Mutagenetix > Incidental Mutation

Incidental Mutation 'R0099:Cstf2t'

33182

Institutional Source

Beutler Lab

Gene Symbol

Cstf2t

Ensembl Gene

ENSMUSG00000053536

Gene Name

cleavage stimulation factor, 3' pre-RNA subunit 2, tau

Synonyms

tCstF-64, 64kDa

MMRRC Submission

038385-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.411) question?

Stock #

R0099 (G1)

Quality Score

146

Status

Validated (trace)

Chromosome

Chromosomal Location

31060241-31063992 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31061231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 256 (R256G)

Ref Sequence

ENSEMBL: ENSMUSP00000093831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065067] [ENSMUST00000066039] [ENSMUST00000073581]

AlphaFold

Q8C7E9

Predicted Effect

probably benign
Transcript: ENSMUST00000065067

SMART Domains

Protein: ENSMUSP00000067576
Gene: ENSMUSG00000052920

Domain	Start	End	E-Value	Type
coiled coil region	5	49	N/A	INTRINSIC
cNMP	103	216	6.37e-27	SMART
cNMP	221	343	1.23e-33	SMART
S_TKc	360	619	5.25e-91	SMART
S_TK_X	620	671	1.55e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066039
AA Change: R256G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000093831
Gene: ENSMUSG00000053536
AA Change: R256G

Domain	Start	End	E-Value	Type
RRM	17	90	6.19e-29	SMART
Pfam:CSTF2_hinge	112	191	5.4e-32	PFAM
low complexity region	202	236	N/A	INTRINSIC
low complexity region	240	257	N/A	INTRINSIC
low complexity region	271	295	N/A	INTRINSIC
low complexity region	297	310	N/A	INTRINSIC
low complexity region	321	339	N/A	INTRINSIC
low complexity region	364	379	N/A	INTRINSIC
low complexity region	508	584	N/A	INTRINSIC
Pfam:CSTF_C	588	628	7.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073581

SMART Domains

Protein: ENSMUSP00000073268
Gene: ENSMUSG00000052920

Domain	Start	End	E-Value	Type
coiled coil region	10	62	N/A	INTRINSIC
cNMP	118	231	6.37e-27	SMART
cNMP	236	358	1.23e-33	SMART
S_TKc	375	634	5.25e-91	SMART
S_TK_X	635	686	1.55e-10	SMART

Meta Mutation Damage Score

0.1126

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (65/65)

MGI Phenotype

PHENOTYPE: Male mice homozygous for a targeted null allele are infertile due to low sperm counts, significant developmental defects in spermiogenesis, and variable abnormalities in epididymal sperm morphology and motility consistent with oligoasthenoteratozoospermia. Homozygous null females are fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018M24Rik	C	T	14: 51,134,179 (GRCm39)		probably benign	Het
Aadacl2fm1	A	C	3: 59,843,856 (GRCm39)	K183N	probably benign	Het
Acad10	A	C	5: 121,759,353 (GRCm39)	D1043E	probably damaging	Het
Adamtsl4	C	T	3: 95,591,449 (GRCm39)	G173R	probably benign	Het
Astn1	G	T	1: 158,329,721 (GRCm39)	S192I	probably damaging	Het
Atg2a	T	A	19: 6,302,819 (GRCm39)	V1010E	probably damaging	Het
Col11a2	A	G	17: 34,268,648 (GRCm39)	E311G	probably damaging	Het
Col4a3	A	C	1: 82,695,714 (GRCm39)	E1638A	probably benign	Het
Cyp4a12a	T	C	4: 115,183,869 (GRCm39)	L225P	probably damaging	Het
Dnah5	G	A	15: 28,240,080 (GRCm39)	R479H	probably damaging	Het
Dsg3	A	G	18: 20,673,079 (GRCm39)	I917V	probably benign	Het
Fam76a	G	T	4: 132,638,098 (GRCm39)		probably benign	Het
Fras1	T	A	5: 96,762,776 (GRCm39)		probably null	Het
Gli1	A	G	10: 127,171,875 (GRCm39)	V293A	probably damaging	Het
Gm10782	T	A	13: 56,510,956 (GRCm39)		noncoding transcript	Het
Greb1l	A	G	18: 10,509,158 (GRCm39)	E490G	probably damaging	Het
Hydin	G	A	8: 111,316,193 (GRCm39)	G4362R	probably damaging	Het
Ica1	A	T	6: 8,749,778 (GRCm39)		probably benign	Het
Ikzf4	T	A	10: 128,470,066 (GRCm39)	I485F	probably damaging	Het
Irf5	A	G	6: 29,533,966 (GRCm39)	T34A	probably damaging	Het
Krt81	A	T	15: 101,361,402 (GRCm39)	C59*	probably null	Het
Kynu	T	A	2: 43,519,065 (GRCm39)		probably null	Het
Ly6g6c	T	C	17: 35,287,891 (GRCm39)	V61A	probably damaging	Het
Manea	A	C	4: 26,328,104 (GRCm39)	I312M	probably damaging	Het
Micall1	G	T	15: 79,016,101 (GRCm39)		probably benign	Het
Mthfs	A	T	9: 89,108,216 (GRCm39)		probably benign	Het
Myh4	A	G	11: 67,150,173 (GRCm39)	T1877A	probably benign	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Nepn	A	G	10: 52,277,181 (GRCm39)	S306G	probably damaging	Het
Nol8	T	C	13: 49,826,165 (GRCm39)	V995A	probably benign	Het
Or5b101	A	G	19: 13,005,165 (GRCm39)	F176S	probably damaging	Het
Or5b105	T	A	19: 13,080,504 (GRCm39)	T49S	probably benign	Het
Or8a1b	A	T	9: 37,622,750 (GRCm39)	V275E	probably damaging	Het
Or8g4	A	G	9: 39,661,957 (GRCm39)	I92V	possibly damaging	Het
Pde1a	T	A	2: 79,698,657 (GRCm39)		probably null	Het
Phf14	A	G	6: 11,987,696 (GRCm39)		probably benign	Het
Plekhh2	C	T	17: 84,899,100 (GRCm39)	Q1026*	probably null	Het
Polr2b	T	A	5: 77,468,797 (GRCm39)		probably benign	Het
Ppp1r36	G	T	12: 76,483,056 (GRCm39)		probably null	Het
Prdm14	A	T	1: 13,189,169 (GRCm39)	C392S	probably damaging	Het
Rabgap1l	A	G	1: 160,509,686 (GRCm39)	S436P	possibly damaging	Het
Rfc2	A	T	5: 134,624,135 (GRCm39)		probably null	Het
Rfx4	A	T	10: 84,730,168 (GRCm39)	M437L	probably benign	Het
Rgs17	T	A	10: 5,792,583 (GRCm39)	R74S	probably benign	Het
Rnf139	C	A	15: 58,771,264 (GRCm39)	L430I	probably damaging	Het
Sgsm1	C	A	5: 113,422,226 (GRCm39)		probably benign	Het
Skint6	T	A	4: 112,668,698 (GRCm39)	T1126S	possibly damaging	Het
Slc15a2	T	C	16: 36,573,398 (GRCm39)	E602G	probably damaging	Het
Stpg2	T	C	3: 138,948,954 (GRCm39)		probably benign	Het
Sycp2l	T	C	13: 41,283,001 (GRCm39)		probably benign	Het
Tlr11	A	T	14: 50,598,275 (GRCm39)	N87I	probably benign	Het
Tril	A	G	6: 53,795,348 (GRCm39)	F625L	probably damaging	Het
Ube3c	T	A	5: 29,812,062 (GRCm39)	V434E	probably damaging	Het
Usp34	G	A	11: 23,313,111 (GRCm39)	G533R	probably damaging	Het
Utp25	A	G	1: 192,810,778 (GRCm39)	L75P	probably damaging	Het
Zfp93	G	T	7: 23,974,900 (GRCm39)	R295L	probably benign	Het

Other mutations in Cstf2t

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01731:Cstf2t	APN	19	31,061,738 (GRCm39)	missense	probably benign	0.00
IGL01739:Cstf2t	APN	19	31,060,536 (GRCm39)	missense	probably damaging	1.00
IGL02466:Cstf2t	APN	19	31,061,277 (GRCm39)	missense	possibly damaging	0.88
R0064:Cstf2t	UTSW	19	31,060,699 (GRCm39)	missense	probably damaging	0.99
R0197:Cstf2t	UTSW	19	31,062,026 (GRCm39)	missense	probably benign	0.01
R0423:Cstf2t	UTSW	19	31,061,676 (GRCm39)	missense	possibly damaging	0.89
R0883:Cstf2t	UTSW	19	31,062,026 (GRCm39)	missense	probably benign	0.01
R1753:Cstf2t	UTSW	19	31,061,085 (GRCm39)	missense	possibly damaging	0.52
R2206:Cstf2t	UTSW	19	31,061,175 (GRCm39)	missense	probably benign	0.00
R2291:Cstf2t	UTSW	19	31,062,264 (GRCm39)	missense	probably benign	0.36
R3753:Cstf2t	UTSW	19	31,060,695 (GRCm39)	missense	probably damaging	1.00
R4523:Cstf2t	UTSW	19	31,060,482 (GRCm39)	missense	possibly damaging	0.47
R4991:Cstf2t	UTSW	19	31,061,983 (GRCm39)	missense	probably damaging	0.97
R5134:Cstf2t	UTSW	19	31,061,494 (GRCm39)	missense	probably damaging	1.00
R5863:Cstf2t	UTSW	19	31,060,477 (GRCm39)	missense	probably damaging	1.00
R6081:Cstf2t	UTSW	19	31,060,523 (GRCm39)	missense	probably benign	0.10
R6573:Cstf2t	UTSW	19	31,061,180 (GRCm39)	missense	probably benign	0.00
R7408:Cstf2t	UTSW	19	31,060,593 (GRCm39)	missense	possibly damaging	0.94
R7648:Cstf2t	UTSW	19	31,060,992 (GRCm39)	missense	possibly damaging	0.79
R8317:Cstf2t	UTSW	19	31,061,648 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GTGTCCAGAACAGTCACCAGGAAG -3'
(R):5'- AGTCACTGAGAGCAAAGTCCCTCC -3'

Sequencing Primer
(F):5'- GCTCGAAACATGCTACTTCAG -3'
(R):5'- ATTTGGAGCATCTCCCAGTAG -3'

Posted On

2013-05-09