Mutagenetix > Incidental Mutation

Incidental Mutation 'R6663:Cpsf2'

526880

Institutional Source

Beutler Lab

Gene Symbol

Cpsf2

Ensembl Gene

ENSMUSG00000041781

Gene Name

cleavage and polyadenylation specific factor 2

Synonyms

100kDa, 2610024B04Rik, Cpsf

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101975988-102006424 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101999593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 606 (Y606H)

Ref Sequence

ENSEMBL: ENSMUSP00000047797 (fasta)

Gene Model

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

AlphaFold

O35218

Predicted Effect

probably damaging
Transcript: ENSMUST00000047357
AA Change: Y606H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047797
Gene: ENSMUSG00000041781
AA Change: Y606H

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

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	G	5: 90,264,064	S1314P	probably damaging	Het
Btbd3	T	A	2: 138,279,083	I59K	probably benign	Het
Clcn2	A	G	16: 20,703,245	*865R	probably null	Het
Col22a1	T	C	15: 71,820,059	Q749R	unknown	Het
Csn1s1	T	C	5: 87,675,740	V154A	probably benign	Het
Cux1	T	A	5: 136,485,847	E23V	probably damaging	Het
Cyp2j9	C	A	4: 96,579,442	W269L	probably benign	Het
Dbf4	T	C	5: 8,403,184	M273V	probably benign	Het
Dnhd1	A	G	7: 105,685,692		probably null	Het
Fezf1	A	G	6: 23,247,528	S183P	probably damaging	Het
Irx2	A	G	13: 72,629,129	Y23C	probably damaging	Het
Itga1	A	T	13: 114,974,105	N983K	probably benign	Het
Kifc1	A	G	17: 33,881,456		probably benign	Het
Lrrc14b	T	C	13: 74,361,361	N309S	probably damaging	Het
Lyst	A	T	13: 13,664,116		probably null	Het
Map1b	T	C	13: 99,430,022	T2064A	unknown	Het
Mark3	T	A	12: 111,575,083	N11K	probably benign	Het
Med6	T	A	12: 81,581,875	D80V	possibly damaging	Het
Mfhas1	A	G	8: 35,589,118	E249G	probably damaging	Het
Mroh2b	A	G	15: 4,947,935	I1256M	probably benign	Het
Nkx2-9	G	T	12: 56,611,938	R164S	probably benign	Het
Olfr1181	T	A	2: 88,423,350	N225I	probably benign	Het
Phf10	T	C	17: 14,959,512	D33G	probably null	Het
Plekha5	A	G	6: 140,577,290	M719V	probably damaging	Het
Pln	A	G	10: 53,343,696		probably benign	Het
Prg4	G	A	1: 150,455,101		probably benign	Het
Slc35b3	A	G	13: 38,954,136	L99P	probably damaging	Het
Tbccd1	AT	ATGT	16: 22,834,028		probably null	Het
Ube2j1	C	T	4: 33,045,198	S157L	probably damaging	Het
Zfp462	A	G	4: 55,008,933	T300A	possibly damaging	Het
Zfp668	G	A	7: 127,867,769	R212C	probably damaging	Het
Zufsp	A	G	10: 33,949,435	M17T	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
IGL01121:Cpsf2	APN	12	101988706	missense	probably damaging	1.00
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
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
R9123:Cpsf2	UTSW	12	101997296	missense	probably damaging	0.96
R9433:Cpsf2	UTSW	12	101981993	missense	probably damaging	1.00
V8831:Cpsf2	UTSW	12	102003141	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGAGCCAGAGTTACTTACATAGAC -3'
(R):5'- TGCACACTAGCACAGGAGTAAG -3'

Sequencing Primer
(F):5'- TTACATAGACTATGAAGGACGCTCCG -3'
(R):5'- CACTAGCACAGGAGTAAGTGTGAG -3'

Posted On

2018-07-23