Mutagenetix > Incidental Mutations

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

64kDa, tCstF-64

MMRRC Submission

038456-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

R0197 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31082841-31086590 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31084626 bp

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]

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

0.114

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: 138,069,871	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,648,821	*118W	probably null	Het
1700061G19Rik	A	T	17: 56,883,835	N468Y	probably benign	Het
2610507B11Rik	A	C	11: 78,269,704		probably benign	Het
4930452B06Rik	C	T	14: 8,518,695	G254R	probably damaging	Het
Abcc2	A	T	19: 43,826,614	R1147*	probably null	Het
Agap2	A	G	10: 127,091,702	T1131A	possibly damaging	Het
Aldh9a1	A	G	1: 167,361,847	D388G	probably damaging	Het
Ap3d1	G	T	10: 80,730,042	A97E	probably damaging	Het
Arhgef10	T	A	8: 14,962,636	V320E	probably damaging	Het
Baiap2l1	C	A	5: 144,266,010	V498L	probably damaging	Het
Ccdc189	T	C	7: 127,584,862	E261G	probably damaging	Het
Cdh2	T	C	18: 16,629,576	N437S	probably benign	Het
Chd1	C	A	17: 15,725,431	N72K	probably benign	Het
Col4a3bp	T	A	13: 96,549,287	Y63N	probably benign	Het
Dlx5	T	C	6: 6,881,619	K90E	possibly damaging	Het
Dmp1	A	G	5: 104,207,630	E32G	possibly damaging	Het
Espnl	T	G	1: 91,344,489	Y524D	probably damaging	Het
Fam20c	T	C	5: 138,755,724	L30P	probably damaging	Het
Fat1	G	T	8: 45,026,553	A2879S	probably benign	Het
Gabrg1	A	T	5: 70,774,389	V337D	probably damaging	Het
Gart	C	A	16: 91,623,403	D851Y	possibly damaging	Het
Gcc1	T	C	6: 28,420,616	H234R	probably damaging	Het
Gemin6	T	A	17: 80,228,095	H161Q	probably damaging	Het
Glt6d1	A	G	2: 25,794,070	I308T	probably benign	Het
Gm10320	T	C	13: 98,491,983	T7A	probably benign	Het
Gm10912	T	C	2: 104,066,530	S5P	probably benign	Het
Gm13088	C	T	4: 143,656,440	E70K	possibly damaging	Het
Gmpr2	T	A	14: 55,672,735	D7E	possibly damaging	Het
Hc	A	G	2: 34,984,750	Y1620H	probably damaging	Het
Hoxa3	T	C	6: 52,170,143		probably benign	Het
Ift140	A	G	17: 25,090,933	T1105A	probably benign	Het
Kdr	G	T	5: 75,968,422	T188N	possibly damaging	Het
Lepr	A	T	4: 101,752,152	D312V	possibly damaging	Het
Mcm3	A	G	1: 20,810,105	V501A	probably damaging	Het
Mcur1	T	C	13: 43,545,740	Y267C	probably damaging	Het
Med13	T	A	11: 86,307,038	T736S	probably benign	Het
Med13l	T	C	5: 118,671,002		probably benign	Het
Mroh2a	G	C	1: 88,246,042	A871P	probably damaging	Het
Ndrg2	T	A	14: 51,907,003		probably benign	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Olfr1258	A	G	2: 89,930,201	T131A	probably benign	Het
Olfr1298	C	T	2: 111,645,791	V69I	probably benign	Het
Olfr272	G	A	4: 52,910,849	T315M	probably benign	Het
Olfr558	T	A	7: 102,709,995	H245Q	probably damaging	Het
Onecut2	T	A	18: 64,341,472	S365T	possibly damaging	Het
Pds5b	C	A	5: 150,754,431	Q505K	probably benign	Het
Rfx2	T	C	17: 56,803,722	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,208,478	V214A	probably benign	Het
Samd3	T	A	10: 26,271,854	C476S	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,146,254		probably null	Het
Shank1	C	T	7: 44,352,294	R1146W	unknown	Het
Smcr8	T	C	11: 60,778,115	Y30H	probably damaging	Het
Smpd4	T	A	16: 17,641,597		probably null	Het
Strip1	C	A	3: 107,614,613	D750Y	probably damaging	Het
Svep1	T	C	4: 58,070,851	K2312E	possibly damaging	Het
Taf1c	A	T	8: 119,599,983	I438N	probably damaging	Het
Tnfaip1	A	T	11: 78,530,014		probably benign	Het
Unc45b	T	A	11: 82,940,205	L797Q	possibly damaging	Het
Usp24	T	A	4: 106,407,133	W1754R	probably damaging	Het
Utp20	G	A	10: 88,777,516	P1301L	probably benign	Het
Vmn2r115	T	A	17: 23,359,781	S743T	probably damaging	Het
Vps41	T	G	13: 18,854,663		probably null	Het
Vps72	G	T	3: 95,122,583	L304F	probably damaging	Het
Wiz	A	T	17: 32,356,441	I907N	probably damaging	Het
Zfp521	T	C	18: 13,845,062	T765A	probably benign	Het
Zfp616	A	T	11: 74,085,674	H923L	probably damaging	Het
Zp2	A	T	7: 120,143,576		probably benign	Het

Other mutations in Cstf2t

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01731:Cstf2t	APN	19	31084338	missense	probably benign	0.00
IGL01739:Cstf2t	APN	19	31083136	missense	probably damaging	1.00
IGL02466:Cstf2t	APN	19	31083877	missense	possibly damaging	0.88
R0064:Cstf2t	UTSW	19	31083299	missense	probably damaging	0.99
R0099:Cstf2t	UTSW	19	31083831	missense	probably benign	0.00
R0423:Cstf2t	UTSW	19	31084276	missense	possibly damaging	0.89
R0883:Cstf2t	UTSW	19	31084626	missense	probably benign	0.01
R1753:Cstf2t	UTSW	19	31083685	missense	possibly damaging	0.52
R2206:Cstf2t	UTSW	19	31083775	missense	probably benign	0.00
R2291:Cstf2t	UTSW	19	31084864	missense	probably benign	0.36
R3753:Cstf2t	UTSW	19	31083295	missense	probably damaging	1.00
R4523:Cstf2t	UTSW	19	31083082	missense	possibly damaging	0.47
R4991:Cstf2t	UTSW	19	31084583	missense	probably damaging	0.97
R5134:Cstf2t	UTSW	19	31084094	missense	probably damaging	1.00
R5863:Cstf2t	UTSW	19	31083077	missense	probably damaging	1.00
R6081:Cstf2t	UTSW	19	31083123	missense	probably benign	0.10
R6573:Cstf2t	UTSW	19	31083780	missense	probably benign	0.00

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