Incidental Mutation 'IGL01486:Alx3'
ID |
88742 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Alx3
|
Ensembl Gene |
ENSMUSG00000014603 |
Gene Name |
aristaless-like homeobox 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01486
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
107502347-107513092 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 107512139 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 259
(C259F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014747]
|
AlphaFold |
O70137 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014747
AA Change: C259F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000014747 Gene: ENSMUSG00000014603 AA Change: C259F
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
28 |
N/A |
INTRINSIC |
low complexity region
|
32 |
48 |
N/A |
INTRINSIC |
low complexity region
|
90 |
102 |
N/A |
INTRINSIC |
HOX
|
153 |
215 |
1.06e-25 |
SMART |
low complexity region
|
248 |
258 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene belongs to Group 1 of aristaless-like genes, which are characterized by the presence of an aristaless domain and a conserved paired-like homeodomain. The encoded protein acts as a transcriptional regulator. The protein plays a role in the development of craniofacial and appendicular skeleton and may have a role in pancreatic function. [provided by RefSeq, Apr 2013] PHENOTYPE: Homozygous mutation of this gene results in defects in glucose metabolism. Mice homozygous for a reporter allele exhibit partial preweaning lethality, open neural tube and craniofacial defects in some mice. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ampd3 |
G |
T |
7: 110,409,123 (GRCm39) |
|
probably benign |
Het |
Atm |
T |
C |
9: 53,421,513 (GRCm39) |
I733V |
probably benign |
Het |
Chrd |
A |
G |
16: 20,552,890 (GRCm39) |
|
probably null |
Het |
Ckm |
G |
A |
7: 19,155,156 (GRCm39) |
G262S |
probably damaging |
Het |
Fbn1 |
A |
G |
2: 125,231,898 (GRCm39) |
V412A |
probably benign |
Het |
Fbxw22 |
G |
T |
9: 109,207,941 (GRCm39) |
S443R |
probably damaging |
Het |
Hdgfl2 |
G |
T |
17: 56,405,733 (GRCm39) |
A481S |
possibly damaging |
Het |
Hmcn2 |
G |
A |
2: 31,226,633 (GRCm39) |
V203M |
probably damaging |
Het |
Kdelr3 |
T |
A |
15: 79,407,048 (GRCm39) |
V43D |
probably damaging |
Het |
Klk1b8 |
A |
G |
7: 43,453,113 (GRCm39) |
K235E |
probably benign |
Het |
Macir |
A |
T |
1: 97,573,731 (GRCm39) |
S111R |
probably damaging |
Het |
Mapk1 |
A |
T |
16: 16,836,144 (GRCm39) |
|
probably benign |
Het |
Nfic |
T |
C |
10: 81,243,478 (GRCm39) |
|
probably null |
Het |
Pkd1l2 |
T |
C |
8: 117,786,331 (GRCm39) |
T625A |
probably benign |
Het |
Psd2 |
A |
G |
18: 36,113,388 (GRCm39) |
S287G |
probably benign |
Het |
Smap2 |
A |
T |
4: 120,830,395 (GRCm39) |
F247I |
probably damaging |
Het |
Spata4 |
T |
C |
8: 55,055,341 (GRCm39) |
|
probably benign |
Het |
Tff2 |
T |
G |
17: 31,361,316 (GRCm39) |
E79A |
probably benign |
Het |
Thsd7a |
C |
T |
6: 12,471,079 (GRCm39) |
C513Y |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,031,634 (GRCm39) |
S925P |
possibly damaging |
Het |
Xrcc4 |
C |
A |
13: 90,210,151 (GRCm39) |
E98* |
probably null |
Het |
Ypel3 |
A |
G |
7: 126,377,033 (GRCm39) |
T38A |
probably damaging |
Het |
Zfhx2 |
C |
T |
14: 55,304,547 (GRCm39) |
G1146R |
probably damaging |
Het |
Zfp446 |
T |
A |
7: 12,713,307 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Alx3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02537:Alx3
|
APN |
3 |
107,512,175 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0003:Alx3
|
UTSW |
3 |
107,512,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R1142:Alx3
|
UTSW |
3 |
107,507,980 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3791:Alx3
|
UTSW |
3 |
107,508,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R4322:Alx3
|
UTSW |
3 |
107,502,691 (GRCm39) |
missense |
probably benign |
|
R4769:Alx3
|
UTSW |
3 |
107,508,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R4868:Alx3
|
UTSW |
3 |
107,507,943 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5072:Alx3
|
UTSW |
3 |
107,512,109 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5200:Alx3
|
UTSW |
3 |
107,507,980 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5640:Alx3
|
UTSW |
3 |
107,507,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R5801:Alx3
|
UTSW |
3 |
107,512,257 (GRCm39) |
nonsense |
probably null |
|
R7538:Alx3
|
UTSW |
3 |
107,511,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R8002:Alx3
|
UTSW |
3 |
107,508,055 (GRCm39) |
nonsense |
probably null |
|
R8112:Alx3
|
UTSW |
3 |
107,512,300 (GRCm39) |
nonsense |
probably null |
|
R8733:Alx3
|
UTSW |
3 |
107,512,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R8885:Alx3
|
UTSW |
3 |
107,508,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R8911:Alx3
|
UTSW |
3 |
107,511,603 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Alx3
|
UTSW |
3 |
107,512,395 (GRCm39) |
makesense |
probably null |
|
Z1177:Alx3
|
UTSW |
3 |
107,512,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-18 |