Incidental Mutation 'R2317:Cwf19l1'
| ID |
245545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cwf19l1
|
| Ensembl Gene |
ENSMUSG00000025200 |
| Gene Name |
CWF19 like cell cycle control factor 1 |
| Synonyms |
2610528C06Rik |
| MMRRC Submission |
040312-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R2317 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
44097076-44124315 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 44120597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 39
(L39V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026218
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026218]
|
| AlphaFold |
Q8CI33 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026218
AA Change: L39V
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026218
Gene: ENSMUSG00000025200
AA Change: L39V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CwfJ_C_1
|
314 |
433 |
5.6e-37 |
PFAM |
|
Pfam:CwfJ_C_2
|
439 |
534 |
2.1e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc102a |
T |
C |
8: 95,634,957 (GRCm39) |
D327G |
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cfap126 |
A |
G |
1: 170,953,700 (GRCm39) |
D134G |
possibly damaging |
Het |
| Cript |
T |
C |
17: 87,335,139 (GRCm39) |
L19P |
probably benign |
Het |
| Eif2b4 |
T |
C |
5: 31,348,920 (GRCm39) |
|
probably null |
Het |
| Esp16 |
A |
G |
17: 39,850,738 (GRCm39) |
N39S |
probably benign |
Het |
| Fbxo30 |
A |
G |
10: 11,166,078 (GRCm39) |
N267D |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,208,607 (GRCm39) |
|
probably null |
Het |
| Gp1ba |
A |
G |
11: 70,531,473 (GRCm39) |
|
probably benign |
Het |
| Klf12 |
C |
T |
14: 100,179,503 (GRCm39) |
R279Q |
probably benign |
Het |
| Lats1 |
C |
T |
10: 7,567,540 (GRCm39) |
Q104* |
probably null |
Het |
| Myrfl |
A |
G |
10: 116,675,289 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,325,189 (GRCm39) |
I963T |
probably damaging |
Het |
| Neurod6 |
A |
G |
6: 55,655,906 (GRCm39) |
Y244H |
probably damaging |
Het |
| Nodal |
T |
C |
10: 61,254,212 (GRCm39) |
M45T |
possibly damaging |
Het |
| Nuggc |
A |
G |
14: 65,861,591 (GRCm39) |
E479G |
possibly damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,501,842 (GRCm39) |
D467G |
probably benign |
Het |
| Pnmt |
C |
A |
11: 98,277,677 (GRCm39) |
Q74K |
probably benign |
Het |
| Slc25a36 |
G |
A |
9: 96,961,235 (GRCm39) |
T267I |
probably damaging |
Het |
| Slc35e3 |
A |
G |
10: 117,580,804 (GRCm39) |
S167P |
probably damaging |
Het |
| Sprr2f |
C |
A |
3: 92,273,390 (GRCm39) |
P63H |
unknown |
Het |
| Stt3a |
T |
C |
9: 36,659,371 (GRCm39) |
I323V |
probably benign |
Het |
| Tedc2 |
A |
G |
17: 24,435,358 (GRCm39) |
S344P |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,245,514 (GRCm39) |
D3722G |
probably damaging |
Het |
| Zfp35 |
T |
C |
18: 24,136,555 (GRCm39) |
Y300H |
probably damaging |
Het |
| Zfp959 |
A |
G |
17: 56,204,326 (GRCm39) |
D121G |
possibly damaging |
Het |
|
| Other mutations in Cwf19l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00923:Cwf19l1
|
APN |
19 |
44,119,849 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01691:Cwf19l1
|
APN |
19 |
44,109,311 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02427:Cwf19l1
|
APN |
19 |
44,121,462 (GRCm39) |
nonsense |
probably null |
|
|
IGL03234:Cwf19l1
|
APN |
19 |
44,115,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03236:Cwf19l1
|
APN |
19 |
44,115,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03275:Cwf19l1
|
APN |
19 |
44,111,696 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0068:Cwf19l1
|
UTSW |
19 |
44,119,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0068:Cwf19l1
|
UTSW |
19 |
44,119,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0486:Cwf19l1
|
UTSW |
19 |
44,103,129 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1820:Cwf19l1
|
UTSW |
19 |
44,115,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2418:Cwf19l1
|
UTSW |
19 |
44,119,911 (GRCm39) |
missense |
probably benign |
|
|
R2438:Cwf19l1
|
UTSW |
19 |
44,099,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3796:Cwf19l1
|
UTSW |
19 |
44,103,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3850:Cwf19l1
|
UTSW |
19 |
44,119,937 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4518:Cwf19l1
|
UTSW |
19 |
44,121,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Cwf19l1
|
UTSW |
19 |
44,103,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5402:Cwf19l1
|
UTSW |
19 |
44,121,524 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5587:Cwf19l1
|
UTSW |
19 |
44,109,316 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5785:Cwf19l1
|
UTSW |
19 |
44,110,380 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6354:Cwf19l1
|
UTSW |
19 |
44,115,912 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6652:Cwf19l1
|
UTSW |
19 |
44,103,138 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7365:Cwf19l1
|
UTSW |
19 |
44,120,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:Cwf19l1
|
UTSW |
19 |
44,098,989 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7562:Cwf19l1
|
UTSW |
19 |
44,117,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Cwf19l1
|
UTSW |
19 |
44,111,653 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9068:Cwf19l1
|
UTSW |
19 |
44,124,274 (GRCm39) |
unclassified |
probably benign |
|
|
R9235:Cwf19l1
|
UTSW |
19 |
44,113,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9695:Cwf19l1
|
UTSW |
19 |
44,101,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGCCAAGAGAGAAATCTTC -3'
(R):5'- TCTGCCTTCTGAAAGCTCG -3'
Sequencing Primer
(F):5'- TCTTCAGCAACTAATACGTGAGAAAC -3'
(R):5'- CCCTCAATTTGGAGTGATTGACAGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation