Incidental Mutation 'R1536:Cwc27'
| ID |
169547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cwc27
|
| Ensembl Gene |
ENSMUSG00000021715 |
| Gene Name |
CWC27 spliceosome-associated protein |
| Synonyms |
NY-CO-10, 3110009E13Rik, Sdccag10 |
| MMRRC Submission |
039575-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1536 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
104767648-104953649 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104933814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 236
(L236P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022228]
|
| AlphaFold |
Q3TKY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022228
AA Change: L236P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022228
Gene: ENSMUSG00000021715
AA Change: L236P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
14 |
166 |
3.4e-47 |
PFAM |
|
low complexity region
|
176 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
217 |
N/A |
INTRINSIC |
|
coiled coil region
|
309 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
469 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147514
|
| Meta Mutation Damage Score |
0.2051 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice exhibit reduced viability. Surviors after birth show signs of growth retardation and retinal depigmentation, along with numerous neurological, immunological, and blood chemistry abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,118,524 (GRCm39) |
I3F |
probably benign |
Het |
| 4930590J08Rik |
A |
G |
6: 91,894,016 (GRCm39) |
N211S |
probably benign |
Het |
| A2ml1 |
A |
T |
6: 128,524,196 (GRCm39) |
Y1145* |
probably null |
Het |
| Abca7 |
A |
G |
10: 79,850,064 (GRCm39) |
D1972G |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 59,185,687 (GRCm39) |
D1187V |
probably damaging |
Het |
| Adcy6 |
G |
C |
15: 98,497,888 (GRCm39) |
I421M |
probably damaging |
Het |
| Afap1 |
C |
A |
5: 36,131,835 (GRCm39) |
H387Q |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 131,516,302 (GRCm39) |
|
probably benign |
Het |
| Cbll1 |
T |
C |
12: 31,537,855 (GRCm39) |
D300G |
probably damaging |
Het |
| Cd200r4 |
A |
T |
16: 44,653,412 (GRCm39) |
T61S |
possibly damaging |
Het |
| Chmp4c |
G |
T |
3: 10,454,744 (GRCm39) |
V207L |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,976,321 (GRCm39) |
T413A |
possibly damaging |
Het |
| Cox7a2 |
T |
A |
9: 79,665,863 (GRCm39) |
|
probably null |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,299,453 (GRCm39) |
|
probably benign |
Het |
| Ear1 |
T |
A |
14: 44,056,583 (GRCm39) |
H95L |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,517,732 (GRCm39) |
H898L |
probably benign |
Het |
| Entpd5 |
G |
A |
12: 84,429,069 (GRCm39) |
R321* |
probably null |
Het |
| Ercc6l2 |
C |
A |
13: 63,972,685 (GRCm39) |
N177K |
possibly damaging |
Het |
| Ergic1 |
T |
C |
17: 26,860,680 (GRCm39) |
|
probably null |
Het |
| Erich6 |
A |
T |
3: 58,534,019 (GRCm39) |
I336N |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Galnt3 |
A |
T |
2: 65,914,550 (GRCm39) |
D622E |
probably damaging |
Het |
| Gjd4 |
T |
A |
18: 9,280,569 (GRCm39) |
T170S |
probably damaging |
Het |
| Gm5611 |
G |
A |
9: 16,941,903 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc5 |
T |
A |
14: 115,636,662 (GRCm39) |
N448K |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Maco1 |
A |
G |
4: 134,531,818 (GRCm39) |
V617A |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,978,271 (GRCm39) |
T338A |
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,272,864 (GRCm39) |
S94T |
probably benign |
Het |
| Muc3a |
A |
T |
5: 137,244,538 (GRCm39) |
S205T |
unknown |
Het |
| Nav2 |
C |
A |
7: 49,195,682 (GRCm39) |
D1019E |
probably damaging |
Het |
| Neurl4 |
T |
A |
11: 69,794,252 (GRCm39) |
L236* |
probably null |
Het |
| Or13c25 |
A |
G |
4: 52,911,260 (GRCm39) |
V178A |
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,546,093 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
T |
C |
19: 46,059,965 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
T |
A |
4: 104,932,647 (GRCm39) |
N67I |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,175,695 (GRCm39) |
Y508F |
probably benign |
Het |
| Prx |
A |
G |
7: 27,216,683 (GRCm39) |
M534V |
probably damaging |
Het |
| Rps6kc1 |
C |
T |
1: 190,603,965 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,977,250 (GRCm39) |
