Incidental Mutation 'IGL01635:Six4'
| ID |
92951 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Six4
|
| Ensembl Gene |
ENSMUSG00000034460 |
| Gene Name |
sine oculis-related homeobox 4 |
| Synonyms |
AREC3, TrexBF |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01635
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
73146383-73160201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73155971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 324
(A324V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043208]
[ENSMUST00000175693]
|
| AlphaFold |
Q61321 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043208
AA Change: A332V
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000036150
Gene: ENSMUSG00000034460
AA Change: A332V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
98 |
N/A |
INTRINSIC |
|
Pfam:SIX1_SD
|
101 |
211 |
1.6e-47 |
PFAM |
|
HOX
|
216 |
278 |
7.48e-17 |
SMART |
|
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175693
AA Change: A324V
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135699
Gene: ENSMUSG00000034460
AA Change: A324V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
90 |
N/A |
INTRINSIC |
|
HOX
|
208 |
270 |
7.48e-17 |
SMART |
|
low complexity region
|
327 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
|
| 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 homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for a targeted null mutation are viable, fertile, and exhibit no apparent abnormalities suggesting compensation by other Six family members. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
G |
16: 8,431,910 (GRCm39) |
I396V |
probably benign |
Het |
| Bag2 |
T |
A |
1: 33,786,013 (GRCm39) |
N103I |
possibly damaging |
Het |
| Cfap95 |
T |
C |
19: 23,536,379 (GRCm39) |
Y176C |
probably damaging |
Het |
| Chd1 |
T |
C |
17: 17,598,858 (GRCm39) |
S107P |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,252,076 (GRCm39) |
|
probably benign |
Het |
| Cytip |
T |
C |
2: 58,038,243 (GRCm39) |
E106G |
probably damaging |
Het |
| Dcp1b |
T |
A |
6: 119,183,498 (GRCm39) |
I195N |
probably damaging |
Het |
| Ddhd1 |
C |
A |
14: 45,867,037 (GRCm39) |
V322F |
probably null |
Het |
| Esrrg |
A |
T |
1: 187,930,797 (GRCm39) |
D296V |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,035,427 (GRCm39) |
K1867R |
probably benign |
Het |
| Gm10717 |
C |
A |
9: 3,025,511 (GRCm39) |
A32D |
probably damaging |
Het |
| Gm10717 |
C |
A |
9: 3,025,506 (GRCm39) |
F30L |
possibly damaging |
Het |
| Gstt1 |
G |
T |
10: 75,629,951 (GRCm39) |
T54K |
probably damaging |
Het |
| Ighmbp2 |
C |
T |
19: 3,317,265 (GRCm39) |
V536I |
possibly damaging |
Het |
| Mphosph8 |
A |
T |
14: 56,910,003 (GRCm39) |
R119W |
probably damaging |
Het |
| Negr1 |
A |
G |
3: 156,267,929 (GRCm39) |
D33G |
probably benign |
Het |
| Or2l13b |
A |
G |
16: 19,348,845 (GRCm39) |
V275A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,831,780 (GRCm39) |
I92L |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,637,114 (GRCm39) |
D116G |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,185,401 (GRCm39) |
V733E |
probably damaging |
Het |
| Prorsd1 |
T |
A |
11: 29,463,467 (GRCm39) |
K98N |
probably benign |
Het |
| Rasal2 |
G |
T |
1: 156,991,394 (GRCm39) |
L611I |
probably damaging |
Het |
| Rffl |
G |
A |
11: 82,703,378 (GRCm39) |
R147C |
probably benign |
Het |
| Rpl27rt |
A |
T |
18: 34,870,795 (GRCm39) |
M110L |
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,045,763 (GRCm39) |
Y861* |
probably null |
Het |
| Stab2 |
T |
C |
10: 86,816,992 (GRCm39) |
D135G |
probably benign |
Het |
| Tada3 |
T |
C |
6: 113,352,973 (GRCm39) |
H12R |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,810,238 (GRCm39) |
D116G |
probably damaging |
Het |
|
| Other mutations in Six4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02045:Six4
|
APN |
12 |
73,155,429 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02678:Six4
|
APN |
12 |
73,159,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2473:Six4
|
UTSW |
12 |
73,150,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3409:Six4
|
UTSW |
12 |
73,159,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3410:Six4
|
UTSW |
12 |
73,159,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3411:Six4
|
UTSW |
12 |
73,159,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4175:Six4
|
UTSW |
12 |
73,155,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4176:Six4
|
UTSW |
12 |
73,155,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Six4
|
UTSW |
12 |
73,150,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4303:Six4
|
UTSW |
12 |
73,159,314 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5013:Six4
|
UTSW |
12 |
73,150,400 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5782:Six4
|
UTSW |
12 |
73,150,832 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5794:Six4
|
UTSW |
12 |
73,159,124 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6429:Six4
|
UTSW |
12 |
73,150,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6650:Six4
|
UTSW |
12 |
73,150,299 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7018:Six4
|
UTSW |
12 |
73,155,727 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7464:Six4
|
UTSW |
12 |
73,159,304 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7832:Six4
|
UTSW |
12 |
73,159,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Six4
|
UTSW |
12 |
73,151,013 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R7872:Six4
|
UTSW |
12 |
73,151,013 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R7873:Six4
|
UTSW |
12 |
73,151,013 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R7956:Six4
|
UTSW |
12 |
73,150,535 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8266:Six4
|
UTSW |
12 |
73,155,423 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8728:Six4
|
UTSW |
12 |
73,159,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9065:Six4
|
UTSW |
12 |
73,159,498 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9103:Six4
|
UTSW |
12 |
73,155,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Six4
|
UTSW |
12 |
73,155,681 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9148:Six4
|
UTSW |
12 |
73,155,681 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9430:Six4
|
UTSW |
12 |
73,150,719 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
RF012:Six4
|
UTSW |
12 |
73,150,356 (GRCm39) |
frame shift |
probably null |
|
|
RF013:Six4
|
UTSW |
12 |
73,150,356 (GRCm39) |
frame shift |
probably null |
|
|
RF014:Six4
|
UTSW |
12 |
73,150,356 (GRCm39) |
frame shift |
probably null |
|
|
RF015:Six4
|
UTSW |
12 |
73,150,356 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation