Mutagenetix > Incidental Mutation

Incidental Mutation 'R7648:Cstf2t'

590668

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

045726-MU

Accession Numbers

Essential gene?

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

Stock #

R7648 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31060241-31063992 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31060992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 176 (Q176R)

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

possibly damaging
Transcript: ENSMUST00000066039
AA Change: Q176R

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093831
Gene: ENSMUSG00000053536
AA Change: Q176R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,261,886 (GRCm39)	V46A	possibly damaging	Het
Asb13	C	A	13: 3,699,332 (GRCm39)	N177K	probably damaging	Het
Asprv1	A	G	6: 86,605,852 (GRCm39)	T233A	probably damaging	Het
Atad2b	T	A	12: 5,077,182 (GRCm39)		probably null	Het
Atxn2	G	T	5: 121,934,440 (GRCm39)	V880F	probably damaging	Het
Car14	T	C	3: 95,805,507 (GRCm39)	N322S	probably benign	Het
Cdc42bpb	T	C	12: 111,343,587 (GRCm39)	E40G	probably damaging	Het
Ceacam16	G	T	7: 19,586,203 (GRCm39)	A103E	unknown	Het
Cnnm2	A	G	19: 46,866,339 (GRCm39)	D829G	probably damaging	Het
Cpt1b	C	T	15: 89,305,570 (GRCm39)	A382T	probably damaging	Het
Crygc	A	G	1: 65,112,484 (GRCm39)	F30S	probably damaging	Het
Ctif	A	T	18: 75,770,213 (GRCm39)	H57Q	probably benign	Het
Cyp2c40	A	G	19: 39,792,289 (GRCm39)	*195Q	probably null	Het
Cyp2j8	T	A	4: 96,387,840 (GRCm39)	D207V	probably damaging	Het
Ddx49	A	G	8: 70,750,605 (GRCm39)	V123A	possibly damaging	Het
E4f1	A	T	17: 24,664,422 (GRCm39)	I456K	probably benign	Het
Eif4b	T	C	15: 101,997,435 (GRCm39)	S317P	unknown	Het
Enam	A	T	5: 88,652,016 (GRCm39)	Q1175L	possibly damaging	Het
Eppk1	T	C	15: 75,994,871 (GRCm39)	Y670C	probably benign	Het
Fam163b	G	T	2: 27,002,752 (GRCm39)	Q82K	probably benign	Het
Fam193a	A	T	5: 34,588,526 (GRCm39)	K358N	probably damaging	Het
Gls	C	A	1: 52,235,939 (GRCm39)	R392L	probably damaging	Het
Gramd1c	A	G	16: 43,810,232 (GRCm39)	V247A	probably damaging	Het
Gucy1a1	C	T	3: 82,016,014 (GRCm39)	E325K	possibly damaging	Het
Hectd4	T	C	5: 121,392,434 (GRCm39)	C233R	possibly damaging	Het
Ice1	A	G	13: 70,737,916 (GRCm39)	V2177A	possibly damaging	Het
Kif28	A	G	1: 179,536,989 (GRCm39)	V498A	possibly damaging	Het
Klhdc7a	T	C	4: 139,693,250 (GRCm39)	S566G	possibly damaging	Het
Mlph	G	A	1: 90,861,248 (GRCm39)		probably null	Het
Mndal	T	A	1: 173,684,961 (GRCm39)	Y536F	probably benign	Het
Mrgpra2a	A	T	7: 47,076,411 (GRCm39)	C282*	probably null	Het
Msantd5	G	A	11: 51,125,613 (GRCm39)	E179K	possibly damaging	Het
Msh3	A	T	13: 92,410,536 (GRCm39)	I684N	probably damaging	Het
Mylk	G	C	16: 34,699,894 (GRCm39)	S419T	probably benign	Het
Nfxl1	T	C	5: 72,680,879 (GRCm39)	K747R	probably benign	Het
Nup98	T	G	7: 101,773,404 (GRCm39)	H1641P	possibly damaging	Het
Or8b35	A	C	9: 37,903,856 (GRCm39)	T18P	probably damaging	Het
Pcm1	A	G	8: 41,728,736 (GRCm39)	N570D	probably damaging	Het
Plekhh1	T	A	12: 79,101,905 (GRCm39)	V325E	probably benign	Het
Rabl3	A	T	16: 37,384,120 (GRCm39)	I176F	probably damaging	Het
Relb	T	C	7: 19,353,767 (GRCm39)	E37G	possibly damaging	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Tars2	G	A	3: 95,658,294 (GRCm39)	T177I	probably benign	Het
Tenm2	T	A	11: 35,997,563 (GRCm39)	N842I	probably damaging	Het
Tmem175	A	G	5: 108,792,432 (GRCm39)	E236G	possibly damaging	Het
Trank1	A	G	9: 111,220,753 (GRCm39)	T2497A	probably benign	Het
Trf	A	G	9: 103,105,168 (GRCm39)	V48A	probably benign	Het
Ttc28	A	G	5: 111,331,258 (GRCm39)	K493E	possibly damaging	Het
Unc50	T	C	1: 37,470,402 (GRCm39)	S9P	probably benign	Het
Uso1	T	A	5: 92,341,861 (GRCm39)		probably null	Het
Usp49	A	T	17: 47,985,753 (GRCm39)	N487I	possibly damaging	Het
Xab2	T	C	8: 3,660,638 (GRCm39)	D768G	probably benign	Het
Xcr1	T	C	9: 123,685,657 (GRCm39)	E35G	possibly 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
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
R8317:Cstf2t	UTSW	19	31,061,648 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CTATCGACCCAGAAGATGCTCC -3'
(R):5'- CTTCTTGGCAGATGCTGAGG -3'

Sequencing Primer
(F):5'- GATGCTCCAGAATCGATTACTAGAGC -3'
(R):5'- GGTTCAACATGACGTTAGGTCCC -3'

Posted On

2019-10-24