Mutagenetix > Incidental Mutation

Incidental Mutation 'R4650:Celf4'

351245

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4650 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

25610689-25887214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25629302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 407 (M407K)

Ref Sequence

ENSEMBL: ENSMUSP00000153226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025117] [ENSMUST00000115816] [ENSMUST00000223704] [ENSMUST00000224553] [ENSMUST00000225477]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025117
AA Change: M398K

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025117
Gene: ENSMUSG00000024268
AA Change: M398K

Domain	Start	End	E-Value	Type
RRM	55	131	2.94e-21	SMART
RRM	152	227	3.56e-20	SMART
low complexity region	237	249	N/A	INTRINSIC
low complexity region	258	276	N/A	INTRINSIC
low complexity region	287	309	N/A	INTRINSIC
low complexity region	312	322	N/A	INTRINSIC
low complexity region	376	396	N/A	INTRINSIC
low complexity region	399	412	N/A	INTRINSIC
RRM	420	473	5.29e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115816
AA Change: M407K

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

SMART Domains

Protein: ENSMUSP00000111483
Gene: ENSMUSG00000024268
AA Change: M407K

Domain	Start	End	E-Value	Type
RRM	55	131	2.94e-21	SMART
RRM	152	227	3.56e-20	SMART
low complexity region	237	249	N/A	INTRINSIC
low complexity region	258	276	N/A	INTRINSIC
low complexity region	287	309	N/A	INTRINSIC
low complexity region	312	322	N/A	INTRINSIC
low complexity region	376	396	N/A	INTRINSIC
low complexity region	399	412	N/A	INTRINSIC
RRM	420	493	5.88e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223704
AA Change: M408K

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000224553
AA Change: M407K

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225477
AA Change: M407K

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226091

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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 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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	T	A	16: 88,860,603 (GRCm39)	Y77F	unknown	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Aldoa	A	G	7: 126,396,879 (GRCm39)	S71P	possibly damaging	Het
Arhgef12	A	G	9: 42,893,266 (GRCm39)	V979A	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Brd8	T	C	18: 34,739,752 (GRCm39)	T674A	probably benign	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Capza1	A	G	3: 104,752,296 (GRCm39)	V14A	probably damaging	Het
Cdk2	A	T	10: 128,538,364 (GRCm39)	I135N	probably damaging	Het
Cenpf	A	T	1: 189,392,235 (GRCm39)	D532E	probably benign	Het
Cideb	A	G	14: 55,992,688 (GRCm39)	V76A	possibly damaging	Het
Dbpht2	C	G	12: 74,345,933 (GRCm39)		noncoding transcript	Het
Dis3l2	A	G	1: 86,918,043 (GRCm39)	D550G	possibly damaging	Het
Dnah1	A	T	14: 31,006,844 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,619,307 (GRCm39)	L1293*	probably null	Het
Elp5	A	G	11: 69,860,398 (GRCm39)	V203A	possibly damaging	Het
Fndc7	T	C	3: 108,770,135 (GRCm39)	N597S	probably benign	Het
Gjb3	T	C	4: 127,220,484 (GRCm39)	Y16C	probably damaging	Het
Gm5773	A	G	3: 93,680,712 (GRCm39)	D128G	probably benign	Het
Gnb1l	T	C	16: 18,363,025 (GRCm39)		probably null	Het
Gon4l	G	A	3: 88,770,859 (GRCm39)	D514N	possibly damaging	Het
Grhl3	T	A	4: 135,276,547 (GRCm39)		probably null	Het
Hoxc10	T	C	15: 102,875,698 (GRCm39)	S136P	probably benign	Het
Ift22	G	A	5: 136,940,655 (GRCm39)	V107I	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lgi4	G	A	7: 30,768,554 (GRCm39)	A518T	probably benign	Het
Lhx2	T	A	2: 38,250,052 (GRCm39)	N290K	probably damaging	Het
Ltbp4	A	T	7: 27,013,734 (GRCm39)	C1092S	probably damaging	Het
Macf1	T	C	4: 123,367,412 (GRCm39)	I2450V	probably benign	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Myb	A	G	10: 21,028,840 (GRCm39)	L86P	probably damaging	Het
Myh3	C	T	11: 66,977,270 (GRCm39)	T333M	probably damaging	Het
Nek11	T	C	9: 105,225,279 (GRCm39)	N78D	possibly damaging	Het
Nmi	C	A	2: 51,838,646 (GRCm39)	C296F	probably benign	Het
Nphs1	A	T	7: 30,181,895 (GRCm39)	T1163S	probably benign	Het
Npy4r	C	T	14: 33,868,181 (GRCm39)	G369D	possibly damaging	Het
Ola1	T	C	2: 72,972,309 (GRCm39)	T221A	probably damaging	Het
Or51d1	A	G	7: 102,348,027 (GRCm39)	D194G	probably damaging	Het
Or8c11	T	C	9: 38,289,699 (GRCm39)	F168S	probably damaging	Het
Pfkfb2	A	T	1: 130,633,200 (GRCm39)	N184K	possibly damaging	Het
Plce1	T	C	19: 38,513,088 (GRCm39)	V129A	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Pth	A	T	7: 112,985,026 (GRCm39)	*116K	probably null	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rwdd3	A	G	3: 120,952,826 (GRCm39)	F55S	probably damaging	Het
Serpinb9d	A	T	13: 33,386,836 (GRCm39)	L301F	probably benign	Het
Slc35e4	A	G	11: 3,862,677 (GRCm39)	C171R	probably damaging	Het
Slco1a4	A	T	6: 141,758,424 (GRCm39)	I529K	possibly damaging	Het
Styk1	A	T	6: 131,277,532 (GRCm39)	W370R	probably damaging	Het
Tmprss11e	C	A	5: 86,875,212 (GRCm39)	W18L	probably damaging	Het
Trpv1	A	C	11: 73,129,089 (GRCm39)	E2A	probably benign	Het
Unc13b	T	A	4: 43,261,035 (GRCm39)	I1799N	probably damaging	Het
Vmn1r213	G	A	13: 23,196,422 (GRCm39)	C335Y	possibly damaging	Het
Vps37c	C	T	19: 10,690,273 (GRCm39)	S245L	probably benign	Het
Wrn	T	C	8: 33,745,537 (GRCm39)	T1191A	probably benign	Het
Zfp13	A	G	17: 23,799,112 (GRCm39)	L153P	probably damaging	Het
Zfp472	T	G	17: 33,196,631 (GRCm39)	S235R	possibly 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
R6521:Celf4	UTSW	18	25,612,531 (GRCm39)	splice site	probably null
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'- AGGACATCTTCTTCTGGCCC -3'
(R):5'- CACCAGGTATCATCTGAGAAGTG -3'

Sequencing Primer
(F):5'- AGGACATCTTCTTCTGGCCCTATAAC -3'
(R):5'- GTGGCCCTTACCAACACTG -3'

Posted On

2015-10-08