Mutagenetix > Incidental Mutation

Incidental Mutation 'R1531:Esrp1'

166178

Institutional Source

Beutler Lab

Gene Symbol

Esrp1

Ensembl Gene

ENSMUSG00000040728

Gene Name

epithelial splicing regulatory protein 1

Synonyms

2210008M09Rik, Rbm35a

MMRRC Submission

039570-MU

Accession Numbers

Genbank: NM_194055; MGI: 1917326

Is this an essential gene?

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

Stock #

R1531 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11331933-11386783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11379375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 136 (F136L)

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

probably damaging
Transcript: ENSMUST00000043781
AA Change: F136L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037921
Gene: ENSMUSG00000040728
AA Change: F136L

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: F136L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103946
Gene: ENSMUSG00000040728
AA Change: F136L

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: F136L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103947
Gene: ENSMUSG00000040728
AA Change: F136L

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 damaging
Transcript: ENSMUST00000108313
AA Change: F136L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103949
Gene: ENSMUSG00000040728
AA Change: F136L

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: ENSMUST00000155519
AA Change: F122L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119598
Gene: ENSMUSG00000040728
AA Change: F122L

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	A	G	10: 43,525,320	V211A	probably benign	Het
Agtpbp1	T	A	13: 59,500,634		probably null	Het
Aldh3b2	T	G	19: 3,977,543	F28C	probably damaging	Het
Apaf1	T	C	10: 91,054,521	N540S	probably damaging	Het
Apob	T	C	12: 7,997,880	I953T	possibly damaging	Het
Arhgef1	A	G	7: 24,924,998	T816A	probably damaging	Het
Arid4a	T	A	12: 71,076,005	F1053L	probably benign	Het
Atxn1l	A	C	8: 109,732,059	F524V	probably damaging	Het
Cad	T	A	5: 31,076,219	M1874K	probably benign	Het
Ccdc40	G	A	11: 119,263,189	V1096I	probably benign	Het
Ccdc93	A	G	1: 121,480,822	D358G	probably benign	Het
Cd96	T	C	16: 46,117,806	T99A	probably benign	Het
Cdc42ep3	A	T	17: 79,335,044	M149K	probably benign	Het
Cog4	A	G	8: 110,879,721	E613G	probably benign	Het
Crebbp	A	T	16: 4,084,517	I2286N	probably benign	Het
Csf1	T	C	3: 107,748,338	E459G	possibly damaging	Het
Csrp2	A	T	10: 110,935,205	Y57F	probably benign	Het
Ctdspl	C	T	9: 119,040,582	P244L	probably damaging	Het
Cyp2c29	A	G	19: 39,324,968	R303G	probably damaging	Het
Cyp4a10	C	A	4: 115,518,435	Y38*	probably null	Het
Dmgdh	T	A	13: 93,744,411	I783N	probably damaging	Het
Efcc1	G	A	6: 87,731,166	E92K	probably benign	Het
Eif2ak4	T	A	2: 118,443,210	L872H	probably damaging	Het
Elp2	T	A	18: 24,631,404	S603T	probably benign	Het
Eml2	T	A	7: 19,196,254	L300H	probably damaging	Het
Esp3	A	G	17: 40,635,936	K50R	possibly damaging	Het
Exoc1	T	A	5: 76,559,164	D497E	probably damaging	Het
Fat3	A	G	9: 15,997,465	S2414P	probably damaging	Het
Foxj3	C	T	4: 119,620,201	P369S	unknown	Het
Gkn2	G	T	6: 87,375,939		probably null	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,852,878		noncoding transcript	Het
Gm21905	A	T	5: 67,946,381		probably benign	Het
Grhl1	T	A	12: 24,582,963		probably null	Het
Grk6	A	G	13: 55,452,154	Y221C	probably damaging	Het
Hcrtr1	T	A	4: 130,130,927	K389*	probably null	Het
Hk1	G	A	10: 62,284,784	R545C	probably damaging	Het
Hsp90b1	A	T	10: 86,696,795	I339N	probably benign	Het
Ikzf3	T	C	11: 98,490,446	R103G	probably damaging	Het
Itgad	A	C	7: 128,178,370	I141L	probably benign	Het
Jmjd6	T	A	11: 116,842,440	Y137F	probably benign	Het
Kcna1	A	G	6: 126,642,067	V430A	probably benign	Het
Kel	A	G	6: 41,688,626	V520A	probably damaging	Het
Klhl41	G	A	2: 69,670,740	V182I	probably benign	Het
Ldhb	C	A	6: 142,501,395	M64I	probably benign	Het
Lrrc23	A	G	6: 124,776,114	S190P	possibly damaging	Het
Mb21d1	A	G	9: 78,442,481	Y200H	probably damaging	Het
Mboat2	T	C	12: 24,959,030	V445A	probably benign	Het
Mlycd	G	A	8: 119,401,519	W188*	probably null	Het
Mpp3	C	T	11: 102,008,649	E349K	probably benign	Het
Myh4	A	G	11: 67,250,540	M780V	probably benign	Het
Myh6	G	A	14: 54,956,506	R809C	probably damaging	Het
Mylip	G	A	13: 45,406,570	V161M	possibly damaging	Het
Nrp1	G	A	8: 128,425,969	V220I	probably null	Het
Nup210	A	T	6: 91,034,841	N455K	probably benign	Het
Olfr116	A	T	17: 37,624,352	Y94*	probably null	Het
Olfr583	C	A	7: 103,051,588	Q97K	probably benign	Het
Pbld2	G	T	10: 63,053,953		probably null	Het
Pclo	C	G	5: 14,521,903	P434R	probably damaging	Het
Pdlim3	A	G	8: 45,896,763	K37E	probably damaging	Het
Prkdc	T	A	16: 15,772,106	I2611N	probably benign	Het
Prr12	T	C	7: 45,028,530	D2019G	unknown	Het
Rab27a	A	G	9: 73,095,403	T205A	probably benign	Het
Rcan3	A	G	4: 135,425,284	L42P	probably damaging	Het
Rchy1	T	C	5: 91,955,615		probably null	Het
Sema6a	T	C	18: 47,248,999	H827R	probably damaging	Het
Sertad4	A	G	1: 192,850,950		probably null	Het
Smarcd1	T	A	15: 99,707,383	C282S	probably damaging	Het
Speg	A	G	1: 75,401,222	T769A	possibly damaging	Het
Syne1	T	A	10: 5,347,875	K1141*	probably null	Het
Synpo2	T	C	3: 123,117,666	E110G	probably benign	Het
Tg	T	A	15: 66,850,502	D333E	probably benign	Het
Tmem132c	A	G	5: 127,359,891	Y148C	probably damaging	Het
Tmem215	T	A	4: 40,473,965	V14E	probably damaging	Het
Tmem229b	A	G	12: 78,964,911	L82P	probably damaging	Het
Togaram1	A	G	12: 64,966,265	T97A	probably benign	Het
Trappc9	G	A	15: 72,693,548	R965*	probably null	Het
Trio	T	C	15: 27,832,985	I104V	probably benign	Het
Trp73	A	G	4: 154,063,895	F354S	probably benign	Het
Ttyh2	T	C	11: 114,686,452	L63P	probably damaging	Het
Ulk4	G	C	9: 121,044,775	P1197A	probably damaging	Het
Vmn1r176	T	C	7: 23,835,111	M206V	possibly damaging	Het
Vps8	T	A	16: 21,466,476	Y402*	probably null	Het
Zbtb41	A	G	1: 139,423,193	I15V	probably benign	Het
Zc3hav1	T	C	6: 38,307,235	I982V	possibly damaging	Het
Zmynd19	T	A	2: 24,958,111	N106K	probably benign	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
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
R9512:Esrp1	UTSW	4	11365449	missense	probably benign	0.44
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'- CACACTTGGCAGGAACACTCTGAC -3'
(R):5'- GCTTAATCGGAAGGCACAGTGACC -3'

Sequencing Primer
(F):5'- agggggatacctgtaagtctg -3'
(R):5'- GGCACAGTGACCATGTTACTC -3'

Posted On

2014-04-13