Mutagenetix > Incidental Mutations

Incidental Mutation 'R3548:Celf3'

268296

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

040667-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R3548 (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

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]

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 92.8%

Validation Efficiency

97% (35/36)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	A	G	3: 88,693,136		probably benign	Het
Amph	C	A	13: 19,102,959	H279Q	probably damaging	Het
Ankrd28	A	G	14: 31,715,260	L646S	probably benign	Het
Arntl	A	T	7: 113,313,545	I610F	probably damaging	Het
Chrnb2	T	A	3: 89,761,591	Y139F	probably benign	Het
Clcc1	T	A	3: 108,668,113	C169S	probably benign	Het
Clip1	A	G	5: 123,631,078	L532P	probably damaging	Het
Cr2	A	T	1: 195,155,888	C1089*	probably null	Het
Dnah10	A	T	5: 124,747,630	I617F	possibly damaging	Het
F12	T	C	13: 55,418,137	N132D	probably benign	Het
Fhit	T	C	14: 9,870,095	T125A	probably benign	Het
Frs3	T	G	17: 47,703,636	I418S	probably damaging	Het
Gpr149	A	T	3: 62,595,128	C436S	probably benign	Het
Igsf10	C	A	3: 59,336,514	R133L	probably damaging	Het
Il17rb	A	G	14: 30,008,772		probably null	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Mtus2	C	A	5: 148,295,506	H120Q	probably damaging	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Ncf1	T	A	5: 134,226,609	K143*	probably null	Het
Nes	C	A	3: 87,973,122		probably benign	Het
Nid2	T	A	14: 19,763,711	Y195N	probably damaging	Het
Nlrp9c	A	T	7: 26,371,451	C790S	probably damaging	Het
Olfr1448	A	T	19: 12,919,667	I214N	probably benign	Het
Phf24	T	G	4: 42,937,879	Y85*	probably null	Het
Pycr1	T	C	11: 120,642,246	S33G	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sirt2	A	G	7: 28,767,671	E19G	probably damaging	Het
Sort1	T	C	3: 108,337,909	V359A	possibly damaging	Het
Tnni1	A	G	1: 135,805,053		probably null	Het
Ube2q1	T	A	3: 89,781,076	M183K	probably damaging	Het
Vmn1r50	T	A	6: 90,107,494	F74I	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
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

Predicted Primers

PCR Primer
(F):5'- GGGATAAGAACGCCCATGTG -3'
(R):5'- GATGTGACGAACTCAGTCCTAAG -3'

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

Posted On

2015-02-19