Incidental Mutation 'IGL03371:Mixl1'
ID |
420298 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mixl1
|
Ensembl Gene |
ENSMUSG00000026497 |
Gene Name |
Mix paired-like homeobox |
Synonyms |
Mml |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03371
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
180520608-180524599 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 180522191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 230
(N230S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027778
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027778]
[ENSMUST00000192561]
[ENSMUST00000192725]
[ENSMUST00000193892]
|
AlphaFold |
Q9WUI0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027778
AA Change: N230S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000027778 Gene: ENSMUSG00000026497 AA Change: N230S
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
85 |
N/A |
INTRINSIC |
HOX
|
86 |
148 |
1.58e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192561
|
SMART Domains |
Protein: ENSMUSP00000141331 Gene: ENSMUSG00000058729
Domain | Start | End | E-Value | Type |
DIRP
|
143 |
248 |
2.2e-71 |
SMART |
coiled coil region
|
370 |
428 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192725
|
SMART Domains |
Protein: ENSMUSP00000141503 Gene: ENSMUSG00000058729
Domain | Start | End | E-Value | Type |
DIRP
|
103 |
208 |
2.2e-71 |
SMART |
coiled coil region
|
330 |
388 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193892
|
SMART Domains |
Protein: ENSMUSP00000141530 Gene: ENSMUSG00000058729
Domain | Start | End | E-Value | Type |
DIRP
|
127 |
232 |
2.2e-71 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194847
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et al., 2005 [PubMed 15982639]).[supplied by OMIM, Mar 2008] PHENOTYPE: Homozygous null embryos are mostly arrested in development by E9 exhibiting abnormalities in primitive streak and node formation, disorganized head folds, foreshortened body axis, absence of heart tube and gut, deficient paraxial mesoderm, abnormal notochord morphology, and an enlarged allantois. [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 |
Agk |
C |
T |
6: 40,371,576 (GRCm39) |
R358C |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,981,592 (GRCm39) |
V959F |
possibly damaging |
Het |
Aoc1 |
C |
T |
6: 48,883,380 (GRCm39) |
R419C |
probably benign |
Het |
Brf2 |
T |
C |
8: 27,615,872 (GRCm39) |
D171G |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,501,344 (GRCm39) |
I75V |
possibly damaging |
Het |
D430041D05Rik |
A |
G |
2: 104,078,719 (GRCm39) |
V1199A |
probably damaging |
Het |
Dpp9 |
G |
A |
17: 56,494,377 (GRCm39) |
H861Y |
probably benign |
Het |
Eddm3b |
G |
A |
14: 51,354,422 (GRCm39) |
D137N |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,433,114 (GRCm39) |
I363F |
probably damaging |
Het |
F13b |
T |
A |
1: 139,434,674 (GRCm39) |
C147S |
probably damaging |
Het |
Fam186b |
T |
C |
15: 99,178,258 (GRCm39) |
E356G |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,201,990 (GRCm39) |
R361S |
probably benign |
Het |
Fat4 |
A |
T |
3: 39,037,336 (GRCm39) |
I3663F |
possibly damaging |
Het |
Haus3 |
C |
A |
5: 34,323,687 (GRCm39) |
E308* |
probably null |
Het |
Ifna11 |
A |
G |
4: 88,738,412 (GRCm39) |
K73E |
probably benign |
Het |
Itga10 |
A |
G |
3: 96,562,104 (GRCm39) |
K664E |
possibly damaging |
Het |
L3mbtl4 |
G |
A |
17: 68,768,563 (GRCm39) |
V224M |
probably damaging |
Het |
Mcf2l |
C |
A |
8: 13,051,298 (GRCm39) |
A378D |
probably damaging |
Het |
Ncbp1 |
T |
A |
4: 46,171,991 (GRCm39) |
C786* |
probably null |
Het |
Nup153 |
C |
T |
13: 46,836,628 (GRCm39) |
S1327N |
probably benign |
Het |
Or4c12b |
A |
T |
2: 89,647,509 (GRCm39) |
T280S |
possibly damaging |
Het |
Or8k18 |
A |
T |
2: 86,085,935 (GRCm39) |
I34N |
possibly damaging |
Het |
Osr2 |
C |
A |
15: 35,301,000 (GRCm39) |
Y185* |
probably null |
Het |
Ppp1r3b |
T |
C |
8: 35,851,403 (GRCm39) |
F81L |
possibly damaging |
Het |
Ppp3r2 |
T |
A |
4: 49,681,630 (GRCm39) |
I107F |
probably damaging |
Het |
Rin2 |
G |
A |
2: 145,727,846 (GRCm39) |
|
probably benign |
Het |
Rpap1 |
A |
T |
2: 119,605,538 (GRCm39) |
|
probably benign |
Het |
Slc12a4 |
A |
G |
8: 106,677,137 (GRCm39) |
Y466H |
probably null |
Het |
Slc25a40 |
C |
T |
5: 8,477,442 (GRCm39) |
P9L |
probably benign |
Het |
Slc27a1 |
T |
C |
8: 72,038,052 (GRCm39) |
S567P |
probably benign |
Het |
Sox8 |
G |
A |
17: 25,786,414 (GRCm39) |
R430C |
probably damaging |
Het |
Tacc2 |
T |
C |
7: 130,227,791 (GRCm39) |
V1492A |
possibly damaging |
Het |
Taf5l |
A |
G |
8: 124,724,725 (GRCm39) |
S365P |
possibly damaging |
Het |
Tet2 |
T |
A |
3: 133,173,312 (GRCm39) |
H1650L |
possibly damaging |
Het |
Tmem117 |
G |
A |
15: 94,909,274 (GRCm39) |
R229H |
probably damaging |
Het |
Ttc17 |
A |
G |
2: 94,216,450 (GRCm39) |
L79P |
probably damaging |
Het |
Usp54 |
A |
T |
14: 20,639,436 (GRCm39) |
|
probably benign |
Het |
Zfp455 |
T |
A |
13: 67,355,066 (GRCm39) |
C111* |
probably null |
Het |
Zmym4 |
A |
C |
4: 126,808,881 (GRCm39) |
C389G |
possibly damaging |
Het |
|
Other mutations in Mixl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02548:Mixl1
|
APN |
1 |
180,522,269 (GRCm39) |
missense |
probably benign |
0.03 |
R0453:Mixl1
|
UTSW |
1 |
180,524,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R0838:Mixl1
|
UTSW |
1 |
180,524,365 (GRCm39) |
missense |
probably benign |
0.45 |
R1832:Mixl1
|
UTSW |
1 |
180,522,296 (GRCm39) |
missense |
probably benign |
0.11 |
R4870:Mixl1
|
UTSW |
1 |
180,522,237 (GRCm39) |
missense |
probably benign |
0.06 |
R6046:Mixl1
|
UTSW |
1 |
180,524,336 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6918:Mixl1
|
UTSW |
1 |
180,522,243 (GRCm39) |
missense |
probably benign |
0.02 |
R6980:Mixl1
|
UTSW |
1 |
180,524,453 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7047:Mixl1
|
UTSW |
1 |
180,524,183 (GRCm39) |
critical splice donor site |
probably null |
|
R7296:Mixl1
|
UTSW |
1 |
180,524,523 (GRCm39) |
missense |
probably benign |
|
R8108:Mixl1
|
UTSW |
1 |
180,524,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R8237:Mixl1
|
UTSW |
1 |
180,524,322 (GRCm39) |
nonsense |
probably null |
|
R9074:Mixl1
|
UTSW |
1 |
180,522,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R9095:Mixl1
|
UTSW |
1 |
180,524,402 (GRCm39) |
missense |
probably benign |
|
R9254:Mixl1
|
UTSW |
1 |
180,522,258 (GRCm39) |
missense |
probably benign |
0.00 |
R9379:Mixl1
|
UTSW |
1 |
180,522,258 (GRCm39) |
missense |
probably benign |
0.00 |
R9749:Mixl1
|
UTSW |
1 |
180,522,311 (GRCm39) |
missense |
probably benign |
0.00 |
X0065:Mixl1
|
UTSW |
1 |
180,522,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |