Mutagenetix > Incidental Mutation

Incidental Mutation 'R3546:Celf3'

268195

Institutional Source

Beutler Lab

Gene Symbol

Celf3

Ensembl Gene

ENSMUSG00000028137

Gene Name

CUGBP, Elav-like family member 3

Synonyms

BRUNOL1, CAGH4, 4930415M08Rik, Tnrc4, ERDA4

MMRRC Submission

040665-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R3546 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94478295-94492198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 94488538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 304 (C304G)

Ref Sequence

ENSEMBL: ENSMUSP00000142412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029784] [ENSMUST00000197558] [ENSMUST00000197677] [ENSMUST00000198316] [ENSMUST00000198384] [ENSMUST00000199775] [ENSMUST00000200342] [ENSMUST00000199884]

AlphaFold

Q8CIN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029784
AA Change: C380G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029784
Gene: ENSMUSG00000028137
AA Change: C380G

Domain	Start	End	E-Value	Type
RRM	8	84	4.32e-19	SMART
RRM	95	170	2.02e-19	SMART
low complexity region	208	220	N/A	INTRINSIC
low complexity region	248	275	N/A	INTRINSIC
low complexity region	339	373	N/A	INTRINSIC
RRM	381	454	8.83e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197033

Predicted Effect

probably damaging
Transcript: ENSMUST00000197558
AA Change: C285G

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

SMART Domains

Protein: ENSMUSP00000143733
Gene: ENSMUSG00000028137
AA Change: C285G

Domain	Start	End	E-Value	Type
RRM	19	94	8.9e-22	SMART
low complexity region	132	144	N/A	INTRINSIC
low complexity region	172	199	N/A	INTRINSIC
RRM	286	359	3.7e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197677

SMART Domains

Protein: ENSMUSP00000143089
Gene: ENSMUSG00000028137

Domain	Start	End	E-Value	Type
RRM	20	95	8.7e-22	SMART
low complexity region	133	145	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198067

Predicted Effect

probably damaging
Transcript: ENSMUST00000198316
AA Change: C304G

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

SMART Domains

Protein: ENSMUSP00000142412
Gene: ENSMUSG00000028137
AA Change: C304G

Domain	Start	End	E-Value	Type
RRM	19	94	8.7e-22	SMART
low complexity region	132	144	N/A	INTRINSIC
low complexity region	172	199	N/A	INTRINSIC
low complexity region	263	297	N/A	INTRINSIC
RRM	305	378	3.6e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198384

SMART Domains

Protein: ENSMUSP00000142542
Gene: ENSMUSG00000028137

Domain	Start	End	E-Value	Type
RRM	20	95	8.7e-22	SMART
low complexity region	133	145	N/A	INTRINSIC
low complexity region	173	200	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199159

Predicted Effect

probably damaging
Transcript: ENSMUST00000199775
AA Change: C331G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143532
Gene: ENSMUSG00000028137
AA Change: C331G

Domain	Start	End	E-Value	Type
RRM	8	84	1.9e-21	SMART
RRM	96	171	8.9e-22	SMART
low complexity region	209	221	N/A	INTRINSIC
low complexity region	290	324	N/A	INTRINSIC
RRM	332	405	3.7e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000200342
AA Change: C409G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137
AA Change: C409G

Domain	Start	End	E-Value	Type
RRM	8	84	4.32e-19	SMART
RRM	96	171	2.02e-19	SMART
low complexity region	209	221	N/A	INTRINSIC
low complexity region	249	276	N/A	INTRINSIC
low complexity region	368	402	N/A	INTRINSIC
RRM	410	483	8.83e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199884

Meta Mutation Damage Score

0.3443

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (31/31)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the CELF/BRUNOL protein family 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. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Male mice homozygous for a null mutation display reduced sperm counts and motility but are fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	A	G	3: 88,693,136		probably benign	Het
AA986860	A	G	1: 130,741,189		probably benign	Het
Bves	A	G	10: 45,354,811	R293G	probably damaging	Het
Ceacam1	T	C	7: 25,471,914	N375S	probably benign	Het
Clcc1	T	A	3: 108,668,113	C169S	probably benign	Het
Cyth1	A	G	11: 118,192,436	V46A	probably damaging	Het
Ddx23	G	A	15: 98,650,732	T365M	probably damaging	Het
Etaa1	A	G	11: 17,953,823		probably benign	Het
Fap	A	C	2: 62,519,011	L478R	probably damaging	Het
Golga7b	T	C	19: 42,267,071	M129T	possibly damaging	Het
Hdac7	G	T	15: 97,808,009	Q361K	probably damaging	Het
Itk	A	G	11: 46,355,848	L181P	probably benign	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Lrp1b	A	T	2: 40,600,288	L287H	probably damaging	Het
Mei1	A	G	15: 82,098,042	Y677C	probably damaging	Het
Mslnl	T	C	17: 25,744,969	V424A	probably damaging	Het
Nbeal1	T	C	1: 60,278,780	F1959L	probably damaging	Het
Nlrp6	T	G	7: 140,926,769	V849G	probably benign	Het
Olfr524	A	G	7: 140,202,101	I223T	probably damaging	Het
Pdilt	C	A	7: 119,500,488	E186*	probably null	Het
Ppp1r27	T	A	11: 120,550,685	I90F	probably damaging	Het
Reln	A	G	5: 22,227,600	V134A	possibly damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Slc16a7	T	A	10: 125,294,700	K39*	probably null	Het
Sult6b1	G	A	17: 78,906,907	T29I	probably benign	Het
Tbc1d1	G	A	5: 64,286,007	R523Q	probably damaging	Het
Ttn	T	A	2: 76,745,106	I25148F	probably damaging	Het
Ush1g	T	A	11: 115,318,897	H157L	probably damaging	Het
Utp20	T	C	10: 88,782,689	K1150E	probably damaging	Het
Vmn1r7	A	G	6: 57,024,849	I142T	possibly damaging	Het

Other mutations in Celf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Celf3	APN	3	94488228	missense	possibly damaging	0.70
IGL02103:Celf3	APN	3	94486801	missense	probably damaging	1.00
IGL03007:Celf3	APN	3	94487137	missense	probably benign	0.00
R0180:Celf3	UTSW	3	94485340	missense	probably damaging	1.00
R0670:Celf3	UTSW	3	94488230	small deletion	probably benign
R1965:Celf3	UTSW	3	94485327	missense	probably damaging	1.00
R2232:Celf3	UTSW	3	94480259	splice site	probably null
R2566:Celf3	UTSW	3	94488230	small deletion	probably benign
R3547:Celf3	UTSW	3	94488538	missense	probably damaging	1.00
R3548:Celf3	UTSW	3	94488538	missense	probably damaging	1.00
R4015:Celf3	UTSW	3	94487198	missense	probably benign	0.02
R4471:Celf3	UTSW	3	94488278	splice site	probably null
R4698:Celf3	UTSW	3	94484867	critical splice donor site	probably null
R4816:Celf3	UTSW	3	94479222	missense	probably damaging	1.00
R4939:Celf3	UTSW	3	94488230	small deletion	probably benign
R5851:Celf3	UTSW	3	94479126	missense	probably damaging	1.00
R6277:Celf3	UTSW	3	94485365	missense	probably damaging	1.00
R6400:Celf3	UTSW	3	94480286	missense	probably damaging	1.00
R6986:Celf3	UTSW	3	94487717	missense	possibly damaging	0.83
R7357:Celf3	UTSW	3	94480330	missense	probably damaging	0.99
R7556:Celf3	UTSW	3	94480283	missense	probably damaging	1.00
R8141:Celf3	UTSW	3	94488543	missense	probably damaging	1.00
R8290:Celf3	UTSW	3	94479182	missense	probably benign	0.44
R8978:Celf3	UTSW	3	94485360	missense	probably benign	0.22
R9255:Celf3	UTSW	3	94485287	missense	probably benign	0.25
R9636:Celf3	UTSW	3	94487273	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- GGATAAGAACGCCCATGTGTG -3'
(R):5'- TGTGACGAACTCAGTCCTAAG -3'

Sequencing Primer
(F):5'- CGATGGCTCTTTCCCAGG -3'
(R):5'- TCCTAAGAGTTCAAACAAAAATGTCC -3'

Posted On

2015-02-19