Incidental Mutation 'IGL01560:Six6'
| ID |
90825 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Six6
|
| Ensembl Gene |
ENSMUSG00000021099 |
| Gene Name |
sine oculis-related homeobox 6 |
| Synonyms |
Six9, Optx2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01560
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
72986666-72991673 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 72986831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021519]
[ENSMUST00000130635]
[ENSMUST00000132067]
[ENSMUST00000136075]
|
| AlphaFold |
Q9QZ28 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021519
AA Change: M1K
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021519
Gene: ENSMUSG00000021099
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIX1_SD
|
9 |
123 |
4.3e-50 |
PFAM |
|
HOX
|
129 |
190 |
5.5e-15 |
SMART |
|
low complexity region
|
219 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130635
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132067
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136075
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 12 and is thought to be involved in eye development. The encoded transcription factor regulates early progenitor cell proliferation during mammalian retinogenesis and pituitary development. Mice lacking this gene exhibit abnormal development of the suprachiasmatic nucleus and circadian rhythms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display retinal and pituitary hypoplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
A |
T |
17: 68,203,066 (GRCm39) |
I129N |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,944,106 (GRCm39) |
I266V |
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,726,897 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,821,163 (GRCm39) |
V1118I |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,491,792 (GRCm38) |
V791D |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,783,495 (GRCm39) |
D78G |
probably benign |
Het |
| Fem1al |
A |
T |
11: 29,774,643 (GRCm39) |
Y271* |
probably null |
Het |
| Flnb |
T |
G |
14: 7,893,829 (GRCm38) |
I714S |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,806,037 (GRCm39) |
M515T |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,015,547 (GRCm39) |
F1288Y |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,659,191 (GRCm39) |
I1868V |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,976,967 (GRCm39) |
D561G |
probably null |
Het |
| Mypn |
A |
T |
10: 62,970,743 (GRCm39) |
V887E |
probably benign |
Het |
| Or4c118 |
C |
T |
2: 88,974,947 (GRCm39) |
C140Y |
probably damaging |
Het |
| Or6p1 |
A |
T |
1: 174,258,467 (GRCm39) |
M158L |
probably benign |
Het |
| Or7g28 |
T |
C |
9: 19,271,842 (GRCm39) |
T270A |
probably benign |
Het |
| Osbpl5 |
C |
A |
7: 143,269,430 (GRCm39) |
E49* |
probably null |
Het |
| Prpf8 |
A |
G |
11: 75,381,232 (GRCm39) |
Q189R |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Slc13a4 |
A |
G |
6: 35,248,538 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
T |
A |
13: 24,058,612 (GRCm39) |
I22N |
probably damaging |
Het |
| Thsd7b |
C |
T |
1: 130,145,918 (GRCm39) |
|
probably benign |
Het |
| Thumpd3 |
A |
G |
6: 113,040,120 (GRCm39) |
I335V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,602,016 (GRCm39) |
T18549A |
possibly damaging |
Het |
| Ugt2b37 |
G |
T |
5: 87,399,698 (GRCm39) |
P270Q |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,105,352 (GRCm39) |
Y158* |
probably null |
Het |
| Zfp282 |
A |
T |
6: 47,857,211 (GRCm39) |
E148V |
probably damaging |
Het |
|
| Other mutations in Six6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1686:Six6
|
UTSW |
12 |
72,988,451 (GRCm39) |
missense |
probably benign |
|
|
R1920:Six6
|
UTSW |
12 |
72,988,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5391:Six6
|
UTSW |
12 |
72,988,475 (GRCm39) |
nonsense |
probably null |
|
|
R5395:Six6
|
UTSW |
12 |
72,988,475 (GRCm39) |
nonsense |
probably null |
|
|
R6879:Six6
|
UTSW |
12 |
72,987,298 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7890:Six6
|
UTSW |
12 |
72,987,317 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8077:Six6
|
UTSW |
12 |
72,987,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Six6
|
UTSW |
12 |
72,986,875 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8181:Six6
|
UTSW |
12 |
72,986,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9027:Six6
|
UTSW |
12 |
72,986,935 (GRCm39) |
missense |
|
|
|
| Posted On |
2013-12-09 |
Incidental Mutation