Incidental Mutation 'R6482:Wnt5b'
| ID |
517164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wnt5b
|
| Ensembl Gene |
ENSMUSG00000030170 |
| Gene Name |
wingless-type MMTV integration site family, member 5B |
| Synonyms |
Wnt-5b |
| MMRRC Submission |
044614-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6482 (G1)
|
| Quality Score |
87.0076 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119409492-119521308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119410573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 289
(L289Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117171]
[ENSMUST00000118120]
[ENSMUST00000119369]
[ENSMUST00000178696]
|
| AlphaFold |
P22726 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117171
AA Change: L289Q
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113188
Gene: ENSMUSG00000030170
AA Change: L289Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
WNT1
|
50 |
359 |
3.47e-215 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118120
AA Change: L251Q
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112819
Gene: ENSMUSG00000030170
AA Change: L251Q
| Domain | Start | End | E-Value | Type |
|---|
|
WNT1
|
12 |
321 |
3.47e-215 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119369
AA Change: L302Q
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112448
Gene: ENSMUSG00000030170
AA Change: L302Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
WNT1
|
63 |
372 |
3.47e-215 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178696
AA Change: L289Q
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137065
Gene: ENSMUSG00000030170
AA Change: L289Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
WNT1
|
50 |
359 |
3.47e-215 |
SMART |
|
| Meta Mutation Damage Score |
0.1611 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal numbers of thoracic motor neurons and proportions of motor columnar subtypes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
C |
11: 69,902,388 (GRCm39) |
I415V |
probably benign |
Het |
| Akap8l |
A |
G |
17: 32,564,370 (GRCm39) |
F6L |
possibly damaging |
Het |
| Ano3 |
T |
A |
2: 110,527,400 (GRCm39) |
N603Y |
probably damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,634,813 (GRCm39) |
S116P |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,395,825 (GRCm39) |
Q572L |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,070,980 (GRCm39) |
S20P |
probably damaging |
Het |
| Col22a1 |
G |
A |
15: 71,762,338 (GRCm39) |
P107L |
possibly damaging |
Het |
| Dpys |
T |
C |
15: 39,705,369 (GRCm39) |
H248R |
probably damaging |
Het |
| Dsg2 |
A |
T |
18: 20,734,371 (GRCm39) |
K783I |
possibly damaging |
Het |
| Efnb2 |
A |
T |
8: 8,670,637 (GRCm39) |
V321E |
probably damaging |
Het |
| Eif1ad13 |
A |
G |
12: 87,762,565 (GRCm39) |
Y95C |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,320,086 (GRCm39) |
Y209N |
probably benign |
Het |
| Gm35315 |
A |
T |
5: 110,225,955 (GRCm39) |
C495S |
possibly damaging |
Het |
| Hrh1 |
A |
G |
6: 114,457,724 (GRCm39) |
Q335R |
possibly damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,333,670 (GRCm39) |
L203P |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,624,614 (GRCm39) |
S735P |
probably damaging |
Het |
| Klrg1 |
G |
T |
6: 122,248,412 (GRCm39) |
C162* |
probably null |
Het |
| Mcc |
T |
C |
18: 44,578,931 (GRCm39) |
S651G |
possibly damaging |
Het |
| Nkx2-2 |
T |
A |
2: 147,027,896 (GRCm39) |
I15F |
probably damaging |
Het |
| Nppa |
G |
A |
4: 148,085,328 (GRCm39) |
V13I |
probably benign |
Het |
| Obi1 |
A |
T |
14: 104,717,253 (GRCm39) |
C373* |
probably null |
Het |
| Or8i2 |
G |
C |
2: 86,852,869 (GRCm39) |
F6L |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,150,244 (GRCm39) |
N228D |
probably benign |
Het |
| Pgpep1l |
C |
T |
7: 67,888,815 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,622,778 (GRCm39) |
N673D |
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,493,672 (GRCm39) |
S315P |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,388,664 (GRCm39) |
|
probably null |
Het |
| Rnf111 |
T |
C |
9: 70,336,889 (GRCm39) |
T925A |
probably damaging |
Het |
| Spag9 |
T |
C |
11: 93,984,328 (GRCm39) |
F734L |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,177,434 (GRCm39) |
V746A |
probably benign |
Het |
| Tmtc1 |
A |
G |
6: 148,314,243 (GRCm39) |
F119L |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,057,244 (GRCm39) |
M576T |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,362,232 (GRCm39) |
V765E |
probably damaging |
Het |
| Vmn1r20 |
A |
G |
6: 57,409,093 (GRCm39) |
S140G |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,205,843 (GRCm39) |
S235P |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,649 (GRCm39) |
S504G |
probably benign |
Het |
| Zfp142 |
G |
A |
1: 74,609,376 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,549,992 (GRCm39) |
|
probably benign |
Het |
| Zfp948 |
A |
G |
17: 21,807,813 (GRCm39) |
H335R |
probably benign |
Het |
|
| Other mutations in Wnt5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01590:Wnt5b
|
APN |
6 |
119,417,515 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01822:Wnt5b
|
APN |
6 |
119,410,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Blizzard
|
UTSW |
6 |
119,423,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Invierno
|
UTSW |
6 |
119,417,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
luftmensch
|
UTSW |
6 |
119,410,813 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0557:Wnt5b
|
UTSW |
6 |
119,410,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Wnt5b
|
UTSW |
6 |
119,423,543 (GRCm39) |
nonsense |
probably null |
|
|
R1472:Wnt5b
|
UTSW |
6 |
119,410,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1673:Wnt5b
|
UTSW |
6 |
119,423,315 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4202:Wnt5b
|
UTSW |
6 |
119,417,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5100:Wnt5b
|
UTSW |
6 |
119,417,449 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5264:Wnt5b
|
UTSW |
6 |
119,410,813 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5393:Wnt5b
|
UTSW |
6 |
119,417,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5394:Wnt5b
|
UTSW |
6 |
119,417,283 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5482:Wnt5b
|
UTSW |
6 |
119,423,392 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5741:Wnt5b
|
UTSW |
6 |
119,410,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:Wnt5b
|
UTSW |
6 |
119,425,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6005:Wnt5b
|
UTSW |
6 |
119,410,615 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6061:Wnt5b
|
UTSW |
6 |
119,410,603 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6208:Wnt5b
|
UTSW |
6 |
119,423,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6405:Wnt5b
|
UTSW |
6 |
119,410,457 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6478:Wnt5b
|
UTSW |
6 |
119,410,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7047:Wnt5b
|
UTSW |
6 |
119,425,217 (GRCm39) |
start gained |
probably benign |
|
|
R7338:Wnt5b
|
UTSW |
6 |
119,425,092 (GRCm39) |
splice site |
probably null |
|
|
R8044:Wnt5b
|
UTSW |
6 |
119,423,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTGCATCTGACAAAGCAACACC -3'
(R):5'- ATGTCGCCTGCAAATGTCAC -3'
Sequencing Primer
(F):5'- ACACCAGTGGAACCTGCAGTG -3'
(R):5'- TGCAAATGTCACGGAGTCTC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation