Incidental Mutation 'R2444:Wls'
ID |
249905 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wls
|
Ensembl Gene |
ENSMUSG00000028173 |
Gene Name |
wntless WNT ligand secretion mediator |
Synonyms |
5031439A09Rik, Gpr177 |
MMRRC Submission |
040402-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2444 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
159545309-159644300 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 159612867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 261
(R261Q)
|
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: R261Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067898 Gene: ENSMUSG00000028173 AA Change: R261Q
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: ENSMUST00000197328
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198878
AA Change: R261Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143475 Gene: ENSMUSG00000028173 AA Change: R261Q
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200571
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
A |
T |
10: 78,904,561 (GRCm39) |
D112E |
possibly damaging |
Het |
Abca15 |
A |
G |
7: 119,965,120 (GRCm39) |
Y794C |
probably damaging |
Het |
Bicd2 |
T |
C |
13: 49,532,500 (GRCm39) |
V362A |
probably benign |
Het |
Cep126 |
G |
A |
9: 8,101,307 (GRCm39) |
T409M |
probably damaging |
Het |
Cep131 |
A |
G |
11: 119,961,321 (GRCm39) |
F610S |
probably damaging |
Het |
Cfap61 |
T |
C |
2: 145,877,239 (GRCm39) |
|
probably null |
Het |
Chd1l |
A |
G |
3: 97,497,882 (GRCm39) |
Y320H |
probably damaging |
Het |
Dnajc30 |
A |
G |
5: 135,093,439 (GRCm39) |
D112G |
probably damaging |
Het |
Dync2i1 |
T |
C |
12: 116,196,289 (GRCm39) |
D486G |
possibly damaging |
Het |
Fam184a |
A |
C |
10: 53,517,045 (GRCm39) |
L410R |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,172,799 (GRCm39) |
N2638S |
probably damaging |
Het |
Fgf15 |
A |
G |
7: 144,453,429 (GRCm39) |
D134G |
probably benign |
Het |
Flywch2 |
A |
T |
17: 23,996,024 (GRCm39) |
S124R |
possibly damaging |
Het |
Gabra5 |
G |
A |
7: 57,058,623 (GRCm39) |
T375I |
probably benign |
Het |
Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
Hltf |
T |
A |
3: 20,118,071 (GRCm39) |
N44K |
possibly damaging |
Het |
Hoatz |
A |
G |
9: 51,011,298 (GRCm39) |
|
probably null |
Het |
Kcnb2 |
A |
T |
1: 15,779,791 (GRCm39) |
N221I |
probably benign |
Het |
Marco |
G |
A |
1: 120,422,499 (GRCm39) |
T61M |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,222,786 (GRCm39) |
I180T |
probably damaging |
Het |
Mei1 |
C |
T |
15: 81,997,142 (GRCm39) |
T626M |
probably damaging |
Het |
Mtnr1a |
C |
T |
8: 45,540,695 (GRCm39) |
Q219* |
probably null |
Het |
Nav3 |
A |
G |
10: 109,600,776 (GRCm39) |
S1284P |
probably benign |
Het |
Or1j10 |
T |
C |
2: 36,267,625 (GRCm39) |
V279A |
possibly damaging |
Het |
Or7g30 |
T |
A |
9: 19,352,311 (GRCm39) |
I34K |
possibly damaging |
Het |
Pcdh9 |
T |
A |
14: 94,124,227 (GRCm39) |
T648S |
probably benign |
Het |
Proz |
A |
T |
8: 13,111,027 (GRCm39) |
|
probably benign |
Het |
Rec114 |
G |
T |
9: 58,567,602 (GRCm39) |
A128E |
probably damaging |
Het |
Rspry1 |
G |
T |
8: 95,349,735 (GRCm39) |
G41V |
probably damaging |
Het |
Sbf2 |
A |
T |
7: 109,929,905 (GRCm39) |
M1388K |
probably benign |
Het |
Spice1 |
C |
T |
16: 44,186,931 (GRCm39) |
Q143* |
probably null |
Het |
Tcstv3 |
A |
T |
13: 120,779,365 (GRCm39) |
K88M |
probably damaging |
Het |
Terb2 |
T |
A |
2: 122,023,788 (GRCm39) |
|
probably null |
Het |
Tmx3 |
A |
T |
18: 90,558,307 (GRCm39) |
K453M |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,933,200 (GRCm39) |
Y688C |
probably damaging |
Het |
Tshz2 |
T |
G |
2: 169,726,726 (GRCm39) |
S441A |
probably benign |
Het |
Usp45 |
A |
T |
4: 21,817,528 (GRCm39) |
M399L |
probably benign |
Het |
Vmn2r82 |
A |
T |
10: 79,213,702 (GRCm39) |
H96L |
possibly 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 |
R3161:Wls
|
UTSW |
3 |
159,603,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R4285:Wls
|
UTSW |
3 |
159,639,902 (GRCm39) |
missense |
probably benign |
|
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'- CAGTACCTTCTATAACGATGAACAC -3'
(R):5'- TGGTGTGGGAACAAGCTATC -3'
Sequencing Primer
(F):5'- AACGATGAACACTTTTGGTAGAC -3'
(R):5'- TGGGAACAAGCTATCTGAAGACTTAC -3'
|
Posted On |
2014-11-12 |