Incidental Mutation 'R8999:Six3'
| ID |
684882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Six3
|
| Ensembl Gene |
ENSMUSG00000038805 |
| Gene Name |
sine oculis-related homeobox 3 |
| Synonyms |
E130112M24Rik |
| MMRRC Submission |
068830-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8999 (G1)
|
| Quality Score |
95.0077 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
85921036-85933619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85931164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 273
(H273Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162695]
[ENSMUST00000175898]
[ENSMUST00000176081]
|
| AlphaFold |
Q62233 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162695
AA Change: H273Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000125169
Gene: ENSMUSG00000038805
AA Change: H273Q
| 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
AA Change: H273Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000135677
Gene: ENSMUSG00000038805
AA Change: H273Q
| 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: ENSMUST00000176081
AA Change: H273Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000135312
Gene: ENSMUSG00000038805
AA Change: H273Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aipl1 |
T |
C |
11: 71,921,083 (GRCm39) |
E245G |
possibly damaging |
Het |
| Cd6 |
A |
T |
19: 10,776,642 (GRCm39) |
C128S |
probably damaging |
Het |
| Cep41 |
T |
C |
6: 30,666,165 (GRCm39) |
D98G |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,818,137 (GRCm39) |
K525E |
probably damaging |
Het |
| Ddx10 |
T |
C |
9: 53,140,534 (GRCm39) |
E289G |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,018,235 (GRCm39) |
T1428A |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,666,684 (GRCm39) |
L631P |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,461,271 (GRCm39) |
C187S |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,640,477 (GRCm39) |
M1072L |
probably benign |
Het |
| Fap |
T |
C |
2: 62,367,368 (GRCm39) |
H338R |
probably benign |
Het |
| Fxyd2 |
T |
C |
9: 45,314,295 (GRCm39) |
|
probably benign |
Het |
| Gabrg1 |
T |
A |
5: 70,973,378 (GRCm39) |
I59F |
probably benign |
Het |
| Glb1l3 |
A |
T |
9: 26,764,914 (GRCm39) |
|
probably null |
Het |
| Gpr27 |
T |
C |
6: 99,669,776 (GRCm39) |
I46T |
possibly damaging |
Het |
| Igkv8-26 |
C |
A |
6: 70,170,514 (GRCm39) |
A35E |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,635,013 (GRCm39) |
|
probably benign |
Het |
| Krt18 |
A |
C |
15: 101,939,874 (GRCm39) |
E357D |
probably damaging |
Het |
| Lbr |
C |
T |
1: 181,646,512 (GRCm39) |
G470E |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,452,473 (GRCm39) |
K454N |
possibly damaging |
Het |
| Map2k3 |
T |
C |
11: 60,840,817 (GRCm39) |
V282A |
|
Het |
| Men1 |
G |
A |
19: 6,389,960 (GRCm39) |
V538I |
probably benign |
Het |
| Mfn1 |
T |
A |
3: 32,623,683 (GRCm39) |
M621K |
possibly damaging |
Het |
| Mpdz |
C |
A |
4: 81,202,882 (GRCm39) |
G1838* |
probably null |
Het |
| Msantd5f9 |
G |
C |
4: 73,837,420 (GRCm39) |
N99K |
probably damaging |
Het |
| Mypn |
A |
T |
10: 62,998,050 (GRCm39) |
L420* |
probably null |
Het |
| Nkx6-1 |
T |
C |
5: 101,812,082 (GRCm39) |
M7V |
unknown |
Het |
| Notum |
G |
A |
11: 120,545,207 (GRCm39) |
H451Y |
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,211,574 (GRCm39) |
V767L |
possibly damaging |
Het |
| Or11i1 |
A |
T |
3: 106,728,999 (GRCm39) |
I292N |
probably damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,988 (GRCm39) |
K297E |
probably damaging |
Het |
| Or6c3 |
A |
G |
10: 129,309,386 (GRCm39) |
N275S |
probably benign |
Het |
| Pabpc4l |
A |
C |
3: 46,400,783 (GRCm39) |
I287S |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 37,073,428 (GRCm39) |
T353M |
possibly damaging |
Het |
| Plekha1 |
T |
C |
7: 130,510,199 (GRCm39) |
I315T |
unknown |
Het |
| Ppp2r2b |
C |
T |
18: 42,870,993 (GRCm39) |
A106T |
probably benign |
Het |
| Prkch |
T |
C |
12: 73,742,973 (GRCm39) |
V209A |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 138,028,930 (GRCm39) |
C284R |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,083,671 (GRCm39) |
V804A |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,684,360 (GRCm39) |
R1130* |
probably null |
Het |
| Serpina6 |
C |
G |
12: 103,617,988 (GRCm39) |
R275P |
probably damaging |
Het |
| Stk35 |
C |
A |
2: 129,652,509 (GRCm39) |
P337T |
probably damaging |
Het |
| Supt5 |
A |
G |
7: 28,037,848 (GRCm39) |
S2P |
unknown |
Het |
| Tnik |
A |
G |
3: 28,719,920 (GRCm39) |
Y1264C |
probably damaging |
Het |
| Trim45 |
A |
G |
3: 100,838,960 (GRCm39) |
T621A |
unknown |
Het |
| Tyrp1 |
T |
C |
4: 80,763,094 (GRCm39) |
L327P |
probably damaging |
Het |
| Vmn2r69 |
A |
C |
7: 85,060,307 (GRCm39) |
S426A |
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 |
|
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'- TTAGGAAGTCTCTGCGGTACTCAG -3'
(R):5'- CATCACATTCCGAGTCGCTG -3'
Sequencing Primer
(F):5'- TGTAAGAACACAGAGCCCCGTTG -3'
(R):5'- ATTCCGAGTCGCTGGAGGTTAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation