Mutagenetix > Incidental Mutation

Incidental Mutation 'R0197:Cstf2t'

23525

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

038456-MU

Accession Numbers

Essential gene?

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

Stock #

R0197 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31060241-31063992 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31062026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 521 (M521L)

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: M521L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000093831
Gene: ENSMUSG00000053536
AA Change: M521L

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

0.0627

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.5%
20x: 75.9%

Validation Efficiency

97% (121/125)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,775,632 (GRCm39)	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,796,687 (GRCm39)	*118W	probably null	Het
Abcc2	A	T	19: 43,815,053 (GRCm39)	R1147*	probably null	Het
Acsbg3	A	T	17: 57,190,835 (GRCm39)	N468Y	probably benign	Het
Agap2	A	G	10: 126,927,571 (GRCm39)	T1131A	possibly damaging	Het
Aldh9a1	A	G	1: 167,189,416 (GRCm39)	D388G	probably damaging	Het
Ap3d1	G	T	10: 80,565,876 (GRCm39)	A97E	probably damaging	Het
Arhgef10	T	A	8: 15,012,636 (GRCm39)	V320E	probably damaging	Het
Baiap2l1	C	A	5: 144,202,820 (GRCm39)	V498L	probably damaging	Het
Bltp2	A	C	11: 78,160,530 (GRCm39)		probably benign	Het
Cdh2	T	C	18: 16,762,633 (GRCm39)	N437S	probably benign	Het
Cert1	T	A	13: 96,685,795 (GRCm39)	Y63N	probably benign	Het
Cfap119	T	C	7: 127,184,034 (GRCm39)	E261G	probably damaging	Het
Cfap20dc	C	T	14: 8,518,695 (GRCm38)	G254R	probably damaging	Het
Chd1	C	A	17: 15,945,693 (GRCm39)	N72K	probably benign	Het
Dlx5	T	C	6: 6,881,619 (GRCm39)	K90E	possibly damaging	Het
Dmp1	A	G	5: 104,355,496 (GRCm39)	E32G	possibly damaging	Het
Espnl	T	G	1: 91,272,211 (GRCm39)	Y524D	probably damaging	Het
Fam20c	T	C	5: 138,741,479 (GRCm39)	L30P	probably damaging	Het
Fat1	G	T	8: 45,479,590 (GRCm39)	A2879S	probably benign	Het
Gabrg1	A	T	5: 70,931,732 (GRCm39)	V337D	probably damaging	Het
Gart	C	A	16: 91,420,291 (GRCm39)	D851Y	possibly damaging	Het
Gcc1	T	C	6: 28,420,615 (GRCm39)	H234R	probably damaging	Het
Gemin6	T	A	17: 80,535,524 (GRCm39)	H161Q	probably damaging	Het
Glt6d1	A	G	2: 25,684,082 (GRCm39)	I308T	probably benign	Het
Gm10320	T	C	13: 98,628,491 (GRCm39)	T7A	probably benign	Het
Gm10912	T	C	2: 103,896,875 (GRCm39)	S5P	probably benign	Het
Gmpr2	T	A	14: 55,910,192 (GRCm39)	D7E	possibly damaging	Het
Hc	A	G	2: 34,874,762 (GRCm39)	Y1620H	probably damaging	Het
Hoxa3	T	C	6: 52,147,123 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,309,907 (GRCm39)	T1105A	probably benign	Het
Kdr	G	T	5: 76,129,082 (GRCm39)	T188N	possibly damaging	Het
Lepr	A	T	4: 101,609,349 (GRCm39)	D312V	possibly damaging	Het
Mcm3	A	G	1: 20,880,329 (GRCm39)	V501A	probably damaging	Het
Mcur1	T	C	13: 43,699,216 (GRCm39)	Y267C	probably damaging	Het
Med13	T	A	11: 86,197,864 (GRCm39)	T736S	probably benign	Het
Med13l	T	C	5: 118,809,067 (GRCm39)		probably benign	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Ndrg2	T	A	14: 52,144,460 (GRCm39)		probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Onecut2	T	A	18: 64,474,543 (GRCm39)	S365T	possibly damaging	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or4c10	A	G	2: 89,760,545 (GRCm39)	T131A	probably benign	Het
Or4k48	C	T	2: 111,476,136 (GRCm39)	V69I	probably benign	Het
Or51e1	T	A	7: 102,359,202 (GRCm39)	H245Q	probably damaging	Het
Pds5b	C	A	5: 150,677,896 (GRCm39)	Q505K	probably benign	Het
Pramel22	C	T	4: 143,383,010 (GRCm39)	E70K	possibly damaging	Het
Rfx2	T	C	17: 57,110,722 (GRCm39)	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,346,541 (GRCm39)	V214A	probably benign	Het
Samd3	T	A	10: 26,147,752 (GRCm39)	C476S	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Shank1	C	T	7: 44,001,718 (GRCm39)	R1146W	unknown	Het
Smcr8	T	C	11: 60,668,941 (GRCm39)	Y30H	probably damaging	Het
Smpd4	T	A	16: 17,459,461 (GRCm39)		probably null	Het
Strip1	C	A	3: 107,521,929 (GRCm39)	D750Y	probably damaging	Het
Svep1	T	C	4: 58,070,851 (GRCm39)	K2312E	possibly damaging	Het
Taf1c	A	T	8: 120,326,722 (GRCm39)	I438N	probably damaging	Het
Tnfaip1	A	T	11: 78,420,840 (GRCm39)		probably benign	Het
Unc45b	T	A	11: 82,831,031 (GRCm39)	L797Q	possibly damaging	Het
Usp24	T	A	4: 106,264,330 (GRCm39)	W1754R	probably damaging	Het
Utp20	G	A	10: 88,613,378 (GRCm39)	P1301L	probably benign	Het
Vmn2r115	T	A	17: 23,578,755 (GRCm39)	S743T	probably damaging	Het
Vps41	T	G	13: 19,038,833 (GRCm39)		probably null	Het
Vps72	G	T	3: 95,029,894 (GRCm39)	L304F	probably damaging	Het
Wiz	A	T	17: 32,575,415 (GRCm39)	I907N	probably damaging	Het
Zfp521	T	C	18: 13,978,119 (GRCm39)	T765A	probably benign	Het
Zfp616	A	T	11: 73,976,500 (GRCm39)	H923L	probably damaging	Het
Zp2	A	T	7: 119,742,799 (GRCm39)		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
R0099:Cstf2t	UTSW	19	31,061,231 (GRCm39)	missense	probably benign	0.00
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'- TGGGAGATGCTCCAAATGACCCAC -3'
(R):5'- TTGCCCAGGGCTAAAACTGCTAGG -3'

Sequencing Primer
(F):5'- TCCCATGATAGATCAGAGAGGTCTAC -3'
(R):5'- GCATCCCTCCTTGCATGCTA -3'

Posted On

2013-04-16