Mutagenetix > Incidental Mutation

Incidental Mutation 'R4991:Cstf2t'

386231

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

042585-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.426) question?

Stock #

R4991 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

31060241-31063992 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31061983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 506 (N506K)

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: N506K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093831
Gene: ENSMUSG00000053536
AA Change: N506K

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

0.0845

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.0%

Validation Efficiency

95% (73/77)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	G	T	14: 56,010,922 (GRCm39)	T665K	probably benign	Het
Adgrf3	C	T	5: 30,404,146 (GRCm39)	V369M	probably benign	Het
Als2	T	C	1: 59,246,927 (GRCm39)	K571E	probably benign	Het
Amer3	A	C	1: 34,627,822 (GRCm39)	D687A	probably benign	Het
Asb14	T	C	14: 26,637,015 (GRCm39)	S586P	probably damaging	Het
Catspere2	A	C	1: 177,925,987 (GRCm39)	I218L	probably benign	Het
Chmp4b	A	G	2: 154,534,545 (GRCm39)	E187G	probably benign	Het
Cox6b2	T	C	7: 4,755,160 (GRCm39)	D38G	probably damaging	Het
Cpm	G	A	10: 117,504,008 (GRCm39)	C138Y	probably damaging	Het
Csmd3	G	T	15: 47,864,874 (GRCm39)	P785Q	probably damaging	Het
Cstf1	A	G	2: 172,219,720 (GRCm39)	Y277C	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Ebf2	A	T	14: 67,627,106 (GRCm39)	T265S	possibly damaging	Het
Elmo1	T	C	13: 20,526,689 (GRCm39)	F413S	probably damaging	Het
Fbp1	C	T	13: 63,012,888 (GRCm39)	V102I	probably benign	Het
Gm19684	A	G	17: 36,438,364 (GRCm39)		probably benign	Het
Gm29106	T	C	1: 118,106,121 (GRCm39)	M37T	probably benign	Het
Grem2	A	G	1: 174,664,379 (GRCm39)	C157R	probably damaging	Het
Hdac5	T	A	11: 102,096,450 (GRCm39)	E252D	probably damaging	Het
Ifitm3	A	T	7: 140,590,372 (GRCm39)	F63I	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Irx4	G	T	13: 73,413,626 (GRCm39)	R32L	probably benign	Het
Itgb1bp1	C	T	12: 21,324,849 (GRCm39)	G69D	probably damaging	Het
Kcnh3	A	G	15: 99,130,637 (GRCm39)	D418G	probably benign	Het
Kif1a	T	C	1: 93,006,530 (GRCm39)	T46A	probably benign	Het
Klk1b26	T	A	7: 43,665,673 (GRCm39)		probably null	Het
Lca5l	T	C	16: 95,960,932 (GRCm39)	E510G	possibly damaging	Het
Lrriq1	A	G	10: 103,036,420 (GRCm39)	I911T	probably damaging	Het
Mios	T	G	6: 8,215,847 (GRCm39)	S348A	probably benign	Het
Mog	T	C	17: 37,328,381 (GRCm39)		probably null	Het
Mtmr7	A	G	8: 41,007,386 (GRCm39)	S516P	probably damaging	Het
Nat8f4	T	C	6: 85,878,122 (GRCm39)	K134E	probably benign	Het
Nbeal2	C	T	9: 110,467,835 (GRCm39)	C451Y	probably damaging	Het
Nkx2-1	T	C	12: 56,581,724 (GRCm39)	Y41C	possibly damaging	Het
Nmnat1	G	A	4: 149,553,584 (GRCm39)	T176M	possibly damaging	Het
Nrxn3	T	A	12: 89,227,244 (GRCm39)	I293N	probably damaging	Het
Or5af2	T	C	11: 58,708,544 (GRCm39)	S237P	probably damaging	Het
Or5b97	T	G	19: 12,878,815 (GRCm39)	T110P	probably damaging	Het
Or5m8	A	G	2: 85,822,631 (GRCm39)	M157V	probably damaging	Het
Osgin1	A	G	8: 120,172,028 (GRCm39)	E274G	probably damaging	Het
Otof	G	A	5: 30,551,525 (GRCm39)	R343W	probably damaging	Het
Pcdha9	A	T	18: 37,131,398 (GRCm39)	I156F	probably damaging	Het
Pcsk4	A	G	10: 80,161,215 (GRCm39)	I233T	possibly damaging	Het
Pira12	T	G	7: 3,898,571 (GRCm39)	Q292H	probably benign	Het
Samd4	A	T	14: 47,311,467 (GRCm39)	S262C	probably damaging	Het
Snap91	T	C	9: 86,672,207 (GRCm39)		probably null	Het
Spata31d1a	T	C	13: 59,850,965 (GRCm39)	N388D	probably benign	Het
St3gal4	A	G	9: 34,964,432 (GRCm39)	V190A	possibly damaging	Het
Sv2b	T	C	7: 74,767,470 (GRCm39)	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810 (GRCm39)	I561K	probably benign	Het
Tmem201	A	T	4: 149,812,612 (GRCm39)	Y235N	possibly damaging	Het
Tpx2	T	C	2: 152,711,644 (GRCm39)	S60P	probably benign	Het
Trpa1	T	C	1: 14,980,970 (GRCm39)	Y144C	probably benign	Het
U90926	G	A	5: 92,357,879 (GRCm39)	P91S	probably benign	Het
Utp20	G	T	10: 88,582,796 (GRCm39)	H2780Q	probably benign	Het
Vmn1r215	T	G	13: 23,260,697 (GRCm39)	F246V	probably damaging	Het
Vmn2r72	A	G	7: 85,400,338 (GRCm39)	L237S	probably damaging	Het
Washc5	A	G	15: 59,215,929 (GRCm39)	S817P	probably damaging	Het
Zbtb24	A	G	10: 41,332,614 (GRCm39)		probably null	Het
Zfp212	G	A	6: 47,903,796 (GRCm39)	R127H	probably damaging	Het
Zfp268	C	A	4: 145,348,904 (GRCm39)	Q114K	probably benign	Het
Zfp740	G	T	15: 102,116,714 (GRCm39)		probably null	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
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'- AACTGAGGTCTTGGAGCCAC -3'
(R):5'- GCTTACTGGCTCCTTGCATG -3'

Sequencing Primer
(F):5'- TCTTGGAGCCACGAGGAATG -3'
(R):5'- TGCATGCCAGCTCCCTG -3'

Posted On

2016-05-10