Incidental Mutation 'IGL02225:Cwh43'
| ID |
285305 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cwh43
|
| Ensembl Gene |
ENSMUSG00000029154 |
| Gene Name |
cell wall biogenesis 43 C-terminal homolog |
| Synonyms |
C130090K23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL02225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
73563418-73610778 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73578910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 306
(Y306H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031040]
[ENSMUST00000065543]
|
| AlphaFold |
Q91YL7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031040
AA Change: Y392H
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031040
Gene: ENSMUSG00000029154
AA Change: Y392H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
transmembrane domain
|
91 |
113 |
N/A |
INTRINSIC |
|
transmembrane domain
|
123 |
140 |
N/A |
INTRINSIC |
|
transmembrane domain
|
191 |
213 |
N/A |
INTRINSIC |
|
transmembrane domain
|
236 |
258 |
N/A |
INTRINSIC |
|
transmembrane domain
|
275 |
297 |
N/A |
INTRINSIC |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
transmembrane domain
|
351 |
368 |
N/A |
INTRINSIC |
|
transmembrane domain
|
395 |
412 |
N/A |
INTRINSIC |
|
Pfam:Exo_endo_phos
|
435 |
580 |
5.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065543
AA Change: Y306H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069563
Gene: ENSMUSG00000029154
AA Change: Y306H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
transmembrane domain
|
91 |
113 |
N/A |
INTRINSIC |
|
transmembrane domain
|
123 |
140 |
N/A |
INTRINSIC |
|
transmembrane domain
|
191 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
257 |
N/A |
INTRINSIC |
|
transmembrane domain
|
260 |
282 |
N/A |
INTRINSIC |
|
transmembrane domain
|
309 |
326 |
N/A |
INTRINSIC |
|
Pfam:Exo_endo_phos
|
345 |
494 |
4.7e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
A |
G |
7: 43,906,165 (GRCm39) |
|
probably null |
Het |
| Adgrf4 |
C |
A |
17: 42,974,269 (GRCm39) |
|
probably null |
Het |
| Aqp9 |
A |
T |
9: 71,037,829 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
A |
G |
6: 124,518,293 (GRCm39) |
W8R |
probably benign |
Het |
| Cep43 |
T |
G |
17: 8,401,251 (GRCm39) |
D257E |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,800,616 (GRCm39) |
I345T |
probably benign |
Het |
| Cyp4a32 |
A |
T |
4: 115,467,700 (GRCm39) |
H228L |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,630 (GRCm39) |
L607P |
probably damaging |
Het |
| Dlg3 |
A |
G |
X: 99,850,794 (GRCm39) |
K232R |
probably benign |
Het |
| Fig4 |
A |
G |
10: 41,132,448 (GRCm39) |
S453P |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,858,743 (GRCm39) |
L1556P |
probably damaging |
Het |
| Gjb2 |
T |
C |
14: 57,337,645 (GRCm39) |
K188E |
probably damaging |
Het |
| Gp1bb |
C |
A |
16: 18,439,650 (GRCm39) |
W148L |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,885,358 (GRCm39) |
T375M |
probably damaging |
Het |
| Hnf1b |
T |
C |
11: 83,752,611 (GRCm39) |
L82P |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,262,200 (GRCm39) |
V333A |
probably damaging |
Het |
| Magi1 |
G |
T |
6: 93,671,007 (GRCm39) |
R1069S |
probably damaging |
Het |
| Myh15 |
A |
T |
16: 48,911,526 (GRCm39) |
E319D |
probably benign |
Het |
| Myl4 |
A |
G |
11: 104,471,228 (GRCm39) |
I42V |
probably benign |
Het |
| Obsl1 |
A |
T |
1: 75,480,442 (GRCm39) |
V394E |
probably damaging |
Het |
| Or1e1c |
T |
A |
11: 73,265,904 (GRCm39) |
F110I |
probably damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,373 (GRCm39) |
I227F |
probably damaging |
Het |
| Or5w14 |
C |
T |
2: 87,541,743 (GRCm39) |
C169Y |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,225,308 (GRCm39) |
R1732K |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,365,310 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,786,327 (GRCm39) |
K972E |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,507,264 (GRCm39) |
T227A |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,359,614 (GRCm39) |
|
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,098,733 (GRCm39) |
V163E |
probably damaging |
Het |
| Snx1 |
G |
A |
9: 66,016,903 (GRCm39) |
P56L |
probably benign |
Het |
| Snx14 |
G |
A |
9: 88,295,577 (GRCm39) |
T196I |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,461,268 (GRCm39) |
F3570L |
probably benign |
Het |
| Tbrg4 |
C |
A |
11: 6,574,094 (GRCm39) |
V43F |
probably damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,877,408 (GRCm39) |
I176T |
probably benign |
Het |
| Trbv20 |
T |
A |
6: 41,165,241 (GRCm39) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,463,197 (GRCm39) |
V710D |
probably benign |
Het |
| Ugt2b35 |
T |
C |
5: 87,155,264 (GRCm39) |
|
probably benign |
Het |
| Zbed5 |
C |
T |
5: 129,930,974 (GRCm39) |
|
probably null |
Het |
| Zc3hav1 |
T |
C |
6: 38,317,276 (GRCm39) |
Y108C |
probably damaging |
Het |
|
| Other mutations in Cwh43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00787:Cwh43
|
APN |
5 |
73,578,832 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0115:Cwh43
|
UTSW |
5 |
73,575,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0423:Cwh43
|
UTSW |
5 |
73,574,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0481:Cwh43
|
UTSW |
5 |
73,575,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0786:Cwh43
|
UTSW |
5 |
73,565,526 (GRCm39) |
nonsense |
probably null |
|
|
R1635:Cwh43
|
UTSW |
5 |
73,591,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Cwh43
|
UTSW |
5 |
73,565,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1784:Cwh43
|
UTSW |
5 |
73,565,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1927:Cwh43
|
UTSW |
5 |
73,610,417 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2070:Cwh43
|
UTSW |
5 |
73,578,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Cwh43
|
UTSW |
5 |
73,578,873 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2136:Cwh43
|
UTSW |
5 |
73,572,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2517:Cwh43
|
UTSW |
5 |
73,578,886 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2964:Cwh43
|
UTSW |
5 |
73,565,679 (GRCm39) |
splice site |
probably benign |
|
|
R3713:Cwh43
|
UTSW |
5 |
73,595,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4291:Cwh43
|
UTSW |
5 |
73,569,275 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4333:Cwh43
|
UTSW |
5 |
73,598,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4869:Cwh43
|
UTSW |
5 |
73,586,016 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5071:Cwh43
|
UTSW |
5 |
73,581,256 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5309:Cwh43
|
UTSW |
5 |
73,574,110 (GRCm39) |
missense |
probably benign |
|
|
R5451:Cwh43
|
UTSW |
5 |
73,589,256 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5471:Cwh43
|
UTSW |
5 |
73,565,574 (GRCm39) |
nonsense |
probably null |
|
|
R5601:Cwh43
|
UTSW |
5 |
73,575,283 (GRCm39) |
splice site |
probably null |
|
|
R5652:Cwh43
|
UTSW |
5 |
73,575,484 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5820:Cwh43
|
UTSW |
5 |
73,585,975 (GRCm39) |
nonsense |
probably null |
|
|
R5823:Cwh43
|
UTSW |
5 |
73,569,213 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6351:Cwh43
|
UTSW |
5 |
73,569,248 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7467:Cwh43
|
UTSW |
5 |
73,569,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7583:Cwh43
|
UTSW |
5 |
73,591,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7788:Cwh43
|
UTSW |
5 |
73,572,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8070:Cwh43
|
UTSW |
5 |
73,578,806 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8282:Cwh43
|
UTSW |
5 |
73,591,572 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8471:Cwh43
|
UTSW |
5 |
73,591,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Cwh43
|
UTSW |
5 |
73,598,702 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9462:Cwh43
|
UTSW |
5 |
73,591,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9638:Cwh43
|
UTSW |
5 |
73,565,486 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9651:Cwh43
|
UTSW |
5 |
73,572,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9652:Cwh43
|
UTSW |
5 |
73,572,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9660:Cwh43
|
UTSW |
5 |
73,565,629 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9728:Cwh43
|
UTSW |
5 |
73,565,629 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Z1177:Cwh43
|
UTSW |
5 |
73,587,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation