Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02491:Cpsf7'

295630

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpsf7

Ensembl Gene

ENSMUSG00000034820

Gene Name

cleavage and polyadenylation specific factor 7

Synonyms

5730453I16Rik, C330017N18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02491

Quality Score

Status

Chromosome

Chromosomal Location

10502630-10525017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10517001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 368 (I368V)

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: I368V

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038958
Gene: ENSMUSG00000034820
AA Change: I368V

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

Coding Region Coverage

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,067,794 (GRCm39)		probably benign	Het
Acacb	T	A	5: 114,330,166 (GRCm39)	I443N	probably damaging	Het
C1qtnf3	A	T	15: 10,972,067 (GRCm39)	I118F	possibly damaging	Het
Carmil3	C	T	14: 55,741,974 (GRCm39)	A1148V	probably benign	Het
Ccdc62	A	T	5: 124,099,378 (GRCm39)	S677C	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col11a2	C	A	17: 34,283,181 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,428,050 (GRCm39)	S2934P	probably benign	Het
Csmd3	A	G	15: 47,777,511 (GRCm39)		probably benign	Het
Cubn	A	G	2: 13,326,039 (GRCm39)	Y2709H	probably damaging	Het
Cyp2d12	T	A	15: 82,442,682 (GRCm39)	L375Q	possibly damaging	Het
Etv4	A	T	11: 101,674,791 (GRCm39)		probably null	Het
Exph5	T	A	9: 53,286,343 (GRCm39)	D1141E	possibly damaging	Het
Fbxo16	T	A	14: 65,558,736 (GRCm39)	H298Q	probably benign	Het
Fbxw21	T	A	9: 108,972,887 (GRCm39)	Y349F	probably benign	Het
Foxs1	G	A	2: 152,774,721 (GRCm39)	R111C	probably damaging	Het
Galnt15	T	A	14: 31,778,273 (GRCm39)	L436Q	probably damaging	Het
Gbf1	T	C	19: 46,250,979 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,577 (GRCm38)	C29*	probably null	Het
Hcn1	A	G	13: 117,946,576 (GRCm39)	D317G	unknown	Het
Itgam	A	G	7: 127,715,190 (GRCm39)	N877D	possibly damaging	Het
Kcnma1	T	C	14: 23,361,757 (GRCm39)	R1047G	probably damaging	Het
Klhdc3	T	C	17: 46,988,226 (GRCm39)	R180G	possibly damaging	Het
Lpcat2	T	C	8: 93,600,879 (GRCm39)	V241A	probably damaging	Het
Mnat1	A	G	12: 73,170,682 (GRCm39)	N24S	probably null	Het
Mprip	A	G	11: 59,660,857 (GRCm39)	T967A	probably benign	Het
Mtf1	T	C	4: 124,732,372 (GRCm39)	F477L	probably benign	Het
Naaladl1	A	G	19: 6,159,748 (GRCm39)	E393G	possibly damaging	Het
Or10ak7	A	T	4: 118,791,358 (GRCm39)	L229H	probably damaging	Het
Or2at1	A	G	7: 99,416,540 (GRCm39)	E57G	possibly damaging	Het
Or5e1	A	G	7: 108,354,321 (GRCm39)	K86R	probably damaging	Het
Pcdhb6	A	T	18: 37,468,735 (GRCm39)	D552V	probably damaging	Het
Pglyrp3	C	T	3: 91,921,944 (GRCm39)	S4F	possibly damaging	Het
Pramel13	A	T	4: 144,121,322 (GRCm39)	M234K	probably damaging	Het
Prss27	A	T	17: 24,263,229 (GRCm39)		probably benign	Het
Slc5a9	A	G	4: 111,753,549 (GRCm39)	S51P	probably damaging	Het
Slc6a4	A	G	11: 76,918,034 (GRCm39)	Y592C	probably damaging	Het
Slc7a13	T	A	4: 19,841,404 (GRCm39)	V417D	probably damaging	Het
Spring1	T	C	5: 118,397,160 (GRCm39)	Y130H	probably benign	Het
Syne2	A	G	12: 76,118,953 (GRCm39)	T5857A	probably benign	Het
Thap1	A	C	8: 26,650,885 (GRCm39)	S52R	probably damaging	Het
Thsd4	T	C	9: 59,907,301 (GRCm39)	N158S	probably damaging	Het
Tmem147	A	T	7: 30,427,626 (GRCm39)		probably benign	Het
Trdmt1	G	A	2: 13,521,483 (GRCm39)	A311V	probably benign	Het
U2surp	T	A	9: 95,372,273 (GRCm39)	R296S	probably damaging	Het
Upf2	A	G	2: 6,030,975 (GRCm39)	D805G	unknown	Het
Usp34	T	A	11: 23,382,630 (GRCm39)	H2057Q	probably damaging	Het
Vmn2r110	T	A	17: 20,816,400 (GRCm39)	D41V	probably damaging	Het
Vmn2r16	T	A	5: 109,487,703 (GRCm39)	L192*	probably null	Het
Vnn3	T	A	10: 23,741,816 (GRCm39)	S374T	probably benign	Het
Wdr62	A	C	7: 29,942,184 (GRCm39)	D1089E	probably benign	Het
Xdh	T	A	17: 74,193,459 (GRCm39)	D1279V	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp518b	A	G	5: 38,831,123 (GRCm39)	I294T	possibly damaging	Het
Zfp983	G	A	17: 21,876,528 (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
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
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

Posted On

2015-04-16