Mutagenetix > Incidental Mutation

Incidental Mutation 'R1165:Celf5'

100952

Institutional Source

Beutler Lab

Gene Symbol

Celf5

Ensembl Gene

ENSMUSG00000034818

Gene Name

CUGBP, Elav-like family member 5

Synonyms

4930565A21Rik, Brunol5

MMRRC Submission

039238-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R1165 (G1)

Quality Score

138

Status

Validated

Chromosome

Chromosomal Location

81295061-81318543 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81307172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 83 (V83E)

Ref Sequence

ENSEMBL: ENSMUSP00000113592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118763] [ENSMUST00000119060] [ENSMUST00000120508] [ENSMUST00000120856] [ENSMUST00000147524]

AlphaFold

A0A5F8MPH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000118763
AA Change: V83E

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

SMART Domains

Protein: ENSMUSP00000113675
Gene: ENSMUSG00000034818
AA Change: V83E

Domain	Start	End	E-Value	Type
RRM	8	84	7.41e-18	SMART
RRM	97	172	3.23e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119060
AA Change: V7E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113546
Gene: ENSMUSG00000034818
AA Change: V7E

Domain	Start	End	E-Value	Type
RRM	21	96	3.23e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120508
AA Change: V83E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113592
Gene: ENSMUSG00000034818
AA Change: V83E

Domain	Start	End	E-Value	Type
RRM	8	84	7.41e-18	SMART
RRM	96	171	3.23e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120856
AA Change: V7E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113784
Gene: ENSMUSG00000034818
AA Change: V7E

Domain	Start	End	E-Value	Type
RRM	20	95	3.23e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145375

Predicted Effect

probably damaging
Transcript: ENSMUST00000147524
AA Change: V13E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117430
Gene: ENSMUSG00000034818
AA Change: V13E

Domain	Start	End	E-Value	Type
RRM	27	92	6.87e-13	SMART

Meta Mutation Damage Score

0.4897

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the the CELF/BRUNOL protein family, which contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing and translation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	G	13: 77,482,406 (GRCm39)	C1209G	probably benign	Het
Abcg2	C	A	6: 58,655,285 (GRCm39)	L407I	probably benign	Het
Adtrp	A	G	13: 41,967,779 (GRCm39)	V56A	probably damaging	Het
Angptl6	T	G	9: 20,789,604 (GRCm39)	N96T	probably benign	Het
Ank3	C	A	10: 69,734,132 (GRCm39)	N780K	possibly damaging	Het
AU040320	A	T	4: 126,717,433 (GRCm39)		probably benign	Het
Best2	C	T	8: 85,737,789 (GRCm39)	R202H	probably benign	Het
Bod1l	A	T	5: 41,978,396 (GRCm39)	S973T	probably benign	Het
Brca2	T	A	5: 150,466,212 (GRCm39)	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563 (GRCm39)	P539L	probably benign	Het
Ccr1	A	T	9: 123,763,531 (GRCm39)	V333E	possibly damaging	Het
Col15a1	T	C	4: 47,257,275 (GRCm39)		probably benign	Het
Coro1b	C	A	19: 4,199,901 (GRCm39)	H81N	probably damaging	Het
Cwc22	A	T	2: 77,734,242 (GRCm39)	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,678,242 (GRCm39)	G45W	probably damaging	Het
Dysf	T	A	6: 84,044,051 (GRCm39)	N297K	probably damaging	Het
Edem1	T	A	6: 108,828,214 (GRCm39)	L513Q	probably damaging	Het
Erich1	G	A	8: 14,140,530 (GRCm39)		probably benign	Het
Fam91a1	T	C	15: 58,302,518 (GRCm39)	V286A	possibly damaging	Het
Fdxr	C	A	11: 115,162,608 (GRCm39)		probably benign	Het
Gas7	T	C	11: 67,561,512 (GRCm39)		probably benign	Het
Glb1l2	T	C	9: 26,705,397 (GRCm39)	D151G	probably damaging	Het
Gm14410	A	C	2: 176,885,282 (GRCm39)	Y327*	probably null	Het
Grep1	A	C	17: 23,929,489 (GRCm39)		probably benign	Het
H6pd	A	G	4: 150,080,413 (GRCm39)	I136T	possibly damaging	Het
Hectd1	A	T	12: 51,810,947 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,668,840 (GRCm39)	T519A	possibly damaging	Het
Hpd	A	G	5: 123,314,153 (GRCm39)		probably null	Het
Insyn2b	A	G	11: 34,352,740 (GRCm39)	T261A	probably benign	Het
Or6c76	A	G	10: 129,612,302 (GRCm39)	D188G	probably damaging	Het
Or7c19	T	A	8: 85,957,400 (GRCm39)	I92N	probably damaging	Het
Pcdha11	A	G	18: 37,140,757 (GRCm39)		probably benign	Het
Pdgfrb	T	C	18: 61,197,074 (GRCm39)	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,115,420 (GRCm39)	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,694,017 (GRCm39)	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Rtel1	A	G	2: 180,976,732 (GRCm39)	K243E	probably benign	Het
Slc19a2	G	A	1: 164,091,014 (GRCm39)	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,887,059 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,790 (GRCm39)	F266L	probably damaging	Het
Snx25	T	G	8: 46,488,752 (GRCm39)	I868L	probably damaging	Het
Spag16	A	G	1: 70,036,036 (GRCm39)	I355V	probably benign	Het
Tmem198	A	T	1: 75,456,576 (GRCm39)		probably benign	Het
Traf3ip3	A	C	1: 192,866,786 (GRCm39)	S349A	probably damaging	Het
Trim17	A	G	11: 58,862,041 (GRCm39)	N358D	possibly damaging	Het
Trmu	A	G	15: 85,776,875 (GRCm39)	T196A	probably damaging	Het
Tsen2	A	G	6: 115,538,396 (GRCm39)	Y291C	probably damaging	Het
Vps13d	A	G	4: 144,853,041 (GRCm39)	F2358L	probably benign	Het
Wnt2	T	C	6: 17,989,946 (GRCm39)	H317R	probably benign	Het
Zfp120	A	T	2: 149,961,849 (GRCm39)	V33E	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het

Other mutations in Celf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Celf5	APN	10	81,302,914 (GRCm39)	unclassified	probably benign
IGL02193:Celf5	APN	10	81,306,507 (GRCm39)	missense	probably damaging	1.00
IGL02199:Celf5	APN	10	81,318,318 (GRCm39)	missense	possibly damaging	0.71
R0012:Celf5	UTSW	10	81,305,346 (GRCm39)	missense	probably damaging	0.99
R0207:Celf5	UTSW	10	81,306,532 (GRCm39)	missense	probably null	1.00
R0242:Celf5	UTSW	10	81,300,243 (GRCm39)	missense	probably benign	0.00
R0242:Celf5	UTSW	10	81,300,243 (GRCm39)	missense	probably benign	0.00
R0607:Celf5	UTSW	10	81,301,839 (GRCm39)	missense	probably damaging	1.00
R1775:Celf5	UTSW	10	81,303,138 (GRCm39)	unclassified	probably benign
R1796:Celf5	UTSW	10	81,303,053 (GRCm39)	missense	possibly damaging	0.90
R2291:Celf5	UTSW	10	81,302,881 (GRCm39)	missense	probably damaging	0.98
R4812:Celf5	UTSW	10	81,306,573 (GRCm39)	missense	probably damaging	1.00
R5367:Celf5	UTSW	10	81,303,098 (GRCm39)	missense	probably damaging	1.00
R6323:Celf5	UTSW	10	81,305,337 (GRCm39)	missense	probably damaging	1.00
R7033:Celf5	UTSW	10	81,298,548 (GRCm39)	missense	probably damaging	0.99
R7226:Celf5	UTSW	10	81,303,863 (GRCm39)	missense	probably damaging	0.98
R7454:Celf5	UTSW	10	81,318,357 (GRCm39)	missense	probably damaging	1.00
R9729:Celf5	UTSW	10	81,303,925 (GRCm39)	missense	probably damaging	1.00
Z1088:Celf5	UTSW	10	81,302,783 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15