Mutagenetix > Incidental Mutation

Incidental Mutation 'LCD18:Celf2'

478285

Institutional Source

Beutler Lab

Gene Symbol

Celf2

Ensembl Gene

ENSMUSG00000002107

Gene Name

CUGBP, Elav-like family member 2

Synonyms

Cugbp2, B230345P09Rik, Napor-2, ETR-3

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.462) question?

Stock #

LCD18 (G1)

Quality Score

3478.55

Status

Validated

Chromosome

Chromosomal Location

6544505-7401345 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

N to ~~at 6779076 bp (GRCm38)~~

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002176] [ENSMUST00000114923] [ENSMUST00000114924] [ENSMUST00000114934] [ENSMUST00000123142] [ENSMUST00000137733] [ENSMUST00000182404] [ENSMUST00000183209] [ENSMUST00000170438] [ENSMUST00000183091] [ENSMUST00000183984] [ENSMUST00000182706] [ENSMUST00000182851]

AlphaFold

Q9Z0H4

Predicted Effect

probably benign
Transcript: ENSMUST00000002176

SMART Domains

Protein: ENSMUSP00000002176
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	17	95	1.29e-17	SMART
RRM	109	184	4.22e-22	SMART
low complexity region	194	223	N/A	INTRINSIC
low complexity region	252	279	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC
low complexity region	326	355	N/A	INTRINSIC
low complexity region	379	392	N/A	INTRINSIC
RRM	400	473	3.2e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114923

SMART Domains

Protein: ENSMUSP00000110573
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	41	120	1.6e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114924

SMART Domains

Protein: ENSMUSP00000110574
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	59	137	1.29e-17	SMART
RRM	151	226	4.22e-22	SMART
low complexity region	236	265	N/A	INTRINSIC
low complexity region	294	321	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
low complexity region	368	397	N/A	INTRINSIC
low complexity region	421	434	N/A	INTRINSIC
RRM	442	515	3.2e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114934

SMART Domains

Protein: ENSMUSP00000110584
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	59	137	1.29e-17	SMART
RRM	151	226	4.22e-22	SMART
low complexity region	236	265	N/A	INTRINSIC
low complexity region	294	321	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
low complexity region	368	397	N/A	INTRINSIC
low complexity region	421	434	N/A	INTRINSIC
RRM	442	515	3.2e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123142

SMART Domains

Protein: ENSMUSP00000138666
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	17	91	1.58e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137733

SMART Domains

Protein: ENSMUSP00000138694
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	17	95	1.29e-17	SMART
internal_repeat_1	109	134	2.62e-5	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138347

SMART Domains

Protein: ENSMUSP00000114914
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	24	102	1.29e-17	SMART
RRM	116	184	1.64e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182523

Predicted Effect

probably benign
Transcript: ENSMUST00000182404

SMART Domains

Protein: ENSMUSP00000138769
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	22	97	4.22e-22	SMART
low complexity region	107	136	N/A	INTRINSIC
low complexity region	165	192	N/A	INTRINSIC
low complexity region	194	206	N/A	INTRINSIC
low complexity region	254	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183209

SMART Domains

Protein: ENSMUSP00000138355
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	53	131	1.29e-17	SMART
RRM	145	220	4.22e-22	SMART
low complexity region	230	259	N/A	INTRINSIC
low complexity region	288	315	N/A	INTRINSIC
low complexity region	317	329	N/A	INTRINSIC
RRM	378	461	4.92e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170438

SMART Domains

Protein: ENSMUSP00000130829
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	59	137	1.29e-17	SMART
RRM	151	226	4.22e-22	SMART
low complexity region	236	265	N/A	INTRINSIC
low complexity region	294	321	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
RRM	384	467	4.92e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183091

SMART Domains

Protein: ENSMUSP00000138795
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	41	119	1.29e-17	SMART
RRM	133	208	4.22e-22	SMART
low complexity region	218	247	N/A	INTRINSIC
low complexity region	276	303	N/A	INTRINSIC
low complexity region	305	317	N/A	INTRINSIC
RRM	366	449	4.92e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183984

SMART Domains

Protein: ENSMUSP00000138974
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
low complexity region	2	54	N/A	INTRINSIC
RRM	104	182	1.29e-17	SMART
RRM	196	271	4.22e-22	SMART
low complexity region	281	310	N/A	INTRINSIC
low complexity region	339	366	N/A	INTRINSIC
low complexity region	368	380	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182706

SMART Domains

Protein: ENSMUSP00000138764
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	53	131	1.29e-17	SMART
RRM	145	220	4.22e-22	SMART
low complexity region	230	259	N/A	INTRINSIC
low complexity region	288	315	N/A	INTRINSIC
low complexity region	317	329	N/A	INTRINSIC
low complexity region	362	391	N/A	INTRINSIC
low complexity region	415	428	N/A	INTRINSIC
RRM	436	509	3.2e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182851

SMART Domains

Protein: ENSMUSP00000138363
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	41	119	1.29e-17	SMART
RRM	133	208	4.22e-22	SMART
low complexity region	218	247	N/A	INTRINSIC
low complexity region	276	303	N/A	INTRINSIC
low complexity region	305	317	N/A	INTRINSIC
low complexity region	350	379	N/A	INTRINSIC
low complexity region	403	416	N/A	INTRINSIC
RRM	424	497	3.2e-22	SMART

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

88% (169/191)

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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	A	G	8: 100,450,057 (GRCm39)		noncoding transcript	Het
Aff2	C	A	X: 68,791,141 (GRCm39)		probably benign	Het
Aldh1a1	C	A	19: 20,604,010 (GRCm39)		probably benign	Het
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Het
Apba2	A	T	7: 64,271,908 (GRCm39)		probably benign	Het
Apc2	G	C	10: 80,135,808 (GRCm39)		probably benign	Het
App	C	G	16: 84,822,300 (GRCm39)		probably benign	Het
Asic2	C	A	11: 80,876,570 (GRCm39)		probably benign	Het
Btk	T	C	X: 133,479,574 (GRCm39)		probably benign	Het
Car12	C	A	9: 66,668,958 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Het
Ccdc191	G	A	16: 43,742,164 (GRCm39)		probably benign	Het
Ccdc34	N		2: 110,016,318 (GRCm38)		probably benign	Het
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Het
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Het
Cdv3	C	A	9: 103,242,553 (GRCm39)		probably benign	Het
Cdv3	A	T	9: 103,242,542 (GRCm39)		probably benign	Het
Cfap299	G	A	5: 98,855,367 (GRCm39)		probably benign	Het
Clec18a	C	A	8: 111,802,768 (GRCm39)		probably benign	Het
Cnpy3	GGATGGAT	GGATAGATAGATAGATAGATGGAT	17: 47,048,462 (GRCm39)		probably benign	Het
Cntn4	A	G	6: 106,530,901 (GRCm39)		probably benign	Het
Cntnap5c	G	C	17: 58,469,155 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Cpne3	G	T	4: 19,563,382 (GRCm39)		probably benign	Het
Cracd	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	5: 76,806,589 (GRCm39)		probably benign	Het
Dab1	T	G	4: 103,903,769 (GRCm39)		probably benign	Het
Dapp1	G	A	3: 137,645,161 (GRCm39)		probably benign	Het
Dcc	G	A	18: 72,430,518 (GRCm39)		probably benign	Het
Dcun1d1	GAAAAAAAAA	GAAAAAAAAAA	3: 35,992,154 (GRCm39)		probably benign	Het
Dennd1b	G	A	1: 139,042,502 (GRCm39)		probably benign	Het
Dhdds	TAA	TA	4: 133,697,674 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Het
Dnm3	CATATATATATATATATATATATA	CATATATATATATATATATATA	1: 162,234,130 (GRCm39)		probably benign	Het
Dock10	N		1: 80,716,623 (GRCm38)		probably benign	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Het
Fgf20	A	C	8: 40,745,359 (GRCm39)		probably benign	Het
Ftsj3	G	T	11: 106,140,885 (GRCm39)		probably benign	Het
Gls	T	G	1: 52,222,526 (GRCm39)		probably benign	Het
Gm12130	T	C	11: 38,397,750 (GRCm39)		noncoding transcript	Het
Gm14936	G	A	X: 111,908,447 (GRCm39)		noncoding transcript	Het
Gm16630	C	T	6: 48,118,203 (GRCm39)		noncoding transcript	Het
Gm22194	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	10: 11,816,707 (GRCm39)		noncoding transcript	Het
Gm26917	C	G	17: 40,154,862 (GRCm39)		noncoding transcript	Het
Gm35048	GACACACACACACACACACACACACACACACACACACAC	GACACACACACACACACACACACACACACACACACAC	1: 90,449,248 (GRCm39)		noncoding transcript	Het
Gm37311	G	A	16: 77,415,169 (GRCm39)		noncoding transcript	Het
Gm37928	AACACACACACACACACACACACACACACACACA	AACACACACACACACACACACACACACACACACACA	3: 118,328,206 (GRCm39)		noncoding transcript	Het
Gm4302	T	C	10: 100,177,306 (GRCm39)	W197R	probably benign	Het
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
H2-T23	T	C	17: 36,342,108 (GRCm39)		probably benign	Het
Hgs	CTTTTTTT	CTTTTTT	11: 120,360,404 (GRCm39)		probably benign	Het
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Het
Il1rap	C	A	16: 26,450,343 (GRCm39)		probably benign	Het
Inhbc	N		10: 127,367,140 (GRCm38)		probably benign	Het
Inpp4b	C	T	8: 82,419,639 (GRCm39)		probably benign	Het
Kars1	N		8: 111,993,708 (GRCm38)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Het
Kcnh7	A	G	2: 62,880,143 (GRCm39)		probably benign	Het
Klhl1	G	C	14: 96,555,166 (GRCm39)		probably benign	Het
Lrch1	C	T	14: 75,142,461 (GRCm39)		probably benign	Het
Lrp1b	G	C	2: 42,127,574 (GRCm39)		probably benign	Het
Lsm8	G	A	6: 18,844,315 (GRCm39)		probably benign	Het
Lsm8	G	A	6: 18,854,320 (GRCm39)		probably benign	Het
Magi2	T	C	5: 20,159,509 (GRCm39)		probably benign	Het
Matcap2	N		9: 22,442,083 (GRCm38)		probably benign	Het
Mef2c	G	A	13: 83,753,942 (GRCm39)		probably benign	Het
Mei4	A	G	9: 82,069,012 (GRCm39)		probably benign	Het
Mid1	T	A	X: 168,788,560 (GRCm39)		probably benign	Het
Mndal	G	C	1: 173,707,784 (GRCm39)		probably benign	Het
Mpped2	C	A	2: 106,551,773 (GRCm39)		probably benign	Het
Mtarc2	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	1: 184,554,985 (GRCm39)		probably benign	Het
Mtf1	A	G	4: 124,723,109 (GRCm39)		probably benign	Het
Mxd1	T	C	6: 86,644,388 (GRCm39)		probably benign	Het
Nbea	G	T	3: 55,608,948 (GRCm39)		probably benign	Het
Ncor1	N		11: 62,419,782 (GRCm38)		probably benign	Het
Nox4	A	G	7: 86,892,275 (GRCm39)		probably benign	Het
Ocln	C	T	13: 100,657,075 (GRCm39)		probably benign	Het
Ofcc1	G	A	13: 40,246,443 (GRCm39)		probably benign	Het
Or5af2	T	A	11: 58,708,266 (GRCm39)	V144D	possibly damaging	Het
Paics	N		5: 76,956,744 (GRCm38)		probably null	Het
Paqr8	G	T	1: 20,984,882 (GRCm39)		probably benign	Het
Pate9	T	C	9: 36,444,849 (GRCm39)		probably benign	Het
Pdss1	C	T	2: 22,790,980 (GRCm39)		probably benign	Het
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Het
Pkhd1	G	A	1: 20,681,638 (GRCm39)		probably benign	Het
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Het
Prr16	C	T	18: 51,333,396 (GRCm39)		probably benign	Het
Prss38	T	G	11: 59,266,467 (GRCm39)		probably benign	Het
Prxl2c	G	A	13: 64,435,099 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,450,983 (GRCm39)		probably benign	Het
Pum1	N		4: 130,730,549 (GRCm38)		probably benign	Het
Rabgef1	N		5: 130,187,586 (GRCm38)		probably null	Het
Rgs16	G	A	1: 153,619,976 (GRCm39)		probably benign	Het
Riok3	G	T	18: 12,263,039 (GRCm39)		probably benign	Het
Rn18s-rs5	T	C	17: 40,159,446 (GRCm39)		noncoding transcript	Het
Robo2	N		16: 74,055,954 (GRCm38)		probably benign	Het
Rps6ka3	A	G	X: 158,062,211 (GRCm39)		probably benign	Het
Rptn	T	A	3: 93,304,848 (GRCm39)	L727Q	probably benign	Het
Slc25a46	C	A	18: 31,730,366 (GRCm39)		probably benign	Het
Spata31f1e	T	C	4: 42,792,885 (GRCm39)	T416A	probably benign	Het
Spsb1	C	T	4: 150,036,943 (GRCm39)		probably benign	Het
Tbc1d19	A	C	5: 53,974,051 (GRCm39)		probably benign	Het
Trav7-4	C	T	14: 53,698,975 (GRCm39)	L41F	probably benign	Het
Trip12	N		1: 84,754,482 (GRCm38)		probably benign	Het
Ttc13	G	A	8: 125,402,605 (GRCm39)		probably benign	Het
Ttll6	C	T	11: 96,046,084 (GRCm39)		probably benign	Het
Unc5b	C	G	10: 60,621,950 (GRCm39)		probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Het
Wars2	N		3: 99,214,774 (GRCm38)		probably null	Het
Zdhhc3	AACACACACACACACACACACACACACACACAC	AACACACACACACACACACACACACACACACACAC	9: 122,912,087 (GRCm39)		probably benign	Het
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Het
Zfp442	C	T	2: 150,261,768 (GRCm39)		probably benign	Het
Zfp808	C	T	13: 62,314,465 (GRCm39)		probably benign	Het

Other mutations in Celf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Celf2	APN	2	6,726,388 (GRCm39)	missense	probably benign	0.00
IGL01974:Celf2	APN	2	6,608,842 (GRCm39)	missense	probably damaging	1.00
IGL02159:Celf2	APN	2	6,608,988 (GRCm39)	nonsense	probably null
R0113:Celf2	UTSW	2	6,629,525 (GRCm39)	missense	probably damaging	1.00
R0511:Celf2	UTSW	2	6,608,987 (GRCm39)	missense	probably damaging	1.00
R0711:Celf2	UTSW	2	6,726,226 (GRCm39)	critical splice donor site	probably null
R1755:Celf2	UTSW	2	6,889,769 (GRCm39)	start codon destroyed	probably benign	0.01
R1802:Celf2	UTSW	2	6,554,744 (GRCm39)	missense	probably damaging	1.00
R1898:Celf2	UTSW	2	6,608,975 (GRCm39)	missense	probably damaging	1.00
R1912:Celf2	UTSW	2	6,620,564 (GRCm39)	missense	probably damaging	1.00
R2422:Celf2	UTSW	2	6,558,700 (GRCm39)	missense	probably damaging	1.00
R2848:Celf2	UTSW	2	6,608,936 (GRCm39)	missense	probably damaging	0.96
R2849:Celf2	UTSW	2	6,608,936 (GRCm39)	missense	probably damaging	0.96
R3708:Celf2	UTSW	2	6,629,489 (GRCm39)	missense	probably damaging	1.00
R4295:Celf2	UTSW	2	6,608,875 (GRCm39)	missense	probably benign	0.10
R4601:Celf2	UTSW	2	6,590,831 (GRCm39)	missense	possibly damaging	0.87
R4602:Celf2	UTSW	2	6,590,831 (GRCm39)	missense	possibly damaging	0.87
R4610:Celf2	UTSW	2	6,590,831 (GRCm39)	missense	possibly damaging	0.87
R4611:Celf2	UTSW	2	6,590,831 (GRCm39)	missense	possibly damaging	0.87
R4667:Celf2	UTSW	2	6,726,339 (GRCm39)	missense	probably benign	0.44
R4668:Celf2	UTSW	2	6,726,339 (GRCm39)	missense	probably benign	0.44
R4669:Celf2	UTSW	2	6,726,339 (GRCm39)	missense	probably benign	0.44
R4790:Celf2	UTSW	2	6,554,714 (GRCm39)	missense	probably damaging	1.00
R5022:Celf2	UTSW	2	6,612,658 (GRCm39)	intron	probably benign
R5369:Celf2	UTSW	2	7,085,892 (GRCm39)	intron	probably benign
R5540:Celf2	UTSW	2	6,558,743 (GRCm39)	missense	probably benign	0.43
R5805:Celf2	UTSW	2	6,558,598 (GRCm39)	missense	probably damaging	1.00
R5913:Celf2	UTSW	2	7,085,969 (GRCm39)	start codon destroyed	probably null	0.02
R6330:Celf2	UTSW	2	6,889,766 (GRCm39)	missense	probably benign	0.05
R7505:Celf2	UTSW	2	6,629,511 (GRCm39)	missense	probably damaging	1.00
R7662:Celf2	UTSW	2	6,558,728 (GRCm39)	missense	probably damaging	1.00
R8316:Celf2	UTSW	2	6,551,914 (GRCm39)	missense	probably benign	0.03
R8437:Celf2	UTSW	2	6,551,956 (GRCm39)	missense	probably damaging	1.00
R8860:Celf2	UTSW	2	6,565,468 (GRCm39)	critical splice donor site	probably null
R9170:Celf2	UTSW	2	6,554,646 (GRCm39)	missense	possibly damaging	0.75
R9373:Celf2	UTSW	2	6,551,915 (GRCm39)	missense	probably benign	0.24
R9374:Celf2	UTSW	2	6,590,886 (GRCm39)	missense	possibly damaging	0.95
R9382:Celf2	UTSW	2	6,726,404 (GRCm39)	missense	probably damaging	1.00
R9623:Celf2	UTSW	2	6,620,522 (GRCm39)	missense	probably damaging	1.00
R9626:Celf2	UTSW	2	6,590,835 (GRCm39)	missense	probably benign	0.33
R9718:Celf2	UTSW	2	6,726,349 (GRCm39)	missense	probably damaging	1.00
X0018:Celf2	UTSW	2	6,558,724 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-06-09