Mutagenetix > Incidental Mutation

Incidental Mutation 'R0662:Cpsf7'

61931

Institutional Source

Beutler Lab

Gene Symbol

Cpsf7

Ensembl Gene

ENSMUSG00000034820

Gene Name

cleavage and polyadenylation specific factor 7

Synonyms

5730453I16Rik, C330017N18Rik

MMRRC Submission

038847-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0662 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

10502630-10525017 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 10503372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000038958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025570] [ENSMUST00000038379]

AlphaFold

Q8BTV2

Predicted Effect

probably benign
Transcript: ENSMUST00000025570

SMART Domains

Protein: ENSMUSP00000025570
Gene: ENSMUSG00000024668

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
Pfam:Sdh5	65	138	7.6e-27	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000038379
AA Change: M1T

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038958
Gene: ENSMUSG00000034820
AA Change: M1T

Domain	Start	End	E-Value	Type
low complexity region	51	63	N/A	INTRINSIC
RRM	83	158	7.31e-8	SMART
low complexity region	188	202	N/A	INTRINSIC
low complexity region	228	260	N/A	INTRINSIC
low complexity region	265	291	N/A	INTRINSIC
low complexity region	346	362	N/A	INTRINSIC
low complexity region	405	439	N/A	INTRINSIC
low complexity region	454	471	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.6%
20x: 91.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cleavage factor Im (CFIm) is one of six factors necessary for correct cleavage and polyadenylation of pre-mRNAs. CFIm is composed of three different subunits of 25, 59, and 68 kDa, and it functions as a heterotetramer, with a dimer of the 25 kDa subunit binding to two of the 59 or 68 kDa subunits. The protein encoded by this gene represents the 59 kDa subunit, which can interact with the splicing factor U2 snRNP Auxiliary Factor (U2AF) 65 to link the splicing and polyadenylation complexes. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,898,338 (GRCm39)	S241P	probably benign	Het
Ankrd53	G	T	6: 83,740,625 (GRCm39)	V83L	probably damaging	Het
Armcx2	G	A	X: 133,706,385 (GRCm39)	T416I	possibly damaging	Het
C4b	G	A	17: 34,949,862 (GRCm39)	R1441C	probably damaging	Het
Cacng3	T	C	7: 122,367,582 (GRCm39)	I154T	probably damaging	Het
Cand2	A	G	6: 115,764,171 (GRCm39)	D315G	probably benign	Het
Celsr2	A	T	3: 108,305,836 (GRCm39)	S2089R	probably damaging	Het
Chd9	A	C	8: 91,704,304 (GRCm39)	K247Q	probably damaging	Het
Chi3l1	A	C	1: 134,116,311 (GRCm39)	S263R	probably damaging	Het
Clec12b	A	C	6: 129,353,200 (GRCm39)	C262W	probably damaging	Het
Cul3	T	C	1: 80,249,282 (GRCm39)	D597G	probably damaging	Het
Dcaf11	T	C	14: 55,802,964 (GRCm39)	V251A	possibly damaging	Het
Dennd2b	G	T	7: 109,156,633 (GRCm39)	P39Q	probably damaging	Het
Eno2	A	T	6: 124,740,774 (GRCm39)	F218I	probably damaging	Het
Frmd6	A	T	12: 70,946,218 (GRCm39)	R549*	probably null	Het
Fyb2	G	A	4: 104,852,895 (GRCm39)	S461N	possibly damaging	Het
Gm5709	A	T	3: 59,514,164 (GRCm39)		noncoding transcript	Het
Hormad1	T	C	3: 95,482,910 (GRCm39)	I132T	probably benign	Het
Itga7	G	T	10: 128,789,400 (GRCm39)	R981L	probably damaging	Het
Itgbl1	T	A	14: 124,065,306 (GRCm39)	N153K	probably damaging	Het
Itih1	T	C	14: 30,655,317 (GRCm39)	E626G	possibly damaging	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,712,417 (GRCm39)		probably benign	Het
Kcna2	A	T	3: 107,012,717 (GRCm39)	T433S	probably benign	Het
Map4k5	A	G	12: 69,859,927 (GRCm39)	V673A	probably damaging	Het
Mmp27	T	A	9: 7,577,651 (GRCm39)	V281E	probably benign	Het
Nr2c1	A	T	10: 94,026,600 (GRCm39)	I492F	probably damaging	Het
Or14c39	A	G	7: 86,343,838 (GRCm39)	Y58C	possibly damaging	Het
Or2ag19	A	T	7: 106,443,856 (GRCm39)	I13F	probably benign	Het
Or2r3	C	T	6: 42,448,708 (GRCm39)	V135M	possibly damaging	Het
Or2y3	A	G	17: 38,393,824 (GRCm39)	I15T	probably benign	Het
Or7d10	G	C	9: 19,831,796 (GRCm39)	C97S	probably damaging	Het
Or7e170	T	C	9: 19,795,248 (GRCm39)	M118V	probably benign	Het
Or8b47	T	A	9: 38,435,322 (GRCm39)	M98K	probably damaging	Het
Pank3	T	C	11: 35,669,477 (GRCm39)	M237T	probably damaging	Het
Plekhh1	A	G	12: 79,125,767 (GRCm39)	T1268A	probably benign	Het
Ptchd4	A	G	17: 42,813,467 (GRCm39)	Y456C	probably damaging	Het
Rhcg	C	T	7: 79,249,477 (GRCm39)	V310M	probably damaging	Het
Ryr1	A	T	7: 28,799,614 (GRCm39)	D906E	probably damaging	Het
Sez6l	A	T	5: 112,621,288 (GRCm39)	L262Q	probably damaging	Het
Shprh	G	A	10: 11,062,591 (GRCm39)	V1233I	probably damaging	Het
Slc3a1	A	G	17: 85,344,635 (GRCm39)	E267G	possibly damaging	Het
Slc5a5	T	A	8: 71,336,519 (GRCm39)	T616S	probably benign	Het
Syne3	T	G	12: 104,927,769 (GRCm39)	E318A	probably benign	Het
Tecpr2	A	G	12: 110,862,662 (GRCm39)	T25A	probably benign	Het
Ubxn1	T	A	19: 8,852,561 (GRCm39)		probably null	Het
Unc5b	C	A	10: 60,608,362 (GRCm39)	R616L	possibly damaging	Het
Ush2a	A	G	1: 188,083,290 (GRCm39)	T278A	probably benign	Het
Utp14b	A	G	1: 78,642,716 (GRCm39)	T205A	probably damaging	Het
Vmn1r219	T	C	13: 23,347,623 (GRCm39)	S271P	possibly damaging	Het
Vmn2r76	C	T	7: 85,879,578 (GRCm39)	V241M	probably benign	Het
Zbtb24	G	A	10: 41,338,275 (GRCm39)	G429D	probably damaging	Het
Zdhhc2	T	C	8: 40,900,139 (GRCm39)	S68P	probably damaging	Het
Zfp719	G	A	7: 43,233,678 (GRCm39)	M32I	possibly damaging	Het
Zfp975	T	C	7: 42,311,950 (GRCm39)	N221S	probably benign	Het

Other mutations in Cpsf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Cpsf7	APN	19	10,517,151 (GRCm39)	missense	probably damaging	0.98
IGL00870:Cpsf7	APN	19	10,517,014 (GRCm39)	splice site	probably null
IGL01883:Cpsf7	APN	19	10,503,387 (GRCm39)	missense	possibly damaging	0.69
IGL02406:Cpsf7	APN	19	10,509,352 (GRCm39)	missense	probably damaging	0.96
IGL02491:Cpsf7	APN	19	10,517,001 (GRCm39)	missense	possibly damaging	0.92
IGL02990:Cpsf7	APN	19	10,509,159 (GRCm39)	missense	probably benign
R0003:Cpsf7	UTSW	19	10,516,993 (GRCm39)	missense	possibly damaging	0.88
R0540:Cpsf7	UTSW	19	10,510,682 (GRCm39)	nonsense	probably null
R0633:Cpsf7	UTSW	19	10,509,146 (GRCm39)	missense	probably benign	0.09
R1309:Cpsf7	UTSW	19	10,510,831 (GRCm39)	critical splice donor site	probably null
R1817:Cpsf7	UTSW	19	10,512,803 (GRCm39)	missense	possibly damaging	0.89
R2004:Cpsf7	UTSW	19	10,518,073 (GRCm39)	missense	probably damaging	1.00
R2286:Cpsf7	UTSW	19	10,512,660 (GRCm39)	missense	probably damaging	0.99
R2417:Cpsf7	UTSW	19	10,503,332 (GRCm39)	start gained	probably benign
R4374:Cpsf7	UTSW	19	10,517,001 (GRCm39)	missense	probably damaging	1.00
R5788:Cpsf7	UTSW	19	10,518,082 (GRCm39)	missense	possibly damaging	0.88
R5801:Cpsf7	UTSW	19	10,516,996 (GRCm39)	missense	probably benign	0.02
R6823:Cpsf7	UTSW	19	10,510,248 (GRCm39)	nonsense	probably null
R7371:Cpsf7	UTSW	19	10,509,203 (GRCm39)	missense	probably benign	0.00
R7602:Cpsf7	UTSW	19	10,512,737 (GRCm39)	missense	probably damaging	0.99
R8185:Cpsf7	UTSW	19	10,514,224 (GRCm39)	nonsense	probably null
R8935:Cpsf7	UTSW	19	10,509,345 (GRCm39)	nonsense	probably null
R9450:Cpsf7	UTSW	19	10,518,213 (GRCm39)	critical splice donor site	probably null
Z1177:Cpsf7	UTSW	19	10,512,882 (GRCm39)	missense	probably null	0.83

Predicted Primers

PCR Primer
(F):5'- ATGCTGCGTCTTGGGAGACTAGAG -3'
(R):5'- TTCATGGTACACCATTGGGAGGGG -3'

Sequencing Primer
(F):5'- GAGACTAGAGCTTGTTGACCC -3'
(R):5'- GAATGGTCAGTCGTCTTCAAAGC -3'

Posted On

2013-07-30