probably benign	Het
Kctd20	G	T	17: 29,171,732 (GRCm39)		probably null	Het
Kif28	C	T	1: 179,537,014 (GRCm39)	V490M	probably benign	Het
Kif9	T	C	9: 110,348,208 (GRCm39)	L677P	probably damaging	Het
Klhl18	T	C	9: 110,257,829 (GRCm39)	Y537C	probably damaging	Het
Mmut	T	A	17: 41,254,784 (GRCm39)	I331K	probably benign	Het
Myo5a	T	A	9: 75,089,228 (GRCm39)	S1119R	probably damaging	Het
Napepld	C	A	5: 21,870,319 (GRCm39)	E366D	probably benign	Het
Nbea	A	G	3: 55,895,402 (GRCm39)	V1540A	probably damaging	Het
Neb	T	A	2: 52,111,738 (GRCm39)	I130L	probably benign	Het
Opcml	T	C	9: 28,724,640 (GRCm39)	V146A	probably damaging	Het
Or2g7	T	C	17: 38,378,370 (GRCm39)	S103P	probably damaging	Het
Or2r11	A	T	6: 42,437,764 (GRCm39)	L63H	probably damaging	Het
Or7e178	C	T	9: 20,225,941 (GRCm39)	D92N	probably damaging	Het
Pappa2	A	C	1: 158,675,970 (GRCm39)	C925W	probably damaging	Het
Parp12	T	A	6: 39,066,038 (GRCm39)	N562Y	probably damaging	Het
Patj	C	A	4: 98,427,201 (GRCm39)	H1198Q	probably benign	Het
Pcyox1	T	A	6: 86,366,128 (GRCm39)	K362M	possibly damaging	Het
Pcyt2	T	C	11: 120,501,765 (GRCm39)	Y350C	probably benign	Het
Pkd1	A	T	17: 24,784,617 (GRCm39)	T388S	probably benign	Het
Prl3d1	T	A	13: 27,284,011 (GRCm39)	Y193*	probably null	Het
Psme1	A	T	14: 55,817,056 (GRCm39)	D15V	possibly damaging	Het
Qrsl1	G	A	10: 43,750,631 (GRCm39)	R476C	probably damaging	Het
Ranbp2	A	G	10: 58,315,441 (GRCm39)	N2054D	probably damaging	Het
Serpinb1c	T	A	13: 33,066,052 (GRCm39)	K298*	probably null	Het
Slc22a27	A	T	19: 7,857,532 (GRCm39)	M355K	probably benign	Het
Spp1	T	A	5: 104,588,280 (GRCm39)	H227Q	probably benign	Het
Stam2	T	A	2: 52,609,785 (GRCm39)	N75I	probably damaging	Het
Tacc1	T	C	8: 25,659,230 (GRCm39)	T579A	probably benign	Het
Tbx3	A	G	5: 119,821,132 (GRCm39)	D734G	probably benign	Het
Tmem233	G	T	5: 116,221,141 (GRCm39)	S35*	probably null	Het
Trim43c	A	T	9: 88,722,390 (GRCm39)	E12V	probably damaging	Het
Trio	A	G	15: 27,891,540 (GRCm39)	S463P	unknown	Het
Uggt2	A	T	14: 119,263,834 (GRCm39)	D1065E	probably damaging	Het
Usp1	A	G	4: 98,817,150 (GRCm39)	N114S	probably benign	Het
Usp34	A	G	11: 23,396,787 (GRCm39)	E2377G		Het
Virma	T	A	4: 11,528,643 (GRCm39)	H1243Q	probably benign	Het
Vmn2r3	A	T	3: 64,178,714 (GRCm39)	V517D	probably damaging	Het
Zfp931	T	C	2: 177,709,889 (GRCm39)	K166E	probably damaging	Het
Zp3	T	A	5: 136,011,604 (GRCm39)	Y141N	probably 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
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
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'- ACACATTACACCTGTACTGCG -3'
(R):5'- CGTGTGGCTATTAACAGTGTC -3'

Sequencing Primer
(F):5'- ACCTGTACTGCGTTCTTGGTAAC -3'
(R):5'- AACAGTGTCATTGCTCAGGTTC -3'

Posted On

2020-01-23