Incidental Mutation 'IGL02468:Six2'
| ID |
294638 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Six2
|
| Ensembl Gene |
ENSMUSG00000024134 |
| Gene Name |
sine oculis-related homeobox 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
85991705-85995702 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85992931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 191
(E191K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024947]
[ENSMUST00000163568]
|
| AlphaFold |
Q62232 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024947
AA Change: E191K
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000024947
Gene: ENSMUSG00000024134
AA Change: E191K
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
125 |
186 |
8.72e-18 |
SMART |
|
low complexity region
|
228 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163568
AA Change: E191K
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125871
Gene: ENSMUSG00000024134
AA Change: E191K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIX1_SD
|
9 |
119 |
1.5e-52 |
PFAM |
|
HOX
|
125 |
186 |
8.72e-18 |
SMART |
|
low complexity region
|
228 |
269 |
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 is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die shortly after birth and exhibit abnormal kidney development. Abnormalities include small kidney, lack of ureteric bud branches throughout the kidney, increased apoptosis and premature and arrested nephron development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
A |
T |
3: 148,596,116 (GRCm39) |
D73E |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,408,688 (GRCm39) |
Y2525C |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cep89 |
T |
G |
7: 35,102,577 (GRCm39) |
S97A |
probably benign |
Het |
| Clec16a |
T |
A |
16: 10,559,742 (GRCm39) |
I1005N |
probably benign |
Het |
| Cog5 |
T |
C |
12: 31,887,357 (GRCm39) |
|
probably null |
Het |
| Crybg2 |
T |
C |
4: 133,809,898 (GRCm39) |
S1217P |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cytip |
A |
T |
2: 58,024,025 (GRCm39) |
M265K |
probably benign |
Het |
| Ddx60 |
T |
G |
8: 62,411,676 (GRCm39) |
S509R |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,037,195 (GRCm39) |
S3616P |
probably benign |
Het |
| Galnt9 |
T |
C |
5: 110,762,089 (GRCm39) |
F409S |
possibly damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,828 (GRCm39) |
V268A |
probably benign |
Het |
| Ifi47 |
T |
A |
11: 48,986,810 (GRCm39) |
S192R |
probably damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,034,114 (GRCm39) |
Y596H |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,364,348 (GRCm39) |
C1096R |
probably damaging |
Het |
| Marchf1 |
A |
G |
8: 66,871,563 (GRCm39) |
Q109R |
probably damaging |
Het |
| Or2y1d |
A |
T |
11: 49,321,941 (GRCm39) |
I213F |
probably damaging |
Het |
| Or7d9 |
T |
C |
9: 20,197,574 (GRCm39) |
L201P |
probably damaging |
Het |
| Or7g32 |
G |
T |
9: 19,408,473 (GRCm39) |
C143F |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,909,574 (GRCm39) |
V500D |
probably damaging |
Het |
| Pbx3 |
A |
T |
2: 34,114,589 (GRCm39) |
L57H |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,231 (GRCm39) |
V394A |
probably benign |
Het |
| Pogz |
A |
G |
3: 94,786,394 (GRCm39) |
N994S |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,187,040 (GRCm39) |
M406L |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,212,387 (GRCm39) |
S323G |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,121,504 (GRCm39) |
T854A |
probably benign |
Het |
| Puf60 |
A |
C |
15: 75,947,685 (GRCm39) |
|
probably benign |
Het |
| Tbc1d17 |
A |
G |
7: 44,497,753 (GRCm39) |
F40L |
probably benign |
Het |
| Tektip1 |
G |
T |
10: 81,201,563 (GRCm39) |
L20I |
possibly damaging |
Het |
| Thsd7a |
A |
G |
6: 12,318,170 (GRCm39) |
V1600A |
probably damaging |
Het |
| Tm4sf19 |
C |
A |
16: 32,226,533 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf1a |
A |
G |
6: 125,334,824 (GRCm39) |
T33A |
probably benign |
Het |
| Troap |
A |
T |
15: 98,973,242 (GRCm39) |
T3S |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,688,389 (GRCm39) |
I3074L |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
|
| Other mutations in Six2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Six2
|
APN |
17 |
85,995,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Six2
|
APN |
17 |
85,992,806 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
PIT4449001:Six2
|
UTSW |
17 |
85,992,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4812001:Six2
|
UTSW |
17 |
85,992,729 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2073:Six2
|
UTSW |
17 |
85,994,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2075:Six2
|
UTSW |
17 |
85,994,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2915:Six2
|
UTSW |
17 |
85,992,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3830:Six2
|
UTSW |
17 |
85,992,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5834:Six2
|
UTSW |
17 |
85,995,092 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7555:Six2
|
UTSW |
17 |
85,995,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7723:Six2
|
UTSW |
17 |
85,995,103 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8011:Six2
|
UTSW |
17 |
85,995,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Six2
|
UTSW |
17 |
85,992,763 (GRCm39) |
missense |
probably benign |
|
|
R9328:Six2
|
UTSW |
17 |
85,995,196 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9700:Six2
|
UTSW |
17 |
85,994,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Six2
|
UTSW |
17 |
85,992,884 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1177:Six2
|
UTSW |
17 |
85,995,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation