Mutagenetix > Incidental Mutation

Incidental Mutation 'R8978:Celf3'

683551

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

068811-MU

Accession Numbers

Essential gene?

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

Stock #

R8978 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94385602-94399505 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94392667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 122 (D122G)

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

possibly damaging
Transcript: ENSMUST00000029784
AA Change: D121G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029784
Gene: ENSMUSG00000028137
AA Change: D121G

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

possibly damaging
Transcript: ENSMUST00000197558
AA Change: D45G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143733
Gene: ENSMUSG00000028137
AA Change: D45G

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: D46G

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143089
Gene: ENSMUSG00000028137
AA Change: D46G

Domain	Start	End	E-Value	Type
RRM	20	95	8.7e-22	SMART
low complexity region	133	145	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198316
AA Change: D45G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142412
Gene: ENSMUSG00000028137
AA Change: D45G

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
AA Change: D46G

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142542
Gene: ENSMUSG00000028137
AA Change: D46G

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: D122G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143532
Gene: ENSMUSG00000028137
AA Change: D122G

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 benign
Transcript: ENSMUST00000200342
AA Change: D122G

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137
AA Change: D122G

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: 99.4%
20x: 97.8%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,192,395 (GRCm39)	F224L	probably benign	Het
Adam39	A	G	8: 41,278,707 (GRCm39)	D366G	probably damaging	Het
Adamts14	T	A	10: 61,038,795 (GRCm39)	E902V	probably damaging	Het
Adamts6	T	C	13: 104,512,247 (GRCm39)	C490R	probably damaging	Het
Btbd3	T	C	2: 138,126,055 (GRCm39)	V413A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cdadc1	G	T	14: 59,813,197 (GRCm39)	N403K	probably damaging	Het
Cdc27	C	T	11: 104,399,211 (GRCm39)	V734I	possibly damaging	Het
Chgb	T	C	2: 132,634,498 (GRCm39)	S147P	probably benign	Het
Col9a1	G	A	1: 24,278,396 (GRCm39)	G808D	probably damaging	Het
Cpne7	A	G	8: 123,861,177 (GRCm39)		probably null	Het
Crhr1	T	C	11: 104,064,480 (GRCm39)	F330S	possibly damaging	Het
Csmd1	A	C	8: 15,971,056 (GRCm39)	N3086K	probably benign	Het
Ctnnb1	A	G	9: 120,786,650 (GRCm39)	D624G	probably damaging	Het
Dcaf8	G	A	1: 172,022,124 (GRCm39)	R554H	probably benign	Het
Dmbt1	T	C	7: 130,639,611 (GRCm39)	Y50H	possibly damaging	Het
Dmxl1	T	C	18: 50,055,679 (GRCm39)	L2573P	probably benign	Het
Ebf2	G	A	14: 67,661,548 (GRCm39)	G559S	probably benign	Het
Fancd2	A	G	6: 113,562,507 (GRCm39)		probably benign	Het
Fkbp10	A	T	11: 100,313,936 (GRCm39)	I427F	probably benign	Het
Gipc1	T	C	8: 84,389,046 (GRCm39)		probably null	Het
Gm1110	A	T	9: 26,807,095 (GRCm39)		probably benign	Het
Gsdmc3	A	G	15: 63,731,455 (GRCm39)	L359P	probably damaging	Het
Hspg2	A	G	4: 137,291,341 (GRCm39)	D3897G	probably benign	Het
Ift122	T	A	6: 115,902,769 (GRCm39)	M1117K	possibly damaging	Het
Itgbl1	A	T	14: 124,209,617 (GRCm39)	D456V	probably damaging	Het
Itprid2	T	A	2: 79,491,257 (GRCm39)	L1014Q	probably damaging	Het
Kctd1	G	T	18: 15,119,491 (GRCm39)	L675I		Het
Kyat3	C	T	3: 142,443,596 (GRCm39)	T403M	probably benign	Het
Ltbp2	T	C	12: 84,834,164 (GRCm39)	T1442A	probably benign	Het
Mier2	A	C	10: 79,376,790 (GRCm39)	S45R	unknown	Het
Mon2	T	A	10: 122,871,469 (GRCm39)	K383*	probably null	Het
Mroh4	G	T	15: 74,499,473 (GRCm39)	T136K	probably benign	Het
Mtif3	A	T	5: 146,895,846 (GRCm39)	S80R	probably benign	Het
Myh2	A	C	11: 67,068,188 (GRCm39)	E272A	probably damaging	Het
Myh2	A	G	11: 67,080,323 (GRCm39)	Q1179R	probably damaging	Het
Nfatc3	G	A	8: 106,835,402 (GRCm39)	C916Y	probably benign	Het
Or13a17	A	T	7: 140,271,642 (GRCm39)	T275S	probably benign	Het
Or2w2	T	A	13: 21,758,279 (GRCm39)	T116S	probably benign	Het
Or7g21	T	A	9: 19,032,582 (GRCm39)	C107*	probably null	Het
Orc2	T	C	1: 58,511,499 (GRCm39)	D370G	possibly damaging	Het
Pate7	A	T	9: 35,688,069 (GRCm39)		probably benign	Het
Pcdhga6	T	A	18: 37,840,716 (GRCm39)	N145K	probably benign	Het
Pih1d2	A	G	9: 50,536,232 (GRCm39)	M296V	probably benign	Het
Prickle4	A	T	17: 47,999,772 (GRCm39)		probably benign	Het
Rabl6	G	A	2: 25,477,541 (GRCm39)	P303L	probably damaging	Het
Rara	T	G	11: 98,862,595 (GRCm39)	I332S	probably damaging	Het
Reln	A	G	5: 22,090,512 (GRCm39)	F3449L	possibly damaging	Het
Rhoq	T	C	17: 87,271,767 (GRCm39)	L61P		Het
Rigi	A	G	4: 40,239,650 (GRCm39)	I16T	probably damaging	Het
Slc6a15	G	A	10: 103,230,953 (GRCm39)	W226*	probably null	Het
Spef2	A	T	15: 9,725,263 (GRCm39)	S165T	possibly damaging	Het
Stab2	T	C	10: 86,785,782 (GRCm39)	N620S	possibly damaging	Het
Suds3	A	G	5: 117,232,973 (GRCm39)		probably null	Het
Sult1b1	A	G	5: 87,682,900 (GRCm39)	I15T	possibly damaging	Het
Synm	C	A	7: 67,384,672 (GRCm39)	V997L	probably damaging	Het
Tgfbi	C	A	13: 56,778,391 (GRCm39)	D387E	probably benign	Het
Thrb	T	C	14: 17,981,886 (GRCm38)	C4R	possibly damaging	Het
Tk2	A	G	8: 104,957,809 (GRCm39)	V179A	possibly damaging	Het
Trim25	T	C	11: 88,907,027 (GRCm39)	V462A	probably benign	Het
Tub	T	C	7: 108,629,393 (GRCm39)	Y483H	probably damaging	Het
Vav1	A	G	17: 57,603,710 (GRCm39)	T131A	probably benign	Het
Vav1	A	G	17: 57,631,650 (GRCm39)	T781A	probably benign	Het
Zbtb34	A	G	2: 33,301,048 (GRCm39)	S498P	possibly damaging	Het
Zfp568	T	A	7: 29,716,683 (GRCm39)	H194Q	probably benign	Het
Zfp683	A	T	4: 133,781,239 (GRCm39)	Q18L	probably benign	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
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
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'- ATCAGTTCTTCACACCCTCGAG -3'
(R):5'- CAGCGTGAGTCTGGAACTTCAC -3'

Sequencing Primer
(F):5'- AGCCACAGTTTCCCAGGATG -3'
(R):5'- TGAGTCTGGAACTTCACAAAGGC -3'

Posted On

2021-10-11