Incidental Mutation 'RF011:Six3'
| ID |
603233 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF011 (G1)
|
| Quality Score |
146.467 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
85921036-85933619 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CGG to CGGGGG
at 85928796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000162695
|
| SMART Domains |
Protein: ENSMUSP00000125169
Gene: ENSMUSG00000038805
| 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 benign
Transcript: ENSMUST00000175898
|
| SMART Domains |
Protein: ENSMUSP00000135677
Gene: ENSMUSG00000038805
| 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 benign
Transcript: ENSMUST00000176081
|
| SMART Domains |
Protein: ENSMUSP00000135312
Gene: ENSMUSG00000038805
| 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: ENSMUST00000176958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185134
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176432
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.5%
- 20x: 99.0%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
GTGGTGGCTG |
GTGGTGGCTGTGGTGGCTG |
1: 82,891,290 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
TGCTG |
TGCTGTGGCGGCTG |
1: 82,891,307 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
TGGCTGCTG |
TGGCTGCTGGGGCTGCTG |
1: 82,891,294 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GCG |
GCGTCG |
19: 5,475,264 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
C |
CGGAGGCAGAGGA |
10: 81,479,405 (GRCm39) |
|
probably benign |
Het |
| Aqp2 |
T |
C |
15: 99,481,753 (GRCm39) |
S216P |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,721,009 (GRCm39) |
K672R |
possibly damaging |
Het |
| Cacna1f |
GGA |
GGAAGA |
X: 7,486,295 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
CCA |
CCAGCA |
10: 4,511,018 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
TATTTAT |
TATTTATTTATTCATTTAT |
9: 78,619,810 (GRCm39) |
|
probably benign |
Het |
| Cela2a |
T |
C |
4: 141,549,026 (GRCm39) |
N117D |
probably benign |
Het |
| Cul9 |
CTTC |
CTTCTTC |
17: 46,811,774 (GRCm39) |
|
probably benign |
Het |
| Cyb5r2 |
A |
T |
7: 107,350,375 (GRCm39) |
S235R |
probably benign |
Het |
| Dnmt1 |
CACAGTTCCTACCTCGTT |
CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT |
9: 20,821,424 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
TT |
TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT |
9: 20,821,440 (GRCm39) |
|
probably null |
Het |
| E4f1 |
CCG |
CCGTCG |
17: 24,674,160 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
TCCAGCA |
TCCAGCACCAGCA |
2: 83,643,217 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
GC |
GCAGCATC |
2: 83,643,239 (GRCm39) |
|
probably benign |
Het |
| Fam81b |
CTGTT |
CTGTTGTT |
13: 76,419,435 (GRCm39) |
|
probably benign |
Het |
| Fkbp1a |
GCCGCCGCCA |
G |
2: 151,384,619 (GRCm39) |
|
probably null |
Het |
| Flii |
G |
A |
11: 60,607,069 (GRCm39) |
A969V |
probably benign |
Het |
| Fscb |
AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG |
AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG |
12: 64,519,768 (GRCm39) |
|
probably benign |
Het |
| Gas1 |
G |
GAAA |
13: 60,324,345 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,767,220 (GRCm39) |
D115G |
probably null |
Het |
| Guca2b |
G |
T |
4: 119,514,044 (GRCm39) |
T89N |
possibly damaging |
Het |
| Hcn4 |
T |
A |
9: 58,767,198 (GRCm39) |
S920T |
unknown |
Het |
| Heatr1 |
A |
G |
13: 12,422,425 (GRCm39) |
M484V |
probably benign |
Het |
| Iba57 |
G |
T |
11: 59,054,438 (GRCm39) |
A27E |
probably benign |
Het |
| Ifi207 |
G |
C |
1: 173,556,687 (GRCm39) |
L684V |
not run |
Het |
| Ints13 |
T |
C |
6: 146,457,738 (GRCm39) |
H380R |
probably damaging |
Het |
| Jmjd1c |
C |
T |
10: 67,055,978 (GRCm39) |
T466I |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
| Kif12 |
C |
CCTCCACCCGGCGGGG |
4: 63,089,664 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,543,457 (GRCm39) |
D1399E |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,367,648 (GRCm39) |
L2371Q |
probably damaging |
Het |
| Mbd1 |
GTCTTCGTCTGCATCTGCATCTGCATCT |
GTCT |
18: 74,406,681 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCA |
GCATCA |
3: 59,183,401 (GRCm39) |
|
probably benign |
Het |
| Mgam |
C |
A |
6: 40,734,370 (GRCm39) |
Q1472K |
probably damaging |
Het |
| Mup21 |
TATACTT |
TATACTTTTTAGATACTT |
4: 62,067,582 (GRCm39) |
|
probably benign |
Het |
| Nalf2 |
CGCCGC |
CGCCGCAGCCGC |
X: 98,864,967 (GRCm39) |
|
probably benign |
Het |
| Nipal1 |
A |
G |
5: 72,824,156 (GRCm39) |
N167D |
probably damaging |
Het |
| Or4d10c |
C |
T |
19: 12,065,611 (GRCm39) |
V182I |
probably benign |
Het |
| Or5be3 |
T |
A |
2: 86,864,385 (GRCm39) |
Y60F |
probably damaging |
Het |
| Osbpl3 |
CCTGCA |
C |
6: 50,325,118 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
CCCCCCCCC |
CCCCCCCCCCCCCCCC |
2: 156,146,540 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
CCCCCCCC |
CCCCCCCCCCCCCCC |
2: 156,146,541 (GRCm39) |
|
probably benign |
Het |
| Pramel16 |
C |
G |
4: 143,675,478 (GRCm39) |
Q449H |
probably damaging |
Het |
| Rassf6 |
TCCTGTAGAGCAATGGGGATTC |
TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC |
5: 90,756,780 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
CCAGCCGCAGC |
CCAGC |
5: 28,599,179 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,281,878 (GRCm39) |
F445S |
probably damaging |
Het |
| S100a10 |
TTTTTTTA |
T |
3: 93,471,541 (GRCm39) |
|
probably benign |
Het |
| Sbp |
AA |
AAAATGCTGACAACGGA |
17: 24,164,328 (GRCm39) |
|
probably benign |
Het |
| Sec14l3 |
A |
C |
11: 4,017,963 (GRCm39) |
Q81P |
possibly damaging |
Het |
| Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,515 (GRCm39) |
|
probably benign |
Het |
| Snapc5 |
ATGGAAGAAGAGG |
A |
9: 64,089,493 (GRCm39) |
|
probably benign |
Het |
| Tbc1d12 |
CGGAGGAGG |
CGG |
19: 38,825,401 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCCGC |
18: 60,968,811 (GRCm39) |
|
probably benign |
Het |
| Tox2 |
A |
G |
2: 163,067,484 (GRCm39) |
I68V |
probably benign |
Het |
| Triml2 |
G |
T |
8: 43,636,201 (GRCm39) |
|
probably benign |
Het |
| Tspan33 |
A |
G |
6: 29,716,729 (GRCm39) |
Y162C |
probably damaging |
Het |
| Zfp384 |
GGCCCAGGCCCA |
GGCCCAGGCCCAAGCCCAGGCCCA |
6: 125,013,439 (GRCm39) |
|
probably benign |
Het |
| Zfp948 |
T |
C |
17: 21,808,574 (GRCm39) |
Y589H |
probably damaging |
Het |
| Zic1 |
T |
C |
9: 91,246,383 (GRCm39) |
I230V |
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 |
|
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 |
|
|
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'- AATCGCTGAATCTTGACTCGG -3'
(R):5'- TTTGTTGATGGCCTCGCACG -3'
Sequencing Primer
(F):5'- GTGGGTGTCCCTTACGTCC -3'
(R):5'- CGATGTCGCCCGTCTCC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation