Incidental Mutation 'R5280:Wdr5b'
| ID |
404176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr5b
|
| Ensembl Gene |
ENSMUSG00000034379 |
| Gene Name |
WD repeat domain 5B |
| Synonyms |
2310009C03Rik |
| MMRRC Submission |
042840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R5280 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
35861560-35863344 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35862202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 107
(V107A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004054]
[ENSMUST00000004057]
[ENSMUST00000042203]
[ENSMUST00000231351]
|
| AlphaFold |
Q9D7H2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004054
|
| SMART Domains |
Protein: ENSMUSP00000004054
Gene: ENSMUSG00000022905
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
6 |
104 |
1.3e-27 |
PFAM |
|
ARM
|
115 |
156 |
1.47e-2 |
SMART |
|
ARM
|
158 |
198 |
2.51e-10 |
SMART |
|
ARM
|
200 |
241 |
7.16e-6 |
SMART |
|
ARM
|
244 |
283 |
2.22e1 |
SMART |
|
ARM
|
285 |
325 |
1.45e-6 |
SMART |
|
ARM
|
327 |
367 |
1.12e-7 |
SMART |
|
ARM
|
369 |
409 |
1.76e-5 |
SMART |
|
ARM
|
412 |
452 |
2.91e-6 |
SMART |
|
Pfam:Arm_3
|
466 |
516 |
6e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004057
|
| SMART Domains |
Protein: ENSMUSP00000004057
Gene: ENSMUSG00000003955
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1075
|
10 |
155 |
1.8e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042203
AA Change: V107A
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000040852
Gene: ENSMUSG00000034379
AA Change: V107A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
28 |
67 |
5.95e-7 |
SMART |
|
WD40
|
70 |
109 |
1.28e-11 |
SMART |
|
WD40
|
112 |
151 |
4.87e-12 |
SMART |
|
WD40
|
154 |
193 |
5.22e-12 |
SMART |
|
WD40
|
196 |
236 |
1.21e-7 |
SMART |
|
WD40
|
239 |
281 |
5.47e-6 |
SMART |
|
WD40
|
284 |
325 |
1.01e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231351
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232390
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a protein containing several WD40 repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, including a trp-asp at the C-terminal end. The encoded protein may mediate protein-protein interactions. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
C |
T |
17: 43,737,225 (GRCm39) |
T218I |
probably damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,545,584 (GRCm39) |
S5567I |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,474,813 (GRCm39) |
T397A |
probably benign |
Het |
| Atp9a |
T |
A |
2: 168,481,908 (GRCm39) |
Y880F |
possibly damaging |
Het |
| Celsr1 |
T |
C |
15: 85,814,747 (GRCm39) |
T1905A |
probably benign |
Het |
| Chd8 |
G |
A |
14: 52,442,582 (GRCm39) |
A656V |
possibly damaging |
Het |
| Dffa |
A |
G |
4: 149,202,391 (GRCm39) |
N265S |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,674,545 (GRCm39) |
D109G |
probably benign |
Het |
| Gm20821 |
A |
T |
Y: 9,783,963 (GRCm39) |
K195M |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,557,870 (GRCm39) |
N289K |
unknown |
Het |
| Kank1 |
T |
C |
19: 25,388,669 (GRCm39) |
F781L |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,232,329 (GRCm39) |
M759L |
possibly damaging |
Het |
| Lrp8 |
A |
G |
4: 107,711,518 (GRCm39) |
Y307C |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,037,168 (GRCm39) |
H6847R |
probably damaging |
Het |
| Or2ag19 |
G |
A |
7: 106,443,902 (GRCm39) |
C28Y |
probably benign |
Het |
| Or52ab4 |
T |
C |
7: 102,987,708 (GRCm39) |
V149A |
probably benign |
Het |
| Pcdha5 |
C |
A |
18: 37,094,755 (GRCm39) |
Y421* |
probably null |
Het |
| Pclo |
T |
A |
5: 14,590,731 (GRCm39) |
D1010E |
unknown |
Het |
| Pld2 |
A |
T |
11: 70,443,585 (GRCm39) |
D449V |
probably damaging |
Het |
| Ppfia1 |
C |
A |
7: 144,038,832 (GRCm39) |
M1032I |
possibly damaging |
Het |
| Prickle2 |
C |
A |
6: 92,353,191 (GRCm39) |
L758F |
probably damaging |
Het |
| Sarm1 |
A |
G |
11: 78,374,302 (GRCm39) |
V564A |
probably damaging |
Het |
| Taf1b |
C |
A |
12: 24,599,437 (GRCm39) |
F398L |
probably benign |
Het |
| Tll2 |
A |
G |
19: 41,105,696 (GRCm39) |
I361T |
possibly damaging |
Het |
| Tmem260 |
T |
C |
14: 48,742,716 (GRCm39) |
V517A |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,198,411 (GRCm39) |
K106E |
probably benign |
Het |
| Vcan |
C |
A |
13: 89,838,405 (GRCm39) |
V2380F |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,595,542 (GRCm39) |
S381P |
probably damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,507,155 (GRCm39) |
D719G |
probably damaging |
Het |
| Wdr7 |
G |
T |
18: 64,120,383 (GRCm39) |
V1475F |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,993,688 (GRCm39) |
D911G |
probably damaging |
Het |
| Zbtb32 |
T |
A |
7: 30,289,629 (GRCm39) |
E11V |
probably damaging |
Het |
| Zfp563 |
T |
G |
17: 33,323,812 (GRCm39) |
Y136D |
probably damaging |
Het |
|
| Other mutations in Wdr5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02394:Wdr5b
|
APN |
16 |
35,862,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0605:Wdr5b
|
UTSW |
16 |
35,862,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0627:Wdr5b
|
UTSW |
16 |
35,862,840 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5977:Wdr5b
|
UTSW |
16 |
35,862,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Wdr5b
|
UTSW |
16 |
35,862,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7236:Wdr5b
|
UTSW |
16 |
35,862,208 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7246:Wdr5b
|
UTSW |
16 |
35,862,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7641:Wdr5b
|
UTSW |
16 |
35,862,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7918:Wdr5b
|
UTSW |
16 |
35,862,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8063:Wdr5b
|
UTSW |
16 |
35,862,158 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8971:Wdr5b
|
UTSW |
16 |
35,861,926 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Wdr5b
|
UTSW |
16 |
35,862,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAGACTTACTCTTGCGGG -3'
(R):5'- GTGCAGACAAAGTCTTGAGGC -3'
Sequencing Primer
(F):5'- ATTTAGTCCTAATGGCGAATGGC -3'
(R):5'- CAGACAAAGTCTTGAGGCATTTTCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation