Incidental Mutation 'IGL02045:Six4'
ID |
184930 |
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 # |
IGL02045
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
73146383-73160201 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73155429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 505
(S505G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135699
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043208]
[ENSMUST00000175693]
|
AlphaFold |
Q61321 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043208
|
SMART Domains |
Protein: ENSMUSP00000036150 Gene: ENSMUSG00000034460
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: S505G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000135699 Gene: ENSMUSG00000034460 AA Change: S505G
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
C |
A |
5: 114,378,721 (GRCm39) |
H2044Q |
possibly damaging |
Het |
Ankrd12 |
A |
T |
17: 66,293,244 (GRCm39) |
S730T |
probably benign |
Het |
Ano9 |
A |
T |
7: 140,682,382 (GRCm39) |
N655K |
probably benign |
Het |
Ap1ar |
A |
T |
3: 127,609,298 (GRCm39) |
Y108N |
probably damaging |
Het |
Asap3 |
A |
G |
4: 135,954,752 (GRCm39) |
I55V |
probably benign |
Het |
Barx2 |
T |
C |
9: 31,770,094 (GRCm39) |
T145A |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,158,442 (GRCm39) |
|
probably null |
Het |
Ces2e |
C |
T |
8: 105,657,290 (GRCm39) |
|
probably benign |
Het |
Cflar |
T |
C |
1: 58,791,903 (GRCm39) |
I405T |
probably benign |
Het |
Cibar2 |
T |
A |
8: 120,896,461 (GRCm39) |
K174* |
probably null |
Het |
Cyp51 |
A |
G |
5: 4,133,247 (GRCm39) |
S464P |
probably damaging |
Het |
Ermard |
G |
A |
17: 15,271,826 (GRCm39) |
|
probably benign |
Het |
Glb1l2 |
T |
C |
9: 26,707,841 (GRCm39) |
T49A |
probably benign |
Het |
Gls |
A |
G |
1: 52,258,674 (GRCm39) |
V198A |
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,115,855 (GRCm39) |
I867N |
probably damaging |
Het |
Ighv1-14 |
A |
T |
12: 114,610,334 (GRCm39) |
|
noncoding transcript |
Het |
Iqsec1 |
T |
C |
6: 90,641,051 (GRCm39) |
K1022E |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,726,574 (GRCm39) |
T299A |
probably benign |
Het |
Nr2e3 |
A |
T |
9: 59,856,291 (GRCm39) |
M82K |
probably benign |
Het |
Ntpcr |
A |
G |
8: 126,472,191 (GRCm39) |
|
probably benign |
Het |
Or1e26 |
A |
G |
11: 73,480,058 (GRCm39) |
C169R |
probably damaging |
Het |
Or4d10b |
T |
C |
19: 12,036,253 (GRCm39) |
T288A |
possibly damaging |
Het |
Or52s6 |
A |
G |
7: 103,092,159 (GRCm39) |
L57P |
probably damaging |
Het |
Or5p80 |
A |
G |
7: 108,229,739 (GRCm39) |
D180G |
probably damaging |
Het |
Or6c70 |
A |
T |
10: 129,710,091 (GRCm39) |
D178E |
probably benign |
Het |
Prkcb |
A |
G |
7: 122,189,390 (GRCm39) |
D506G |
probably damaging |
Het |
Rasgef1a |
A |
G |
6: 118,066,404 (GRCm39) |
I470V |
probably benign |
Het |
Rbm27 |
A |
G |
18: 42,452,978 (GRCm39) |
E514G |
possibly damaging |
Het |
Rgs22 |
G |
A |
15: 36,013,300 (GRCm39) |
A1048V |
probably benign |
Het |
Secisbp2l |
A |
G |
2: 125,617,498 (GRCm39) |
F60L |
possibly damaging |
Het |
Skint1 |
T |
A |
4: 111,882,727 (GRCm39) |
V257E |
possibly damaging |
Het |
Smad9 |
A |
G |
3: 54,693,593 (GRCm39) |
N174S |
possibly damaging |
Het |
Smc2 |
A |
G |
4: 52,462,914 (GRCm39) |
N635D |
probably benign |
Het |
Stradb |
T |
A |
1: 59,028,937 (GRCm39) |
I135N |
probably damaging |
Het |
Syt12 |
T |
C |
19: 4,497,762 (GRCm39) |
T407A |
probably damaging |
Het |
Tmc8 |
T |
A |
11: 117,677,346 (GRCm39) |
I322N |
probably damaging |
Het |
Tnip1 |
A |
C |
11: 54,802,365 (GRCm39) |
*648G |
probably null |
Het |
Ttc3 |
T |
C |
16: 94,210,540 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Six4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01635:Six4
|
APN |
12 |
73,155,971 (GRCm39) |
missense |
probably benign |
0.32 |
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 |
2014-05-07 |