Mutagenetix > Incidental Mutation

Incidental Mutation 'R6521:Celf4'

543422

Institutional Source

Beutler Lab

Gene Symbol

Celf4

Ensembl Gene

ENSMUSG00000024268

Gene Name

CUGBP, Elav-like family member 4

Synonyms

C130060B05Rik, A230070D14Rik, BRUNOL-4, Brunol4, Brul4

MMRRC Submission

044647-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6521 (G1)

Quality Score

98.0078

Status

Validated

Chromosome

Chromosomal Location

25610689-25887214 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 25612531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000224553]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000224553

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

100% (48/48)

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 transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, shortened life span dependent on genetic background, and seizures. Mice heterozygous for a null allele exhibit complex seizures and abnormal body weights depending on age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,769,968 (GRCm39)	S356T	probably benign	Het
Acsbg2	T	C	17: 57,168,565 (GRCm39)	M185V	probably benign	Het
Adgrv1	A	T	13: 81,581,771 (GRCm39)	F4758I	probably damaging	Het
Ank3	A	G	10: 69,828,596 (GRCm39)		probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Ano4	A	G	10: 88,819,640 (GRCm39)	V537A	probably damaging	Het
Catsper2	A	G	2: 121,237,288 (GRCm39)	L204P	probably damaging	Het
Cdh20	A	C	1: 104,869,859 (GRCm39)	D193A	probably damaging	Het
Ceacam5	T	C	7: 17,484,756 (GRCm39)		probably null	Het
Cfap91	A	G	16: 38,127,121 (GRCm39)	V545A	probably benign	Het
Crebbp	A	T	16: 3,936,992 (GRCm39)	F754I	probably damaging	Het
Cyfip2	A	T	11: 46,145,415 (GRCm39)	I635N	probably damaging	Het
Erbb4	T	A	1: 68,081,689 (GRCm39)	D1131V	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Hoxc8	G	A	15: 102,901,135 (GRCm39)	V193M	probably benign	Het
Klhdc3	A	G	17: 46,988,687 (GRCm39)	V124A	probably benign	Het
Klhl18	A	G	9: 110,257,703 (GRCm39)	I509T	possibly damaging	Het
Mdfic	T	A	6: 15,729,027 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,467,479 (GRCm39)	D64E	probably damaging	Het
Mmd2	A	G	5: 142,560,585 (GRCm39)	I112T	probably damaging	Het
Mpl	C	T	4: 118,312,314 (GRCm39)		probably null	Het
Mtmr4	A	G	11: 87,504,353 (GRCm39)	T1044A	possibly damaging	Het
Muc5b	C	A	7: 141,412,908 (GRCm39)	Y1951*	probably null	Het
Myo15a	C	T	11: 60,393,195 (GRCm39)	H2240Y	probably damaging	Het
Nckap5	A	T	1: 126,309,909 (GRCm39)	I74K	probably damaging	Het
Nfxl1	A	T	5: 72,697,651 (GRCm39)		probably null	Het
Or11j4	T	C	14: 50,631,005 (GRCm39)	V264A	possibly damaging	Het
Or2ah1	A	T	2: 85,653,794 (GRCm39)	I160F	probably benign	Het
Or4c11c	A	G	2: 88,661,700 (GRCm39)	I80V	probably benign	Het
Or8d2	C	T	9: 38,759,893 (GRCm39)	T161I	probably benign	Het
Piezo2	T	C	18: 63,154,399 (GRCm39)	Y2460C	probably damaging	Het
Pigx	A	G	16: 31,906,129 (GRCm39)	L64P	probably damaging	Het
Prss1	C	T	6: 41,440,615 (GRCm39)	T230I	probably damaging	Het
Ptma	A	G	1: 86,455,569 (GRCm39)		probably null	Het
Rab39	T	C	9: 53,617,331 (GRCm39)	T29A	probably benign	Het
Rem2	C	T	14: 54,715,144 (GRCm39)	A107V	possibly damaging	Het
Senp1	A	G	15: 97,946,152 (GRCm39)	V531A	probably damaging	Het
Serhl	A	G	15: 82,985,843 (GRCm39)		probably null	Het
Sirpa	T	G	2: 129,472,075 (GRCm39)	Y164D	probably damaging	Het
Slc12a3	T	C	8: 95,069,741 (GRCm39)	I550T	possibly damaging	Het
Slc22a14	T	C	9: 119,049,835 (GRCm39)		probably null	Het
Slfn5	A	G	11: 82,851,241 (GRCm39)	N513D	probably damaging	Het
Sptan1	T	C	2: 29,910,467 (GRCm39)	S1831P	possibly damaging	Het
Swap70	T	C	7: 109,855,027 (GRCm39)	L109P	probably benign	Het
Tas2r119	G	A	15: 32,178,319 (GRCm39)	C295Y	probably damaging	Het
Tcaf3	T	A	6: 42,570,172 (GRCm39)	I527L	probably damaging	Het
Traj31	A	G	14: 54,425,387 (GRCm39)		probably benign	Het
Unc5a	T	A	13: 55,152,748 (GRCm39)	D887E	probably benign	Het
Zfp407	T	A	18: 84,450,536 (GRCm39)	H1600L	probably damaging	Het

Other mutations in Celf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Celf4	APN	18	25,620,007 (GRCm39)	missense	probably damaging	1.00
IGL01608:Celf4	APN	18	25,630,560 (GRCm39)	missense	probably damaging	1.00
IGL02353:Celf4	APN	18	25,619,955 (GRCm39)	missense	probably damaging	1.00
IGL02360:Celf4	APN	18	25,619,955 (GRCm39)	missense	probably damaging	1.00
IGL02614:Celf4	APN	18	25,637,207 (GRCm39)	missense	probably damaging	1.00
IGL03183:Celf4	APN	18	25,670,797 (GRCm39)	missense	probably benign	0.22
IGL03183:Celf4	APN	18	25,670,796 (GRCm39)	missense	probably benign	0.05
R1141:Celf4	UTSW	18	25,637,961 (GRCm39)	missense	probably damaging	0.99
R1448:Celf4	UTSW	18	25,636,140 (GRCm39)	splice site	probably null
R2442:Celf4	UTSW	18	25,886,516 (GRCm39)	missense	probably damaging	1.00
R3958:Celf4	UTSW	18	25,670,811 (GRCm39)	missense	probably benign	0.08
R3959:Celf4	UTSW	18	25,670,811 (GRCm39)	missense	probably benign	0.08
R3960:Celf4	UTSW	18	25,670,811 (GRCm39)	missense	probably benign	0.08
R4256:Celf4	UTSW	18	25,624,258 (GRCm39)	missense	probably damaging	0.97
R4650:Celf4	UTSW	18	25,629,302 (GRCm39)	missense	possibly damaging	0.79
R6945:Celf4	UTSW	18	25,629,293 (GRCm39)	missense	probably damaging	1.00
R7724:Celf4	UTSW	18	25,619,850 (GRCm39)	critical splice donor site	probably null
R7834:Celf4	UTSW	18	25,886,542 (GRCm39)	missense	probably benign	0.04
R8000:Celf4	UTSW	18	25,637,574 (GRCm39)	missense	probably benign	0.00
R8403:Celf4	UTSW	18	25,637,327 (GRCm39)	missense	possibly damaging	0.90
R9087:Celf4	UTSW	18	25,637,327 (GRCm39)	missense	probably damaging	1.00
R9452:Celf4	UTSW	18	25,624,219 (GRCm39)	missense	probably benign	0.13
RF048:Celf4	UTSW	18	25,634,378 (GRCm39)	missense	probably benign	0.02
Z1088:Celf4	UTSW	18	25,629,306 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGGCCCCATTGTACACTTGC -3'
(R):5'- TTTAGGGCAGGATGCTGAACG -3'

Sequencing Primer
(F):5'- GTACACTTGCCCCTGCCTG -3'
(R):5'- TGCTGAACGGGCTACATTAAAAAC -3'

Posted On

2018-12-03