Mutagenetix > Incidental Mutation

Incidental Mutation 'R1817:Cpsf7'

204549

Institutional Source

Beutler Lab

Gene Symbol

Cpsf7

Ensembl Gene

ENSMUSG00000034820

Gene Name

cleavage and polyadenylation specific factor 7

Synonyms

5730453I16Rik, C330017N18Rik

MMRRC Submission

039845-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10502630-10525017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10512803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 296 (F296L)

Ref Sequence

ENSEMBL: ENSMUSP00000038958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038379] [ENSMUST00000123788] [ENSMUST00000145210]

AlphaFold

Q8BTV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038379
AA Change: F296L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038958
Gene: ENSMUSG00000034820
AA Change: F296L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123788

SMART Domains

Protein: ENSMUSP00000119596
Gene: ENSMUSG00000024667

Domain	Start	End	E-Value	Type
Pfam:Transmemb_17	15	123	9.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145210

SMART Domains

Protein: ENSMUSP00000123397
Gene: ENSMUSG00000024667

Domain	Start	End	E-Value	Type
Pfam:Transmemb_17	1	69	2.8e-21	PFAM

Meta Mutation Damage Score

0.0895

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (90/95)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,110,144 (GRCm39)	S600T	probably benign	Het
Acly	T	A	11: 100,386,717 (GRCm39)	Q615L	probably benign	Het
Adgrf1	C	A	17: 43,620,924 (GRCm39)	T387K	probably benign	Het
Afg3l1	G	T	8: 124,228,670 (GRCm39)	K745N	probably damaging	Het
Armc8	T	C	9: 99,418,312 (GRCm39)	T39A	possibly damaging	Het
Atm	C	A	9: 53,403,533 (GRCm39)		probably benign	Het
Babam2	A	G	5: 32,214,890 (GRCm39)	T324A	probably damaging	Het
Btd	C	A	14: 31,384,246 (GRCm39)	D77E	possibly damaging	Het
Cadm1	T	A	9: 47,740,668 (GRCm39)		probably benign	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccni	G	T	5: 93,335,967 (GRCm39)	T144K	possibly damaging	Het
Ceacam23	C	T	7: 17,607,255 (GRCm39)		noncoding transcript	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Cgas	A	G	9: 78,341,593 (GRCm39)		probably null	Het
Cyfip1	C	A	7: 55,523,196 (GRCm39)	N70K	possibly damaging	Het
Cyp4a12b	A	G	4: 115,271,259 (GRCm39)		probably benign	Het
Ddx20	A	T	3: 105,585,896 (GRCm39)	Y816*	probably null	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Dgat1	T	A	15: 76,386,703 (GRCm39)	M445L	probably damaging	Het
Dnah5	T	A	15: 28,246,546 (GRCm39)	L628*	probably null	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dnmt1	T	C	9: 20,838,422 (GRCm39)	T215A	probably benign	Het
Dsg4	C	T	18: 20,604,302 (GRCm39)	T923M	probably damaging	Het
Enox1	A	G	14: 77,852,915 (GRCm39)	I394V	possibly damaging	Het
Esrp2	A	T	8: 106,861,250 (GRCm39)	M183K	probably damaging	Het
Fam171a1	C	T	2: 3,179,410 (GRCm39)	P79S	probably benign	Het
Fga	A	G	3: 82,939,082 (GRCm39)	T486A	probably benign	Het
Fkbp10	G	T	11: 100,306,715 (GRCm39)	A36S	probably benign	Het
Fnip1	A	G	11: 54,393,279 (GRCm39)	T572A	probably benign	Het
Fxn	A	C	19: 24,257,765 (GRCm39)		probably null	Het
Gaa	C	T	11: 119,175,324 (GRCm39)	Q901*	probably null	Het
Gabrg1	A	G	5: 70,911,594 (GRCm39)	M344T	probably benign	Het
Galnt7	C	T	8: 57,991,212 (GRCm39)	V433M	probably damaging	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Hydin	A	C	8: 111,259,459 (GRCm39)	D2477A	probably benign	Het
Igsf6	T	C	7: 120,670,031 (GRCm39)	Y37C	probably damaging	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Kif3a	T	C	11: 53,489,561 (GRCm39)	Y138H	probably damaging	Het
Klra17	A	G	6: 129,845,681 (GRCm39)		probably null	Het
Lcorl	A	T	5: 45,952,688 (GRCm39)	I55N	probably damaging	Het
Lrrc49	A	G	9: 60,510,059 (GRCm39)	S398P	possibly damaging	Het
Ltv1	A	G	10: 13,055,018 (GRCm39)	L384S	probably damaging	Het
Mageb3	A	T	2: 121,784,918 (GRCm39)	Y261*	probably null	Het
Mical3	T	G	6: 121,019,196 (GRCm39)	T9P	probably benign	Het
Myrip	C	T	9: 120,217,228 (GRCm39)	S49L	probably damaging	Het
Nrap	T	C	19: 56,372,487 (GRCm39)		probably benign	Het
Or2m12	T	C	16: 19,104,627 (GRCm39)	N289D	probably damaging	Het
Or4k5	A	G	14: 50,385,728 (GRCm39)	V201A	probably benign	Het
Otoa	A	T	7: 120,759,753 (GRCm39)		probably benign	Het
Pals2	T	G	6: 50,140,411 (GRCm39)	F144V	probably benign	Het
Parp11	T	A	6: 127,467,008 (GRCm39)	I133N	probably damaging	Het
Pcnx1	A	G	12: 81,965,416 (GRCm39)	T528A	probably benign	Het
Pde4c	A	G	8: 71,179,638 (GRCm39)	H63R	probably benign	Het
Pdpk1	T	C	17: 24,329,878 (GRCm39)	K53E	probably damaging	Het
Pdzd7	A	T	19: 45,024,615 (GRCm39)	M468K	probably damaging	Het
Perm1	C	A	4: 156,303,061 (GRCm39)	P535Q	possibly damaging	Het
Pgap1	C	A	1: 54,575,128 (GRCm39)	A265S	probably benign	Het
Pik3c2a	A	T	7: 115,975,747 (GRCm39)		probably null	Het
Plxnd1	T	C	6: 115,957,562 (GRCm39)	T491A	possibly damaging	Het
Pms1	A	T	1: 53,246,128 (GRCm39)	D470E	probably benign	Het
Prf1	C	A	10: 61,138,762 (GRCm39)	T240N	probably damaging	Het
Prune2	A	G	19: 17,099,445 (GRCm39)	T1650A	probably benign	Het
Ptprf	A	G	4: 118,080,462 (GRCm39)	L1264P	probably benign	Het
Ptprs	A	G	17: 56,726,527 (GRCm39)	S948P	probably damaging	Het
Rapgef1	T	C	2: 29,576,268 (GRCm39)	V117A	probably damaging	Het
Rnf123	A	G	9: 107,940,125 (GRCm39)	V756A	probably benign	Het
Sez6l2	A	G	7: 126,566,291 (GRCm39)	E741G	probably damaging	Het
Shc3	A	T	13: 51,626,888 (GRCm39)	I125K	possibly damaging	Het
Smr3a	A	T	5: 88,155,917 (GRCm39)		probably benign	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
St6gal1	A	T	16: 23,140,083 (GRCm39)	K85*	probably null	Het
Taf1b	T	G	12: 24,597,121 (GRCm39)	D353E	possibly damaging	Het
Tcp10b	C	T	17: 13,286,590 (GRCm39)	P180S	possibly damaging	Het
Tlr9	A	T	9: 106,102,142 (GRCm39)	M478L	probably benign	Het
Tpr	A	T	1: 150,295,654 (GRCm39)	E892D	probably damaging	Het
Trio	C	T	15: 27,742,581 (GRCm39)	W22*	probably null	Het
Usp14	A	G	18: 10,024,673 (GRCm39)	V8A	probably damaging	Het
Vmn2r19	A	T	6: 123,307,011 (GRCm39)	K506N	possibly damaging	Het
Vmn2r45	T	A	7: 8,475,372 (GRCm39)	N552I	probably damaging	Het
Vmn2r56	A	T	7: 12,449,542 (GRCm39)	M232K	probably benign	Het
Vps13b	T	A	15: 35,910,788 (GRCm39)	F3517L	possibly damaging	Het
Yif1a	C	T	19: 5,142,333 (GRCm39)	R247*	probably null	Het
Zbtb5	A	G	4: 44,993,767 (GRCm39)	V539A	probably benign	Het
Zfp180	G	A	7: 23,804,652 (GRCm39)	R357Q	probably damaging	Het
Zfp536	A	G	7: 37,268,042 (GRCm39)	L458P	probably damaging	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp970	C	T	2: 177,167,976 (GRCm39)	H517Y	probably damaging	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	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
R0662:Cpsf7	UTSW	19	10,503,372 (GRCm39)	start codon destroyed	probably null	0.77
R1309:Cpsf7	UTSW	19	10,510,831 (GRCm39)	critical splice donor site	probably null
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'- GCGTGTTGCCCTACTTTAAC -3'
(R):5'- GGCTGGTCTACATAGTGAGAC -3'

Sequencing Primer
(F):5'- TCAGCCCTTCCCCTAATGG -3'
(R):5'- GGTCTACATAGTGAGACCTTGTCAC -3'

Posted On

2014-06-23