Incidental Mutation 'R8471:Cwh43'
| ID |
657024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cwh43
|
| Ensembl Gene |
ENSMUSG00000029154 |
| Gene Name |
cell wall biogenesis 43 C-terminal homolog |
| Synonyms |
C130090K23Rik |
| MMRRC Submission |
067915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R8471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
73563418-73610778 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73591644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 493
(L493Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031040]
[ENSMUST00000065543]
|
| AlphaFold |
Q91YL7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031040
AA Change: L579Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031040
Gene: ENSMUSG00000029154
AA Change: L579Q
| 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: L493Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069563
Gene: ENSMUSG00000029154
AA Change: L493Q
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
T |
A |
1: 57,422,223 (GRCm39) |
C200S |
probably damaging |
Het |
| Abca1 |
G |
A |
4: 53,044,187 (GRCm39) |
H1812Y |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,594,591 (GRCm39) |
D4141V |
probably benign |
Het |
| Arhgef38 |
A |
T |
3: 132,940,472 (GRCm39) |
V38E |
probably damaging |
Het |
| Arl15 |
T |
A |
13: 114,037,632 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
C |
T |
1: 46,138,650 (GRCm39) |
H231Y |
possibly damaging |
Het |
| Eif2d |
C |
A |
1: 131,092,155 (GRCm39) |
Q309K |
probably benign |
Het |
| Epop |
A |
G |
11: 97,520,073 (GRCm39) |
V12A |
possibly damaging |
Het |
| Fkbp5 |
C |
T |
17: 28,634,943 (GRCm39) |
V189I |
probably benign |
Het |
| Ikzf2 |
T |
C |
1: 69,578,499 (GRCm39) |
M343V |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,407,192 (GRCm39) |
L1469* |
probably null |
Het |
| Man2b2 |
A |
T |
5: 36,979,183 (GRCm39) |
W286R |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,358,153 (GRCm39) |
Q1028K |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,013,885 (GRCm39) |
D455V |
possibly damaging |
Het |
| Or10ag60 |
A |
G |
2: 87,437,989 (GRCm39) |
R86G |
probably damaging |
Het |
| Or10d5b |
A |
G |
9: 39,885,901 (GRCm39) |
S73P |
unknown |
Het |
| Or1e32 |
A |
T |
11: 73,705,309 (GRCm39) |
F200I |
probably benign |
Het |
| Or5af1 |
A |
G |
11: 58,722,597 (GRCm39) |
M206V |
probably benign |
Het |
| Pcdh12 |
G |
A |
18: 38,415,308 (GRCm39) |
P606S |
probably benign |
Het |
| Plec |
A |
G |
15: 76,070,620 (GRCm39) |
V894A |
probably damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,021,901 (GRCm39) |
N333S |
probably benign |
Het |
| Ptger4 |
A |
T |
15: 5,271,800 (GRCm39) |
M273K |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,464,411 (GRCm39) |
D1372G |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,575,245 (GRCm39) |
K571R |
probably benign |
Het |
| Rarb |
T |
A |
14: 16,548,456 (GRCm38) |
|
probably benign |
Het |
| Ros1 |
A |
G |
10: 51,997,078 (GRCm39) |
V1198A |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,484,125 (GRCm39) |
V3879A |
probably damaging |
Het |
| Serpinb6d |
A |
T |
13: 33,848,137 (GRCm39) |
I34F |
probably damaging |
Het |
| Slc44a2 |
T |
G |
9: 21,253,265 (GRCm39) |
I62S |
probably null |
Het |
| Snx9 |
T |
A |
17: 5,940,365 (GRCm39) |
W39R |
probably damaging |
Het |
| Tbcb |
A |
T |
7: 29,931,100 (GRCm39) |
S7T |
probably benign |
Het |
| Ttc21a |
C |
A |
9: 119,792,242 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
G |
A |
17: 87,601,454 (GRCm39) |
G63R |
probably benign |
Het |
| Zdhhc3 |
A |
T |
9: 122,929,440 (GRCm39) |
V65D |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,831,426 (GRCm39) |
Y193C |
probably damaging |
Het |
| Zw10 |
T |
A |
9: 48,982,914 (GRCm39) |
I515N |
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 |
|
IGL02225:Cwh43
|
APN |
5 |
73,578,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGAAATAGCTCTGGTTTAGTACC -3'
(R):5'- GGCTACATCAAGTCATCAGGGTC -3'
Sequencing Primer
(F):5'- CCTGTTTGGGGATATTTTGAGGGAAG -3'
(R):5'- GGTCGCATGATGTCAAACTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation