Incidental Mutation 'IGL03096:Six3'
ID |
418582 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Six3
|
Ensembl Gene |
ENSMUSG00000038805 |
Gene Name |
sine oculis-related homeobox 3 |
Synonyms |
E130112M24Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03096
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
85921036-85933619 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85929365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 233
(N233S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125169
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162695]
[ENSMUST00000175898]
[ENSMUST00000176081]
|
AlphaFold |
Q62233 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159030
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161146
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161688
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162695
AA Change: N233S
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125169 Gene: ENSMUSG00000038805 AA Change: N233S
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
71 |
N/A |
INTRINSIC |
HOX
|
208 |
269 |
1.26e-14 |
SMART |
low complexity region
|
294 |
310 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000175898
AA Change: N233S
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000135677 Gene: ENSMUSG00000038805 AA Change: N233S
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
71 |
N/A |
INTRINSIC |
HOX
|
208 |
269 |
1.26e-14 |
SMART |
low complexity region
|
294 |
310 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175913
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176081
AA Change: N233S
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000135312 Gene: ENSMUSG00000038805 AA Change: N233S
Domain | Start | End | E-Value | Type |
low complexity region
|
51 |
92 |
N/A |
INTRINSIC |
Pfam:SIX1_SD
|
109 |
223 |
6e-47 |
PFAM |
HOX
|
229 |
290 |
6.5e-17 |
SMART |
low complexity region
|
315 |
331 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184318
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176917
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177487
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177220
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185134
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183495
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188560
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176432
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009] PHENOTYPE: Mice homozygous for disruptions of this gene die at birth with anterior structures of the head and brain undeveloped. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
A |
G |
11: 80,265,005 (GRCm39) |
F149S |
probably damaging |
Het |
Ablim2 |
A |
T |
5: 36,040,743 (GRCm39) |
K103* |
probably null |
Het |
Anapc4 |
C |
T |
5: 53,023,271 (GRCm39) |
T704I |
possibly damaging |
Het |
Ccar1 |
A |
T |
10: 62,600,112 (GRCm39) |
D606E |
probably benign |
Het |
Ces1d |
T |
C |
8: 93,904,670 (GRCm39) |
I357V |
probably benign |
Het |
Col7a1 |
C |
A |
9: 108,784,856 (GRCm39) |
P228H |
unknown |
Het |
Dock4 |
A |
G |
12: 40,798,000 (GRCm39) |
I875V |
probably benign |
Het |
Fndc3a |
A |
T |
14: 72,836,559 (GRCm39) |
S67T |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,912,760 (GRCm39) |
T3355A |
probably damaging |
Het |
Gtf3a |
G |
A |
5: 146,890,763 (GRCm39) |
R248Q |
probably damaging |
Het |
Hcrtr2 |
T |
A |
9: 76,161,908 (GRCm39) |
M161L |
probably benign |
Het |
Il27ra |
G |
T |
8: 84,758,161 (GRCm39) |
L530M |
probably damaging |
Het |
Kcnj15 |
A |
G |
16: 95,097,293 (GRCm39) |
E305G |
probably damaging |
Het |
Map3k6 |
A |
T |
4: 132,978,656 (GRCm39) |
K1086* |
probably null |
Het |
Neb |
T |
C |
2: 52,139,484 (GRCm39) |
I3044V |
possibly damaging |
Het |
Ntng1 |
A |
T |
3: 110,042,665 (GRCm39) |
S54T |
probably benign |
Het |
Or6c208 |
T |
C |
10: 129,224,318 (GRCm39) |
V272A |
probably damaging |
Het |
Pah |
T |
C |
10: 87,374,104 (GRCm39) |
|
probably null |
Het |
Pex3 |
A |
T |
10: 13,410,407 (GRCm39) |
|
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,599,126 (GRCm39) |
|
probably benign |
Het |
Pramel27 |
A |
G |
4: 143,577,485 (GRCm39) |
D89G |
probably benign |
Het |
Prl7c1 |
A |
T |
13: 27,957,689 (GRCm39) |
D250E |
probably damaging |
Het |
Prrc2c |
C |
T |
1: 162,529,928 (GRCm39) |
G144S |
unknown |
Het |
Rad51c |
A |
G |
11: 87,279,472 (GRCm39) |
L304P |
probably damaging |
Het |
Rnf20 |
A |
C |
4: 49,638,615 (GRCm39) |
|
probably benign |
Het |
Slc2a9 |
T |
A |
5: 38,508,572 (GRCm39) |
I476F |
probably damaging |
Het |
Trps1 |
A |
C |
15: 50,709,875 (GRCm39) |
H154Q |
probably benign |
Het |
Uvssa |
T |
C |
5: 33,568,268 (GRCm39) |
V552A |
probably benign |
Het |
Vmn2r118 |
T |
G |
17: 55,914,996 (GRCm39) |
N550T |
probably damaging |
Het |
Vmn2r16 |
T |
A |
5: 109,487,751 (GRCm39) |
I208K |
probably damaging |
Het |
|
Other mutations in Six3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03397:Six3
|
APN |
17 |
85,929,074 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Six3
|
UTSW |
17 |
85,928,796 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Six3
|
UTSW |
17 |
85,928,784 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Six3
|
UTSW |
17 |
85,928,790 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Six3
|
UTSW |
17 |
85,928,791 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Six3
|
UTSW |
17 |
85,928,793 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Six3
|
UTSW |
17 |
85,928,786 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Six3
|
UTSW |
17 |
85,928,785 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Six3
|
UTSW |
17 |
85,928,796 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Six3
|
UTSW |
17 |
85,928,793 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Six3
|
UTSW |
17 |
85,928,791 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Six3
|
UTSW |
17 |
85,928,790 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Six3
|
UTSW |
17 |
85,928,799 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Six3
|
UTSW |
17 |
85,928,786 (GRCm39) |
small insertion |
probably benign |
|
R0238:Six3
|
UTSW |
17 |
85,928,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R1264:Six3
|
UTSW |
17 |
85,929,285 (GRCm39) |
missense |
probably damaging |
0.96 |
R2903:Six3
|
UTSW |
17 |
85,931,283 (GRCm39) |
missense |
probably damaging |
0.96 |
R2916:Six3
|
UTSW |
17 |
85,929,061 (GRCm39) |
missense |
probably benign |
0.25 |
R4994:Six3
|
UTSW |
17 |
85,928,720 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5393:Six3
|
UTSW |
17 |
85,931,270 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6524:Six3
|
UTSW |
17 |
85,929,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R8998:Six3
|
UTSW |
17 |
85,931,164 (GRCm39) |
missense |
probably benign |
0.01 |
R8999:Six3
|
UTSW |
17 |
85,931,164 (GRCm39) |
missense |
probably benign |
0.01 |
RF003:Six3
|
UTSW |
17 |
85,928,798 (GRCm39) |
small insertion |
probably benign |
|
RF010:Six3
|
UTSW |
17 |
85,928,783 (GRCm39) |
small insertion |
probably benign |
|
RF011:Six3
|
UTSW |
17 |
85,928,796 (GRCm39) |
small insertion |
probably benign |
|
RF012:Six3
|
UTSW |
17 |
85,928,796 (GRCm39) |
small insertion |
probably benign |
|
RF014:Six3
|
UTSW |
17 |
85,928,784 (GRCm39) |
small insertion |
probably benign |
|
RF015:Six3
|
UTSW |
17 |
85,928,798 (GRCm39) |
small insertion |
probably benign |
|
RF022:Six3
|
UTSW |
17 |
85,928,784 (GRCm39) |
small insertion |
probably benign |
|
RF054:Six3
|
UTSW |
17 |
85,928,783 (GRCm39) |
small insertion |
probably benign |
|
|
Posted On |
2016-08-02 |