Incidental Mutation 'R4285:Wls'
| ID |
322018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wls
|
| Ensembl Gene |
ENSMUSG00000028173 |
| Gene Name |
wntless WNT ligand secretion mediator |
| Synonyms |
5031439A09Rik, Gpr177 |
| MMRRC Submission |
041080-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4285 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
159545309-159644300 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 159639902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 511
(H511L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068952]
[ENSMUST00000198878]
[ENSMUST00000200191]
|
| AlphaFold |
Q6DID7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068952
AA Change: H511L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067898
Gene: ENSMUSG00000028173
AA Change: H511L
| 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 |
probably benign
Transcript: ENSMUST00000198878
AA Change: H511L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143475
Gene: ENSMUSG00000028173
AA Change: H511L
| 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 |
probably benign
Transcript: ENSMUST00000200191
|
| Meta Mutation Damage Score |
0.0716 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (42/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,994,203 (GRCm39) |
C5162* |
probably null |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cfap73 |
T |
C |
5: 120,770,654 (GRCm39) |
K39E |
possibly damaging |
Het |
| Coq6 |
C |
T |
12: 84,417,178 (GRCm39) |
|
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,041,282 (GRCm39) |
E1316K |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,510,309 (GRCm39) |
|
probably null |
Het |
| Eya2 |
T |
A |
2: 165,566,700 (GRCm39) |
N250K |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,943,320 (GRCm39) |
I738V |
probably benign |
Het |
| Gria2 |
T |
G |
3: 80,614,969 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,852,247 (GRCm39) |
D238E |
probably damaging |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Kctd19 |
G |
A |
8: 106,109,581 (GRCm39) |
|
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,309,347 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,110,298 (GRCm39) |
G1126W |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
| Man2a2 |
T |
C |
7: 80,018,367 (GRCm39) |
D141G |
probably damaging |
Het |
| Map2k1 |
C |
A |
9: 64,119,925 (GRCm39) |
V127L |
probably damaging |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mxd3 |
A |
G |
13: 55,477,167 (GRCm39) |
S31P |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,847,920 (GRCm39) |
E1053K |
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,142,733 (GRCm39) |
T104A |
probably benign |
Het |
| Or2m12 |
A |
C |
16: 19,104,714 (GRCm39) |
F260V |
probably damaging |
Het |
| Or51a5 |
G |
T |
7: 102,771,867 (GRCm39) |
Y37* |
probably null |
Het |
| Pex5l |
A |
G |
3: 33,061,336 (GRCm39) |
I171T |
probably damaging |
Het |
| Plag1 |
A |
G |
4: 3,905,654 (GRCm39) |
V12A |
probably benign |
Het |
| Podn |
C |
A |
4: 107,878,893 (GRCm39) |
V180L |
possibly damaging |
Het |
| Prox2 |
T |
A |
12: 85,141,698 (GRCm39) |
R168S |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,231 (GRCm39) |
Y225C |
probably damaging |
Het |
| Rassf2 |
G |
A |
2: 131,847,314 (GRCm39) |
T97I |
probably benign |
Het |
| Samm50 |
T |
C |
15: 84,081,213 (GRCm39) |
V47A |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| St6galnac3 |
A |
C |
3: 152,912,360 (GRCm39) |
V161G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
Het |
| Vat1l |
A |
G |
8: 114,932,523 (GRCm39) |
E23G |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,030 (GRCm39) |
T566A |
probably benign |
Het |
| Zfp644 |
G |
A |
5: 106,782,984 (GRCm39) |
T1130I |
probably damaging |
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 |
|
R4468:Wls
|
UTSW |
3 |
159,578,564 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- GTTGGCTGAACCTTTGCCTG -3'
(R):5'- ACTGAGCTCTGTATAGTAGGATCTC -3'
Sequencing Primer
(F):5'- AGCATTAAGTACAAGGTAAGCTTTC -3'
(R):5'- TAGGATCTCTACTCCAGGGGAAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation