Mutagenetix > Incidental Mutation

Incidental Mutation 'R7350:Cstf3'

570479

Institutional Source

Beutler Lab

Gene Symbol

Cstf3

Ensembl Gene

ENSMUSG00000027176

Gene Name

cleavage stimulation factor, 3' pre-RNA, subunit 3

Synonyms

4732468G05Rik

MMRRC Submission

045436-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R7350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104420868-104495774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104439301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 38 (L38P)

Ref Sequence

ENSEMBL: ENSMUSP00000028599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028599]

AlphaFold

Q99LI7

PDB Structure

Crystal Structure of the HAT-C domain of murine CstF-77 [X-RAY DIFFRACTION]
Crystal structure of HAT domain of murine CstF-77 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028599
AA Change: L38P

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

SMART Domains

Protein: ENSMUSP00000028599
Gene: ENSMUSG00000027176
AA Change: L38P

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
HAT	45	77	4.67e-8	SMART
HAT	79	110	5.04e-4	SMART
HAT	117	152	1.38e-1	SMART
HAT	163	196	4.39e-4	SMART
HAT	229	261	1.19e0	SMART
HAT	271	303	9.12e0	SMART
HAT	319	352	2.73e0	SMART
HAT	354	387	7.31e-1	SMART
HAT	424	456	2.37e0	SMART
HAT	458	494	1.46e0	SMART
low complexity region	597	619	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	T	C	7: 132,476,578 (GRCm39)	F106S	probably damaging	Het
Acsf3	A	G	8: 123,512,685 (GRCm39)	T369A	probably benign	Het
Adgrf5	G	A	17: 43,739,335 (GRCm39)		probably null	Het
Aff1	T	A	5: 103,994,958 (GRCm39)	I1052K	probably benign	Het
Akap8	T	C	17: 32,535,549 (GRCm39)	D155G	possibly damaging	Het
Alg10b	A	T	15: 90,111,653 (GRCm39)	M166L	probably benign	Het
Allc	T	A	12: 28,613,408 (GRCm39)	Q178L	possibly damaging	Het
Angptl4	C	A	17: 33,996,084 (GRCm39)	L297F	probably damaging	Het
Arfgap1	A	G	2: 180,612,869 (GRCm39)	K8E	possibly damaging	Het
Bckdhb	T	A	9: 83,892,379 (GRCm39)	V270E	possibly damaging	Het
Cbx3	T	C	6: 51,452,355 (GRCm39)		probably null	Het
Cd44	G	T	2: 102,664,607 (GRCm39)	N531K	probably benign	Het
Cdh23	A	T	10: 60,246,689 (GRCm39)	D916E	probably damaging	Het
Cr2	A	G	1: 194,837,594 (GRCm39)	V792A	probably benign	Het
Cyp2a5	A	G	7: 26,536,208 (GRCm39)	E151G	probably benign	Het
Dbr1	T	C	9: 99,464,602 (GRCm39)	F127S		Het
Ddit4	A	T	10: 59,787,317 (GRCm39)	D6E	probably damaging	Het
Disc1	G	C	8: 125,891,841 (GRCm39)	R631S	probably damaging	Het
Dnah5	T	A	15: 28,235,965 (GRCm39)		probably null	Het
Dnah9	T	C	11: 65,971,404 (GRCm39)	K1595E	probably damaging	Het
Dnmbp	T	C	19: 43,889,944 (GRCm39)	R608G	probably damaging	Het
Efcab5	G	C	11: 77,028,387 (GRCm39)	P315A	probably benign	Het
Eif4a2	A	G	16: 22,932,012 (GRCm39)	Y392C	possibly damaging	Het
F5	G	T	1: 164,020,277 (GRCm39)	K917N	probably benign	Het
Fig4	T	C	10: 41,127,752 (GRCm39)	M571V	probably benign	Het
Flot2	T	A	11: 77,948,802 (GRCm39)	I259N	probably damaging	Het
Gm8122	C	A	14: 43,088,058 (GRCm39)		probably null	Het
Gpr152	T	C	19: 4,192,963 (GRCm39)	V168A	possibly damaging	Het
H1f0	G	A	15: 78,913,103 (GRCm39)	G61D	probably damaging	Het
Ihh	T	A	1: 74,987,492 (GRCm39)	K183M	probably damaging	Het
Itga2	A	G	13: 114,973,738 (GRCm39)	L1116P	probably damaging	Het
Kcnj10	A	G	1: 172,196,827 (GRCm39)	T114A	possibly damaging	Het
Kcnk3	T	G	5: 30,779,310 (GRCm39)	L120R	probably damaging	Het
Krt14	C	A	11: 100,095,926 (GRCm39)	E211*	probably null	Het
Lars2	T	C	9: 123,256,545 (GRCm39)	L350P	probably damaging	Het
Lrba	T	C	3: 86,259,209 (GRCm39)	I1408T	probably damaging	Het
Lrrc27	A	G	7: 138,806,022 (GRCm39)	E229G	probably benign	Het
Lrrc8e	G	T	8: 4,285,626 (GRCm39)	R617L	probably benign	Het
M1ap	A	G	6: 82,958,930 (GRCm39)	D187G	probably benign	Het
Marchf1	A	T	8: 66,921,051 (GRCm39)	K243*	probably null	Het
Med16	C	T	10: 79,739,031 (GRCm39)	V252M	probably damaging	Het
Micu3	T	C	8: 40,801,999 (GRCm39)	S189P	probably benign	Het
Mier2	C	A	10: 79,376,132 (GRCm39)	M264I	unknown	Het
Mindy4	A	T	6: 55,278,010 (GRCm39)	N618I	probably damaging	Het
Mmrn1	C	T	6: 60,953,320 (GRCm39)	Q534*	probably null	Het
Mroh9	C	T	1: 162,903,858 (GRCm39)		probably null	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Mta3	T	A	17: 84,015,870 (GRCm39)	I24N	probably damaging	Het
Mtmr4	A	T	11: 87,491,476 (GRCm39)	H147L	probably damaging	Het
Nfam1	T	C	15: 82,894,640 (GRCm39)	K155R	probably benign	Het
Nlrp6	A	T	7: 140,501,191 (GRCm39)		probably benign	Het
Or1q1	T	A	2: 36,886,873 (GRCm39)	I17N	possibly damaging	Het
Or5d37	A	T	2: 87,923,542 (GRCm39)	F246Y	probably benign	Het
Or5w20	T	C	2: 87,726,753 (GRCm39)		probably benign	Het
Or6d13	A	G	6: 116,517,495 (GRCm39)	E27G	probably benign	Het
Or9g4	A	G	2: 85,505,189 (GRCm39)	F102S		Het
P4ha1	A	G	10: 59,186,240 (GRCm39)	R240G	probably damaging	Het
Pla2r1	G	T	2: 60,288,723 (GRCm39)	D636E	probably benign	Het
Polr2a	A	G	11: 69,631,886 (GRCm39)	L1060P	possibly damaging	Het
Prr35	A	T	17: 26,165,685 (GRCm39)	V534D	probably damaging	Het
Ptgdr2	C	A	19: 10,918,319 (GRCm39)	Q279K	probably benign	Het
Rab11fip2	T	A	19: 59,925,853 (GRCm39)	R121S	probably benign	Het
Rasa2	T	C	9: 96,426,408 (GRCm39)	S813G	probably benign	Het
Rassf5	T	C	1: 131,106,273 (GRCm39)	K411E	possibly damaging	Het
Reep4	T	C	14: 70,783,987 (GRCm39)	Y35H	probably damaging	Het
Ror1	A	T	4: 100,283,140 (GRCm39)	M402L	probably benign	Het
Slc32a1	A	G	2: 158,456,326 (GRCm39)	E327G	probably damaging	Het
Spen	C	T	4: 141,206,696 (GRCm39)	E644K	unknown	Het
Tars3	C	G	7: 65,308,672 (GRCm39)	Q281E	probably damaging	Het
Tcl1	A	G	12: 105,184,934 (GRCm39)	I92T	probably damaging	Het
Tifab	A	G	13: 56,324,120 (GRCm39)	S108P	probably damaging	Het
Traf1	T	C	2: 34,838,245 (GRCm39)	N198D	probably benign	Het
Trim35	T	C	14: 66,546,654 (GRCm39)	Y474H	probably damaging	Het
Trim54	T	A	5: 31,294,505 (GRCm39)	D344E	probably benign	Het
Ttc28	A	T	5: 111,373,903 (GRCm39)	H1113L	probably damaging	Het
Vcam1	T	A	3: 115,908,211 (GRCm39)	D617V	probably damaging	Het
Vmn2r81	A	T	10: 79,104,219 (GRCm39)	T281S	probably benign	Het
Whrn	C	T	4: 63,350,196 (GRCm39)	R507K	possibly damaging	Het
Zdhhc14	A	G	17: 5,777,151 (GRCm39)	S303G	probably benign	Het
Zfp292	A	T	4: 34,806,839 (GRCm39)	N2073K	probably benign	Het
Zgpat	T	A	2: 181,022,228 (GRCm39)	V163D		Het

Other mutations in Cstf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01911:Cstf3	APN	2	104,476,976 (GRCm39)	missense	probably damaging	1.00
IGL02734:Cstf3	APN	2	104,439,539 (GRCm39)	splice site	probably benign
IGL03025:Cstf3	APN	2	104,439,276 (GRCm39)	missense	possibly damaging	0.82
Amanita	UTSW	2	104,420,926 (GRCm39)	start gained	probably benign
Ptomaine	UTSW	2	104,479,807 (GRCm39)	missense	probably benign
R0043:Cstf3	UTSW	2	104,475,430 (GRCm39)	splice site	probably benign
R0189:Cstf3	UTSW	2	104,482,791 (GRCm39)	missense	probably damaging	1.00
R0332:Cstf3	UTSW	2	104,476,812 (GRCm39)	critical splice donor site	probably null
R0499:Cstf3	UTSW	2	104,479,950 (GRCm39)	missense	possibly damaging	0.95
R1476:Cstf3	UTSW	2	104,478,564 (GRCm39)	missense	possibly damaging	0.82
R1677:Cstf3	UTSW	2	104,494,623 (GRCm39)	intron	probably benign
R1881:Cstf3	UTSW	2	104,484,563 (GRCm39)	missense	probably benign
R1916:Cstf3	UTSW	2	104,486,101 (GRCm39)	missense	possibly damaging	0.90
R3720:Cstf3	UTSW	2	104,483,431 (GRCm39)	splice site	probably benign
R3813:Cstf3	UTSW	2	104,439,466 (GRCm39)	missense	probably damaging	1.00
R5155:Cstf3	UTSW	2	104,482,830 (GRCm39)	missense	probably benign
R5304:Cstf3	UTSW	2	104,493,735 (GRCm39)	nonsense	probably null
R5564:Cstf3	UTSW	2	104,439,347 (GRCm39)	intron	probably benign
R5869:Cstf3	UTSW	2	104,489,585 (GRCm39)	splice site	probably null
R6172:Cstf3	UTSW	2	104,481,987 (GRCm39)	missense	probably damaging	1.00
R6747:Cstf3	UTSW	2	104,477,112 (GRCm39)	missense	probably damaging	1.00
R6841:Cstf3	UTSW	2	104,486,076 (GRCm39)	missense	probably benign	0.22
R6959:Cstf3	UTSW	2	104,479,807 (GRCm39)	missense	probably benign
R7139:Cstf3	UTSW	2	104,483,409 (GRCm39)	missense	possibly damaging	0.87
R7143:Cstf3	UTSW	2	104,476,961 (GRCm39)	missense	probably benign	0.01
R7794:Cstf3	UTSW	2	104,420,926 (GRCm39)	start gained	probably benign
R8315:Cstf3	UTSW	2	104,420,926 (GRCm39)	start gained	probably benign
R8873:Cstf3	UTSW	2	104,475,355 (GRCm39)	missense	possibly damaging	0.92
R9188:Cstf3	UTSW	2	104,439,223 (GRCm39)	missense	possibly damaging	0.68
R9339:Cstf3	UTSW	2	104,493,778 (GRCm39)	missense	probably damaging	1.00
R9612:Cstf3	UTSW	2	104,483,370 (GRCm39)	missense	possibly damaging	0.80
R9762:Cstf3	UTSW	2	104,494,684 (GRCm39)	nonsense	probably null
R9801:Cstf3	UTSW	2	104,421,024 (GRCm39)	missense	possibly damaging	0.73
X0013:Cstf3	UTSW	2	104,489,622 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- TGTTCATATAGTCCACGTAATGCC -3'
(R):5'- AACTGGGCAACAAGGCGTTC -3'

Sequencing Primer
(F):5'- TTCCAAAGGTCCGGAGTTCAGATC -3'
(R):5'- GCAACAAGGCGTTCGTAAGTCTTC -3'

Posted On

2019-09-13