Incidental Mutation 'R6432:Wdr38'
| ID |
518578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr38
|
| Ensembl Gene |
ENSMUSG00000035295 |
| Gene Name |
WD repeat domain 38 |
| Synonyms |
1700123D08Rik |
| MMRRC Submission |
044570-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6432 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
38888287-38891600 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38890723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 199
(N199S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039535]
[ENSMUST00000080861]
[ENSMUST00000112872]
|
| AlphaFold |
Q9D994 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039535
AA Change: N199S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043834
Gene: ENSMUSG00000035295
AA Change: N199S
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
15 |
54 |
9.67e-7 |
SMART |
|
WD40
|
57 |
96 |
9.22e-13 |
SMART |
|
WD40
|
99 |
138 |
4.4e-10 |
SMART |
|
WD40
|
141 |
180 |
1.21e-7 |
SMART |
|
WD40
|
186 |
224 |
9.97e-9 |
SMART |
|
WD40
|
227 |
266 |
4.34e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080861
|
| SMART Domains |
Protein: ENSMUSP00000079672
Gene: ENSMUSG00000062997
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L29
|
7 |
63 |
2.7e-22 |
PFAM |
|
low complexity region
|
95 |
108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112872
AA Change: N199S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108493
Gene: ENSMUSG00000035295
AA Change: N199S
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
15 |
54 |
9.67e-7 |
SMART |
|
WD40
|
57 |
96 |
9.22e-13 |
SMART |
|
WD40
|
99 |
138 |
4.4e-10 |
SMART |
|
WD40
|
141 |
180 |
1.21e-7 |
SMART |
|
WD40
|
186 |
224 |
9.97e-9 |
SMART |
|
WD40
|
227 |
266 |
4.34e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152441
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora3 |
T |
A |
3: 105,814,991 (GRCm39) |
L101* |
probably null |
Het |
| Atf7ip2 |
T |
C |
16: 10,022,534 (GRCm39) |
I71T |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,322,512 (GRCm39) |
C206R |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,845,411 (GRCm39) |
L606P |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,639 (GRCm39) |
F574L |
probably damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,846,601 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
C |
A |
19: 47,668,847 (GRCm39) |
E126* |
probably null |
Het |
| Cxadr |
A |
C |
16: 78,122,147 (GRCm39) |
D49A |
probably damaging |
Het |
| Dact1 |
T |
C |
12: 71,365,327 (GRCm39) |
S703P |
probably damaging |
Het |
| Dchs2 |
T |
A |
3: 83,178,425 (GRCm39) |
H1159Q |
possibly damaging |
Het |
| Dnmt3a |
T |
A |
12: 3,952,399 (GRCm39) |
F697I |
probably damaging |
Het |
| Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
| Ear2 |
G |
T |
14: 44,340,660 (GRCm39) |
C106F |
probably damaging |
Het |
| Gnl2 |
A |
T |
4: 124,946,353 (GRCm39) |
I525F |
possibly damaging |
Het |
| Hsph1 |
C |
A |
5: 149,542,441 (GRCm39) |
K692N |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,664,116 (GRCm39) |
C489S |
possibly damaging |
Het |
| Kdm2b |
C |
T |
5: 123,018,254 (GRCm39) |
C1007Y |
probably damaging |
Het |
| Ly6m |
T |
C |
15: 74,751,813 (GRCm39) |
T74A |
probably benign |
Het |
| Mast4 |
T |
C |
13: 103,042,185 (GRCm39) |
S22G |
possibly damaging |
Het |
| Ms4a12 |
A |
G |
19: 11,192,376 (GRCm39) |
*264Q |
probably null |
Het |
| Myh8 |
G |
T |
11: 67,189,405 (GRCm39) |
A1194S |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,955,805 (GRCm39) |
N131K |
probably damaging |
Het |
| Or10g6 |
T |
C |
9: 39,933,824 (GRCm39) |
I45T |
probably damaging |
Het |
| Or5w13 |
A |
T |
2: 87,523,872 (GRCm39) |
M118K |
probably damaging |
Het |
| Rbm14 |
G |
T |
19: 4,853,191 (GRCm39) |
|
probably benign |
Het |
| Rnf130 |
T |
A |
11: 49,986,617 (GRCm39) |
C320* |
probably null |
Het |
| Rnf5 |
A |
G |
17: 34,821,101 (GRCm39) |
V77A |
possibly damaging |
Het |
| Sh3pxd2a |
G |
T |
19: 47,258,366 (GRCm39) |
P418T |
probably damaging |
Het |
| Shank3 |
G |
T |
15: 89,387,616 (GRCm39) |
V262F |
possibly damaging |
Het |
| Six5 |
T |
A |
7: 18,830,696 (GRCm39) |
V441E |
probably damaging |
Het |
| Tbc1d9b |
T |
A |
11: 50,037,155 (GRCm39) |
I268N |
probably benign |
Het |
| Terb1 |
G |
A |
8: 105,212,078 (GRCm39) |
T301I |
possibly damaging |
Het |
| Tnxb |
A |
C |
17: 34,936,891 (GRCm39) |
D2820A |
probably damaging |
Het |
| Tram2 |
C |
T |
1: 21,074,457 (GRCm39) |
E242K |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,793 (GRCm39) |
K210E |
probably damaging |
Het |
| Tulp2 |
T |
A |
7: 45,168,012 (GRCm39) |
D141E |
probably benign |
Het |
| Umodl1 |
C |
T |
17: 31,205,121 (GRCm39) |
T572I |
probably benign |
Het |
| Upf2 |
C |
A |
2: 5,984,588 (GRCm39) |
A501E |
unknown |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,483 (GRCm39) |
T537A |
possibly damaging |
Het |
| Wdr11 |
T |
A |
7: 129,208,242 (GRCm39) |
D332E |
possibly damaging |
Het |
| Zfp672 |
T |
A |
11: 58,207,758 (GRCm39) |
I188F |
possibly damaging |
Het |
|
| Other mutations in Wdr38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01549:Wdr38
|
APN |
2 |
38,890,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02019:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02020:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02137:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02138:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02172:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02178:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02422:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02423:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02525:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02526:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02621:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02623:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02624:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02625:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4696001:Wdr38
|
UTSW |
2 |
38,889,984 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1473:Wdr38
|
UTSW |
2 |
38,890,991 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1794:Wdr38
|
UTSW |
2 |
38,890,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3964:Wdr38
|
UTSW |
2 |
38,889,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Wdr38
|
UTSW |
2 |
38,891,333 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6513:Wdr38
|
UTSW |
2 |
38,889,970 (GRCm39) |
splice site |
probably null |
|
|
R7266:Wdr38
|
UTSW |
2 |
38,890,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Wdr38
|
UTSW |
2 |
38,888,352 (GRCm39) |
start gained |
probably benign |
|
|
R7834:Wdr38
|
UTSW |
2 |
38,890,196 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8333:Wdr38
|
UTSW |
2 |
38,889,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Wdr38
|
UTSW |
2 |
38,890,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCATTGTGATTCCATCC -3'
(R):5'- TTGGTTGTAGGCTTCCAGACAC -3'
Sequencing Primer
(F):5'- TGATTCCATCCAGAGCAGTG -3'
(R):5'- ACAGATGGTCTTGTCCCAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation