Incidental Mutation 'R5451:Cwh43'
ID |
434579 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cwh43
|
Ensembl Gene |
ENSMUSG00000029154 |
Gene Name |
cell wall biogenesis 43 C-terminal homolog |
Synonyms |
C130090K23Rik |
MMRRC Submission |
043016-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R5451 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
73563418-73610778 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73589256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 447
(M447T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069563
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031040]
[ENSMUST00000065543]
|
AlphaFold |
Q91YL7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031040
AA Change: M533T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000031040 Gene: ENSMUSG00000029154 AA Change: M533T
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
AA Change: M447T
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000069563 Gene: ENSMUSG00000029154 AA Change: M447T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135820
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,334,076 (GRCm39) |
F1142S |
possibly damaging |
Het |
Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
Calhm2 |
T |
A |
19: 47,121,314 (GRCm39) |
Y285F |
possibly damaging |
Het |
Casr |
T |
C |
16: 36,330,270 (GRCm39) |
T355A |
probably damaging |
Het |
Ccnq |
T |
A |
11: 78,642,115 (GRCm39) |
Q125L |
possibly damaging |
Het |
Clca3a1 |
T |
C |
3: 144,733,747 (GRCm39) |
Y63C |
probably damaging |
Het |
Cntnap5a |
T |
C |
1: 115,612,873 (GRCm39) |
S3P |
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,143,476 (GRCm39) |
G388D |
probably damaging |
Het |
Dnah7b |
G |
A |
1: 46,281,179 (GRCm39) |
G2747S |
possibly damaging |
Het |
Fbxo7 |
A |
G |
10: 85,864,901 (GRCm39) |
S51G |
probably benign |
Het |
Gabbr2 |
T |
A |
4: 46,684,294 (GRCm39) |
Y660F |
probably benign |
Het |
Galnt15 |
A |
G |
14: 31,751,868 (GRCm39) |
E140G |
probably benign |
Het |
Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
Gsap |
T |
A |
5: 21,422,445 (GRCm39) |
L138Q |
probably damaging |
Het |
Igflr1 |
A |
G |
7: 30,265,747 (GRCm39) |
N57S |
possibly damaging |
Het |
Ighv13-2 |
A |
G |
12: 114,321,473 (GRCm39) |
F89L |
probably damaging |
Het |
Irf2bpl |
A |
G |
12: 86,928,846 (GRCm39) |
V609A |
probably benign |
Het |
Jkampl |
A |
G |
6: 73,445,850 (GRCm39) |
V233A |
probably benign |
Het |
Lingo1 |
T |
G |
9: 56,527,711 (GRCm39) |
I293L |
probably damaging |
Het |
Lrrc14 |
A |
G |
15: 76,598,173 (GRCm39) |
D301G |
probably benign |
Het |
Lsm2 |
T |
C |
17: 35,201,185 (GRCm39) |
|
probably benign |
Het |
Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
Micall1 |
T |
A |
15: 79,011,104 (GRCm39) |
|
probably null |
Het |
Mpp7 |
T |
C |
18: 7,442,855 (GRCm39) |
D156G |
probably null |
Het |
Mybbp1a |
A |
G |
11: 72,338,939 (GRCm39) |
D822G |
probably damaging |
Het |
Naip2 |
A |
G |
13: 100,325,368 (GRCm39) |
V180A |
probably benign |
Het |
Nol10 |
T |
A |
12: 17,409,103 (GRCm39) |
Y159* |
probably null |
Het |
Nphp3 |
A |
G |
9: 103,919,221 (GRCm39) |
T1290A |
probably benign |
Het |
Or12e1 |
T |
A |
2: 87,022,796 (GRCm39) |
V255E |
probably damaging |
Het |
Or5aq1b |
T |
C |
2: 86,902,341 (GRCm39) |
I46V |
probably damaging |
Het |
Or7g20 |
T |
C |
9: 18,946,787 (GRCm39) |
Y123H |
probably damaging |
Het |
Pcsk5 |
T |
A |
19: 17,440,720 (GRCm39) |
Y1290F |
possibly damaging |
Het |
Rab42 |
T |
C |
4: 132,029,827 (GRCm39) |
N132D |
probably benign |
Het |
Rfx3 |
T |
G |
19: 27,827,359 (GRCm39) |
T76P |
probably damaging |
Het |
Rps13-ps2 |
G |
T |
7: 88,180,036 (GRCm39) |
|
noncoding transcript |
Het |
Slc12a3 |
A |
G |
8: 95,083,655 (GRCm39) |
D894G |
possibly damaging |
Het |
Slc25a15 |
G |
A |
8: 22,879,983 (GRCm39) |
T54I |
probably benign |
Het |
Slco1c1 |
A |
T |
6: 141,505,604 (GRCm39) |
Q461L |
probably benign |
Het |
Slfn5 |
T |
G |
11: 82,850,912 (GRCm39) |
I403R |
probably damaging |
Het |
Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
Tbc1d32 |
T |
A |
10: 56,071,571 (GRCm39) |
T318S |
possibly damaging |
Het |
Tiam2 |
G |
T |
17: 3,479,271 (GRCm39) |
R668M |
probably damaging |
Het |
Tle7 |
A |
T |
8: 110,836,503 (GRCm39) |
I160F |
probably damaging |
Het |
Trgj4 |
G |
T |
13: 19,526,335 (GRCm39) |
|
probably benign |
Het |
Trim9 |
A |
G |
12: 70,393,603 (GRCm39) |
S114P |
probably benign |
Het |
Trp53i11 |
T |
C |
2: 93,030,200 (GRCm39) |
L169P |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn1r190-ps |
A |
G |
13: 22,328,901 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCCTTTGAATGCACTTCC -3'
(R):5'- ATATGGCCATTTGCATCCCAG -3'
Sequencing Primer
(F):5'- CTTTGTCTCATCTTCATGACAGCCTG -3'
(R):5'- GCAACACAGGGACAATAATCTAAG -3'
|
Posted On |
2016-10-06 |