Incidental Mutation 'R4468:Wls'
| ID |
329268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wls
|
| Ensembl Gene |
ENSMUSG00000028173 |
| Gene Name |
wntless WNT ligand secretion mediator |
| Synonyms |
5031439A09Rik, Gpr177 |
| MMRRC Submission |
041725-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4468 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
159545309-159644300 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 159578564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 42
(A42E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068952]
[ENSMUST00000198878]
[ENSMUST00000200191]
|
| AlphaFold |
Q6DID7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068952
AA Change: A42E
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067898
Gene: ENSMUSG00000028173
AA Change: A42E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
Pfam:MIG-14_Wnt-bd
|
178 |
496 |
3.7e-97 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197328
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198878
AA Change: A42E
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143475
Gene: ENSMUSG00000028173
AA Change: A42E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
Pfam:MIG-14_Wnt-bd
|
177 |
497 |
2.8e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199465
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200191
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200571
|
| Meta Mutation Damage Score |
0.2559 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for null alleles exhibit impaired body axis and triploblastic development dying prior to E10.5. Mice homozygous for a floxed allele activated in keratinocytes exhibit a psoriasiform dermatitis-like phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
A |
T |
11: 116,487,781 (GRCm39) |
D160V |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,334,914 (GRCm39) |
Y1962C |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,522,375 (GRCm39) |
M5921L |
probably benign |
Het |
| Bmp2 |
T |
C |
2: 133,396,374 (GRCm39) |
V10A |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,937,235 (GRCm39) |
S655P |
possibly damaging |
Het |
| Ccdc33 |
G |
T |
9: 57,977,155 (GRCm39) |
T282K |
possibly damaging |
Het |
| Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
| Clec4f |
A |
G |
6: 83,629,415 (GRCm39) |
I381T |
probably damaging |
Het |
| Ifit1bl2 |
G |
A |
19: 34,596,468 (GRCm39) |
Q383* |
probably null |
Het |
| Igkv6-15 |
A |
G |
6: 70,383,957 (GRCm39) |
V7A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lancl2 |
T |
A |
6: 57,690,019 (GRCm39) |
L75H |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or13c7 |
G |
A |
4: 43,854,737 (GRCm39) |
V143M |
probably benign |
Het |
| Or7g29 |
C |
T |
9: 19,286,944 (GRCm39) |
V78I |
probably benign |
Het |
| Pcdha5 |
T |
C |
18: 37,095,233 (GRCm39) |
S581P |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,173,037 (GRCm39) |
|
probably null |
Het |
| Ppp2r3c |
C |
T |
12: 55,344,668 (GRCm39) |
W100* |
probably null |
Het |
| Prxl2b |
T |
G |
4: 154,981,507 (GRCm39) |
K190T |
probably benign |
Het |
| Pwwp3a |
C |
T |
10: 80,076,570 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
G |
A |
19: 4,250,293 (GRCm39) |
H143Y |
probably benign |
Het |
| Riox2 |
T |
A |
16: 59,296,357 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,994,452 (GRCm39) |
Y1276F |
probably damaging |
Het |
| Rps12-ps24 |
A |
G |
8: 36,493,268 (GRCm39) |
|
noncoding transcript |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
G |
A |
9: 119,584,053 (GRCm39) |
L1521F |
probably damaging |
Het |
| Shoc2 |
A |
G |
19: 54,014,845 (GRCm39) |
Y346C |
probably damaging |
Het |
| Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
| Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,992,682 (GRCm39) |
D1726V |
probably damaging |
Het |
| Tns4 |
A |
T |
11: 98,961,241 (GRCm39) |
C646S |
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
|
| Other mutations in Wls |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01924:Wls
|
APN |
3 |
159,607,080 (GRCm39) |
nonsense |
probably null |
|
|
IGL02065:Wls
|
APN |
3 |
159,616,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02073:Wls
|
APN |
3 |
159,612,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02133:Wls
|
APN |
3 |
159,603,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Wls
|
UTSW |
3 |
159,603,074 (GRCm39) |
nonsense |
probably null |
|
|
R0561:Wls
|
UTSW |
3 |
159,578,705 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1697:Wls
|
UTSW |
3 |
159,602,995 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1791:Wls
|
UTSW |
3 |
159,617,450 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2444:Wls
|
UTSW |
3 |
159,612,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Wls
|
UTSW |
3 |
159,603,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4285:Wls
|
UTSW |
3 |
159,639,902 (GRCm39) |
missense |
probably benign |
|
|
R4472:Wls
|
UTSW |
3 |
159,603,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4782:Wls
|
UTSW |
3 |
159,603,082 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4799:Wls
|
UTSW |
3 |
159,603,082 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4809:Wls
|
UTSW |
3 |
159,603,082 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5006:Wls
|
UTSW |
3 |
159,617,428 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5212:Wls
|
UTSW |
3 |
159,578,645 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5434:Wls
|
UTSW |
3 |
159,639,976 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5694:Wls
|
UTSW |
3 |
159,545,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6315:Wls
|
UTSW |
3 |
159,640,007 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7069:Wls
|
UTSW |
3 |
159,639,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7243:Wls
|
UTSW |
3 |
159,615,402 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7529:Wls
|
UTSW |
3 |
159,578,644 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7697:Wls
|
UTSW |
3 |
159,616,955 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7842:Wls
|
UTSW |
3 |
159,578,816 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8136:Wls
|
UTSW |
3 |
159,578,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8536:Wls
|
UTSW |
3 |
159,578,748 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8816:Wls
|
UTSW |
3 |
159,639,928 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9074:Wls
|
UTSW |
3 |
159,615,403 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGGAGGTGACAAGAGG -3'
(R):5'- CAGCATAAACTGGAACCATGG -3'
Sequencing Primer
(F):5'- CAAGAGGGTCCTCACTTAGATCTG -3'
(R):5'- TGGACTCATCTCCATAGAAGGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation