Mutagenetix > Incidental Mutation

Incidental Mutation 'R4471:Celf3'

329410

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

041728-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R4471 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

94478295-94492198 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 94488278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143344 (fasta)

Gene Model

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

AlphaFold

Q8CIN6

Predicted Effect

probably null
Transcript: ENSMUST00000029784

SMART Domains

Protein: ENSMUSP00000029784
Gene: ENSMUSG00000028137

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 benign
Transcript: ENSMUST00000197558

SMART Domains

Protein: ENSMUSP00000143733
Gene: ENSMUSG00000028137

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 null
Transcript: ENSMUST00000198316

SMART Domains

Protein: ENSMUSP00000142412
Gene: ENSMUSG00000028137

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 null
Transcript: ENSMUST00000199775

SMART Domains

Protein: ENSMUSP00000143532
Gene: ENSMUSG00000028137

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 null
Transcript: ENSMUST00000199775

SMART Domains

Protein: ENSMUSP00000143532
Gene: ENSMUSG00000028137

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 null
Transcript: ENSMUST00000200342

SMART Domains

Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (69/70)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	G	14: 8,536,571	L212P	probably damaging	Het
AF067061	G	T	13: 120,264,043	R81L	probably benign	Het
Alpk1	A	G	3: 127,679,526	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,503,509	D398G	probably damaging	Het
Ankrd13b	T	A	11: 77,476,214	K49M	probably damaging	Het
Asah1	A	G	8: 41,343,724		probably null	Het
Cdc34b	A	G	11: 94,742,238	E88G	probably benign	Het
Cdh2	T	C	18: 16,774,476		probably null	Het
Ceacam1	T	A	7: 25,474,600	N210I	possibly damaging	Het
Cmya5	A	T	13: 93,092,325	M2085K	probably benign	Het
Cpne6	G	A	14: 55,516,632	V469M	probably damaging	Het
Cyp2j12	A	G	4: 96,133,069	V100A	probably benign	Het
Diexf	C	T	1: 193,130,137	R5Q	possibly damaging	Het
Dnajb4	A	T	3: 152,185,162	H333Q	probably benign	Het
Eif3f	T	C	7: 108,940,946	V316A	possibly damaging	Het
Eml1	T	C	12: 108,506,635		probably benign	Het
Ern1	C	A	11: 106,420,042	V302L	possibly damaging	Het
Fam110b	A	T	4: 5,799,092	H170L	probably benign	Het
Fn3krp	T	G	11: 121,426,673	D146E	probably benign	Het
Git1	A	G	11: 77,499,824	T129A	probably benign	Het
Glrp1	T	A	1: 88,503,474	Q58L	unknown	Het
Gpatch2	A	G	1: 187,233,140	E281G	probably damaging	Het
Hipk2	T	A	6: 38,736,922		probably benign	Het
Hydin	A	G	8: 110,587,132	N4214S	probably damaging	Het
Icam5	T	A	9: 21,035,506	C443*	probably null	Het
Impdh1	G	A	6: 29,204,632	Q307*	probably null	Het
Ivns1abp	C	T	1: 151,361,239	T447M	probably benign	Het
Lman1	A	T	18: 65,991,726		probably benign	Het
Mdn1	A	G	4: 32,668,860	E306G	probably benign	Het
Msc	G	C	1: 14,755,678	P24R	probably damaging	Het
Mtif2	T	C	11: 29,540,053		probably benign	Het
Mvp	C	T	7: 127,001,958	M1I	probably null	Het
Myh7	A	T	14: 54,991,854	Y162*	probably null	Het
Nemf	G	A	12: 69,314,442	H956Y	probably benign	Het
Nktr	T	C	9: 121,748,896		probably benign	Het
Nrxn3	T	C	12: 90,204,741	S276P	probably damaging	Het
Olfr26	T	C	9: 38,855,631	S190P	probably damaging	Het
Patj	A	G	4: 98,535,579	K621E	probably damaging	Het
Prss2	A	G	6: 41,522,846	I24V	probably damaging	Het
R3hcc1l	T	C	19: 42,582,820		probably benign	Het
Rest	T	C	5: 77,281,180	V482A	probably benign	Het
Rexo1	A	T	10: 80,542,658	S476T	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Slc16a3	T	C	11: 120,955,948		probably benign	Het
Slc5a4b	G	A	10: 76,058,891	Q594*	probably null	Het
Slk	T	G	19: 47,615,423	V202G	probably damaging	Het
Smarca2	T	A	19: 26,619,877	V53D	possibly damaging	Het
Snrnp200	T	A	2: 127,238,753	V2036E	probably benign	Het
Sox5	A	G	6: 143,844,765	M523T	possibly damaging	Het
Syt17	A	G	7: 118,436,817		probably null	Het
Taf2	T	C	15: 55,058,880	D337G	possibly damaging	Het
Tecrl	A	G	5: 83,313,287	Y108H	probably benign	Het
Tln1	A	T	4: 43,551,018	F409L	probably benign	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Ttc23	G	A	7: 67,670,156	R187Q	probably benign	Het
Ttl	T	C	2: 129,082,057	V230A	probably benign	Het
Ube2u	G	A	4: 100,481,646	W36*	probably null	Het
Ube4a	A	T	9: 44,946,532		probably benign	Het
Ulk1	C	T	5: 110,789,357	R691Q	probably benign	Het
Unc45a	A	G	7: 80,332,980	I399T	possibly damaging	Het
Wdr59	A	C	8: 111,466,787		probably null	Het
Zfp24	A	G	18: 24,018,115		probably benign	Het
Zfp777	A	T	6: 48,042,107	W342R	probably damaging	Het
Zfp979	A	T	4: 147,613,456	C265*	probably null	Het
Zzef1	T	A	11: 72,913,331	L2633Q	probably 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
R3546:Celf3	UTSW	3	94488538	missense	probably damaging	1.00
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
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'- TCCTCTAGGCCTGTGGATTC -3'
(R):5'- AGATGTTGCAGCCATCAGGG -3'

Sequencing Primer
(F):5'- TTGTGCCGAGTCAGGGGAAC -3'
(R):5'- CTGGGAAGTGCAGACTGC -3'

Posted On

2015-07-21