Incidental Mutation 'R6524:Six3'
| ID |
521637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Six3
|
| Ensembl Gene |
ENSMUSG00000038805 |
| Gene Name |
sine oculis-related homeobox 3 |
| Synonyms |
E130112M24Rik |
| MMRRC Submission |
044650-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6524 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
85921036-85933619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85929398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 244
(T244I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135312
(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 |
probably damaging
Transcript: ENSMUST00000162695
AA Change: T244I
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125169
Gene: ENSMUSG00000038805
AA Change: T244I
| 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 |
probably damaging
Transcript: ENSMUST00000175898
AA Change: T244I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135677
Gene: ENSMUSG00000038805
AA Change: T244I
| 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 |
probably damaging
Transcript: ENSMUST00000176081
AA Change: T244I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135312
Gene: ENSMUSG00000038805
AA Change: T244I
| 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: ENSMUST00000176556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185134
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176432
|
| Meta Mutation Damage Score |
0.8127 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,435,641 (GRCm39) |
R100G |
possibly damaging |
Het |
| Acin1 |
G |
T |
14: 54,882,740 (GRCm39) |
D237E |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| C3 |
A |
T |
17: 57,524,264 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
A |
T |
12: 69,237,159 (GRCm39) |
C650S |
probably benign |
Het |
| Dsg2 |
T |
G |
18: 20,716,093 (GRCm39) |
F315V |
probably damaging |
Het |
| Dyrk1a |
C |
T |
16: 94,485,979 (GRCm39) |
S404L |
probably benign |
Het |
| Eefsec |
T |
C |
6: 88,274,902 (GRCm39) |
|
probably null |
Het |
| Esco1 |
T |
G |
18: 10,582,188 (GRCm39) |
|
probably null |
Het |
| Fam83a |
T |
C |
15: 57,858,736 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
T |
9: 15,903,552 (GRCm39) |
V2981E |
probably damaging |
Het |
| H1f11-ps |
G |
A |
19: 47,158,999 (GRCm39) |
T192M |
unknown |
Het |
| Heatr5b |
A |
G |
17: 79,121,535 (GRCm39) |
L730P |
possibly damaging |
Het |
| Hgsnat |
A |
G |
8: 26,435,260 (GRCm39) |
S625P |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,340,644 (GRCm39) |
T84I |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,246,709 (GRCm39) |
N1070S |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,708,883 (GRCm39) |
F276L |
probably damaging |
Het |
| Krt84 |
A |
G |
15: 101,441,187 (GRCm39) |
S2P |
unknown |
Het |
| Lbhd2 |
G |
A |
12: 111,376,724 (GRCm39) |
R57H |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 120,969,412 (GRCm39) |
E337G |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,741,816 (GRCm39) |
E3037G |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,266,983 (GRCm39) |
E4308G |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,192,293 (GRCm39) |
I824T |
probably damaging |
Het |
| Meiob |
G |
A |
17: 25,051,491 (GRCm39) |
V291I |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,655,280 (GRCm39) |
D1343E |
probably benign |
Het |
| Mybl2 |
C |
A |
2: 162,916,450 (GRCm39) |
P367Q |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,555,891 (GRCm39) |
N1680S |
probably damaging |
Het |
| Nif3l1 |
T |
C |
1: 58,496,999 (GRCm39) |
V308A |
probably benign |
Het |
| Or5h23 |
C |
T |
16: 58,906,640 (GRCm39) |
V69M |
possibly damaging |
Het |
| Pclo |
G |
A |
5: 14,768,883 (GRCm39) |
R4366H |
unknown |
Het |
| Phax |
T |
A |
18: 56,720,074 (GRCm39) |
D338E |
probably damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,584,519 (GRCm39) |
|
probably null |
Het |
| Rint1 |
A |
T |
5: 24,020,737 (GRCm39) |
M529L |
probably benign |
Het |
| Scand1 |
C |
T |
2: 156,154,169 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,380,623 (GRCm39) |
S1034P |
probably benign |
Het |
| Ssu72 |
T |
G |
4: 155,799,997 (GRCm39) |
N53K |
probably null |
Het |
| Timm44 |
T |
C |
8: 4,317,988 (GRCm39) |
D140G |
possibly damaging |
Het |
| Tspan8 |
T |
C |
10: 115,679,984 (GRCm39) |
F200L |
probably benign |
Het |
| Tyw5 |
A |
T |
1: 57,427,890 (GRCm39) |
V234D |
possibly damaging |
Het |
| Ubxn10 |
T |
A |
4: 138,448,194 (GRCm39) |
R161* |
probably null |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,384 (GRCm39) |
L420Q |
probably damaging |
Het |
| Wdr1 |
A |
T |
5: 38,687,406 (GRCm39) |
D208E |
probably benign |
Het |
| Yif1a |
A |
G |
19: 5,142,204 (GRCm39) |
Y230C |
probably damaging |
Het |
|
| Other mutations in Six3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03096:Six3
|
APN |
17 |
85,929,365 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGGAGTCTCACGGCAAGC -3'
(R):5'- AGCACCGGTATCTCCAGAAC -3'
Sequencing Primer
(F):5'- CAAGCTGCAAGCCATGTG -3'
(R):5'- GAACTGGATCAGCCGCCTCTAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation