Incidental Mutation 'R5648:Wdr93'
ID |
441269 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr93
|
Ensembl Gene |
ENSMUSG00000039099 |
Gene Name |
WD repeat domain 93 |
Synonyms |
EG626359 |
MMRRC Submission |
043169-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R5648 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
79392911-79435698 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79426974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 638
(C638R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035622]
|
AlphaFold |
Q402B2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035622
AA Change: C638R
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000037467 Gene: ENSMUSG00000039099 AA Change: C638R
Domain | Start | End | E-Value | Type |
low complexity region
|
240 |
251 |
N/A |
INTRINSIC |
low complexity region
|
265 |
274 |
N/A |
INTRINSIC |
SCOP:d1jofa_
|
389 |
607 |
7e-4 |
SMART |
Blast:WD40
|
413 |
451 |
2e-11 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
C |
2: 25,326,510 (GRCm39) |
|
probably null |
Het |
Alpk2 |
A |
G |
18: 65,482,988 (GRCm39) |
V340A |
probably damaging |
Het |
Cald1 |
G |
T |
6: 34,739,267 (GRCm39) |
|
probably null |
Het |
Col24a1 |
C |
T |
3: 145,064,321 (GRCm39) |
T702I |
probably benign |
Het |
Ddx50 |
T |
C |
10: 62,452,049 (GRCm39) |
R725G |
unknown |
Het |
Dnah9 |
A |
T |
11: 65,818,581 (GRCm39) |
F68L |
probably benign |
Het |
Dnmt3b |
G |
A |
2: 153,519,118 (GRCm39) |
V651M |
probably damaging |
Het |
Dock1 |
G |
A |
7: 134,348,683 (GRCm39) |
C299Y |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,375,162 (GRCm39) |
I562V |
probably benign |
Het |
Esco2 |
A |
T |
14: 66,068,641 (GRCm39) |
V223D |
probably damaging |
Het |
Ggt6 |
T |
C |
11: 72,326,542 (GRCm39) |
I33T |
possibly damaging |
Het |
Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
Gm9847 |
A |
G |
12: 14,545,130 (GRCm39) |
|
noncoding transcript |
Het |
Gnao1 |
A |
T |
8: 94,676,070 (GRCm39) |
Y116F |
probably damaging |
Het |
Gvin1 |
A |
T |
7: 105,762,606 (GRCm39) |
I621K |
possibly damaging |
Het |
Hyal6 |
T |
C |
6: 24,734,235 (GRCm39) |
M56T |
possibly damaging |
Het |
Hyou1 |
T |
A |
9: 44,296,546 (GRCm39) |
D490E |
probably damaging |
Het |
Igsf10 |
G |
C |
3: 59,235,574 (GRCm39) |
Q1536E |
probably benign |
Het |
Klk1b8 |
T |
C |
7: 43,448,068 (GRCm39) |
S31P |
possibly damaging |
Het |
Map3k6 |
A |
C |
4: 132,970,646 (GRCm39) |
I178L |
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,528,778 (GRCm39) |
N427Y |
probably damaging |
Het |
Ncr1 |
T |
A |
7: 4,347,519 (GRCm39) |
I228N |
probably damaging |
Het |
Nefh |
A |
T |
11: 4,895,233 (GRCm39) |
Y319N |
probably damaging |
Het |
Or4a80 |
A |
C |
2: 89,582,417 (GRCm39) |
C252G |
probably damaging |
Het |
Pakap |
T |
C |
4: 57,854,848 (GRCm39) |
V120A |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,628,850 (GRCm39) |
Y699F |
probably benign |
Het |
Plekhd1 |
T |
C |
12: 80,767,362 (GRCm39) |
L250P |
probably damaging |
Het |
Reln |
A |
G |
5: 22,203,570 (GRCm39) |
V1228A |
probably benign |
Het |
Rhobtb2 |
G |
T |
14: 70,034,593 (GRCm39) |
R211S |
probably damaging |
Het |
Rps6kb1 |
T |
C |
11: 86,403,697 (GRCm39) |
I305V |
possibly damaging |
Het |
Slc12a2 |
G |
A |
18: 58,029,382 (GRCm39) |
G256E |
possibly damaging |
Het |
Slc4a1ap |
A |
G |
5: 31,708,129 (GRCm39) |
|
probably null |
Het |
Thoc1 |
A |
G |
18: 9,962,390 (GRCm39) |
T92A |
possibly damaging |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Tmem117 |
T |
G |
15: 94,992,653 (GRCm39) |
S438A |
possibly damaging |
Het |
Ttll7 |
A |
G |
3: 146,667,465 (GRCm39) |
N777S |
probably damaging |
Het |
Ubd |
T |
A |
17: 37,506,345 (GRCm39) |
V77E |
probably damaging |
Het |
Ubqln3 |
A |
G |
7: 103,790,117 (GRCm39) |
S658P |
probably damaging |
Het |
Vmn1r78 |
G |
A |
7: 11,886,693 (GRCm39) |
M101I |
possibly damaging |
Het |
Zfp983 |
T |
A |
17: 21,877,947 (GRCm39) |
V50D |
probably damaging |
Het |
Zhx3 |
A |
T |
2: 160,623,881 (GRCm39) |
H95Q |
probably damaging |
Het |
|
Other mutations in Wdr93 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00928:Wdr93
|
APN |
7 |
79,425,301 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01910:Wdr93
|
APN |
7 |
79,421,321 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01977:Wdr93
|
APN |
7 |
79,402,253 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01979:Wdr93
|
APN |
7 |
79,426,400 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02191:Wdr93
|
APN |
7 |
79,398,968 (GRCm39) |
missense |
probably damaging |
0.98 |
R0008:Wdr93
|
UTSW |
7 |
79,408,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R0008:Wdr93
|
UTSW |
7 |
79,408,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R1136:Wdr93
|
UTSW |
7 |
79,423,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:Wdr93
|
UTSW |
7 |
79,398,922 (GRCm39) |
missense |
probably damaging |
0.99 |
R1586:Wdr93
|
UTSW |
7 |
79,418,109 (GRCm39) |
missense |
probably damaging |
0.99 |
R1605:Wdr93
|
UTSW |
7 |
79,421,257 (GRCm39) |
splice site |
probably null |
|
R1651:Wdr93
|
UTSW |
7 |
79,399,830 (GRCm39) |
missense |
probably benign |
0.00 |
R3078:Wdr93
|
UTSW |
7 |
79,402,241 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3689:Wdr93
|
UTSW |
7 |
79,421,333 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4013:Wdr93
|
UTSW |
7 |
79,418,159 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4771:Wdr93
|
UTSW |
7 |
79,426,511 (GRCm39) |
missense |
probably damaging |
0.99 |
R4824:Wdr93
|
UTSW |
7 |
79,399,817 (GRCm39) |
nonsense |
probably null |
|
R4887:Wdr93
|
UTSW |
7 |
79,435,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R5172:Wdr93
|
UTSW |
7 |
79,402,241 (GRCm39) |
missense |
probably damaging |
0.97 |
R5510:Wdr93
|
UTSW |
7 |
79,399,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R5625:Wdr93
|
UTSW |
7 |
79,420,766 (GRCm39) |
missense |
probably benign |
0.00 |
R5950:Wdr93
|
UTSW |
7 |
79,423,179 (GRCm39) |
missense |
probably damaging |
0.99 |
R6147:Wdr93
|
UTSW |
7 |
79,408,245 (GRCm39) |
missense |
probably benign |
|
R6530:Wdr93
|
UTSW |
7 |
79,405,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R7056:Wdr93
|
UTSW |
7 |
79,399,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R7079:Wdr93
|
UTSW |
7 |
79,399,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R7309:Wdr93
|
UTSW |
7 |
79,423,103 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7397:Wdr93
|
UTSW |
7 |
79,416,172 (GRCm39) |
missense |
probably null |
0.01 |
R7426:Wdr93
|
UTSW |
7 |
79,427,055 (GRCm39) |
critical splice donor site |
probably null |
|
R7455:Wdr93
|
UTSW |
7 |
79,425,267 (GRCm39) |
missense |
probably benign |
0.09 |
R7618:Wdr93
|
UTSW |
7 |
79,435,474 (GRCm39) |
missense |
probably benign |
0.02 |
R8360:Wdr93
|
UTSW |
7 |
79,398,974 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCATACACAGAGAGCAGGC -3'
(R):5'- AGACTCATGTGGTAAAGTCCTTCAG -3'
Sequencing Primer
(F):5'- GAGAGCAGGCCCACACC -3'
(R):5'- GGTAAAGTCCTTCAGTTAGCAGC -3'
|
Posted On |
2016-11-08 |