Y628C |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,069,196 (GRCm39) |
Q448L |
probably damaging |
Het |
| Stk35 |
T |
C |
2: 129,653,155 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,713,836 (GRCm39) |
R234S |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,101 (GRCm39) |
V114A |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,055,975 (GRCm39) |
M49T |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,511,545 (GRCm39) |
L235P |
possibly damaging |
Het |
| Trim43b |
A |
T |
9: 88,967,411 (GRCm39) |
C407* |
probably null |
Het |
| Txndc17 |
C |
A |
11: 72,098,533 (GRCm39) |
F28L |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,177,649 (GRCm39) |
R452G |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,538 (GRCm39) |
D387V |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,875,712 (GRCm39) |
I2699T |
probably damaging |
Het |
| Zfp944 |
G |
T |
17: 22,558,697 (GRCm39) |
Y183* |
probably null |
Het |
|
| Other mutations in Cwc27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01955:Cwc27
|
APN |
13 |
104,944,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02240:Cwc27
|
APN |
13 |
104,943,151 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02398:Cwc27
|
APN |
13 |
104,940,762 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02620:Cwc27
|
APN |
13 |
104,938,714 (GRCm39) |
splice site |
probably benign |
|
|
IGL03213:Cwc27
|
APN |
13 |
104,932,911 (GRCm39) |
splice site |
probably benign |
|
|
pam1
|
UTSW |
13 |
104,797,865 (GRCm39) |
nonsense |
probably null |
|
|
R0375:Cwc27
|
UTSW |
13 |
104,944,331 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0483:Cwc27
|
UTSW |
13 |
104,947,724 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0534:Cwc27
|
UTSW |
13 |
104,768,124 (GRCm39) |
missense |
unknown |
|
|
R0550:Cwc27
|
UTSW |
13 |
104,941,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Cwc27
|
UTSW |
13 |
104,797,865 (GRCm39) |
nonsense |
probably null |
|
|
R0563:Cwc27
|
UTSW |
13 |
104,797,865 (GRCm39) |
nonsense |
probably null |
|
|
R0564:Cwc27
|
UTSW |
13 |
104,797,865 (GRCm39) |
nonsense |
probably null |
|
|
R0972:Cwc27
|
UTSW |
13 |
104,797,865 (GRCm39) |
nonsense |
probably null |
|
|
R1546:Cwc27
|
UTSW |
13 |
104,938,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Cwc27
|
UTSW |
13 |
104,929,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1934:Cwc27
|
UTSW |
13 |
104,768,184 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2159:Cwc27
|
UTSW |
13 |
104,940,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2249:Cwc27
|
UTSW |
13 |
104,768,130 (GRCm39) |
missense |
unknown |
|
|
R2252:Cwc27
|
UTSW |
13 |
104,768,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2394:Cwc27
|
UTSW |
13 |
104,932,942 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2698:Cwc27
|
UTSW |
13 |
104,943,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3899:Cwc27
|
UTSW |
13 |
104,929,023 (GRCm39) |
nonsense |
probably null |
|
|
R5121:Cwc27
|
UTSW |
13 |
104,940,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6317:Cwc27
|
UTSW |
13 |
104,940,769 (GRCm39) |
nonsense |
probably null |
|
|
R6763:Cwc27
|
UTSW |
13 |
104,947,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7187:Cwc27
|
UTSW |
13 |
104,797,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7958:Cwc27
|
UTSW |
13 |
104,941,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8465:Cwc27
|
UTSW |
13 |
104,940,776 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8465:Cwc27
|
UTSW |
13 |
104,940,772 (GRCm39) |
missense |
probably benign |
|
|
R8466:Cwc27
|
UTSW |
13 |
104,940,776 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8466:Cwc27
|
UTSW |
13 |
104,940,772 (GRCm39) |
missense |
probably benign |
|
|
R8483:Cwc27
|
UTSW |
13 |
104,940,776 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8483:Cwc27
|
UTSW |
13 |
104,940,772 (GRCm39) |
missense |
probably benign |
|
|
R8485:Cwc27
|
UTSW |
13 |
104,940,776 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8485:Cwc27
|
UTSW |
13 |
104,940,772 (GRCm39) |
missense |
probably benign |
|
|
R9320:Cwc27
|
UTSW |
13 |
104,933,799 (GRCm39) |
missense |
probably benign |
|
|
R9710:Cwc27
|
UTSW |
13 |
104,943,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTCAGCAAGGCACTATGGAATTAAA -3'
(R):5'- TCTGTGGGTCGTACAAGTTAGTCAGT -3'
Sequencing Primer
(F):5'- CAGTTTCTGGTAATCAGACTAGCC -3'
(R):5'- gcctaaaatcccagcacgag -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation