Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01121:Cpsf2'

52477

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpsf2

Ensembl Gene

ENSMUSG00000041781

Gene Name

cleavage and polyadenylation specific factor 2

Synonyms

100kDa, 2610024B04Rik, Cpsf

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL01121

Quality Score

Status

Chromosome

Chromosomal Location

101975988-102006424 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101988706 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 245 (E245D)

Ref Sequence

ENSEMBL: ENSMUSP00000047797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047357]

Predicted Effect

probably damaging
Transcript: ENSMUST00000047357
AA Change: E245D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047797
Gene: ENSMUSG00000041781
AA Change: E245D

Domain	Start	End	E-Value	Type
Lactamase_B	17	223	5.22e-1	SMART
Beta-Casp	243	368	1.8e-21	SMART
coiled coil region	380	418	N/A	INTRINSIC
Pfam:RMMBL	527	569	1.2e-14	PFAM
Pfam:CPSF100_C	608	779	5.7e-46	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700046A07Rik	G	A	18: 62,755,148		noncoding transcript	Het
4930432E11Rik	A	T	7: 29,574,001		noncoding transcript	Het
Alg3	T	C	16: 20,610,647	E31G	probably damaging	Het
Arhgap29	A	G	3: 122,009,863	E764G	probably damaging	Het
Atp5j2	C	A	5: 145,184,568	V68L	probably benign	Het
Birc6	T	A	17: 74,631,038	I2645K	probably benign	Het
Capn11	A	G	17: 45,639,132	S369P	probably benign	Het
Car4	A	T	11: 84,964,346		probably null	Het
Ccdc185	C	T	1: 182,748,657	V156I	probably benign	Het
Dnah11	T	C	12: 118,050,695	D2019G	probably benign	Het
Dscc1	A	G	15: 55,082,325		probably benign	Het
Dzip3	T	C	16: 48,944,881	D490G	probably benign	Het
E2f8	G	A	7: 48,867,821	Q745*	probably null	Het
Fat3	T	A	9: 15,998,401	T2102S	probably benign	Het
Fgf7	C	T	2: 126,088,232		probably benign	Het
Fstl4	T	C	11: 52,814,637	F47L	probably benign	Het
Gm15097	A	T	X: 149,804,328	R129S	possibly damaging	Het
Gm4297	C	T	X: 24,552,615	D200N	probably benign	Het
Itgb5	G	T	16: 33,919,989	D490Y	probably benign	Het
Kansl1	A	G	11: 104,335,596	S912P	probably benign	Het
Kcnq3	A	T	15: 66,005,977		probably benign	Het
Kctd6	A	G	14: 8,222,656	H166R	possibly damaging	Het
Kel	T	C	6: 41,702,409	D140G	probably benign	Het
Lrif1	C	A	3: 106,735,664	S177*	probably null	Het
Lrp1	A	T	10: 127,583,853	C962*	probably null	Het
Lypd5	A	T	7: 24,351,551	Y29F	probably benign	Het
Mmrn1	A	G	6: 60,975,944	D403G	possibly damaging	Het
Nhsl1	T	G	10: 18,511,710	V244G	probably damaging	Het
Olfr781	T	C	10: 129,332,935	I18T	probably benign	Het
Ptprd	A	T	4: 75,954,201		probably benign	Het
Rcan2	A	T	17: 44,017,884	I69L	probably damaging	Het
Rprd2	A	G	3: 95,776,550	L373P	probably damaging	Het
Slc10a4	T	C	5: 73,007,586	C174R	probably damaging	Het
Tas2r134	C	T	2: 51,627,989	T160I	probably damaging	Het
Tbc1d19	T	A	5: 53,897,062	L464*	probably null	Het
Tmem45a2	C	T	16: 57,040,790	D225N	possibly damaging	Het
Unc79	G	A	12: 103,165,631	C2139Y	probably damaging	Het
Vmn2r101	G	T	17: 19,589,674	G241C	probably damaging	Het
Vmn2r91	T	C	17: 18,136,504	V811A	possibly damaging	Het
Wdr11	T	C	7: 129,628,022	Y844H	probably benign	Het
Wdr70	T	C	15: 7,873,174	K656E	possibly damaging	Het
Zfp579	C	A	7: 4,993,247	C555F	possibly damaging	Het

Other mutations in Cpsf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Cpsf2	APN	12	101983466	missense	probably damaging	1.00
IGL01114:Cpsf2	APN	12	101989839	missense	possibly damaging	0.93
IGL01377:Cpsf2	APN	12	101987381	splice site	probably null
IGL01465:Cpsf2	APN	12	101997333	missense	probably damaging	1.00
IGL02861:Cpsf2	APN	12	101999566	missense	probably benign	0.00
R0469:Cpsf2	UTSW	12	101988786	missense	probably damaging	1.00
R0504:Cpsf2	UTSW	12	101990003	missense	probably damaging	1.00
R0510:Cpsf2	UTSW	12	101988786	missense	probably damaging	1.00
R0626:Cpsf2	UTSW	12	101985231	missense	probably benign	0.09
R0697:Cpsf2	UTSW	12	101983184	missense	probably benign	0.34
R0837:Cpsf2	UTSW	12	101997242	splice site	probably benign
R1475:Cpsf2	UTSW	12	101985236	missense	probably damaging	1.00
R1709:Cpsf2	UTSW	12	101999542	missense	probably damaging	1.00
R1974:Cpsf2	UTSW	12	101990047	missense	probably benign	0.33
R1996:Cpsf2	UTSW	12	101998608	missense	probably benign	0.18
R2063:Cpsf2	UTSW	12	101983463	missense	probably damaging	1.00
R2164:Cpsf2	UTSW	12	101985335	missense	probably damaging	1.00
R2228:Cpsf2	UTSW	12	101989829	missense	probably benign	0.00
R3082:Cpsf2	UTSW	12	101988810	missense	probably damaging	0.99
R3732:Cpsf2	UTSW	12	101987308	missense	probably damaging	0.99
R3732:Cpsf2	UTSW	12	101987308	missense	probably damaging	0.99
R3733:Cpsf2	UTSW	12	101987308	missense	probably damaging	0.99
R4627:Cpsf2	UTSW	12	101989895	missense	probably benign	0.18
R4665:Cpsf2	UTSW	12	101983207	missense	probably damaging	1.00
R4666:Cpsf2	UTSW	12	101983207	missense	probably damaging	1.00
R4765:Cpsf2	UTSW	12	101997440	missense	probably damaging	1.00
R4777:Cpsf2	UTSW	12	101996832	missense	probably damaging	0.99
R4847:Cpsf2	UTSW	12	101997302	missense	probably benign	0.18
R4923:Cpsf2	UTSW	12	101981984	missense	probably benign
R4975:Cpsf2	UTSW	12	101983493	missense	probably damaging	1.00
R5239:Cpsf2	UTSW	12	101987273	nonsense	probably null
R5440:Cpsf2	UTSW	12	101996879	missense	probably benign
R5601:Cpsf2	UTSW	12	101985355	splice site	probably null
R5603:Cpsf2	UTSW	12	101998631	missense	probably benign	0.02
R5841:Cpsf2	UTSW	12	101985238	missense	probably damaging	0.99
R6153:Cpsf2	UTSW	12	101999360	splice site	probably null
R6663:Cpsf2	UTSW	12	101999593	missense	probably damaging	1.00
R7451:Cpsf2	UTSW	12	102000792	missense	possibly damaging	0.52
R8357:Cpsf2	UTSW	12	102002670	missense	probably damaging	0.99
R8457:Cpsf2	UTSW	12	102002670	missense	probably damaging	0.99
V8831:Cpsf2	UTSW	12	102003141	missense	probably damaging	1.00

Posted On

2013-06-21