Incidental Mutation 'R7958:Cwc27'
ID |
649966 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cwc27
|
Ensembl Gene |
ENSMUSG00000021715 |
Gene Name |
CWC27 spliceosome-associated protein |
Synonyms |
NY-CO-10, 3110009E13Rik, Sdccag10 |
MMRRC Submission |
046002-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7958 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
104767648-104953649 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104941472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 150
(D150G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022228]
[ENSMUST00000154165]
|
AlphaFold |
Q3TKY6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022228
AA Change: D150G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000022228 Gene: ENSMUSG00000021715 AA Change: D150G
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 |
probably benign
Transcript: ENSMUST00000154165
|
SMART Domains |
Protein: ENSMUSP00000119076 Gene: ENSMUSG00000021715
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
14 |
82 |
1.3e-24 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (55/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
T |
6: 91,911,464 (GRCm39) |
T571S |
probably benign |
Het |
Abca8a |
A |
G |
11: 109,922,498 (GRCm39) |
Y1362H |
probably damaging |
Het |
Aldh1l2 |
C |
T |
10: 83,356,202 (GRCm39) |
V63I |
probably benign |
Het |
Alg8 |
T |
C |
7: 97,036,128 (GRCm39) |
C340R |
possibly damaging |
Het |
BC028528 |
T |
C |
3: 95,796,224 (GRCm39) |
D46G |
probably benign |
Het |
Cdh5 |
A |
T |
8: 104,839,649 (GRCm39) |
H40L |
probably benign |
Het |
Cul3 |
T |
C |
1: 80,249,274 (GRCm39) |
T666A |
probably benign |
Het |
Cyp2a12 |
T |
A |
7: 26,728,677 (GRCm39) |
N49K |
probably benign |
Het |
Dhrs4 |
T |
C |
14: 55,725,078 (GRCm39) |
L191P |
probably damaging |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Fam171a1 |
T |
A |
2: 3,179,298 (GRCm39) |
S41R |
probably damaging |
Het |
Fam186a |
A |
T |
15: 99,841,189 (GRCm39) |
L1685H |
probably damaging |
Het |
Fgfr1 |
G |
T |
8: 26,022,358 (GRCm39) |
W2L |
probably benign |
Het |
Fpr-rs6 |
T |
A |
17: 20,402,705 (GRCm39) |
I219F |
probably damaging |
Het |
Gm28360 |
T |
A |
1: 117,781,409 (GRCm39) |
C133* |
probably null |
Het |
Herc1 |
A |
G |
9: 66,393,475 (GRCm39) |
D4118G |
probably damaging |
Het |
Hhatl |
A |
G |
9: 121,613,652 (GRCm39) |
|
probably null |
Het |
Inpp4b |
T |
A |
8: 82,696,218 (GRCm39) |
L384H |
probably damaging |
Het |
Klhl12 |
G |
A |
1: 134,395,455 (GRCm39) |
R139K |
probably benign |
Het |
Klrg1 |
T |
A |
6: 122,248,331 (GRCm39) |
*189C |
probably null |
Het |
Krtap19-4 |
A |
G |
16: 88,681,833 (GRCm39) |
F41S |
unknown |
Het |
Lifr |
T |
C |
15: 7,211,478 (GRCm39) |
V672A |
possibly damaging |
Het |
Lrrc25 |
A |
G |
8: 71,070,497 (GRCm39) |
T93A |
possibly damaging |
Het |
Map7 |
T |
A |
10: 20,105,575 (GRCm39) |
S9T |
unknown |
Het |
Mycbp2 |
A |
T |
14: 103,367,400 (GRCm39) |
F4281L |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,612,173 (GRCm39) |
I162V |
probably benign |
Het |
Myo18a |
T |
C |
11: 77,732,383 (GRCm39) |
V1293A |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,340,742 (GRCm39) |
S1993P |
possibly damaging |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Oas2 |
C |
T |
5: 120,886,831 (GRCm39) |
E112K |
probably benign |
Het |
Oosp3 |
A |
T |
19: 11,682,820 (GRCm39) |
I163F |
probably benign |
Het |
Or8a1 |
A |
G |
9: 37,641,682 (GRCm39) |
F199S |
probably damaging |
Het |
Phkb |
G |
T |
8: 86,748,292 (GRCm39) |
E710D |
probably benign |
Het |
Plekhg4 |
A |
T |
8: 106,103,281 (GRCm39) |
D318V |
possibly damaging |
Het |
Potefam1 |
T |
C |
2: 111,000,670 (GRCm39) |
E183G |
unknown |
Het |
Ptprj |
T |
C |
2: 90,299,971 (GRCm39) |
I277V |
possibly damaging |
Het |
Ranbp17 |
A |
G |
11: 33,437,702 (GRCm39) |
S179P |
probably damaging |
Het |
Scaf8 |
G |
A |
17: 3,221,397 (GRCm39) |
V295M |
unknown |
Het |
Scn3a |
T |
A |
2: 65,336,537 (GRCm39) |
I690F |
probably damaging |
Het |
Serpinb1b |
A |
T |
13: 33,273,636 (GRCm39) |
K110N |
possibly damaging |
Het |
Sgsh |
T |
C |
11: 119,243,599 (GRCm39) |
N41S |
probably damaging |
Het |
Sh2d1b1 |
A |
G |
1: 170,110,704 (GRCm39) |
T67A |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,480,980 (GRCm39) |
L958M |
unknown |
Het |
Spg11 |
T |
A |
2: 121,923,426 (GRCm39) |
|
probably null |
Het |
Spo11 |
T |
A |
2: 172,825,815 (GRCm39) |
D84E |
probably benign |
Het |
Spta1 |
G |
A |
1: 174,001,956 (GRCm39) |
E29K |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,040,286 (GRCm39) |
V2310A |
probably benign |
Het |
Tbc1d30 |
C |
A |
10: 121,107,962 (GRCm39) |
R480L |
probably benign |
Het |
Tbpl2 |
A |
T |
2: 23,985,079 (GRCm39) |
|
probably null |
Het |
Tjp3 |
C |
T |
10: 81,118,828 (GRCm39) |
V69I |
possibly damaging |
Het |
Ube3b |
T |
C |
5: 114,539,484 (GRCm39) |
V425A |
probably benign |
Het |
Vmn1r151 |
A |
T |
7: 22,198,492 (GRCm39) |
S204R |
probably damaging |
Het |
Vmn1r42 |
A |
T |
6: 89,822,059 (GRCm39) |
I170N |
probably damaging |
Het |
Vmn1r65 |
A |
G |
7: 6,011,254 (GRCm39) |
S327P |
probably benign |
Het |
Vmn2r104 |
T |
C |
17: 20,262,988 (GRCm39) |
I158V |
probably benign |
Het |
Wdr49 |
T |
A |
3: 75,338,454 (GRCm39) |
M21L |
probably benign |
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 |
|
R1536:Cwc27
|
UTSW |
13 |
104,933,814 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AATCTGCATCAGAAACTGTGC -3'
(R):5'- GTGTGCTTCACCATCATTGTTAAC -3'
Sequencing Primer
(F):5'- TTAAATGGCGCCACACAG -3'
(R):5'- CACCATCATTGTTAACTGCTTATTC -3'
|
Posted On |
2020-09-15 |