Mutagenetix > Incidental Mutation

Incidental Mutation 'R4698:Celf3'

355819

Institutional Source

Beutler Lab

Gene Symbol

Celf3

Ensembl Gene

ENSMUSG00000028137

Gene Name

CUGBP, Elav-like family member 3

Synonyms

BRUNOL1, CAGH4, 4930415M08Rik, Tnrc4, ERDA4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R4698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94478295-94492198 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 94484867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143344 (fasta)

Gene Model

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

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: ENSMUST00000183915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197033

Predicted Effect

probably null
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 null
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

probably null
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 null
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

probably null
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

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: ENSMUST00000199884

Predicted Effect

probably null
Transcript: ENSMUST00000199884

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

noncoding transcript
Transcript: ENSMUST00000199159

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,038,240	V11A	possibly damaging	Het
6030452D12Rik	T	C	8: 106,504,347	I55T	unknown	Het
Aadacl2	A	G	3: 60,025,039	D325G	probably benign	Het
Adh1	A	G	3: 138,282,513	S113G	probably benign	Het
Agxt2	T	C	15: 10,392,044		probably null	Het
Aicda	C	T	6: 122,553,888		probably benign	Het
Aifm2	T	C	10: 61,727,756	M135T	probably benign	Het
Asah2	T	C	19: 32,054,471		probably null	Het
Btbd17	T	C	11: 114,791,717	R390G	probably damaging	Het
Cadps	T	C	14: 12,705,654	E247G	possibly damaging	Het
Cds2	T	C	2: 132,304,953	I383T	probably damaging	Het
Crhr2	T	C	6: 55,102,867	S162G	possibly damaging	Het
Dapl1	A	T	2: 59,504,774	K91*	probably null	Het
Ddx60	A	C	8: 62,012,424	M1372L	probably benign	Het
Dnah2	A	T	11: 69,498,532	F845I	probably damaging	Het
Dscam	T	C	16: 96,610,324	D1784G	probably damaging	Het
Ech1	T	C	7: 28,832,053	V310A	probably benign	Het
Eef1g	A	G	19: 8,977,966	D393G	possibly damaging	Het
Eif3k	T	C	7: 28,972,544	I172V	possibly damaging	Het
Foxd4	A	G	19: 24,900,261	F192L	probably damaging	Het
Gpr153	T	A	4: 152,281,783	S268R	probably damaging	Het
Hist2h3b	C	A	3: 96,269,078	R129S	probably damaging	Het
Ivl	T	C	3: 92,571,391	K456E	unknown	Het
Kif20b	A	T	19: 34,951,544	D1190V	probably damaging	Het
Kif21a	T	A	15: 90,956,305	I1223L	possibly damaging	Het
Lmf1	T	C	17: 25,579,350	V55A	probably damaging	Het
Loxhd1	A	G	18: 77,372,291	E659G	possibly damaging	Het
Lrrc37a	T	C	11: 103,504,104	E165G	possibly damaging	Het
Mios	T	C	6: 8,228,113	Y677H	possibly damaging	Het
Mnx1	T	A	5: 29,474,059	K342M	unknown	Het
Mtpap	A	T	18: 4,375,724	T35S	possibly damaging	Het
Ndc1	C	G	4: 107,411,137	D623E	probably benign	Het
Nedd4l	A	G	18: 65,203,880	Y666C	probably damaging	Het
Olfr1022	A	G	2: 85,869,252	Y220C	possibly damaging	Het
Olfr1445	T	G	19: 12,884,621	F247V	probably benign	Het
Olfr204	T	C	16: 59,315,357	T17A	probably damaging	Het
Olfr605	T	A	7: 103,442,635	I163F	possibly damaging	Het
Papss1	G	T	3: 131,607,331	V369F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,769	Y601N	probably damaging	Het
Pde7a	C	T	3: 19,310,931	R24Q	probably damaging	Het
Phf21a	A	G	2: 92,356,952	D445G	probably damaging	Het
Plekho1	T	A	3: 95,995,652	N15I	possibly damaging	Het
Pprc1	T	C	19: 46,069,195		probably benign	Het
Ralgapa1	A	T	12: 55,677,276		probably null	Het
Rrp12	T	C	19: 41,873,042	E942G	probably benign	Het
Skor1	T	C	9: 63,144,548	D685G	probably benign	Het
Smim23	A	T	11: 32,824,510	I3N	possibly damaging	Het
Spata7	A	T	12: 98,664,277	I333F	probably damaging	Het
Sppl2c	T	C	11: 104,188,315	I647T	probably benign	Het
Srgap1	C	A	10: 121,792,487	R837L	probably benign	Het
Stpg2	C	A	3: 139,309,229	P385H	probably damaging	Het
Tmem238	C	A	7: 4,789,017	E19*	probably null	Het
Top2b	A	T	14: 16,387,331	K140*	probably null	Het
Trp53	T	A	11: 69,588,422	L142*	probably null	Het
Tyro3	A	T	2: 119,803,270	D133V	probably damaging	Het
Virma	T	A	4: 11,528,636	I1291N	probably damaging	Het
Vmn1r213	A	G	13: 23,011,337		probably benign	Het
Zbtb10	T	C	3: 9,264,550	S323P	possibly damaging	Het
Zfp521	A	T	18: 13,845,603	N584K	probably damaging	Het
Zfp944	A	G	17: 22,339,199	C356R	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
R4471:Celf3	UTSW	3	94488278	splice 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'- ATTCTAGACAAGGTTGGGCC -3'
(R):5'- GCTCTGAAGGACGTGAACTC -3'

Sequencing Primer
(F):5'- CTACCCTTTCCTTTCCATCAACTGAG -3'
(R):5'- CTCTGAAGGACGTGAACTCTACTTG -3'

Posted On

2015-10-21