Incidental Mutation 'R2342:Wnt16'
| ID |
246783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wnt16
|
| Ensembl Gene |
ENSMUSG00000029671 |
| Gene Name |
wingless-type MMTV integration site family, member 16 |
| Synonyms |
E130309I19Rik |
| MMRRC Submission |
040328-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2342 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
22288226-22298521 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22288923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 80
(E80G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031681]
[ENSMUST00000128245]
[ENSMUST00000148639]
|
| AlphaFold |
Q9QYS1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031681
AA Change: E80G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031681
Gene: ENSMUSG00000029671
AA Change: E80G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
WNT1
|
48 |
364 |
1.13e-146 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128245
AA Change: E80G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134822
Gene: ENSMUSG00000029671
AA Change: E80G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
WNT1
|
48 |
225 |
1.04e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148639
AA Change: E80G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135016
Gene: ENSMUSG00000029671
AA Change: E80G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
WNT1
|
48 |
225 |
1.61e-19 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176681
AA Change: E21G
|
| Meta Mutation Damage Score |
0.9235 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (39/39) |
| 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 contains two transcript variants diverging at the 5' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased bone mineral density, cortical bone thickness and bone strength. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
C |
T |
13: 98,130,537 (GRCm39) |
E434K |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,515 (GRCm39) |
M236K |
probably benign |
Het |
| Camk1 |
T |
C |
6: 113,318,942 (GRCm39) |
|
probably benign |
Het |
| Chd8 |
A |
C |
14: 52,442,674 (GRCm39) |
N625K |
probably benign |
Het |
| Dcaf8 |
A |
G |
1: 172,013,928 (GRCm39) |
H373R |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,802,896 (GRCm39) |
|
probably benign |
Het |
| Epha2 |
C |
T |
4: 141,050,842 (GRCm39) |
A866V |
probably benign |
Het |
| Frmd6 |
C |
A |
12: 70,930,592 (GRCm39) |
Y237* |
probably null |
Het |
| Glg1 |
A |
T |
8: 111,914,439 (GRCm39) |
C448* |
probably null |
Het |
| Gm4787 |
G |
T |
12: 81,425,532 (GRCm39) |
R209S |
possibly damaging |
Het |
| Hhipl1 |
T |
C |
12: 108,284,721 (GRCm39) |
L358P |
probably damaging |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,063 (GRCm39) |
T315I |
possibly damaging |
Het |
| Irak2 |
C |
A |
6: 113,670,632 (GRCm39) |
T539K |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 40,809,208 (GRCm39) |
G2568C |
possibly damaging |
Het |
| Meis1 |
C |
T |
11: 18,831,647 (GRCm39) |
A464T |
probably damaging |
Het |
| Or10g1b |
C |
A |
14: 52,627,322 (GRCm39) |
A303S |
possibly damaging |
Het |
| Or6a2 |
T |
C |
7: 106,600,116 (GRCm39) |
D317G |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,817,152 (GRCm39) |
S179P |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,729,691 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,204,049 (GRCm39) |
V174D |
probably damaging |
Het |
| Rnf169 |
T |
C |
7: 99,574,652 (GRCm39) |
K648E |
possibly damaging |
Het |
| Rtf1 |
A |
G |
2: 119,542,598 (GRCm39) |
T301A |
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,747,207 (GRCm39) |
V528A |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,238,540 (GRCm39) |
V308A |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,354,680 (GRCm39) |
V335A |
possibly damaging |
Het |
| Skint6 |
T |
A |
4: 113,034,180 (GRCm39) |
T316S |
probably benign |
Het |
| Tbl2 |
G |
A |
5: 135,187,607 (GRCm39) |
R288Q |
possibly damaging |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,353,599 (GRCm39) |
K1469E |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,501,316 (GRCm39) |
Y92H |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zbtb10 |
C |
T |
3: 9,330,255 (GRCm39) |
P538S |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,804,113 (GRCm39) |
H454Y |
probably damaging |
Het |
|
| Other mutations in Wnt16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Wnt16
|
APN |
6 |
22,291,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01306:Wnt16
|
APN |
6 |
22,297,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02297:Wnt16
|
APN |
6 |
22,297,990 (GRCm39) |
nonsense |
probably null |
|
|
ANU23:Wnt16
|
UTSW |
6 |
22,297,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0320:Wnt16
|
UTSW |
6 |
22,297,992 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1671:Wnt16
|
UTSW |
6 |
22,298,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3437:Wnt16
|
UTSW |
6 |
22,298,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3786:Wnt16
|
UTSW |
6 |
22,298,021 (GRCm39) |
missense |
probably benign |
|
|
R5301:Wnt16
|
UTSW |
6 |
22,297,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5357:Wnt16
|
UTSW |
6 |
22,291,231 (GRCm39) |
intron |
probably benign |
|
|
R5468:Wnt16
|
UTSW |
6 |
22,291,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5843:Wnt16
|
UTSW |
6 |
22,290,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6655:Wnt16
|
UTSW |
6 |
22,290,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6731:Wnt16
|
UTSW |
6 |
22,297,891 (GRCm39) |
nonsense |
probably null |
|
|
R6988:Wnt16
|
UTSW |
6 |
22,288,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7437:Wnt16
|
UTSW |
6 |
22,288,560 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7904:Wnt16
|
UTSW |
6 |
22,297,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7919:Wnt16
|
UTSW |
6 |
22,291,049 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7940:Wnt16
|
UTSW |
6 |
22,291,188 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8071:Wnt16
|
UTSW |
6 |
22,288,997 (GRCm39) |
missense |
probably benign |
|
|
R9057:Wnt16
|
UTSW |
6 |
22,288,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9195:Wnt16
|
UTSW |
6 |
22,297,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9618:Wnt16
|
UTSW |
6 |
22,297,892 (GRCm39) |
nonsense |
probably null |
|
|
R9618:Wnt16
|
UTSW |
6 |
22,297,891 (GRCm39) |
nonsense |
probably null |
|
|
R9781:Wnt16
|
UTSW |
6 |
22,291,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Wnt16
|
UTSW |
6 |
22,288,587 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAACGCTGACCTAATGC -3'
(R):5'- CACTCTATCGAAGGAACGCG -3'
Sequencing Primer
(F):5'- AGGAACGCTGACCTAATGCTTTTG -3'
(R):5'- GCAGAAAAGCTGTCGCCTTGTATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation