Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Celf1'

219153

Institutional Source

Beutler Lab

Gene Symbol

Celf1

Ensembl Gene

ENSMUSG00000005506

Gene Name

CUGBP, Elav-like family member 1

Synonyms

CUG-BP1, CUG-BP, D2Wsu101e, Brunol2, Cugbp1, 1600010O03Rik

MMRRC Submission

040017-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90770727-90849842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90840753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 367 (N367I)

Ref Sequence

ENSEMBL: ENSMUSP00000107082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005643] [ENSMUST00000068726] [ENSMUST00000068747] [ENSMUST00000111448] [ENSMUST00000111449] [ENSMUST00000111451] [ENSMUST00000111452] [ENSMUST00000177642] [ENSMUST00000111455]

AlphaFold

P28659

Predicted Effect

probably damaging
Transcript: ENSMUST00000005643
AA Change: N367I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005643
Gene: ENSMUSG00000005506
AA Change: N367I

Domain	Start	End	E-Value	Type
RRM	44	122	5.93e-17	SMART
RRM	136	211	2.52e-20	SMART
low complexity region	226	234	N/A	INTRINSIC
low complexity region	253	264	N/A	INTRINSIC
low complexity region	283	303	N/A	INTRINSIC
low complexity region	311	338	N/A	INTRINSIC
low complexity region	342	355	N/A	INTRINSIC
low complexity region	358	383	N/A	INTRINSIC
RRM	429	502	1.71e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068726
AA Change: N341I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000064323
Gene: ENSMUSG00000005506
AA Change: N341I

Domain	Start	End	E-Value	Type
RRM	17	95	5.93e-17	SMART
RRM	109	184	2.52e-20	SMART
low complexity region	199	207	N/A	INTRINSIC
low complexity region	226	237	N/A	INTRINSIC
low complexity region	256	276	N/A	INTRINSIC
low complexity region	283	315	N/A	INTRINSIC
low complexity region	316	329	N/A	INTRINSIC
low complexity region	332	357	N/A	INTRINSIC
RRM	403	476	1.71e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068747
AA Change: N340I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070438
Gene: ENSMUSG00000005506
AA Change: N340I

Domain	Start	End	E-Value	Type
RRM	17	95	5.93e-17	SMART
RRM	109	184	2.52e-20	SMART
low complexity region	199	207	N/A	INTRINSIC
low complexity region	226	237	N/A	INTRINSIC
low complexity region	256	276	N/A	INTRINSIC
low complexity region	284	311	N/A	INTRINSIC
low complexity region	315	328	N/A	INTRINSIC
low complexity region	331	356	N/A	INTRINSIC
RRM	402	475	1.71e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111448
AA Change: N337I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107075
Gene: ENSMUSG00000005506
AA Change: N337I

Domain	Start	End	E-Value	Type
RRM	17	95	5.93e-17	SMART
RRM	109	184	2.52e-20	SMART
low complexity region	199	207	N/A	INTRINSIC
low complexity region	252	272	N/A	INTRINSIC
low complexity region	279	311	N/A	INTRINSIC
low complexity region	312	325	N/A	INTRINSIC
low complexity region	328	353	N/A	INTRINSIC
RRM	399	472	1.71e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111449
AA Change: N340I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107076
Gene: ENSMUSG00000005506
AA Change: N340I

Domain	Start	End	E-Value	Type
RRM	17	95	5.93e-17	SMART
RRM	109	184	2.52e-20	SMART
low complexity region	199	207	N/A	INTRINSIC
low complexity region	226	237	N/A	INTRINSIC
low complexity region	256	276	N/A	INTRINSIC
low complexity region	284	311	N/A	INTRINSIC
low complexity region	315	328	N/A	INTRINSIC
low complexity region	331	356	N/A	INTRINSIC
RRM	402	475	1.71e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111451
AA Change: N340I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107078
Gene: ENSMUSG00000005506
AA Change: N340I

Domain	Start	End	E-Value	Type
RRM	17	95	5.93e-17	SMART
RRM	109	184	2.52e-20	SMART
low complexity region	199	207	N/A	INTRINSIC
low complexity region	226	237	N/A	INTRINSIC
low complexity region	256	276	N/A	INTRINSIC
low complexity region	284	311	N/A	INTRINSIC
low complexity region	315	328	N/A	INTRINSIC
low complexity region	331	356	N/A	INTRINSIC
RRM	402	475	1.71e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111452
AA Change: N367I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107079
Gene: ENSMUSG00000005506
AA Change: N367I

Domain	Start	End	E-Value	Type
RRM	44	122	5.93e-17	SMART
RRM	136	211	2.52e-20	SMART
low complexity region	226	234	N/A	INTRINSIC
low complexity region	253	264	N/A	INTRINSIC
low complexity region	283	303	N/A	INTRINSIC
low complexity region	311	338	N/A	INTRINSIC
low complexity region	342	355	N/A	INTRINSIC
low complexity region	358	383	N/A	INTRINSIC
RRM	429	502	1.71e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177642
AA Change: N340I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136109
Gene: ENSMUSG00000005506
AA Change: N340I

Domain	Start	End	E-Value	Type
RRM	17	95	5.93e-17	SMART
RRM	109	184	2.52e-20	SMART
low complexity region	199	207	N/A	INTRINSIC
low complexity region	226	237	N/A	INTRINSIC
low complexity region	256	276	N/A	INTRINSIC
low complexity region	284	311	N/A	INTRINSIC
low complexity region	315	328	N/A	INTRINSIC
low complexity region	331	356	N/A	INTRINSIC
RRM	402	475	1.71e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111455
AA Change: N367I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107082
Gene: ENSMUSG00000005506
AA Change: N367I

Domain	Start	End	E-Value	Type
RRM	44	122	5.93e-17	SMART
RRM	136	211	2.52e-20	SMART
low complexity region	226	234	N/A	INTRINSIC
low complexity region	253	264	N/A	INTRINSIC
low complexity region	283	303	N/A	INTRINSIC
low complexity region	311	338	N/A	INTRINSIC
low complexity region	342	355	N/A	INTRINSIC
low complexity region	358	383	N/A	INTRINSIC
RRM	429	502	1.71e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127385

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous disruption of this gene results in significant postnatal lethality, growth retardation, and impaired fertility in both sexes. Male infertility is caused by a blockage of spermiogenesis at stage 7 and increased germ cell apoptosis but is not fully penetrant. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,026,034 (GRCm39)	C185S	probably benign	Het
Acsbg3	A	G	17: 57,193,478 (GRCm39)	N608S	probably benign	Het
Actl6b	T	A	5: 137,567,592 (GRCm39)	S409T	probably damaging	Het
Adam34l	A	T	8: 44,080,074 (GRCm39)	V50D	probably benign	Het
Adgrf2	T	C	17: 43,021,013 (GRCm39)	T604A	probably damaging	Het
Adprs	T	A	4: 126,211,137 (GRCm39)	D260V	probably benign	Het
Akap9	A	G	5: 4,010,131 (GRCm39)	E296G	possibly damaging	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,882,831 (GRCm39)	W236R	probably damaging	Het
Atp11b	A	G	3: 35,909,271 (GRCm39)	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,309,925 (GRCm39)	T551S	probably benign	Het
Atp7b	A	T	8: 22,517,996 (GRCm39)	C281S	probably damaging	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,570,810 (GRCm39)		probably null	Het
Capn9	T	G	8: 125,318,424 (GRCm39)	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 123,370,032 (GRCm39)	V147A	probably damaging	Het
Ccdc83	T	A	7: 89,893,349 (GRCm39)	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,562 (GRCm39)	R357L	possibly damaging	Het
Cep350	T	C	1: 155,790,467 (GRCm39)	I1363V	probably benign	Het
Cfap299	C	T	5: 98,885,561 (GRCm39)	T156I	possibly damaging	Het
Colec12	T	A	18: 9,874,813 (GRCm39)	D696E	probably benign	Het
Ctbp1	C	T	5: 33,408,330 (GRCm39)	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,382,589 (GRCm39)	I293T	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dctn1	C	T	6: 83,166,938 (GRCm39)	T263I	probably damaging	Het
Ddx49	A	T	8: 70,748,094 (GRCm39)	V317E	probably damaging	Het
Edil3	G	A	13: 89,093,072 (GRCm39)		probably null	Het
Egflam	A	T	15: 7,267,285 (GRCm39)	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,858,946 (GRCm39)		probably null	Het
Gigyf2	T	G	1: 87,301,835 (GRCm39)		probably null	Het
H1f2	C	G	13: 23,923,392 (GRCm39)	S187R	probably benign	Het
Heatr4	A	G	12: 84,026,514 (GRCm39)	S248P	probably benign	Het
Hoxd1	A	T	2: 74,594,524 (GRCm39)	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,408 (GRCm39)	L305Q	probably damaging	Het
Itch	T	A	2: 155,052,379 (GRCm39)	C660S	possibly damaging	Het
Ivd	A	T	2: 118,701,981 (GRCm39)	I138F	probably benign	Het
Katnip	C	G	7: 125,459,738 (GRCm39)	H1189D	probably damaging	Het
Lcn4	G	T	2: 26,561,228 (GRCm39)	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 119,843,146 (GRCm39)	Y192H	probably damaging	Het
Mn1	T	C	5: 111,566,723 (GRCm39)	L231P	probably damaging	Het
Morc1	A	G	16: 48,386,009 (GRCm39)	D544G	probably benign	Het
Mthfd1	C	A	12: 76,344,293 (GRCm39)	T331K	probably damaging	Het
Myo18b	T	A	5: 113,021,423 (GRCm39)	Y546F	probably benign	Het
Nod1	T	C	6: 54,916,310 (GRCm39)	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,182,973 (GRCm39)	V563A	probably damaging	Het
Or13a18	T	C	7: 140,190,498 (GRCm39)	Y140H	probably damaging	Het
Or4a80	A	T	2: 89,582,417 (GRCm39)	C252S	possibly damaging	Het
Or5g29	A	G	2: 85,421,766 (GRCm39)	N294S	probably damaging	Het
Or5p72	T	C	7: 108,022,389 (GRCm39)	F204L	probably benign	Het
Or8b1b	T	C	9: 38,375,537 (GRCm39)	S67P	probably damaging	Het
Orc3	T	A	4: 34,611,049 (GRCm39)		probably null	Het
Otog	T	C	7: 45,913,498 (GRCm39)	V777A	probably benign	Het
Pbxip1	G	T	3: 89,356,020 (GRCm39)	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,611,316 (GRCm39)	D92G	probably damaging	Het
Phkb	T	A	8: 86,783,096 (GRCm39)	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,290,684 (GRCm39)	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,269,683 (GRCm39)	V3287A	probably damaging	Het
Polq	T	A	16: 36,882,844 (GRCm39)	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,552,016 (GRCm39)	S195P	probably damaging	Het
Prdm2	T	C	4: 142,861,517 (GRCm39)	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,701,651 (GRCm39)	T268S	possibly damaging	Het
Scd2	A	T	19: 44,291,610 (GRCm39)	T350S	probably benign	Het
Scn7a	T	A	2: 66,518,091 (GRCm39)	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,706,340 (GRCm39)	L259Q	probably damaging	Het
Senp6	A	G	9: 80,033,680 (GRCm39)	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,140,167 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,797,785 (GRCm39)	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,271 (GRCm39)	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,424,711 (GRCm39)	T12M	probably benign	Het
Synj2	G	T	17: 6,047,221 (GRCm39)	E20D	probably damaging	Het
Tchh	G	T	3: 93,353,281 (GRCm39)	R907L	unknown	Het
Thsd1	A	G	8: 22,749,247 (GRCm39)	E645G	probably benign	Het
Tmem176b	A	T	6: 48,812,383 (GRCm39)	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,739,265 (GRCm39)		probably null	Het
Trim44	G	A	2: 102,230,722 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,583,642 (GRCm39)	R320W	probably damaging	Het
Trmt6	A	T	2: 132,648,829 (GRCm39)	C401*	probably null	Het
Trpv5	T	C	6: 41,636,662 (GRCm39)		probably null	Het
V1rd19	T	A	7: 23,702,726 (GRCm39)	L64*	probably null	Het
Vmn1r216	A	T	13: 23,283,661 (GRCm39)	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,509,924 (GRCm39)	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,450,921 (GRCm39)	V269A	probably benign	Het
Vps13d	A	T	4: 144,881,813 (GRCm39)	V1254D	probably benign	Het
Xpr1	T	C	1: 155,156,775 (GRCm39)		probably null	Het
Zan	T	A	5: 137,450,712 (GRCm39)	T1622S	unknown	Het
Zfp112	T	C	7: 23,826,176 (GRCm39)	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,403,951 (GRCm39)	P308L	possibly damaging	Het

Other mutations in Celf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01714:Celf1	APN	2	90,839,552 (GRCm39)	missense	possibly damaging	0.83
IGL02126:Celf1	APN	2	90,831,408 (GRCm39)	missense	probably damaging	1.00
IGL02183:Celf1	APN	2	90,831,831 (GRCm39)	missense	probably damaging	1.00
IGL02350:Celf1	APN	2	90,828,933 (GRCm39)	missense	probably damaging	0.97
IGL02357:Celf1	APN	2	90,828,933 (GRCm39)	missense	probably damaging	0.97
IGL02402:Celf1	APN	2	90,829,068 (GRCm39)	missense	probably damaging	1.00
IGL02522:Celf1	APN	2	90,839,646 (GRCm39)	missense	possibly damaging	0.46
Colostrum	UTSW	2	90,831,423 (GRCm39)	missense	probably damaging	0.97
Creamy	UTSW	2	90,843,189 (GRCm39)	critical splice donor site	probably null
R0033:Celf1	UTSW	2	90,831,798 (GRCm39)	splice site	probably benign
R0033:Celf1	UTSW	2	90,831,798 (GRCm39)	splice site	probably benign
R0147:Celf1	UTSW	2	90,835,035 (GRCm39)	splice site	probably benign
R2132:Celf1	UTSW	2	90,840,791 (GRCm39)	missense	probably damaging	1.00
R3769:Celf1	UTSW	2	90,828,993 (GRCm39)	missense	probably damaging	1.00
R3845:Celf1	UTSW	2	90,839,583 (GRCm39)	missense	possibly damaging	0.46
R3857:Celf1	UTSW	2	90,843,086 (GRCm39)	missense	probably damaging	0.98
R3858:Celf1	UTSW	2	90,843,086 (GRCm39)	missense	probably damaging	0.98
R5174:Celf1	UTSW	2	90,831,353 (GRCm39)	missense	probably damaging	1.00
R5287:Celf1	UTSW	2	90,839,552 (GRCm39)	missense	possibly damaging	0.83
R6395:Celf1	UTSW	2	90,834,203 (GRCm39)	missense	probably benign	0.01
R6993:Celf1	UTSW	2	90,840,821 (GRCm39)	missense	probably damaging	1.00
R7063:Celf1	UTSW	2	90,843,189 (GRCm39)	critical splice donor site	probably null
R7242:Celf1	UTSW	2	90,833,602 (GRCm39)	nonsense	probably null
R7419:Celf1	UTSW	2	90,833,588 (GRCm39)	missense	probably benign
R7502:Celf1	UTSW	2	90,835,100 (GRCm39)	nonsense	probably null
R7921:Celf1	UTSW	2	90,829,092 (GRCm39)	missense	probably benign	0.28
R7975:Celf1	UTSW	2	90,831,423 (GRCm39)	missense	probably damaging	0.97
R8708:Celf1	UTSW	2	90,840,925 (GRCm39)	critical splice donor site	probably null
R8871:Celf1	UTSW	2	90,840,840 (GRCm39)	missense	probably damaging	1.00
R9164:Celf1	UTSW	2	90,831,426 (GRCm39)	missense	probably damaging	1.00
X0062:Celf1	UTSW	2	90,828,939 (GRCm39)	missense	possibly damaging	0.88
Z1177:Celf1	UTSW	2	90,835,050 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCAGGCCTACCATGTGCTAG -3'
(R):5'- GACCTTGACTTCTAATTCTGGTGC -3'

Sequencing Primer
(F):5'- GGCCTACCATGTGCTAGAAAACAG -3'
(R):5'- GACTTCTAATTCTGGTGCACTTAC -3'

Posted On

2014-08-25