Incidental Mutation 'R8333:Wdr38'
| ID |
644461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr38
|
| Ensembl Gene |
ENSMUSG00000035295 |
| Gene Name |
WD repeat domain 38 |
| Synonyms |
1700123D08Rik |
| MMRRC Submission |
067861-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8333 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
38888287-38891600 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38889361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 51
(Y51H)
|
| 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: Y51H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043834
Gene: ENSMUSG00000035295
AA Change: Y51H
| 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: Y51H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108493
Gene: ENSMUSG00000035295
AA Change: Y51H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
T |
C |
15: 97,143,166 (GRCm39) |
T419A |
probably damaging |
Het |
| Baiap2l1 |
A |
C |
5: 144,217,691 (GRCm39) |
I298M |
possibly damaging |
Het |
| BC005624 |
G |
T |
2: 30,863,748 (GRCm39) |
A245D |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,915,615 (GRCm39) |
H786R |
possibly damaging |
Het |
| Cerkl |
A |
G |
2: 79,168,922 (GRCm39) |
V427A |
possibly damaging |
Het |
| Cfap43 |
G |
T |
19: 47,885,765 (GRCm39) |
C283* |
probably null |
Het |
| Chfr |
G |
A |
5: 110,302,803 (GRCm39) |
A455T |
probably benign |
Het |
| Cldn13 |
T |
A |
5: 134,943,850 (GRCm39) |
I112F |
possibly damaging |
Het |
| Cyb5rl |
T |
A |
4: 106,925,875 (GRCm39) |
V19E |
probably benign |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,828,295 (GRCm39) |
C568S |
probably benign |
Het |
| Ecm2 |
T |
C |
13: 49,671,859 (GRCm39) |
L120P |
probably damaging |
Het |
| Gpr156 |
T |
C |
16: 37,812,416 (GRCm39) |
S251P |
probably damaging |
Het |
| Gpr182 |
T |
C |
10: 127,585,790 (GRCm39) |
N387S |
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,291,595 (GRCm39) |
V834A |
possibly damaging |
Het |
| Igkv8-34 |
T |
C |
6: 70,021,337 (GRCm39) |
S42G |
probably benign |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,527,587 (GRCm39) |
D208V |
probably benign |
Het |
| Lrrc9 |
C |
T |
12: 72,528,317 (GRCm39) |
T872I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,279,245 (GRCm39) |
|
probably null |
Het |
| Mrpl13 |
A |
G |
15: 55,420,679 (GRCm39) |
M1T |
probably null |
Het |
| Ncapg |
C |
T |
5: 45,831,805 (GRCm39) |
T217I |
probably damaging |
Het |
| Nim1k |
G |
A |
13: 120,174,022 (GRCm39) |
P291S |
probably damaging |
Het |
| Or8c11 |
G |
A |
9: 38,289,912 (GRCm39) |
G239D |
probably damaging |
Het |
| Or8k31-ps1 |
A |
T |
2: 86,356,415 (GRCm39) |
Y35* |
probably null |
Het |
| Padi6 |
T |
C |
4: 140,464,687 (GRCm39) |
M181V |
probably damaging |
Het |
| Pax7 |
T |
A |
4: 139,557,514 (GRCm39) |
I86F |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,054,680 (GRCm39) |
Y271N |
probably benign |
Het |
| Rabgap1 |
C |
T |
2: 37,385,710 (GRCm39) |
P492L |
probably benign |
Het |
| Rhno1 |
G |
T |
6: 128,334,728 (GRCm39) |
D198E |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,514,191 (GRCm39) |
I292L |
probably benign |
Het |
| Slc40a1 |
T |
C |
1: 45,950,439 (GRCm39) |
S338G |
probably damaging |
Het |
| Slc45a3 |
A |
G |
1: 131,905,928 (GRCm39) |
Y317C |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,532,270 (GRCm39) |
S2842R |
probably benign |
Het |
| Tle2 |
C |
T |
10: 81,413,518 (GRCm39) |
T119I |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,553,938 (GRCm39) |
V30922I |
possibly damaging |
Het |
| Usp33 |
C |
T |
3: 152,080,297 (GRCm39) |
P476L |
probably 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 |
|
R6432:Wdr38
|
UTSW |
2 |
38,890,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
R9542:Wdr38
|
UTSW |
2 |
38,890,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCTCAAAGGTGTGCATC -3'
(R):5'- AGTGTCACCCTATCCAGCTG -3'
Sequencing Primer
(F):5'- CAAAGGTGTGCATCGTTATTTCTAGC -3'
(R):5'- AGCTGCCTCTGCTGGACTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation