Mutagenetix > Incidental Mutation

Incidental Mutation 'R8317:Cstf2t'

641785

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

067721-MU

Accession Numbers

Essential gene?

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

Stock #

R8317 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31060241-31063992 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31061648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 395 (A395T)

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: A395T

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000093831
Gene: ENSMUSG00000053536
AA Change: A395T

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: 99.7%
20x: 99.0%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,723,236 (GRCm39)	V621M	probably damaging	Het
Adipor1	C	T	1: 134,355,905 (GRCm39)	R235W	probably benign	Het
Agbl1	T	A	7: 76,071,929 (GRCm39)	M594K	unknown	Het
Ang2	A	G	14: 51,433,349 (GRCm39)	V11A	probably benign	Het
Ccl25	A	G	8: 4,404,138 (GRCm39)	N80S	probably benign	Het
Cd19	A	T	7: 126,012,615 (GRCm39)	C259*	probably null	Het
Cd209b	A	T	8: 3,972,018 (GRCm39)	I177N	probably damaging	Het
Cdc20	C	A	4: 118,294,323 (GRCm39)		probably benign	Het
Cdh23	A	T	10: 60,147,037 (GRCm39)		probably null	Het
Cdh23	G	A	10: 60,272,568 (GRCm39)	R536W	probably damaging	Het
Cfap299	A	C	5: 98,885,459 (GRCm39)	H122P	probably benign	Het
Chd6	T	C	2: 160,832,241 (GRCm39)	D977G	probably damaging	Het
Cilk1	T	A	9: 78,060,933 (GRCm39)	V193E	probably damaging	Het
Csl	T	G	10: 99,594,900 (GRCm39)	H55P	probably damaging	Het
Dhx58	A	T	11: 100,594,388 (GRCm39)	I101N	probably damaging	Het
Dlg5	A	C	14: 24,241,298 (GRCm39)	S200A	probably damaging	Het
Epb41	C	A	4: 131,684,961 (GRCm39)	G86V		Het
Fat4	T	C	3: 39,012,659 (GRCm39)	V2318A	possibly damaging	Het
Fbxo32	A	T	15: 58,068,626 (GRCm39)	F119I	probably damaging	Het
Flacc1	T	C	1: 58,715,707 (GRCm39)	K170E	possibly damaging	Het
Fndc1	A	T	17: 8,019,720 (GRCm39)	L153*	probably null	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 141,827,553 (GRCm39)		probably benign	Het
Gpr63	A	T	4: 25,008,223 (GRCm39)	T316S	probably damaging	Het
Il16	T	C	7: 83,304,538 (GRCm39)	T665A	probably benign	Het
Lama5	T	C	2: 179,848,784 (GRCm39)	N272S	probably damaging	Het
Map3k1	T	C	13: 111,894,696 (GRCm39)	Y660C	probably damaging	Het
Mbd3l1	C	A	9: 18,396,117 (GRCm39)	L81I	probably benign	Het
Morc3	C	A	16: 93,659,417 (GRCm39)	Q442K	probably benign	Het
Muc16	G	A	9: 18,569,339 (GRCm39)	T1060I	unknown	Het
Myh11	T	A	16: 14,025,941 (GRCm39)	D1343V		Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Nbn	T	G	4: 15,970,893 (GRCm39)	L292W	probably damaging	Het
Ndufb11b	A	G	15: 81,864,978 (GRCm39)	Y73C	probably damaging	Het
Nebl	A	G	2: 17,355,568 (GRCm39)	M195T	possibly damaging	Het
Net1	T	C	13: 3,957,856 (GRCm39)	K66E	possibly damaging	Het
Nod1	T	C	6: 54,920,425 (GRCm39)	Y631C	probably damaging	Het
Nxf1	A	G	19: 8,748,407 (GRCm39)	H12R	probably benign	Het
Onecut3	T	C	10: 80,331,161 (GRCm39)	L107P	unknown	Het
Opa1	T	G	16: 29,432,962 (GRCm39)	I512S	probably damaging	Het
P3h3	C	T	6: 124,832,116 (GRCm39)	G257R	probably damaging	Het
Pappa2	A	G	1: 158,592,530 (GRCm39)	C1616R	probably damaging	Het
Parn	T	G	16: 13,358,964 (GRCm39)	K593Q	probably damaging	Het
Pcare	A	C	17: 72,056,197 (GRCm39)	L1160R	probably benign	Het
Polr3g	T	C	13: 81,826,302 (GRCm39)	K173R	unknown	Het
Prcp	A	G	7: 92,524,598 (GRCm39)	T18A	probably benign	Het
Sash1	G	A	10: 8,605,150 (GRCm39)	T1080M	possibly damaging	Het
Skap2	A	G	6: 51,884,865 (GRCm39)		probably null	Het
Spmip9	C	A	6: 70,890,276 (GRCm39)	W172L	possibly damaging	Het
Srebf1	C	A	11: 60,091,483 (GRCm39)	S1014I	possibly damaging	Het
Stk32b	C	T	5: 37,612,319 (GRCm39)	E356K	probably damaging	Het
Tjp3	T	A	10: 81,116,324 (GRCm39)	T257S	probably benign	Het
Trf	A	G	9: 103,094,715 (GRCm39)	Y448H	probably damaging	Het
Tsnaxip1	G	C	8: 106,554,438 (GRCm39)	R7P	probably benign	Het
Vmn1r208	G	C	13: 22,956,947 (GRCm39)	I183M	probably benign	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het
Wdhd1	A	T	14: 47,500,994 (GRCm39)	H469Q	probably damaging	Het
Zbtb7a	G	C	10: 80,980,784 (GRCm39)	G326A	probably benign	Het
Zfp493	G	A	13: 67,931,958 (GRCm39)	R19H	probably benign	Het
Zfp932	A	T	5: 110,156,922 (GRCm39)	K207*	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
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

Predicted Primers

PCR Primer
(F):5'- TCGAGGACTACTGGGAGATG -3'
(R):5'- TCATCGGACCTCTGGAACTAG -3'

Sequencing Primer
(F):5'- GATGCTCCAAATGACCCACGTG -3'
(R):5'- ACCTCTGGAACTAGGGCCAG -3'

Posted On

2020-07-28