Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00430:Cpsf4l'

12548

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpsf4l

Ensembl Gene

ENSMUSG00000018727

Gene Name

cleavage and polyadenylation specific factor 4-like

Synonyms

1500000C01Rik, 0610010C04Rik, D11Ertd636e

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL00430

Quality Score

Status

Chromosome

Chromosomal Location

113698172-113710017 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 113709218 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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,784,202	S17N	probably benign	Het
Atp2a1	C	T	7: 126,447,216	W72*	probably null	Het
Baz2b	C	A	2: 59,912,795	A1611S	probably benign	Het
Cep290	A	T	10: 100,508,724	I475L	probably benign	Het
Crispld2	A	T	8: 120,033,560	R408S	probably damaging	Het
Cyp3a25	A	T	5: 145,993,360	M145K	probably damaging	Het
Dexi	A	T	16: 10,542,445	D82E	probably benign	Het
Epyc	A	T	10: 97,681,147	K282N	probably benign	Het
Ercc6l2	G	T	13: 63,858,319	V588F	probably damaging	Het
Galnt14	C	T	17: 73,494,232	V532I	probably damaging	Het
Grk1	C	A	8: 13,413,128	Y383*	probably null	Het
Gtpbp1	G	T	15: 79,719,136	G609W	possibly damaging	Het
Hadha	C	T	5: 30,120,147	V682M	possibly damaging	Het
Igdcc3	A	C	9: 65,182,019	D499A	probably damaging	Het
Kcna10	T	G	3: 107,194,728	V225G	probably damaging	Het
Kcnh4	T	C	11: 100,757,654	T75A	possibly damaging	Het
Lama4	A	G	10: 39,045,704	E407G	possibly damaging	Het
Mrpl13	T	A	15: 55,540,201	K105N	probably damaging	Het
Pcdhb2	A	T	18: 37,296,463		probably null	Het
Pck2	C	T	14: 55,543,944	A209V	probably benign	Het
Plce1	A	G	19: 38,725,017	E1243G	probably damaging	Het
Plekhh2	A	T	17: 84,521,775	M25L	probably benign	Het
Rasef	G	A	4: 73,771,425	Q117*	probably null	Het
Rbm14	A	G	19: 4,811,426	V28A	probably damaging	Het
Rcan2	A	G	17: 43,836,384	T38A	probably benign	Het
Rin1	A	G	19: 5,051,376	N96S	probably benign	Het
Rrp12	A	G	19: 41,877,334		probably null	Het
Slco1a6	A	T	6: 142,101,651	C404*	probably null	Het
St6galnac3	T	C	3: 153,509,403	N38S	probably benign	Het
Top2b	T	A	14: 16,422,692	S1376R	probably benign	Het
Trip11	T	C	12: 101,886,147	I553V	probably benign	Het
Trip12	T	G	1: 84,763,861	H559P	probably damaging	Het
Uggt2	A	T	14: 119,026,429	L1063*	probably null	Het
Zmym6	T	A	4: 127,101,949	C269*	probably null	Het

Other mutations in Cpsf4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4830:Cpsf4l	UTSW	11	113709502	utr 5 prime	probably benign
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

Posted On

2012-12-06