Mutagenetix > Incidental Mutation

Incidental Mutation 'R7357:Celf3'

571013

Institutional Source

Beutler Lab

Gene Symbol

Celf3

Ensembl Gene

ENSMUSG00000028137

Gene Name

CUGBP, Elav-like family member 3

Synonyms

BRUNOL1, Tnrc4, CAGH4, ERDA4, 4930415M08Rik

MMRRC Submission

045443-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R7357 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94385602-94399505 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94387637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 70 (E70K)

Ref Sequence

ENSEMBL: ENSMUSP00000143344 (fasta)

Gene Model

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

AlphaFold

Q8CIN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029784
AA Change: E70K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029784
Gene: ENSMUSG00000028137
AA Change: E70K

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

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

probably benign
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

possibly damaging
Transcript: ENSMUST00000199775
AA Change: E70K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143532
Gene: ENSMUSG00000028137
AA Change: E70K

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 benign
Transcript: ENSMUST00000199884

Predicted Effect

probably damaging
Transcript: ENSMUST00000200342
AA Change: E70K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137
AA Change: E70K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (64/66)

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
6430550D23Rik	A	T	2: 155,845,787 (GRCm39)	H23Q	unknown	Het
9530068E07Rik	A	T	11: 52,297,821 (GRCm39)	K233I	probably damaging	Het
Aldh1l2	T	C	10: 83,350,408 (GRCm39)	M320V	possibly damaging	Het
C2cd3	A	G	7: 100,079,310 (GRCm39)	N838S		Het
Cacna1s	T	C	1: 135,998,759 (GRCm39)	F218S	probably damaging	Het
Carmil3	G	T	14: 55,728,590 (GRCm39)		probably benign	Het
Cd300a	A	T	11: 114,784,153 (GRCm39)	T54S	probably benign	Het
Celsr1	A	C	15: 85,914,715 (GRCm39)	M1086R	probably benign	Het
Ces2f	G	A	8: 105,676,595 (GRCm39)	M96I	probably benign	Het
Chrdl2	G	A	7: 99,678,414 (GRCm39)	V329I	probably benign	Het
Ctc1	T	A	11: 68,925,568 (GRCm39)	L1035Q	probably benign	Het
Dbi	A	G	1: 120,047,623 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,882,568 (GRCm39)	I405T	probably benign	Het
Dpp4	A	T	2: 62,217,421 (GRCm39)	W59R	probably benign	Het
Dsg3	T	A	18: 20,672,840 (GRCm39)	I837N	probably damaging	Het
Fbxw15	A	G	9: 109,387,308 (GRCm39)	V229A	probably benign	Het
Fermt3	T	C	19: 6,980,211 (GRCm39)	T395A	probably benign	Het
Focad	A	T	4: 88,147,572 (GRCm39)	I404F	probably benign	Het
Gm8104	T	C	14: 42,959,068 (GRCm39)	I86T	probably damaging	Het
Gm9857	A	C	3: 108,847,478 (GRCm39)	L95R	unknown	Het
Hoxa1	A	T	6: 52,133,929 (GRCm39)	S266T	probably benign	Het
Kif19b	A	G	5: 140,480,806 (GRCm39)	R979G	possibly damaging	Het
Leng8	T	A	7: 4,147,932 (GRCm39)	Y625*	probably null	Het
Mast3	A	G	8: 71,237,503 (GRCm39)	V557A	probably damaging	Het
Morc1	T	C	16: 48,442,953 (GRCm39)	F813L	probably benign	Het
Ntf3	T	A	6: 126,078,961 (GRCm39)	I182F	probably damaging	Het
Nup153	G	T	13: 46,870,642 (GRCm39)	A91E	probably benign	Het
Or13l2	G	C	3: 97,317,971 (GRCm39)	N175K	probably damaging	Het
Or52h1	A	T	7: 103,828,978 (GRCm39)	D212E	probably damaging	Het
Pamr1	G	A	2: 102,417,049 (GRCm39)	W120*	probably null	Het
Pcsk1	A	G	13: 75,274,079 (GRCm39)	N436S	probably damaging	Het
Pde4dip	T	C	3: 97,622,857 (GRCm39)	K1451E	probably benign	Het
Pebp4	G	A	14: 70,285,864 (GRCm39)	V176I	possibly damaging	Het
Phgdh	G	A	3: 98,247,138 (GRCm39)	A4V	probably benign	Het
Pik3c2g	T	C	6: 139,610,791 (GRCm39)		probably null	Het
Ppic	T	C	18: 53,544,139 (GRCm39)	Y82C	probably damaging	Het
Ppip5k2	A	G	1: 97,686,941 (GRCm39)	V94A	possibly damaging	Het
Ppp1r9b	T	C	11: 94,895,424 (GRCm39)	V704A	probably benign	Het
Pramel6	G	T	2: 87,340,856 (GRCm39)	R396L	not run	Het
Prss48	A	T	3: 85,904,528 (GRCm39)	D223E	probably damaging	Het
Psd3	T	C	8: 68,574,149 (GRCm39)	K11E	probably benign	Het
Rabgap1l	T	C	1: 160,169,608 (GRCm39)	K780E	probably damaging	Het
Retreg1	A	T	15: 25,972,029 (GRCm39)	D323V	probably damaging	Het
Samd11	A	T	4: 156,340,067 (GRCm39)		probably null	Het
Sec14l3	T	A	11: 4,020,127 (GRCm39)	F188Y	probably benign	Het
Serpina5	A	T	12: 104,069,639 (GRCm39)	T284S	possibly damaging	Het
Setx	A	G	2: 29,020,313 (GRCm39)	D100G	probably benign	Het
Sis	A	T	3: 72,832,404 (GRCm39)	V1035D	probably damaging	Het
Slco4a1	A	G	2: 180,113,930 (GRCm39)	I456V	probably benign	Het
Snx14	A	T	9: 88,286,369 (GRCm39)	C393S	possibly damaging	Het
Stil	T	C	4: 114,871,423 (GRCm39)		probably null	Het
Sult6b1	A	G	17: 79,202,059 (GRCm39)	S148P	probably damaging	Het
Sycp2	G	T	2: 178,045,597 (GRCm39)		probably null	Het
Tesmin	T	C	19: 3,447,042 (GRCm39)	I273T	probably benign	Het
Tmem39a	T	A	16: 38,406,592 (GRCm39)	Y310N	probably damaging	Het
Trp53bp1	A	T	2: 121,041,781 (GRCm39)	D1258E	probably damaging	Het
Ttc12	A	C	9: 49,349,687 (GRCm39)	D703E	probably benign	Het
Unc13c	TATAA	TATAATAA	9: 73,840,810 (GRCm39)		probably benign	Het
Unc13c	ATA	ATAGTA	9: 73,840,811 (GRCm39)		probably benign	Het
Usp18	T	C	6: 121,230,808 (GRCm39)	I79T	possibly damaging	Het
Usp9y	A	T	Y: 1,333,656 (GRCm39)	D1596E	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,536 (GRCm39)	V607E	probably damaging	Het
Vwa8	G	A	14: 79,275,641 (GRCm39)	R808K	probably null	Het
Zfp248	A	G	6: 118,406,618 (GRCm39)	Y324H	probably damaging	Het
Zfp513	G	A	5: 31,357,132 (GRCm39)	P387S	possibly damaging	Het

Other mutations in Celf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Celf3	APN	3	94,395,535 (GRCm39)	missense	possibly damaging	0.70
IGL02103:Celf3	APN	3	94,394,108 (GRCm39)	missense	probably damaging	1.00
IGL03007:Celf3	APN	3	94,394,444 (GRCm39)	missense	probably benign	0.00
R0180:Celf3	UTSW	3	94,392,647 (GRCm39)	missense	probably damaging	1.00
R0670:Celf3	UTSW	3	94,395,537 (GRCm39)	small deletion	probably benign
R1965:Celf3	UTSW	3	94,392,634 (GRCm39)	missense	probably damaging	1.00
R2232:Celf3	UTSW	3	94,387,566 (GRCm39)	splice site	probably null
R2566:Celf3	UTSW	3	94,395,537 (GRCm39)	small deletion	probably benign
R3546:Celf3	UTSW	3	94,395,845 (GRCm39)	missense	probably damaging	1.00
R3547:Celf3	UTSW	3	94,395,845 (GRCm39)	missense	probably damaging	1.00
R3548:Celf3	UTSW	3	94,395,845 (GRCm39)	missense	probably damaging	1.00
R4015:Celf3	UTSW	3	94,394,505 (GRCm39)	missense	probably benign	0.02
R4471:Celf3	UTSW	3	94,395,585 (GRCm39)	splice site	probably null
R4698:Celf3	UTSW	3	94,392,174 (GRCm39)	critical splice donor site	probably null
R4816:Celf3	UTSW	3	94,386,529 (GRCm39)	missense	probably damaging	1.00
R4939:Celf3	UTSW	3	94,395,537 (GRCm39)	small deletion	probably benign
R5851:Celf3	UTSW	3	94,386,433 (GRCm39)	missense	probably damaging	1.00
R6277:Celf3	UTSW	3	94,392,672 (GRCm39)	missense	probably damaging	1.00
R6400:Celf3	UTSW	3	94,387,593 (GRCm39)	missense	probably damaging	1.00
R6986:Celf3	UTSW	3	94,395,024 (GRCm39)	missense	possibly damaging	0.83
R7556:Celf3	UTSW	3	94,387,590 (GRCm39)	missense	probably damaging	1.00
R8141:Celf3	UTSW	3	94,395,850 (GRCm39)	missense	probably damaging	1.00
R8290:Celf3	UTSW	3	94,386,489 (GRCm39)	missense	probably benign	0.44
R8978:Celf3	UTSW	3	94,392,667 (GRCm39)	missense	probably benign	0.22
R9255:Celf3	UTSW	3	94,392,594 (GRCm39)	missense	probably benign	0.25
R9636:Celf3	UTSW	3	94,394,580 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CCAAGCAGGTAGAGATGTCC -3'
(R):5'- GCTCCTCAGAAAAGGTCACTCC -3'

Sequencing Primer
(F):5'- CAGAAGGGGAAAATCGCTCCTC -3'
(R):5'- CCACTCCTAAGGCTATTGG -3'

Posted On

2019-09-13