Mutagenetix > Incidental Mutation

Incidental Mutation 'R7502:Celf1'

581519

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

045575-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R7502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90770727-90849842 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 90835100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 194 (Q194*)

Ref Sequence

ENSEMBL: ENSMUSP00000136109 (fasta)

Gene Model

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

AlphaFold

P28659

Predicted Effect

probably null
Transcript: ENSMUST00000005643
AA Change: Q221*

SMART Domains

Protein: ENSMUSP00000005643
Gene: ENSMUSG00000005506
AA Change: Q221*

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

probably null
Transcript: ENSMUST00000068726
AA Change: Q194*

SMART Domains

Protein: ENSMUSP00000064323
Gene: ENSMUSG00000005506
AA Change: Q194*

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

probably null
Transcript: ENSMUST00000068747
AA Change: Q194*

SMART Domains

Protein: ENSMUSP00000070438
Gene: ENSMUSG00000005506
AA Change: Q194*

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 null
Transcript: ENSMUST00000111448
AA Change: Q194*

SMART Domains

Protein: ENSMUSP00000107075
Gene: ENSMUSG00000005506
AA Change: Q194*

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

probably null
Transcript: ENSMUST00000111449
AA Change: Q194*

SMART Domains

Protein: ENSMUSP00000107076
Gene: ENSMUSG00000005506
AA Change: Q194*

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 null
Transcript: ENSMUST00000111451
AA Change: Q194*

SMART Domains

Protein: ENSMUSP00000107078
Gene: ENSMUSG00000005506
AA Change: Q194*

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 null
Transcript: ENSMUST00000111452
AA Change: Q221*

SMART Domains

Protein: ENSMUSP00000107079
Gene: ENSMUSG00000005506
AA Change: Q221*

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

probably null
Transcript: ENSMUST00000177642
AA Change: Q194*

SMART Domains

Protein: ENSMUSP00000136109
Gene: ENSMUSG00000005506
AA Change: Q194*

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 null
Transcript: ENSMUST00000111455
AA Change: Q221*

SMART Domains

Protein: ENSMUSP00000107082
Gene: ENSMUSG00000005506
AA Change: Q221*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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
Acan	A	G	7: 78,743,951 (GRCm39)	T661A	probably damaging	Het
Actrt2	T	C	4: 154,751,383 (GRCm39)	Y251C	probably benign	Het
Adat3	T	A	10: 80,442,255 (GRCm39)	V31D	probably damaging	Het
Adgrf4	T	C	17: 42,980,548 (GRCm39)	H179R	possibly damaging	Het
Ahcyl1	A	T	3: 107,578,513 (GRCm39)	Y241*	probably null	Het
Anks1	C	A	17: 28,227,114 (GRCm39)	T589K	possibly damaging	Het
Arhgap15	A	G	2: 43,670,630 (GRCm39)	T5A	probably benign	Het
Cacna1e	A	T	1: 154,344,734 (GRCm39)	M1130K	probably null	Het
Ccdc121rt1	G	A	1: 181,338,443 (GRCm39)	Q170*	probably null	Het
Ceacam18	A	T	7: 43,286,298 (GRCm39)	D57V	probably damaging	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Cep170	T	C	1: 176,583,595 (GRCm39)	D163G	probably damaging	Het
Cfap210	A	T	2: 69,606,488 (GRCm39)	D309E	probably benign	Het
Cftr	T	C	6: 18,214,295 (GRCm39)	F157S	probably damaging	Het
Chchd3	T	C	6: 32,945,164 (GRCm39)	E114G	probably damaging	Het
Cntnap2	T	A	6: 46,460,963 (GRCm39)	S666R	possibly damaging	Het
Col6a5	C	T	9: 105,753,075 (GRCm39)	V2266I	probably benign	Het
Ctr9	A	G	7: 110,633,133 (GRCm39)	D127G	probably benign	Het
Ctsl	A	T	13: 64,514,882 (GRCm39)	F141I	probably damaging	Het
Dcpp1	T	A	17: 24,101,615 (GRCm39)	Y121*	probably null	Het
Ddx42	T	C	11: 106,138,565 (GRCm39)	V788A	probably benign	Het
Ehd4	T	C	2: 119,921,874 (GRCm39)	I461V	probably benign	Het
Elp6	C	A	9: 110,134,376 (GRCm39)	L5I	possibly damaging	Het
Faap20	T	C	4: 155,334,793 (GRCm39)	S2P		Het
Fam98b	A	C	2: 117,094,344 (GRCm39)	Y218S	probably damaging	Het
Fbxl4	T	A	4: 22,376,655 (GRCm39)	D30E	probably benign	Het
Fcrlb	T	C	1: 170,736,210 (GRCm39)	T189A	probably damaging	Het
Gfpt1	A	G	6: 87,043,671 (GRCm39)	D302G	probably benign	Het
Gzmg	T	G	14: 56,394,284 (GRCm39)	E203D	not run	Het
Hsph1	A	C	5: 149,553,838 (GRCm39)	V210G	probably damaging	Het
Il20rb	A	T	9: 100,350,479 (GRCm39)	M138K	probably damaging	Het
Itpr1	A	T	6: 108,360,639 (GRCm39)	E688D	probably benign	Het
Jmjd1c	T	G	10: 67,067,794 (GRCm39)	S1585A	probably damaging	Het
Kcnk3	A	T	5: 30,780,062 (GRCm39)	T371S	possibly damaging	Het
Kif11	T	A	19: 37,398,255 (GRCm39)	S694T	possibly damaging	Het
Kpna7	T	A	5: 144,942,731 (GRCm39)	H85L	probably benign	Het
Lipf	A	T	19: 33,954,006 (GRCm39)	I366F	probably damaging	Het
Lrrc27	A	G	7: 138,794,748 (GRCm39)	H37R	probably benign	Het
Mki67	T	C	7: 135,302,512 (GRCm39)	T841A	possibly damaging	Het
Mtss1	A	G	15: 58,820,210 (GRCm39)	S120P	probably damaging	Het
Nav1	A	G	1: 135,397,404 (GRCm39)	W922R	probably damaging	Het
Nwd1	A	G	8: 73,434,021 (GRCm39)	E1206G	probably damaging	Het
Obscn	T	C	11: 58,885,635 (GRCm39)	S7933G	unknown	Het
Or13j1	T	C	4: 43,706,316 (GRCm39)	H84R	probably damaging	Het
Or1p4-ps1	T	C	11: 74,208,010 (GRCm39)	V53A	probably benign	Het
Or2g25	T	A	17: 37,971,122 (GRCm39)	Y34F	probably damaging	Het
Or2k2	T	C	4: 58,785,648 (GRCm39)	I25V	probably benign	Het
Or4c52	T	C	2: 89,845,355 (GRCm39)	L27S	probably benign	Het
Otog	A	T	7: 45,948,039 (GRCm39)	I162F	probably damaging	Het
Paf1	G	A	7: 28,095,293 (GRCm39)	V153I	possibly damaging	Het
Pcdhga11	T	A	18: 37,889,554 (GRCm39)	D187E	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitrm1	G	T	13: 6,610,658 (GRCm39)	R424L	probably damaging	Het
Pla2g4e	T	A	2: 120,004,819 (GRCm39)		probably null	Het
Plaat1	T	C	16: 29,046,919 (GRCm39)	V146A	probably benign	Het
Prorp	T	C	12: 55,351,206 (GRCm39)	Y172H	probably damaging	Het
Prrc2a	T	C	17: 35,381,286 (GRCm39)	N61S	unknown	Het
Ror1	T	A	4: 100,190,827 (GRCm39)	D61E	probably benign	Het
Ryr3	G	A	2: 112,542,706 (GRCm39)	P3168S	probably benign	Het
Serinc4	T	A	2: 121,284,250 (GRCm39)	I289F	probably damaging	Het
Sez6l	A	T	5: 112,623,347 (GRCm39)	L68H	possibly damaging	Het
Sez6l2	A	G	7: 126,560,915 (GRCm39)	E460G	probably benign	Het
Sh3tc1	C	T	5: 35,863,406 (GRCm39)	G927D	probably damaging	Het
Slc22a27	G	C	19: 7,903,747 (GRCm39)	T130S	probably damaging	Het
Slc38a8	C	A	8: 120,227,820 (GRCm39)	A37S	possibly damaging	Het
Slc40a1	T	C	1: 45,958,134 (GRCm39)	N100D	probably damaging	Het
Slc49a3	G	A	5: 108,591,646 (GRCm39)		probably null	Het
Snx30	T	C	4: 59,894,567 (GRCm39)	F382L	possibly damaging	Het
Sox1	A	G	8: 12,446,913 (GRCm39)	N185D	possibly damaging	Het
Spsb1	C	T	4: 149,991,385 (GRCm39)	R61H	possibly damaging	Het
Sptbn2	T	C	19: 4,798,110 (GRCm39)	V1945A	probably benign	Het
St18	T	A	1: 6,898,194 (GRCm39)	N665K	probably benign	Het
Syne1	A	G	10: 5,283,446 (GRCm39)	S1540P	probably damaging	Het
Syne2	G	A	12: 76,141,100 (GRCm39)	V1331M	probably damaging	Het
Tfap2c	T	C	2: 172,393,639 (GRCm39)	S185P	probably benign	Het
Tnfsf8	T	A	4: 63,769,398 (GRCm39)	D71V	probably damaging	Het
Tnn	T	C	1: 159,937,929 (GRCm39)	D1196G	probably benign	Het
Ttll8	A	G	15: 88,817,639 (GRCm39)		probably null	Het
Tubgcp3	A	G	8: 12,691,207 (GRCm39)	F444L	probably damaging	Het
Txndc11	G	A	16: 10,905,742 (GRCm39)	P596L	probably benign	Het
Ubr4	C	T	4: 139,139,983 (GRCm39)	P1189S	possibly damaging	Het
Usp32	T	C	11: 84,913,724 (GRCm39)	D869G	possibly damaging	Het
Vmn1r202	G	T	13: 22,686,188 (GRCm39)	N76K	probably damaging	Het
Wfdc6a	C	T	2: 164,421,761 (GRCm39)	M132I	probably benign	Het
Wnk2	A	T	13: 49,300,720 (GRCm39)		probably null	Het
Xbp1	A	G	11: 5,474,683 (GRCm39)		probably null	Het
Zfp551	A	T	7: 12,149,725 (GRCm39)	Y561*	probably null	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
R2008:Celf1	UTSW	2	90,840,753 (GRCm39)	missense	probably damaging	0.97
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
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'- CTGCCTTGACTCAGGAAGAAG -3'
(R):5'- GCTTGTTAGCTAGAGACAGCAG -3'

Sequencing Primer
(F):5'- ATTATAGGTGTCTGTCCACAGCACG -3'
(R):5'- TTGTTAGCTAGAGACAGCAGAAGAAG -3'

Posted On

2019-10-17