Incidental Mutation 'R3948:Wdr25'
| ID |
307798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr25
|
| Ensembl Gene |
ENSMUSG00000040877 |
| Gene Name |
WD repeat domain 25 |
| Synonyms |
B930090D16Rik |
| MMRRC Submission |
040928-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R3948 (G1)
|
| Quality Score |
176 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
108860155-108994380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108993208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 475
(C475S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047115]
[ENSMUST00000167816]
[ENSMUST00000190647]
[ENSMUST00000209829]
[ENSMUST00000221510]
|
| AlphaFold |
E9Q349 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047115
AA Change: C475S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000035553
Gene: ENSMUSG00000040877
AA Change: C475S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
206 |
N/A |
INTRINSIC |
|
WD40
|
226 |
268 |
1.83e-7 |
SMART |
|
WD40
|
272 |
311 |
6.73e-6 |
SMART |
|
WD40
|
312 |
353 |
2.58e-1 |
SMART |
|
Blast:WD40
|
356 |
402 |
7e-11 |
BLAST |
|
Blast:WD40
|
407 |
445 |
6e-8 |
BLAST |
|
WD40
|
451 |
492 |
9.6e-2 |
SMART |
|
WD40
|
495 |
535 |
3e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167816
AA Change: C475S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000129855
Gene: ENSMUSG00000040877
AA Change: C475S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
206 |
N/A |
INTRINSIC |
|
WD40
|
226 |
268 |
1.83e-7 |
SMART |
|
WD40
|
272 |
311 |
6.73e-6 |
SMART |
|
WD40
|
312 |
353 |
2.58e-1 |
SMART |
|
Blast:WD40
|
356 |
402 |
7e-11 |
BLAST |
|
Blast:WD40
|
407 |
445 |
6e-8 |
BLAST |
|
WD40
|
451 |
492 |
9.6e-2 |
SMART |
|
WD40
|
495 |
535 |
3e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190647
|
| SMART Domains |
Protein: ENSMUSP00000140393
Gene: ENSMUSG00000040867
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
18 |
132 |
2e-4 |
SMART |
|
low complexity region
|
285 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209829
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221510
AA Change: C123S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
G |
4: 49,447,477 (GRCm39) |
L368P |
possibly damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
| Ankrd50 |
A |
G |
3: 38,536,990 (GRCm39) |
L121S |
possibly damaging |
Het |
| Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
| Avil |
A |
G |
10: 126,850,074 (GRCm39) |
S642G |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| Dhx15 |
T |
C |
5: 52,318,922 (GRCm39) |
|
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,662,615 (GRCm39) |
|
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,328,264 (GRCm39) |
Y73C |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,325,769 (GRCm39) |
I94T |
possibly damaging |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Irak3 |
T |
A |
10: 120,006,278 (GRCm39) |
M213L |
probably benign |
Het |
| Kcnj2 |
A |
G |
11: 110,963,481 (GRCm39) |
D291G |
possibly damaging |
Het |
| Krtap13 |
A |
G |
16: 88,547,957 (GRCm39) |
L177P |
possibly damaging |
Het |
| Mios |
A |
G |
6: 8,215,496 (GRCm39) |
T231A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odr4 |
A |
T |
1: 150,264,308 (GRCm39) |
L67* |
probably null |
Het |
| Or4c122 |
A |
G |
2: 89,079,336 (GRCm39) |
F234S |
possibly damaging |
Het |
| Pramel30 |
A |
C |
4: 144,057,876 (GRCm39) |
Q161P |
probably benign |
Het |
| Ralgapa1 |
C |
A |
12: 55,745,552 (GRCm39) |
V1268F |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,414 (GRCm39) |
M551K |
possibly damaging |
Het |
| Serpinb9c |
A |
C |
13: 33,334,077 (GRCm39) |
C322G |
probably benign |
Het |
| Slc28a3 |
C |
T |
13: 58,710,824 (GRCm39) |
|
probably null |
Het |
| Slc35e4 |
A |
T |
11: 3,862,970 (GRCm39) |
V73E |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Trim5 |
G |
A |
7: 103,915,727 (GRCm39) |
Q273* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,867,910 (GRCm39) |
T1974M |
probably damaging |
Het |
| Zfp202 |
C |
A |
9: 40,119,721 (GRCm39) |
H175N |
probably benign |
Het |
| Zfp248 |
TTAAATTCAT |
TT |
6: 118,407,155 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Wdr25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Wdr25
|
APN |
12 |
108,990,953 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02479:Wdr25
|
APN |
12 |
108,864,527 (GRCm39) |
missense |
probably benign |
|
|
IGL02672:Wdr25
|
APN |
12 |
108,864,007 (GRCm39) |
nonsense |
probably null |
|
|
IGL03329:Wdr25
|
APN |
12 |
108,864,262 (GRCm39) |
missense |
probably benign |
|
|
R1061:Wdr25
|
UTSW |
12 |
108,958,725 (GRCm39) |
splice site |
probably null |
|
|
R1402:Wdr25
|
UTSW |
12 |
108,992,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1402:Wdr25
|
UTSW |
12 |
108,992,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1582:Wdr25
|
UTSW |
12 |
108,863,980 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1764:Wdr25
|
UTSW |
12 |
108,992,364 (GRCm39) |
nonsense |
probably null |
|
|
R1954:Wdr25
|
UTSW |
12 |
108,864,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2258:Wdr25
|
UTSW |
12 |
108,864,100 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3770:Wdr25
|
UTSW |
12 |
108,864,346 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3803:Wdr25
|
UTSW |
12 |
108,864,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4183:Wdr25
|
UTSW |
12 |
108,993,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5246:Wdr25
|
UTSW |
12 |
108,993,382 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5290:Wdr25
|
UTSW |
12 |
108,863,968 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5305:Wdr25
|
UTSW |
12 |
108,992,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Wdr25
|
UTSW |
12 |
108,993,347 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5942:Wdr25
|
UTSW |
12 |
108,864,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6386:Wdr25
|
UTSW |
12 |
108,990,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7171:Wdr25
|
UTSW |
12 |
108,990,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7449:Wdr25
|
UTSW |
12 |
108,992,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7616:Wdr25
|
UTSW |
12 |
108,958,819 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7617:Wdr25
|
UTSW |
12 |
108,958,819 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7619:Wdr25
|
UTSW |
12 |
108,958,819 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7622:Wdr25
|
UTSW |
12 |
108,958,819 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7623:Wdr25
|
UTSW |
12 |
108,958,819 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7984:Wdr25
|
UTSW |
12 |
108,976,983 (GRCm39) |
splice site |
probably null |
|
|
R8504:Wdr25
|
UTSW |
12 |
108,992,393 (GRCm39) |
nonsense |
probably null |
|
|
R9598:Wdr25
|
UTSW |
12 |
108,864,613 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGTCACAGGACTGCTG -3'
(R):5'- AGTGCCAGATCTTGATGTCTCC -3'
Sequencing Primer
(F):5'- TCCACGGTTAGGCACACAG -3'
(R):5'- AGATCTTGATGTCTCCTCCCCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation