Incidental Mutation 'R6573:Cstf2t'
| ID |
523333 |
| 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 |
044697-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.426)
|
| Stock # |
R6573 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
31060241-31063992 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31061180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 239
(M239V)
|
| 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: M239V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000093831
Gene: ENSMUSG00000053536
AA Change: M239V
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam5 |
A |
G |
7: 17,447,372 (GRCm39) |
M1V |
probably null |
Het |
| Clstn1 |
A |
G |
4: 149,728,146 (GRCm39) |
T605A |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,380,838 (GRCm39) |
R1929W |
probably damaging |
Het |
| Edf1 |
G |
T |
2: 25,451,875 (GRCm39) |
R133L |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,971,461 (GRCm39) |
Y129F |
possibly damaging |
Het |
| Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
| Fbxo34 |
A |
T |
14: 47,767,124 (GRCm39) |
L212F |
possibly damaging |
Het |
| Flacc1 |
A |
G |
1: 58,706,003 (GRCm39) |
F289L |
probably benign |
Het |
| Gas2l3 |
C |
A |
10: 89,258,072 (GRCm39) |
|
probably null |
Het |
| Gfod1 |
C |
T |
13: 43,353,841 (GRCm39) |
S378N |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,294,536 (GRCm39) |
S288P |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,283 (GRCm39) |
T72S |
probably benign |
Het |
| Hyal5 |
T |
C |
6: 24,891,551 (GRCm39) |
V455A |
probably damaging |
Het |
| Megf9 |
A |
T |
4: 70,406,409 (GRCm39) |
C252* |
probably null |
Het |
| Mrgprg |
T |
C |
7: 143,318,333 (GRCm39) |
K260E |
possibly damaging |
Het |
| Nmi |
T |
A |
2: 51,840,081 (GRCm39) |
K220M |
possibly damaging |
Het |
| Nutm1 |
A |
C |
2: 112,081,388 (GRCm39) |
|
probably null |
Het |
| Or2ag1b |
A |
T |
7: 106,288,670 (GRCm39) |
D89E |
probably benign |
Het |
| Or8k16 |
C |
T |
2: 85,520,343 (GRCm39) |
S190L |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
| Perm1 |
C |
A |
4: 156,303,130 (GRCm39) |
A558D |
probably damaging |
Het |
| Pgpep1 |
A |
G |
8: 71,103,265 (GRCm39) |
I203T |
probably benign |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,521 (GRCm39) |
G1342C |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,522 (GRCm39) |
G1342V |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,106 (GRCm39) |
I512F |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,400,110 (GRCm39) |
F183L |
probably damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,137,094 (GRCm39) |
R107G |
probably damaging |
Het |
| Spag5 |
C |
T |
11: 78,205,008 (GRCm39) |
Q598* |
probably null |
Het |
| Spata6 |
T |
A |
4: 111,636,476 (GRCm39) |
F256I |
probably damaging |
Het |
| Tnnt1 |
C |
A |
7: 4,517,333 (GRCm39) |
|
probably null |
Het |
| Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,027,647 (GRCm39) |
E413K |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,487 (GRCm39) |
F214L |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,899,996 (GRCm39) |
C636Y |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,037,703 (GRCm39) |
N917S |
probably damaging |
Het |
| Zfp317 |
T |
C |
9: 19,556,550 (GRCm39) |
S53P |
probably 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 |
|
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'- ACAGTTGGCGTATGCTTTGC -3'
(R):5'- ACTTGTGGCTGCATTGCTC -3'
Sequencing Primer
(F):5'- TGGTGATGAGAATCATGGATCC -3'
(R):5'- TCCTCCTGGAGTTAAGGAACCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation