Mutagenetix > Incidental Mutation

Incidental Mutation 'R9450:Cpsf7'

714225

Institutional Source

Beutler Lab

Gene Symbol

Cpsf7

Ensembl Gene

ENSMUSG00000034820

Gene Name

cleavage and polyadenylation specific factor 7

Synonyms

C330017N18Rik, 5730453I16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9450 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10525244-10547735 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 10540849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038958 (fasta)

Gene Model

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

AlphaFold

Q8BTV2

Predicted Effect

probably null
Transcript: ENSMUST00000038379

SMART Domains

Protein: ENSMUSP00000038958
Gene: ENSMUSG00000034820

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 null
Transcript: ENSMUST00000038379

SMART Domains

Protein: ENSMUSP00000038958
Gene: ENSMUSG00000034820

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110 (GRCm38)		probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623 (GRCm38)		probably benign	Het
2810004N23Rik	T	C	8: 124,840,476 (GRCm38)	K229E	probably damaging	Het
4931409K22Rik	T	A	5: 24,549,449 (GRCm38)	I395F	probably benign	Het
9030624J02Rik	T	C	7: 118,752,895 (GRCm38)		probably null	Het
Abca8b	T	C	11: 109,969,104 (GRCm38)	T523A	probably damaging	Het
Adamts18	G	T	8: 113,764,310 (GRCm38)	D508E	probably benign	Het
Arap2	T	C	5: 62,698,419 (GRCm38)	E558G	probably benign	Het
Arid4a	A	T	12: 71,072,600 (GRCm38)	D331V		Het
Ash1l	A	T	3: 89,007,832 (GRCm38)	K1923M	possibly damaging	Het
Atad2b	T	A	12: 5,013,859 (GRCm38)	S947T	probably benign	Het
B4galt1	A	T	4: 40,853,804 (GRCm38)	M1K	probably null	Het
BC025446	T	A	15: 75,220,725 (GRCm38)	C98S	probably damaging	Het
Ccpg1	G	A	9: 72,997,421 (GRCm38)	S4N	unknown	Het
Cfap43	A	T	19: 47,897,871 (GRCm38)	L102M	probably benign	Het
Clic6	T	C	16: 92,530,756 (GRCm38)	I483T	possibly damaging	Het
Col6a6	A	T	9: 105,784,174 (GRCm38)	D245E	probably benign	Het
Depdc5	A	G	5: 32,934,010 (GRCm38)	D721G	probably benign	Het
Dhx29	C	T	13: 112,947,328 (GRCm38)	T639I	possibly damaging	Het
Dock7	T	C	4: 98,973,189 (GRCm38)	E1397G	unknown	Het
Dsp	C	T	13: 38,192,403 (GRCm38)	T1388M	probably damaging	Het
Fam186b	C	T	15: 99,285,544 (GRCm38)	G73D	probably damaging	Het
Ganab	A	G	19: 8,915,712 (GRCm38)	D960G	probably damaging	Het
Gm12394	G	T	4: 42,793,833 (GRCm38)	Q100K	probably benign	Het
Gria1	T	C	11: 57,309,789 (GRCm38)	V764A	probably damaging	Het
Grk3	T	C	5: 112,915,047 (GRCm38)	K645E	probably benign	Het
Hecw2	A	T	1: 53,839,029 (GRCm38)	Y1339*	probably null	Het
Hmcn2	C	A	2: 31,426,833 (GRCm38)	T3808N	probably damaging	Het
Il20rb	A	T	9: 100,473,002 (GRCm38)	N129K	possibly damaging	Het
Itgb4	T	C	11: 115,983,271 (GRCm38)	Y340H	probably damaging	Het
Itgb6	T	C	2: 60,628,028 (GRCm38)	I460M	probably benign	Het
Kat14	T	C	2: 144,400,819 (GRCm38)	I599T	possibly damaging	Het
Kif1b	A	C	4: 149,238,010 (GRCm38)	D817E	probably benign	Het
Lamb2	T	A	9: 108,480,561 (GRCm38)	C94*	probably null	Het
Larp1	T	C	11: 58,051,064 (GRCm38)	S743P	probably damaging	Het
Ldlrap1	T	C	4: 134,747,179 (GRCm38)	N267S	probably damaging	Het
Ltbp2	G	A	12: 84,791,090 (GRCm38)	P1192L	probably benign	Het
Ltf	T	C	9: 111,021,996 (GRCm38)	L92P	probably damaging	Het
Mns1	C	A	9: 72,452,608 (GRCm38)	Q347K	probably benign	Het
Myof	A	T	19: 37,960,926 (GRCm38)	F611I	probably damaging	Het
Nop56	T	C	2: 130,275,681 (GRCm38)	L76P	probably damaging	Het
Nphp1	T	C	2: 127,774,088 (GRCm38)	H114R		Het
Olfr1280	T	A	2: 111,316,053 (GRCm38)	N191K	probably benign	Het
Olfr1512	G	C	14: 52,372,653 (GRCm38)	Y133*	probably null	Het
Olfr390	C	A	11: 73,787,275 (GRCm38)	N112K	possibly damaging	Het
Park2	C	A	17: 11,838,634 (GRCm38)	H301N	possibly damaging	Het
Pcdha12	A	G	18: 37,020,939 (GRCm38)	D237G	probably damaging	Het
Pitpnm3	A	T	11: 72,061,586 (GRCm38)	M593K	possibly damaging	Het
Plxdc1	C	T	11: 97,954,855 (GRCm38)	V211I	probably damaging	Het
Prpf38a	A	T	4: 108,572,875 (GRCm38)	H143Q	probably damaging	Het
Sdk2	T	C	11: 113,806,279 (GRCm38)	T1769A	probably benign	Het
Stab1	T	C	14: 31,162,939 (GRCm38)	D153G	possibly damaging	Het
Tm7sf3	C	T	6: 146,623,681 (GRCm38)	D89N	possibly damaging	Het
Tnrc6b	T	A	15: 80,880,436 (GRCm38)	M713K	probably benign	Het
Top2a	T	C	11: 99,003,608 (GRCm38)	K966E	possibly damaging	Het
Vars2	T	C	17: 35,662,135 (GRCm38)	T421A	probably damaging	Het
Vmn1r1	A	T	1: 182,157,205 (GRCm38)	C298*	probably null	Het
Vwa3a	T	C	7: 120,804,030 (GRCm38)		probably null	Het
Vwa5b1	G	T	4: 138,588,629 (GRCm38)	Q601K	possibly damaging	Het
Zbtb46	T	C	2: 181,395,488 (GRCm38)	K454E	probably damaging	Het
Zfp426	T	C	9: 20,470,281 (GRCm38)	H470R	probably benign	Het

Other mutations in Cpsf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Cpsf7	APN	19	10,539,787 (GRCm38)	missense	probably damaging	0.98
IGL00870:Cpsf7	APN	19	10,539,650 (GRCm38)	splice site	probably null
IGL01883:Cpsf7	APN	19	10,526,023 (GRCm38)	missense	possibly damaging	0.69
IGL02406:Cpsf7	APN	19	10,531,988 (GRCm38)	missense	probably damaging	0.96
IGL02491:Cpsf7	APN	19	10,539,637 (GRCm38)	missense	possibly damaging	0.92
IGL02990:Cpsf7	APN	19	10,531,795 (GRCm38)	missense	probably benign
R0003:Cpsf7	UTSW	19	10,539,629 (GRCm38)	missense	possibly damaging	0.88
R0540:Cpsf7	UTSW	19	10,533,318 (GRCm38)	nonsense	probably null
R0633:Cpsf7	UTSW	19	10,531,782 (GRCm38)	missense	probably benign	0.09
R0662:Cpsf7	UTSW	19	10,526,008 (GRCm38)	start codon destroyed	probably null	0.77
R1309:Cpsf7	UTSW	19	10,533,467 (GRCm38)	critical splice donor site	probably null
R1817:Cpsf7	UTSW	19	10,535,439 (GRCm38)	missense	possibly damaging	0.89
R2004:Cpsf7	UTSW	19	10,540,709 (GRCm38)	missense	probably damaging	1.00
R2286:Cpsf7	UTSW	19	10,535,296 (GRCm38)	missense	probably damaging	0.99
R2417:Cpsf7	UTSW	19	10,525,968 (GRCm38)	start gained	probably benign
R4374:Cpsf7	UTSW	19	10,539,637 (GRCm38)	missense	probably damaging	1.00
R5788:Cpsf7	UTSW	19	10,540,718 (GRCm38)	missense	possibly damaging	0.88
R5801:Cpsf7	UTSW	19	10,539,632 (GRCm38)	missense	probably benign	0.02
R6823:Cpsf7	UTSW	19	10,532,884 (GRCm38)	nonsense	probably null
R7371:Cpsf7	UTSW	19	10,531,839 (GRCm38)	missense	probably benign	0.00
R7602:Cpsf7	UTSW	19	10,535,373 (GRCm38)	missense	probably damaging	0.99
R8185:Cpsf7	UTSW	19	10,536,860 (GRCm38)	nonsense	probably null
R8935:Cpsf7	UTSW	19	10,531,981 (GRCm38)	nonsense	probably null
Z1177:Cpsf7	UTSW	19	10,535,518 (GRCm38)	missense	probably null	0.83

Predicted Primers

PCR Primer
(F):5'- GAAAGAATGTGTTGTAGGCCATTG -3'
(R):5'- AGAACTTGAGGGCAGAACATTTC -3'

Sequencing Primer
(F):5'- ATGTTTCTGACAGGAAAAGACATCG -3'
(R):5'- CTTGAGGGCAGAACATTTCTATTAC -3'

Posted On

2022-06-15