Incidental Mutation 'R1264:Six3'
| ID |
151127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Six3
|
| Ensembl Gene |
ENSMUSG00000038805 |
| Gene Name |
sine oculis-related homeobox 3 |
| Synonyms |
E130112M24Rik |
| MMRRC Submission |
039331-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1264 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
85921036-85933619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85929285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 206
(D206E)
|
| 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: D206E
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125169
Gene: ENSMUSG00000038805
AA Change: D206E
| 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: D206E
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135677
Gene: ENSMUSG00000038805
AA Change: D206E
| 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: D206E
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135312
Gene: ENSMUSG00000038805
AA Change: D206E
| 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: ENSMUST00000176556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185134
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184318
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,592,103 (GRCm39) |
|
probably benign |
Het |
| Acadl |
A |
T |
1: 66,896,712 (GRCm39) |
C27S |
probably benign |
Het |
| Adgrb3 |
C |
T |
1: 25,598,931 (GRCm39) |
G258E |
probably damaging |
Het |
| Akna |
T |
C |
4: 63,299,962 (GRCm39) |
|
probably null |
Het |
| Angpt2 |
T |
C |
8: 18,791,233 (GRCm39) |
N21S |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,847,447 (GRCm39) |
Y585C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,518,615 (GRCm39) |
|
probably benign |
Het |
| Clec10a |
T |
A |
11: 70,060,567 (GRCm39) |
S103T |
possibly damaging |
Het |
| Clstn2 |
T |
C |
9: 97,339,662 (GRCm39) |
R770G |
probably benign |
Het |
| Cndp2 |
C |
A |
18: 84,696,916 (GRCm39) |
C95F |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,527,371 (GRCm39) |
V2653A |
probably benign |
Het |
| Col4a3 |
A |
T |
1: 82,621,022 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
A |
G |
12: 72,022,085 (GRCm39) |
|
probably benign |
Het |
| H2-M9 |
A |
G |
17: 36,953,484 (GRCm39) |
V18A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,439,491 (GRCm39) |
|
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,221,675 (GRCm39) |
D715G |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,379 (GRCm39) |
K425E |
unknown |
Het |
| Kif13b |
T |
C |
14: 65,013,681 (GRCm39) |
|
probably benign |
Het |
| Msh2 |
T |
A |
17: 88,014,607 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,071,604 (GRCm39) |
N474D |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,978,185 (GRCm39) |
T1246A |
probably benign |
Het |
| Nob1 |
T |
C |
8: 108,148,136 (GRCm39) |
H102R |
probably damaging |
Het |
| Or4z4 |
G |
T |
19: 12,076,198 (GRCm39) |
D268E |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,203,316 (GRCm39) |
I415F |
probably damaging |
Het |
| Pfkl |
T |
G |
10: 77,829,250 (GRCm39) |
K386T |
possibly damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,474,195 (GRCm39) |
V447A |
probably benign |
Het |
| Poli |
C |
T |
18: 70,650,574 (GRCm39) |
V266I |
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 71,861,449 (GRCm39) |
K46N |
possibly damaging |
Het |
| Shisa6 |
T |
C |
11: 66,265,975 (GRCm39) |
|
probably benign |
Het |
| Slc12a1 |
A |
T |
2: 125,060,158 (GRCm39) |
E944D |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,659,381 (GRCm39) |
F1173S |
probably damaging |
Het |
| Tfdp1 |
C |
A |
8: 13,423,837 (GRCm39) |
|
probably benign |
Het |
| Trrap |
A |
G |
5: 144,726,409 (GRCm39) |
|
probably benign |
Het |
| Wbp11 |
A |
G |
6: 136,791,513 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACTAAGGAGTCTCACGGCAAGC -3'
(R):5'- TATCTCCAGAACTGGATCAGCCGC -3'
Sequencing Primer
(F):5'- TCACGGCAAGCTGCAAG -3'
(R):5'- GACAGCCTGAGTTTCCACC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation