Mutagenetix > Incidental Mutation

Incidental Mutation 'R4830:Cpsf4l'

372754

Institutional Source

Beutler Lab

Gene Symbol

Cpsf4l

Ensembl Gene

ENSMUSG00000018727

Gene Name

cleavage and polyadenylation specific factor 4-like

Synonyms

1500000C01Rik, 0610010C04Rik, D11Ertd636e

MMRRC Submission

042446-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4830 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

113698172-113710017 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

G to T at 113709502 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018871] [ENSMUST00000100248] [ENSMUST00000106617] [ENSMUST00000173655]

AlphaFold

E9Q2N0

Predicted Effect

probably benign
Transcript: ENSMUST00000018871

SMART Domains

Protein: ENSMUSP00000018871
Gene: ENSMUSG00000018727

Domain	Start	End	E-Value	Type
ZnF_C3H1	10	36	1.1e-2	SMART
ZnF_C3H1	38	64	4.64e-1	SMART
ZnF_C3H1	68	93	2.34e0	SMART
ZnF_C3H1	94	117	2.4e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100248

SMART Domains

Protein: ENSMUSP00000097819
Gene: ENSMUSG00000018727

Domain	Start	End	E-Value	Type
low complexity region	62	74	N/A	INTRINSIC
ZnF_C3H1	89	114	3.38e-1	SMART
ZnF_C3H1	115	141	1.1e-2	SMART
ZnF_C3H1	143	169	4.64e-1	SMART
ZnF_C3H1	173	197	1.36e-2	SMART
ZnF_C3H1	198	221	5.21e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106617

SMART Domains

Protein: ENSMUSP00000102228
Gene: ENSMUSG00000018727

Domain	Start	End	E-Value	Type
ZnF_C3H1	10	36	1.1e-2	SMART
ZnF_C3H1	38	64	4.64e-1	SMART
ZnF_C3H1	68	93	2.34e0	SMART
ZnF_C3H1	94	117	5.21e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151396

Predicted Effect

probably benign
Transcript: ENSMUST00000173655

SMART Domains

Protein: ENSMUSP00000133451
Gene: ENSMUSG00000018727

Domain	Start	End	E-Value	Type
ZnF_C3H1	35	61	1.33e-1	SMART
ZnF_C3H1	62	88	1.1e-2	SMART
ZnF_C3H1	90	116	4.64e-1	SMART
ZnF_C3H1	120	145	2.34e0	SMART
ZnF_C3H1	146	169	5.21e-1	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	C	A	3: 121,760,284	G643V	probably damaging	Het
Adamtsl1	A	G	4: 86,356,382	E1225G	probably damaging	Het
Agbl5	G	A	5: 30,890,715	R111H	probably damaging	Het
Ankle2	A	C	5: 110,242,013	K446Q	probably damaging	Het
Boc	A	C	16: 44,490,157	M800R	probably damaging	Het
Ccnt1	A	T	15: 98,543,451	N645K	probably damaging	Het
Cd93	G	A	2: 148,443,379	Q16*	probably null	Het
Cuzd1	T	A	7: 131,318,054	D111V	probably damaging	Het
Dab2	T	C	15: 6,427,527	C232R	probably benign	Het
Dmpk	A	T	7: 19,087,528	Y237F	probably damaging	Het
Dnah6	T	A	6: 73,044,762	T3526S	possibly damaging	Het
Dock2	T	C	11: 34,273,767		probably null	Het
Dsp	G	A	13: 38,192,864	V1542I	probably benign	Het
Dst	T	A	1: 34,198,505		probably null	Het
Esd	T	C	14: 74,741,160	L54S	probably damaging	Het
Exd1	C	T	2: 119,520,326	A485T	probably benign	Het
Gm3604	A	T	13: 62,369,043	N500K	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Grhl2	T	A	15: 37,335,659		probably null	Het
Gsto1	C	T	19: 47,864,391	R222C	probably benign	Het
H2afy2	C	T	10: 61,739,353	D355N	possibly damaging	Het
Inpp4a	T	A	1: 37,371,780	M343K	probably damaging	Het
Itpripl2	T	C	7: 118,491,057	Q93R	probably benign	Het
Jakmip2	G	A	18: 43,567,143	T450I	probably benign	Het
Kdm6b	A	T	11: 69,403,794	I1186N	unknown	Het
Kif1a	T	C	1: 93,021,209		probably null	Het
Klhl20	T	C	1: 161,098,376	K434R	probably benign	Het
Lemd3	T	C	10: 120,931,948	D697G	probably damaging	Het
Lipo1	A	G	19: 33,776,587	S383P	probably damaging	Het
Ltn1	C	A	16: 87,379,694	K1741N	probably damaging	Het
Lvrn	A	T	18: 46,905,351	T991S	probably damaging	Het
Mast3	C	A	8: 70,788,915	R151L	possibly damaging	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Myoz1	T	C	14: 20,655,309	K14E	probably damaging	Het
Neb	G	T	2: 52,192,520	Q5450K	probably damaging	Het
Nedd1	T	A	10: 92,686,258	N639I	probably damaging	Het
Nlrp4e	A	T	7: 23,336,740	N673Y	probably benign	Het
Nop53	C	T	7: 15,942,204	R190Q	probably damaging	Het
Notch4	T	C	17: 34,570,118	Y468H	probably damaging	Het
Obscn	T	C	11: 59,067,607	T3507A	probably damaging	Het
Olfr724	T	C	14: 49,960,224	N283D	probably damaging	Het
Opn5	T	C	17: 42,611,296	H5R	probably benign	Het
Patl1	T	C	19: 11,925,151	M349T	probably benign	Het
Phactr3	A	G	2: 178,284,018	N362S	probably damaging	Het
Pirb	C	T	7: 3,717,603	G299S	probably benign	Het
Rapgef5	G	A	12: 117,756,074	R579Q	probably damaging	Het
Rgl1	T	C	1: 152,554,330	D234G	probably benign	Het
Serpinb3a	C	T	1: 107,048,586	E122K	probably benign	Het
Slc22a15	T	C	3: 101,875,603		probably benign	Het
Slc25a12	A	T	2: 71,296,805	V344E	probably damaging	Het
Slc43a2	T	C	11: 75,543,293	L99P	probably damaging	Het
Smim27	G	T	4: 40,269,719		probably null	Het
Smtn	A	G	11: 3,520,736		probably benign	Het
Szt2	A	T	4: 118,369,248	Y3001N	unknown	Het
Tgfbr3	G	T	5: 107,109,719	P825T	probably damaging	Het
Tnpo3	T	C	6: 29,568,938	T472A	probably benign	Het
Trf	T	A	9: 103,227,915	D66V	probably damaging	Het
Vmn1r124	A	G	7: 21,259,699	C307R	probably damaging	Het
Vps13b	T	A	15: 35,452,224	F656Y	possibly damaging	Het
Zic1	G	T	9: 91,362,531	S358R	probably damaging	Het

Other mutations in Cpsf4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Cpsf4l	APN	11	113709218	intron	probably benign
IGL02132:Cpsf4l	APN	11	113699859	missense	possibly damaging	0.84
IGL02427:Cpsf4l	APN	11	113709498	utr 5 prime	probably benign
R0790:Cpsf4l	UTSW	11	113706408	splice site	probably benign
R1700:Cpsf4l	UTSW	11	113702075	missense	probably benign	0.17
R1909:Cpsf4l	UTSW	11	113703378	splice site	probably null
R3522:Cpsf4l	UTSW	11	113702493	missense	probably damaging	1.00
R6006:Cpsf4l	UTSW	11	113699927	missense	probably benign	0.23
R6229:Cpsf4l	UTSW	11	113708854	missense	possibly damaging	0.89
R6593:Cpsf4l	UTSW	11	113709366	intron	probably benign
R7107:Cpsf4l	UTSW	11	113702489	missense	possibly damaging	0.55
R7373:Cpsf4l	UTSW	11	113699831	splice site	probably null
R8517:Cpsf4l	UTSW	11	113708825	missense	probably benign	0.02
R8733:Cpsf4l	UTSW	11	113709453	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GGAAGTCTGCCTTTCTATCCCG -3'
(R):5'- TCAGCCAGAAAGTCACGTG -3'

Sequencing Primer
(F):5'- TCTATCCCGGGCAGTGAATAC -3'
(R):5'- GAAAGTCACGTGCAGTCACCTG -3'

Posted On

2016-03-01