Mutagenetix > Incidental Mutation

Incidental Mutation 'R3753:Cstf2t'

271341

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

Accession Numbers

Essential gene?

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

Stock #

R3753 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31060241-31063992 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 31060695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 77 (L77R)

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 damaging
Transcript: ENSMUST00000066039
AA Change: L77R

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

SMART Domains

Protein: ENSMUSP00000093831
Gene: ENSMUSG00000053536
AA Change: L77R

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

0.7923

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (49/50)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,121,677 (GRCm39)	I74N	probably damaging	Het
Acp7	T	A	7: 28,316,085 (GRCm39)	Y167F	probably damaging	Het
Acsl1	A	T	8: 46,966,602 (GRCm39)		probably benign	Het
Bcr	T	C	10: 74,971,772 (GRCm39)	V599A	probably benign	Het
Brd1	C	T	15: 88,573,821 (GRCm39)	V1093I	possibly damaging	Het
Cep152	A	G	2: 125,466,972 (GRCm39)		probably benign	Het
Drd3	C	T	16: 43,637,466 (GRCm39)	R254W	probably damaging	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fam187a	C	T	11: 102,776,675 (GRCm39)	P160S	probably benign	Het
Fat1	G	A	8: 45,478,516 (GRCm39)	E2521K	probably damaging	Het
Fbln1	T	A	15: 85,111,279 (GRCm39)	C144*	probably null	Het
Flii	T	C	11: 60,606,306 (GRCm39)	D1128G	probably benign	Het
Gask1a	A	T	9: 121,794,899 (GRCm39)	D351V	probably damaging	Het
Gata3	T	A	2: 9,873,651 (GRCm39)	H281L	probably benign	Het
Iqsec3	C	T	6: 121,353,214 (GRCm39)	A1135T	probably benign	Het
Irak4	T	C	15: 94,459,476 (GRCm39)	I364T	probably damaging	Het
Mib2	A	G	4: 155,739,741 (GRCm39)	F810S	probably damaging	Het
Nbn	G	A	4: 15,964,269 (GRCm39)	V115I	probably damaging	Het
Nfyc	G	T	4: 120,622,527 (GRCm39)		probably benign	Het
Nup210	A	T	6: 90,998,377 (GRCm39)		probably null	Het
Or2g1	T	C	17: 38,107,123 (GRCm39)	S263P	possibly damaging	Het
Or2t48	C	T	11: 58,420,516 (GRCm39)	A99T	probably benign	Het
Or8j3b	C	T	2: 86,205,259 (GRCm39)	V166I	possibly damaging	Het
Paqr8	A	G	1: 21,005,856 (GRCm39)	T337A	probably benign	Het
Plce1	T	C	19: 38,640,278 (GRCm39)	V508A	probably benign	Het
Prmt2	G	T	10: 76,061,137 (GRCm39)	D116E	probably benign	Het
Prss51	T	A	14: 64,333,624 (GRCm39)		probably benign	Het
Prune2	T	A	19: 17,102,818 (GRCm39)	V2659D	probably benign	Het
Ptpn3	C	T	4: 57,270,144 (GRCm39)	R6H	probably damaging	Het
Ramac	C	T	7: 81,417,395 (GRCm39)	R32C	probably damaging	Het
Rdh12	C	T	12: 79,260,446 (GRCm39)	R181*	probably null	Het
Rsf1	T	A	7: 97,311,359 (GRCm39)	D696E	probably benign	Het
Sh3rf2	C	T	18: 42,244,373 (GRCm39)	R280C	probably damaging	Het
Slco6d1	T	A	1: 98,427,502 (GRCm39)	I611K	probably damaging	Het
Snph	G	A	2: 151,435,374 (GRCm39)	P449L	probably benign	Het
Spg7	G	C	8: 123,814,112 (GRCm39)	R457P	probably damaging	Het
Swap70	T	A	7: 109,867,088 (GRCm39)	W297R	probably damaging	Het
Tcaf3	T	A	6: 42,566,738 (GRCm39)	I784F	probably damaging	Het
Tcstv2c	A	T	13: 120,616,167 (GRCm39)	D2V	possibly damaging	Het
Tox2	T	A	2: 163,156,243 (GRCm39)	I138N	probably damaging	Het
Trim54	A	C	5: 31,291,488 (GRCm39)	E203A	probably damaging	Het
Vmn2r19	A	T	6: 123,292,548 (GRCm39)	T197S	possibly damaging	Het
Vmn2r28	T	A	7: 5,491,026 (GRCm39)	H407L	probably damaging	Het
Wdr19	G	A	5: 65,382,069 (GRCm39)	V430M	probably damaging	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
R0099:Cstf2t	UTSW	19	31,061,231 (GRCm39)	missense	probably benign	0.00
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
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'- ACATTCCGTATGAGGCGAC -3'
(R):5'- GTGACTGTTCTGGACACACAAC -3'

Sequencing Primer
(F):5'- CGGAGGAGCAGTTAAAGGACATTTTC -3'
(R):5'- AGCTCAAACATCTGCTCTGGG -3'

Posted On

2015-03-18