Mutagenetix > Incidental Mutation

Incidental Mutation 'R6395:Celf1'

514696

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R6395 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90770727-90849842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90834203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 165 (I165V)

Ref Sequence

ENSEMBL: ENSMUSP00000064323 (fasta)

Gene Model

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

AlphaFold

P28659

Predicted Effect

probably benign
Transcript: ENSMUST00000005643
AA Change: I192V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000005643
Gene: ENSMUSG00000005506
AA Change: I192V

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 benign
Transcript: ENSMUST00000068726
AA Change: I165V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000064323
Gene: ENSMUSG00000005506
AA Change: I165V

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 benign
Transcript: ENSMUST00000068747
AA Change: I165V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000070438
Gene: ENSMUSG00000005506
AA Change: I165V

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 benign
Transcript: ENSMUST00000111448
AA Change: I165V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107075
Gene: ENSMUSG00000005506
AA Change: I165V

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 benign
Transcript: ENSMUST00000111449
AA Change: I165V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107076
Gene: ENSMUSG00000005506
AA Change: I165V

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 benign
Transcript: ENSMUST00000111451
AA Change: I165V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107078
Gene: ENSMUSG00000005506
AA Change: I165V

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 benign
Transcript: ENSMUST00000111452
AA Change: I192V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107079
Gene: ENSMUSG00000005506
AA Change: I192V

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 benign
Transcript: ENSMUST00000177642
AA Change: I165V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000136109
Gene: ENSMUSG00000005506
AA Change: I165V

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 benign
Transcript: ENSMUST00000111455
AA Change: I192V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107082
Gene: ENSMUSG00000005506
AA Change: I192V

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: ENSMUST00000154442

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	C	A	2: 113,879,731 (GRCm39)	E243*	probably null	Het
Ahi1	T	C	10: 20,855,491 (GRCm39)	I600T	possibly damaging	Het
Apob	A	G	12: 8,058,507 (GRCm39)	T2330A	probably benign	Het
Cabin1	A	T	10: 75,582,576 (GRCm39)	M280K	probably benign	Het
Ccdc117	T	C	11: 5,484,762 (GRCm39)		probably null	Het
Cct8	G	T	16: 87,283,364 (GRCm39)	Y292*	probably null	Het
Cenpc1	A	T	5: 86,183,429 (GRCm39)	N453K	probably benign	Het
Chst10	T	C	1: 38,910,770 (GRCm39)	I131M	probably damaging	Het
Cltc	A	G	11: 86,616,006 (GRCm39)	I420T	probably damaging	Het
Cspg4b	T	G	13: 113,506,003 (GRCm39)	C2377W	probably damaging	Het
Dact3	A	C	7: 16,617,086 (GRCm39)	Q95P	probably damaging	Het
Dennd2c	T	C	3: 103,056,540 (GRCm39)		probably null	Het
Dock2	G	T	11: 34,182,874 (GRCm39)	H1586Q	probably damaging	Het
Dst	T	C	1: 34,221,771 (GRCm39)	M2525T	probably benign	Het
Egflam	T	C	15: 7,261,176 (GRCm39)	H786R	probably damaging	Het
Eml6	T	C	11: 29,759,321 (GRCm39)	T811A	probably benign	Het
Epha1	T	C	6: 42,343,106 (GRCm39)	T148A	probably damaging	Het
Fsip1	A	C	2: 118,067,406 (GRCm39)	S306A	probably damaging	Het
Gga2	A	T	7: 121,607,661 (GRCm39)		probably null	Het
Gm10801	C	CGTT	2: 98,494,152 (GRCm39)		probably benign	Het
Gm9837	T	A	11: 53,360,885 (GRCm39)		probably benign	Het
Gnl2	A	T	4: 124,940,058 (GRCm39)	Q310L	probably damaging	Het
H2-M1	T	C	17: 36,982,701 (GRCm39)	D53G	probably benign	Het
Hmcn2	T	A	2: 31,259,269 (GRCm39)	D1036E	probably damaging	Het
Htr3a	A	T	9: 48,811,871 (GRCm39)	D381E	probably benign	Het
Igdcc4	G	A	9: 65,042,400 (GRCm39)	G106R	probably damaging	Het
Igfbp2	A	G	1: 72,864,078 (GRCm39)	T114A	probably damaging	Het
Ints14	A	G	9: 64,885,406 (GRCm39)		probably null	Het
Kcnt1	T	A	2: 25,799,251 (GRCm39)	M906K	possibly damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lars2	A	G	9: 123,200,990 (GRCm39)	Q18R	probably benign	Het
Mndal	C	T	1: 173,698,999 (GRCm39)	C222Y	possibly damaging	Het
Msto1	C	T	3: 88,812,781 (GRCm39)	A1854V	possibly damaging	Het
Musk	G	A	4: 58,286,169 (GRCm39)	G20R	probably benign	Het
Or6c215	G	T	10: 129,638,013 (GRCm39)	P127Q	probably damaging	Het
Oxct1	G	T	15: 4,056,309 (GRCm39)	S19I	possibly damaging	Het
Papss2	G	A	19: 32,641,876 (GRCm39)	G517D	probably damaging	Het
Parp14	T	C	16: 35,676,918 (GRCm39)	S1017G	probably benign	Het
Pde2a	A	G	7: 101,150,242 (GRCm39)	Q227R	probably benign	Het
Pdlim5	G	T	3: 142,020,183 (GRCm39)	P92Q	probably damaging	Het
Pkd1l3	C	T	8: 110,350,595 (GRCm39)	T480I	probably benign	Het
Pla2g4c	C	T	7: 13,077,933 (GRCm39)	T357I	probably benign	Het
Ppp3ca	A	G	3: 136,583,531 (GRCm39)	R213G	possibly damaging	Het
Pramel18	G	A	4: 101,767,189 (GRCm39)	R146H	probably benign	Het
Prrc1	C	T	18: 57,495,619 (GRCm39)	S32L	probably null	Het
Prss47	C	T	13: 65,197,116 (GRCm39)	V207I	probably benign	Het
Prtg	G	A	9: 72,819,414 (GRCm39)	V1136I	possibly damaging	Het
Psmb8	T	A	17: 34,418,265 (GRCm39)	M69K	possibly damaging	Het
Rb1	A	T	14: 73,436,636 (GRCm39)	D876E	probably damaging	Het
Rnasel	T	C	1: 153,637,867 (GRCm39)	M680T	probably damaging	Het
Rnf111	G	T	9: 70,383,692 (GRCm39)	N80K	possibly damaging	Het
Senp1	C	T	15: 97,946,074 (GRCm39)	C557Y	probably damaging	Het
Serpina3a	A	T	12: 104,082,710 (GRCm39)	Y161F	probably damaging	Het
Serpinb11	A	T	1: 107,299,781 (GRCm39)		probably null	Het
Sgpl1	C	A	10: 60,947,936 (GRCm39)		probably null	Het
Slc37a4	A	G	9: 44,310,576 (GRCm39)	Y60C	probably damaging	Het
Slc38a10	A	G	11: 120,015,208 (GRCm39)	S381P	probably benign	Het
Slc5a7	C	T	17: 54,585,849 (GRCm39)	V323I	probably damaging	Het
Slco1a7	T	A	6: 141,668,818 (GRCm39)		probably null	Het
Smarcal1	A	T	1: 72,655,716 (GRCm39)	E665V	possibly damaging	Het
Specc1	C	A	11: 62,023,164 (GRCm39)	N736K	probably damaging	Het
Tas2r121	T	C	6: 132,677,495 (GRCm39)	Y159C	probably benign	Het
Tex54	A	G	19: 8,718,462 (GRCm39)	D68G	probably benign	Het
Trank1	A	G	9: 111,196,268 (GRCm39)	I1431V	probably damaging	Het
Ttll6	T	C	11: 96,047,414 (GRCm39)	V671A	probably benign	Het
Ttn	A	T	2: 76,748,931 (GRCm39)		probably benign	Het
Uimc1	T	C	13: 55,188,389 (GRCm39)	T557A	possibly damaging	Het
Uri1	C	A	7: 37,661,974 (GRCm39)	V446L	probably benign	Het
Vpreb1b	C	T	16: 17,798,771 (GRCm39)	R86C	probably damaging	Het
Vwa8	A	G	14: 79,331,184 (GRCm39)	K1231E	probably benign	Het
Xcr1	G	A	9: 123,684,854 (GRCm39)	R303C	probably damaging	Het
Zfp619	C	A	7: 39,186,454 (GRCm39)	A828E	possibly damaging	Het
Zfp687	T	C	3: 94,915,049 (GRCm39)	S1151G	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
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
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'- GTGAACCCCTGAAAAGTAAGATC -3'
(R):5'- GACTCTCTGACAGACAATGGC -3'

Sequencing Primer
(F):5'- ACCCCTGAAAAGTAAGATCATATTTG -3'
(R):5'- TTCTCCAAGAGCATCAGGTG -3'

Posted On

2018-05-04