Incidental Mutation 'R5601:Cwh43'
| ID |
439017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cwh43
|
| Ensembl Gene |
ENSMUSG00000029154 |
| Gene Name |
cell wall biogenesis 43 C-terminal homolog |
| Synonyms |
C130090K23Rik |
| MMRRC Submission |
043153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5601 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
73563418-73610778 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 73575283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031040]
[ENSMUST00000065543]
|
| AlphaFold |
Q91YL7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031040
|
| SMART Domains |
Protein: ENSMUSP00000031040
Gene: ENSMUSG00000029154
| 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 benign
Transcript: ENSMUST00000065543
|
| SMART Domains |
Protein: ENSMUSP00000069563
Gene: ENSMUSG00000029154
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
G |
A |
13: 91,931,029 (GRCm39) |
V426I |
probably benign |
Het |
| Asmt |
T |
C |
X: 169,110,127 (GRCm39) |
V212A |
probably damaging |
Het |
| Atn1 |
A |
G |
6: 124,720,191 (GRCm39) |
|
probably null |
Het |
| Auts2 |
G |
T |
5: 131,505,662 (GRCm39) |
|
probably benign |
Het |
| AW551984 |
C |
T |
9: 39,502,563 (GRCm39) |
V672M |
possibly damaging |
Het |
| Bltp3a |
C |
A |
17: 28,103,468 (GRCm39) |
A392D |
probably damaging |
Het |
| Ccdc13 |
G |
A |
9: 121,629,638 (GRCm39) |
Q114* |
probably null |
Het |
| Ces2e |
A |
T |
8: 105,656,126 (GRCm39) |
I146F |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,280,549 (GRCm39) |
K1443E |
probably damaging |
Het |
| Cma2 |
T |
A |
14: 56,211,246 (GRCm39) |
H179Q |
possibly damaging |
Het |
| Cpsf2 |
G |
T |
12: 101,951,614 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dram1 |
A |
G |
10: 88,160,629 (GRCm39) |
S231P |
probably damaging |
Het |
| Fbxw7 |
A |
G |
3: 84,883,515 (GRCm39) |
D482G |
probably damaging |
Het |
| Fstl1 |
T |
C |
16: 37,647,161 (GRCm39) |
I177T |
probably benign |
Het |
| Fut9 |
T |
C |
4: 25,620,299 (GRCm39) |
T172A |
probably benign |
Het |
| Gm5134 |
G |
A |
10: 75,821,786 (GRCm39) |
V207M |
probably damaging |
Het |
| Hccs |
G |
A |
X: 168,096,597 (GRCm39) |
R203C |
probably damaging |
Het |
| Hmgxb3 |
A |
T |
18: 61,270,694 (GRCm39) |
F877I |
probably damaging |
Het |
| Ide |
A |
G |
19: 37,292,379 (GRCm39) |
V272A |
unknown |
Het |
| Impact |
C |
T |
18: 13,109,064 (GRCm39) |
T65I |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,166,863 (GRCm39) |
S309P |
probably damaging |
Het |
| Myf6 |
A |
C |
10: 107,330,475 (GRCm39) |
S31A |
probably damaging |
Het |
| Or4n4b |
C |
A |
14: 50,536,318 (GRCm39) |
W149C |
probably damaging |
Het |
| Or8b35 |
C |
G |
9: 37,904,010 (GRCm39) |
T74R |
possibly damaging |
Het |
| P4hb |
T |
A |
11: 120,462,441 (GRCm39) |
E88D |
possibly damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,535,259 (GRCm39) |
C418R |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,142,817 (GRCm39) |
D267G |
probably damaging |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
| Prss58 |
A |
T |
6: 40,874,783 (GRCm39) |
N19K |
possibly damaging |
Het |
| Ptprq |
C |
T |
10: 107,444,291 (GRCm39) |
A1438T |
probably benign |
Het |
| Rfx4 |
A |
T |
10: 84,634,442 (GRCm39) |
T61S |
probably damaging |
Het |
| Sclt1 |
T |
A |
3: 41,685,354 (GRCm39) |
N35Y |
probably benign |
Het |
| Sec24b |
CTG |
CTGGTG |
3: 129,834,483 (GRCm39) |
|
probably benign |
Het |
| Serpinb12 |
T |
C |
1: 106,881,427 (GRCm39) |
I188T |
probably damaging |
Het |
| Slc27a4 |
A |
T |
2: 29,695,672 (GRCm39) |
Y69F |
probably benign |
Het |
| Slc3a1 |
T |
C |
17: 85,340,319 (GRCm39) |
V247A |
probably benign |
Het |
| Slc4a2 |
C |
T |
5: 24,643,772 (GRCm39) |
T854I |
probably benign |
Het |
| Stat5b |
G |
A |
11: 100,674,001 (GRCm39) |
T761M |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,842,717 (GRCm39) |
L563P |
probably damaging |
Het |
| Tbc1d23 |
C |
A |
16: 57,018,672 (GRCm39) |
C283F |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,564,462 (GRCm39) |
N900S |
possibly damaging |
Het |
| Tkfc |
T |
C |
19: 10,571,927 (GRCm39) |
T370A |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,311,604 (GRCm39) |
V1868A |
possibly damaging |
Het |
| Triobp |
T |
A |
15: 78,857,833 (GRCm39) |
W1145R |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,232,025 (GRCm39) |
L675V |
probably damaging |
Het |
| Zfp423 |
T |
C |
8: 88,508,637 (GRCm39) |
E444G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGGCTGTGATTTTGAGC -3'
(R):5'- TTAAACGCTGTGCACCAGG -3'
Sequencing Primer
(F):5'- CTGTGATTTTGAGCAGACCACAG -3'
(R):5'- CACCAGGCACAGAAAAATGTTTG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation