Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02103:Celf3'

279845

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Celf3

Ensembl Gene

ENSMUSG00000028137

Gene Name

CUGBP, Elav-like family member 3

Synonyms

BRUNOL1, CAGH4, 4930415M08Rik, Tnrc4, ERDA4

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

IGL02103

Quality Score

Status

Chromosome

Chromosomal Location

94478295-94492198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94486801 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 137 (Q137L)

Ref Sequence

ENSEMBL: ENSMUSP00000142542 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029784
AA Change: Q212L

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029784
Gene: ENSMUSG00000028137
AA Change: Q212L

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
AA Change: Q136L

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143733
Gene: ENSMUSG00000028137
AA Change: Q136L

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
AA Change: Q137L

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143089
Gene: ENSMUSG00000028137
AA Change: Q137L

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 benign
Transcript: ENSMUST00000198316
AA Change: Q136L

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142412
Gene: ENSMUSG00000028137
AA Change: Q136L

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 damaging
Transcript: ENSMUST00000198384
AA Change: Q137L

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

SMART Domains

Protein: ENSMUSP00000142542
Gene: ENSMUSG00000028137
AA Change: Q137L

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

possibly damaging
Transcript: ENSMUST00000200342
AA Change: Q213L

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137
AA Change: Q213L

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

possibly damaging
Transcript: ENSMUST00000199775
AA Change: Q213L

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143532
Gene: ENSMUSG00000028137
AA Change: Q213L

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

noncoding transcript
Transcript: ENSMUST00000199159

Predicted Effect

probably benign
Transcript: ENSMUST00000199884

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	A	12: 84,612,364	T206M	probably benign	Het
Adcy3	T	A	12: 4,134,390	V22D	possibly damaging	Het
Alb	G	A	5: 90,464,131	E140K	probably benign	Het
Aph1a	G	A	3: 95,895,813	V193I	probably damaging	Het
Asb2	G	A	12: 103,333,496	R178*	probably null	Het
Cmya5	T	C	13: 93,092,127	D2151G	probably benign	Het
Cuedc1	T	A	11: 88,188,799	S353T	probably damaging	Het
Dlg5	A	C	14: 24,144,346	L1709R	probably damaging	Het
Dst	T	C	1: 34,190,118	I1939T	possibly damaging	Het
Emx2	A	T	19: 59,461,698	N149I	probably benign	Het
Fancm	A	G	12: 65,095,784	D472G	probably benign	Het
Fasn	T	C	11: 120,811,936	Y1700C	probably damaging	Het
Fat2	T	A	11: 55,289,296	R1406S	probably damaging	Het
Fat4	C	A	3: 38,889,199	T747K	probably damaging	Het
Fer	A	G	17: 64,138,928	M795V	probably benign	Het
Gm5916	A	G	9: 36,128,674	L6P	probably damaging	Het
Gpr139	A	G	7: 119,145,132	F77L	possibly damaging	Het
Kcnu1	T	C	8: 25,905,948	S654P	possibly damaging	Het
Kdm5c	T	A	X: 152,248,766	F408L	probably damaging	Het
Kel	A	G	6: 41,702,389	S147P	probably benign	Het
Klra5	A	T	6: 129,911,344		probably null	Het
Mastl	A	G	2: 23,139,998	S239P	probably benign	Het
Med18	A	T	4: 132,459,666	V174D	probably damaging	Het
Mgat4a	A	T	1: 37,462,926	M247K	possibly damaging	Het
Mx2	A	C	16: 97,544,595	D71A	probably damaging	Het
Nxt1	G	T	2: 148,675,644	E102*	probably null	Het
Olfr125	A	G	17: 37,835,278	Q93R	possibly damaging	Het
Olfr410	A	G	11: 74,335,036	F65S	probably damaging	Het
Olfr828	T	C	9: 18,815,709	N195S	probably damaging	Het
Pcdhb16	T	A	18: 37,480,108	V707E	probably benign	Het
Pdzrn4	T	A	15: 92,769,887	V640E	probably damaging	Het
Piwil4	T	C	9: 14,725,986		probably null	Het
Pla2g4a	A	T	1: 149,901,199	D55E	probably damaging	Het
Plekhg2	C	A	7: 28,360,076	R1276L	probably damaging	Het
Psd4	G	A	2: 24,400,528	W539*	probably null	Het
Rae1	G	A	2: 173,003,513	E33K	probably damaging	Het
Rbm12b1	T	A	4: 12,145,563	F512I	probably damaging	Het
Rfx6	A	G	10: 51,726,856	D823G	possibly damaging	Het
Samt3	A	T	X: 86,047,153	Q217L	probably damaging	Het
Selenbp2	A	G	3: 94,698,131	N134S	probably null	Het
Selenoo	T	C	15: 89,099,970	V663A	probably damaging	Het
Sp4	G	T	12: 118,299,549	T254N	probably damaging	Het
Spdya	A	G	17: 71,578,247	K232R	probably benign	Het
Stom	A	T	2: 35,320,389	V201E	probably benign	Het
Sycp3	A	G	10: 88,466,472	K108R	possibly damaging	Het
Usp2	A	G	9: 44,089,128		probably benign	Het
Vmn1r226	T	C	17: 20,687,664	S53P	probably damaging	Het
Vmn2r14	C	T	5: 109,224,483	G47D	probably damaging	Het
Vwf	T	G	6: 125,646,355	L1805W	probably damaging	Het
Washc3	A	T	10: 88,201,825	Q22L	probably damaging	Het
Wdr81	T	A	11: 75,444,720	D1761V	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
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
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

Posted On

2015-04-16