Mutagenetix > Incidental Mutation

Incidental Mutation 'R1912:Celf2'

210345

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

MMRRC Submission

039930-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

R1912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6544505-7401345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6620564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 40 (M40K)

Ref Sequence

ENSEMBL: ENSMUSP00000138769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002176] [ENSMUST00000100429] [ENSMUST00000114924] [ENSMUST00000114927] [ENSMUST00000114934] [ENSMUST00000137733] [ENSMUST00000183091] [ENSMUST00000183209] [ENSMUST00000170438] [ENSMUST00000182879] [ENSMUST00000182851] [ENSMUST00000183984] [ENSMUST00000182404] [ENSMUST00000182706] [ENSMUST00000150624] [ENSMUST00000142941]

AlphaFold

Q9Z0H4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002176
AA Change: M127K

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002176
Gene: ENSMUSG00000002107
AA Change: M127K

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

possibly damaging
Transcript: ENSMUST00000100429
AA Change: M127K

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097996
Gene: ENSMUSG00000002107
AA Change: M127K

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	341	362	N/A	INTRINSIC
low complexity region	385	398	N/A	INTRINSIC
RRM	406	479	3.2e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114924
AA Change: M169K

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110574
Gene: ENSMUSG00000002107
AA Change: M169K

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

possibly damaging
Transcript: ENSMUST00000114927
AA Change: M127K

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110577
Gene: ENSMUSG00000002107
AA Change: M127K

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	341	359	N/A	INTRINSIC
low complexity region	383	396	N/A	INTRINSIC
RRM	404	477	3.2e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114934
AA Change: M169K

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110584
Gene: ENSMUSG00000002107
AA Change: M169K

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

possibly damaging
Transcript: ENSMUST00000137733
AA Change: M127K

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138694
Gene: ENSMUSG00000002107
AA Change: M127K

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

possibly damaging
Transcript: ENSMUST00000183091
AA Change: M151K

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138795
Gene: ENSMUSG00000002107
AA Change: M151K

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

possibly damaging
Transcript: ENSMUST00000183209
AA Change: M163K

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138355
Gene: ENSMUSG00000002107
AA Change: M163K

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

possibly damaging
Transcript: ENSMUST00000170438
AA Change: M169K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130829
Gene: ENSMUSG00000002107
AA Change: M169K

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

possibly damaging
Transcript: ENSMUST00000182879
AA Change: M127K

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

SMART Domains

Protein: ENSMUSP00000138359
Gene: ENSMUSG00000002107
AA Change: M127K

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
RRM	346	429	4.92e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182851
AA Change: M151K

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138363
Gene: ENSMUSG00000002107
AA Change: M151K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000183984
AA Change: M214K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138974
Gene: ENSMUSG00000002107
AA Change: M214K

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 damaging
Transcript: ENSMUST00000182404
AA Change: M40K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138769
Gene: ENSMUSG00000002107
AA Change: M40K

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

possibly damaging
Transcript: ENSMUST00000182706
AA Change: M163K

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138764
Gene: ENSMUSG00000002107
AA Change: M163K

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

possibly damaging
Transcript: ENSMUST00000150624
AA Change: M127K

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138297
Gene: ENSMUSG00000002107
AA Change: M127K

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	341	359	N/A	INTRINSIC
low complexity region	383	396	N/A	INTRINSIC
RRM	404	477	3.2e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142941
AA Change: M127K

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120459
Gene: ENSMUSG00000002107
AA Change: M127K

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	341	362	N/A	INTRINSIC
low complexity region	385	398	N/A	INTRINSIC
RRM	406	479	3.2e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183269

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

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. 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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,288,582 (GRCm39)	M132V	probably benign	Het
4921524L21Rik	T	A	18: 6,620,205 (GRCm39)	I45N	possibly damaging	Het
Abcb6	A	G	1: 75,156,599 (GRCm39)	V55A	probably benign	Het
Adam28	A	T	14: 68,881,780 (GRCm39)	D105E	probably benign	Het
Ahnak	T	C	19: 8,995,245 (GRCm39)	S5510P	probably damaging	Het
Aldh3b1	T	G	19: 3,971,187 (GRCm39)	D159A	probably damaging	Het
Alx1	A	G	10: 102,861,222 (GRCm39)	L102P	probably damaging	Het
Ankrd50	C	T	3: 38,510,925 (GRCm39)	V481I	probably benign	Het
Aox4	G	T	1: 58,303,561 (GRCm39)	G1200W	probably damaging	Het
Arhgap45	A	C	10: 79,856,524 (GRCm39)	D24A	probably benign	Het
Arhgef16	A	T	4: 154,364,780 (GRCm39)		probably null	Het
Asic4	A	T	1: 75,445,876 (GRCm39)	Y235F	possibly damaging	Het
Asph	T	C	4: 9,453,335 (GRCm39)	E646G	probably damaging	Het
Atg4d	A	G	9: 21,183,935 (GRCm39)	D350G	probably damaging	Het
Auts2	T	C	5: 131,472,412 (GRCm39)	T347A	probably damaging	Het
Bsnd	A	T	4: 106,345,227 (GRCm39)	L73*	probably null	Het
Cachd1	A	T	4: 100,810,366 (GRCm39)	S323C	probably damaging	Het
Cacna1e	A	G	1: 154,312,195 (GRCm39)	I1290T	probably damaging	Het
Cdh8	T	A	8: 99,825,502 (GRCm39)	N498Y	probably damaging	Het
Cdkn3	A	G	14: 47,007,291 (GRCm39)		probably null	Het
Cfap57	A	C	4: 118,472,207 (GRCm39)	S57R	probably damaging	Het
Cfh	A	G	1: 140,063,879 (GRCm39)		probably null	Het
Chdh	A	G	14: 29,754,745 (GRCm39)	S252G	probably benign	Het
Col8a1	T	A	16: 57,448,287 (GRCm39)	I408F	unknown	Het
Corin	C	T	5: 72,515,746 (GRCm39)	C303Y	probably damaging	Het
Crlf2	C	T	5: 109,705,007 (GRCm39)	C66Y	possibly damaging	Het
Csmd1	C	T	8: 16,284,012 (GRCm39)		probably null	Het
Cyp4f16	T	C	17: 32,764,018 (GRCm39)	V270A	probably damaging	Het
Defa29	T	A	8: 21,816,028 (GRCm39)	H113L	possibly damaging	Het
Dhx35	A	T	2: 158,684,227 (GRCm39)	N501Y	probably damaging	Het
Dipk1b	A	G	2: 26,522,716 (GRCm39)	E55G	probably damaging	Het
Dst	A	G	1: 34,330,931 (GRCm39)	R4690G	probably damaging	Het
Elac2	T	A	11: 64,885,089 (GRCm39)	D439E	probably benign	Het
Ercc6	A	G	14: 32,298,760 (GRCm39)	R1383G	probably damaging	Het
Fat3	T	A	9: 15,881,284 (GRCm39)	Y3196F	probably damaging	Het
Fbxw13	A	T	9: 109,010,611 (GRCm39)	D342E	probably benign	Het
Fmod	A	G	1: 133,968,458 (GRCm39)	N166S	possibly damaging	Het
Folh1	A	G	7: 86,412,175 (GRCm39)	S199P	possibly damaging	Het
Fv1	A	G	4: 147,954,235 (GRCm39)	N267S	possibly damaging	Het
Fyn	T	C	10: 39,402,828 (GRCm39)	V200A	possibly damaging	Het
Gfus	A	T	15: 75,797,498 (GRCm39)	D278E	possibly damaging	Het
Ggnbp2	T	C	11: 84,753,122 (GRCm39)	N39S	probably benign	Het
Gm10509	A	T	17: 21,909,831 (GRCm39)	I53F	possibly damaging	Het
Gpr139	A	T	7: 118,744,102 (GRCm39)	I161N	possibly damaging	Het
Grhl2	C	T	15: 37,358,651 (GRCm39)	T148I	probably damaging	Het
Hmcn1	C	A	1: 150,480,633 (GRCm39)	M4514I	probably benign	Het
Igsf10	T	G	3: 59,236,993 (GRCm39)	T1063P	probably benign	Het
Itgav	A	G	2: 83,625,830 (GRCm39)	Y792C	possibly damaging	Het
Itgb2l	T	C	16: 96,228,135 (GRCm39)	Q456R	probably benign	Het
Jph4	G	A	14: 55,345,818 (GRCm39)	A613V	probably benign	Het
Kcna2	A	G	3: 107,012,717 (GRCm39)	T433A	probably benign	Het
Kmt2e	A	G	5: 23,697,393 (GRCm39)	K97R	probably benign	Het
Krba1	C	A	6: 48,392,699 (GRCm39)	A871E	probably benign	Het
Loxhd1	T	C	18: 77,427,833 (GRCm39)	F468L	probably benign	Het
Lpin1	A	G	12: 16,596,728 (GRCm39)	V713A	probably damaging	Het
Ltbp2	T	A	12: 84,832,637 (GRCm39)	I67F	probably damaging	Het
Mdc1	G	A	17: 36,155,430 (GRCm39)	R35H	probably benign	Het
Mdc1	A	G	17: 36,161,703 (GRCm39)	D872G	probably benign	Het
Mgam	C	T	6: 40,741,119 (GRCm39)	Q959*	probably null	Het
Mttp	T	A	3: 137,821,788 (GRCm39)	T260S	probably benign	Het
Naalad2	A	T	9: 18,287,831 (GRCm39)	D266E	probably benign	Het
Nans	T	A	4: 46,500,162 (GRCm39)	L182H	probably damaging	Het
Nbas	T	A	12: 13,616,145 (GRCm39)	C2228S	probably benign	Het
Nfix	A	T	8: 85,448,306 (GRCm39)	V407E	probably damaging	Het
Nktr	T	A	9: 121,579,306 (GRCm39)		probably benign	Het
Nlrp10	G	A	7: 108,524,602 (GRCm39)	R293*	probably null	Het
Nrxn3	T	C	12: 88,762,112 (GRCm39)	F53S	probably damaging	Het
Or11h4	G	A	14: 50,974,235 (GRCm39)	P128L	probably damaging	Het
Or12e7	T	C	2: 87,287,727 (GRCm39)	S73P	probably damaging	Het
Or1e21	A	T	11: 73,344,820 (GRCm39)	F73I	probably damaging	Het
Or2f2	T	C	6: 42,767,411 (GRCm39)	I146T	probably benign	Het
Or3a1c	T	C	11: 74,046,711 (GRCm39)	C244R	probably damaging	Het
Or5ak24	T	A	2: 85,260,604 (GRCm39)	N190Y	probably damaging	Het
Or5p68	A	G	7: 107,946,014 (GRCm39)	L58P	probably damaging	Het
Or6d12	A	G	6: 116,492,950 (GRCm39)	T71A	probably benign	Het
Oxld1	A	G	11: 120,347,732 (GRCm39)	V155A	probably damaging	Het
Pamr1	T	A	2: 102,472,645 (GRCm39)	F648Y	probably damaging	Het
Parg	T	C	14: 31,932,497 (GRCm39)	W446R	probably damaging	Het
Pate13	A	T	9: 35,819,915 (GRCm39)	T23S	probably benign	Het
Phf3	A	T	1: 30,843,426 (GRCm39)	H1844Q	probably damaging	Het
Phf7	T	C	14: 30,962,281 (GRCm39)	I175V	possibly damaging	Het
Pibf1	G	A	14: 99,425,245 (GRCm39)		probably null	Het
Plcxd1	A	G	5: 110,251,308 (GRCm39)	I295V	probably benign	Het
Pole2	A	C	12: 69,256,764 (GRCm39)	Y254D	probably damaging	Het
Ppm1e	T	A	11: 87,135,196 (GRCm39)	I225F	probably benign	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Resf1	T	A	6: 149,230,342 (GRCm39)	D1129E	possibly damaging	Het
Rnase2b	T	G	14: 51,400,357 (GRCm39)	V146G	probably damaging	Het
Rnf169	G	A	7: 99,575,461 (GRCm39)	T378I	probably damaging	Het
Rpf2	A	G	10: 40,112,197 (GRCm39)	F80L	probably benign	Het
Sec11c	T	A	18: 65,947,945 (GRCm39)	D128E	probably damaging	Het
Septin12	A	G	16: 4,806,417 (GRCm39)	V248A	probably damaging	Het
Serinc1	T	C	10: 57,401,547 (GRCm39)	N82S	probably benign	Het
Serpina9	A	C	12: 103,967,508 (GRCm39)	W296G	probably damaging	Het
Sgo2b	A	C	8: 64,384,503 (GRCm39)	D164E	probably damaging	Het
Slc15a3	A	G	19: 10,825,977 (GRCm39)	N223D	probably damaging	Het
Slc44a3	A	G	3: 121,325,815 (GRCm39)	Y12H	probably benign	Het
Slco3a1	A	G	7: 74,154,359 (GRCm39)	F42S	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Snx7	A	T	3: 117,623,317 (GRCm39)		probably null	Het
Sorl1	A	T	9: 41,993,246 (GRCm39)	D259E	probably damaging	Het
Stpg2	G	A	3: 139,228,742 (GRCm39)		probably null	Het
Strn	T	A	17: 78,991,824 (GRCm39)	Y165F	probably damaging	Het
Sval2	T	A	6: 41,841,254 (GRCm39)	*106R	probably null	Het
Tcaf3	A	G	6: 42,573,622 (GRCm39)	S197P	possibly damaging	Het
Tespa1	C	A	10: 130,190,592 (GRCm39)	T73N	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Thoc5	C	A	11: 4,865,561 (GRCm39)	T380K	probably benign	Het
Tmprss7	T	A	16: 45,476,911 (GRCm39)	R784*	probably null	Het
Trank1	A	T	9: 111,219,777 (GRCm39)	L2171F	probably benign	Het
Trpm2	T	G	10: 77,781,710 (GRCm39)	K303T	probably benign	Het
Unc80	G	A	1: 66,549,784 (GRCm39)	V681M	probably damaging	Het
Usp40	A	G	1: 87,874,368 (GRCm39)	F1131L	probably benign	Het
Vmn1r215	A	T	13: 23,260,673 (GRCm39)	I238F	possibly damaging	Het
Vwa3a	A	T	7: 120,394,850 (GRCm39)	Y890F	probably damaging	Het
Zdhhc18	A	G	4: 133,341,171 (GRCm39)	L234P	probably damaging	Het
Zfp109	A	G	7: 23,927,676 (GRCm39)	S578P	probably damaging	Het
Zfp704	T	C	3: 9,674,418 (GRCm39)	D121G	unknown	Het
Zgrf1	G	T	3: 127,356,786 (GRCm39)	V671L	probably benign	Het
Zkscan8	A	T	13: 21,704,927 (GRCm39)	C265*	probably null	Het
Zscan26	T	C	13: 21,629,310 (GRCm39)	I398V	possibly damaging	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
LCD18:Celf2	UTSW	2	6,779,076 (GRCm38)	intron	probably benign
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
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

PCR Primer
(F):5'- ACTCAGACCTTTTCACCTGGAC -3'
(R):5'- TCTCTCGTGGCCAAGCTTAG -3'

Sequencing Primer
(F):5'- TGAGATGTACTGCAAGCTGACCC -3'
(R):5'- CAAGCTTAGCCTGGTGTGGTAAC -3'

Posted On

2014-06-30