Incidental Mutation 'IGL02889:Wnt11'
| ID |
363101 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wnt11
|
| Ensembl Gene |
ENSMUSG00000015957 |
| Gene Name |
wingless-type MMTV integration site family, member 11 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.885)
|
| Stock # |
IGL02889
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
98484293-98503954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98499566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 244
(A244T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067495]
[ENSMUST00000163913]
[ENSMUST00000165122]
[ENSMUST00000165240]
[ENSMUST00000167303]
|
| AlphaFold |
P48615 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067495
AA Change: A244T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064333
Gene: ENSMUSG00000015957
AA Change: A244T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
WNT1
|
47 |
354 |
7.5e-170 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163913
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165122
|
| SMART Domains |
Protein: ENSMUSP00000125789
Gene: ENSMUSG00000015957
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:wnt
|
44 |
98 |
6.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165240
|
| SMART Domains |
Protein: ENSMUSP00000131770
Gene: ENSMUSG00000015957
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
WNT1
|
47 |
149 |
1.35e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167303
AA Change: A244T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132166
Gene: ENSMUSG00000015957
AA Change: A244T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
WNT1
|
47 |
354 |
7.5e-170 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208062
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 97%, 85%, and 63% amino acid identity with mouse, chicken, and Xenopus Wnt11 protein, respectively. This gene may play roles in the development of skeleton, kidney and lung, and is considered to be a plausible candidate gene for High Bone Mass Syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in extensive embryonic lethality and mutants surviving to birth die within the first 2 days of life. The kidneys are small and exhibit delayed development. [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 |
|---|
| Adarb1 |
C |
T |
10: 77,149,375 (GRCm39) |
V371I |
probably benign |
Het |
| Amdhd2 |
A |
G |
17: 24,376,761 (GRCm39) |
L308P |
probably damaging |
Het |
| Antxr2 |
G |
T |
5: 98,125,509 (GRCm39) |
H249Q |
probably benign |
Het |
| Arg1 |
A |
T |
10: 24,791,653 (GRCm39) |
M276K |
probably damaging |
Het |
| Bloc1s6 |
T |
C |
2: 122,584,604 (GRCm39) |
Y60H |
probably damaging |
Het |
| Btnl9 |
A |
T |
11: 49,069,604 (GRCm39) |
V225E |
probably damaging |
Het |
| Col1a1 |
T |
C |
11: 94,842,335 (GRCm39) |
Y1418H |
unknown |
Het |
| Ct45a |
C |
A |
X: 55,592,551 (GRCm39) |
K19N |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,554,581 (GRCm39) |
I1162K |
possibly damaging |
Het |
| Dmgdh |
T |
C |
13: 93,852,185 (GRCm39) |
|
probably null |
Het |
| Ear10 |
A |
G |
14: 44,160,726 (GRCm39) |
F34L |
probably damaging |
Het |
| Fli1 |
A |
G |
9: 32,376,992 (GRCm39) |
I92T |
probably damaging |
Het |
| Fpgs |
G |
A |
2: 32,575,891 (GRCm39) |
|
probably benign |
Het |
| Glp1r |
T |
A |
17: 31,150,118 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Ifitm3 |
C |
T |
7: 140,589,792 (GRCm39) |
R87Q |
probably damaging |
Het |
| Ints3 |
G |
T |
3: 90,300,143 (GRCm39) |
H925N |
probably damaging |
Het |
| Itgb4 |
T |
A |
11: 115,879,731 (GRCm39) |
C628S |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,878,443 (GRCm39) |
D402V |
possibly damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,124,991 (GRCm39) |
E147V |
probably null |
Het |
| Krtap19-4 |
T |
C |
16: 88,681,944 (GRCm39) |
Y4C |
unknown |
Het |
| Lrp2 |
A |
T |
2: 69,382,794 (GRCm39) |
S30R |
possibly damaging |
Het |
| Or11g27 |
A |
G |
14: 50,770,970 (GRCm39) |
I34V |
probably benign |
Het |
| Or8g2b |
A |
G |
9: 39,751,533 (GRCm39) |
M268V |
probably benign |
Het |
| Prima1 |
A |
G |
12: 103,163,575 (GRCm39) |
V132A |
probably benign |
Het |
| Psme1 |
A |
G |
14: 55,817,383 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
C |
A |
17: 26,286,653 (GRCm39) |
R500L |
possibly damaging |
Het |
| Rnf40 |
C |
A |
7: 127,190,601 (GRCm39) |
S255* |
probably null |
Het |
| Sebox |
T |
C |
11: 78,395,156 (GRCm39) |
V166A |
probably benign |
Het |
| Spata24 |
C |
A |
18: 35,789,805 (GRCm39) |
R194L |
probably benign |
Het |
| Spata31h1 |
C |
T |
10: 82,119,654 (GRCm39) |
S482N |
probably damaging |
Het |
| Tbx4 |
T |
A |
11: 85,790,621 (GRCm39) |
Y154* |
probably null |
Het |
| Trim24 |
G |
A |
6: 37,934,696 (GRCm39) |
E768K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,562,304 (GRCm39) |
V28847A |
possibly damaging |
Het |
| Utp6 |
T |
A |
11: 79,839,896 (GRCm39) |
Q264L |
possibly damaging |
Het |
| Vim |
A |
G |
2: 13,585,491 (GRCm39) |
R424G |
probably damaging |
Het |
| Vmn1r216 |
A |
C |
13: 23,283,649 (GRCm39) |
T111P |
probably damaging |
Het |
| Zbtb26 |
A |
C |
2: 37,326,261 (GRCm39) |
N247K |
probably benign |
Het |
| Zfp629 |
T |
G |
7: 127,209,203 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Wnt11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0277:Wnt11
|
UTSW |
7 |
98,496,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0323:Wnt11
|
UTSW |
7 |
98,496,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0674:Wnt11
|
UTSW |
7 |
98,495,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Wnt11
|
UTSW |
7 |
98,495,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Wnt11
|
UTSW |
7 |
98,495,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Wnt11
|
UTSW |
7 |
98,488,349 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5899:Wnt11
|
UTSW |
7 |
98,488,383 (GRCm39) |
nonsense |
probably null |
|
|
R6481:Wnt11
|
UTSW |
7 |
98,502,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7198:Wnt11
|
UTSW |
7 |
98,496,588 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9148:Wnt11
|
UTSW |
7 |
98,488,241 (GRCm39) |
start gained |
probably benign |
|
|
R9301:Wnt11
|
UTSW |
7 |
98,495,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation