Mutagenetix > Incidental Mutation

Incidental Mutation 'R6986:Celf3'

542954

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

045093-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R6986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94385602-94399505 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 94395024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 313 (A313P)

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 benign
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

probably benign
Transcript: ENSMUST00000197558
AA Change: A236P

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143733
Gene: ENSMUSG00000028137
AA Change: A236P

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

probably benign
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 benign
Transcript: ENSMUST00000199884

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200342
AA Change: A313P

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137
AA Change: A313P

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: 99.9%
10x: 99.3%
20x: 98.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	T	C	16: 4,129,441 (GRCm39)	N482D	probably damaging	Het
Agbl3	A	G	6: 34,816,387 (GRCm39)	K766E	probably benign	Het
Aldh3a1	T	A	11: 61,105,077 (GRCm39)	I154N	probably damaging	Het
Cdca2	C	T	14: 67,932,446 (GRCm39)	V486I	probably benign	Het
Cgrrf1	T	C	14: 47,069,586 (GRCm39)		probably benign	Het
Chd7	T	A	4: 8,859,285 (GRCm39)	N2458K	possibly damaging	Het
Chrna5	T	A	9: 54,913,741 (GRCm39)	M429K	possibly damaging	Het
Cux2	A	T	5: 122,006,642 (GRCm39)	L876Q	possibly damaging	Het
Cyb5rl	T	A	4: 106,928,073 (GRCm39)	S3T	probably benign	Het
Ehd4	A	T	2: 119,927,571 (GRCm39)	M321K	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Endod1	T	C	9: 14,268,606 (GRCm39)	E293G	probably damaging	Het
Fat3	G	A	9: 15,932,631 (GRCm39)	T1434I	probably damaging	Het
Flrt2	T	A	12: 95,747,459 (GRCm39)	I599N	probably damaging	Het
Gm6370	T	A	5: 146,430,398 (GRCm39)		probably null	Het
Gm7247	T	C	14: 51,602,832 (GRCm39)	M56T	possibly damaging	Het
H3c8	A	G	13: 23,719,603 (GRCm39)		probably benign	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Ints8	T	C	4: 11,204,474 (GRCm39)	Y994C	probably damaging	Het
Irf1	A	G	11: 53,664,966 (GRCm39)	T165A	probably damaging	Het
Lgr6	G	T	1: 134,921,694 (GRCm39)	Q217K	possibly damaging	Het
Lrrc36	T	C	8: 106,185,079 (GRCm39)	S619P	probably damaging	Het
Morn4	T	C	19: 42,066,453 (GRCm39)	N45D	possibly damaging	Het
Mtarc2	T	C	1: 184,573,460 (GRCm39)	H53R	probably benign	Het
Mtmr3	T	C	11: 4,439,692 (GRCm39)	T583A	probably damaging	Het
Ncdn	A	G	4: 126,641,022 (GRCm39)	Y493H	probably damaging	Het
Nckap1	T	A	2: 80,350,911 (GRCm39)	Y726F	probably benign	Het
Optc	T	A	1: 133,825,702 (GRCm39)	M275L	probably benign	Het
Or2w25	A	G	11: 59,504,924 (GRCm39)	K378R	possibly damaging	Het
Or6c69c	G	A	10: 129,911,199 (GRCm39)	V307M	possibly damaging	Het
Perm1	A	T	4: 156,302,976 (GRCm39)	K507*	probably null	Het
Pgbd5	C	T	8: 125,111,212 (GRCm39)	E160K	possibly damaging	Het
Polr2k	C	A	15: 36,175,181 (GRCm39)	P14T	probably benign	Het
Ppp2r3d	A	T	9: 124,439,080 (GRCm38)	Y112*	probably null	Het
Pramel14	T	A	4: 143,719,888 (GRCm39)	D159V	probably damaging	Het
Rnase9	T	C	14: 51,276,537 (GRCm39)	N147S	probably benign	Het
Rnls	C	T	19: 33,359,781 (GRCm39)	G11D	probably damaging	Het
Sbf2	T	C	7: 109,929,822 (GRCm39)	T333A	probably damaging	Het
Scn3a	A	T	2: 65,338,962 (GRCm39)	N572K	probably damaging	Het
Serinc3	A	G	2: 163,469,891 (GRCm39)	L319P	probably benign	Het
Setbp1	T	C	18: 78,901,054 (GRCm39)	D871G	probably damaging	Het
Sf3b2	T	C	19: 5,329,923 (GRCm39)	T661A	probably benign	Het
Sgsm2	T	A	11: 74,782,867 (GRCm39)	R30W	probably damaging	Het
Sh3tc1	A	G	5: 35,881,288 (GRCm39)	S52P	probably benign	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
Snrpa	A	T	7: 26,892,389 (GRCm39)	M57K	probably damaging	Het
Spata31f3	A	G	4: 42,868,696 (GRCm39)	V309A	possibly damaging	Het
Srbd1	A	T	17: 86,292,650 (GRCm39)	I973N	probably damaging	Het
Srp72	T	A	5: 77,142,723 (GRCm39)	S428T	probably benign	Het
Ss18l2	A	G	9: 121,541,671 (GRCm39)	Y50C	probably damaging	Het
St14	A	G	9: 31,007,845 (GRCm39)	L578P	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Tmc1	T	C	19: 20,801,647 (GRCm39)	N460D	probably benign	Het
Tnni3k	C	T	3: 154,667,501 (GRCm39)	G280R	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trpc3	A	G	3: 36,709,165 (GRCm39)		probably null	Het
Tshr	C	T	12: 91,500,731 (GRCm39)	A152V	probably damaging	Het
Tuft1	G	A	3: 94,521,461 (GRCm39)	P358S	probably damaging	Het
Vmn2r120	A	T	17: 57,816,340 (GRCm39)	S672T	probably damaging	Het
Vmn2r83	G	T	10: 79,316,093 (GRCm39)	E496D	probably benign	Het
Vmn2r91	A	G	17: 18,356,271 (GRCm39)	N646S	probably benign	Het
Zfp9	A	G	6: 118,441,426 (GRCm39)	V412A	possibly damaging	Het
Zmynd8	G	T	2: 165,675,335 (GRCm39)	H273N	probably 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
R7357:Celf3	UTSW	3	94,387,637 (GRCm39)	missense	probably damaging	0.99
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'- AAATGCTCCTCGGGTTCCTC -3'
(R):5'- CTAGATGGGTTGCCCTATGC -3'

Sequencing Primer
(F):5'- CTTCCCTGAGCATGGAATTAAAGGC -3'
(R):5'- TTGCCCTATGCGAGTCCG -3'

Posted On

2018-11-28