Incidental Mutation 'IGL00975:Six5'
| ID |
27928 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Six5
|
| Ensembl Gene |
ENSMUSG00000040841 |
| Gene Name |
sine oculis-related homeobox 5 |
| Synonyms |
Dmahp, TrexBF, MDMAHP |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.751)
|
| Stock # |
IGL00975
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18828519-18832474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18831603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 698
(L698P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032568]
[ENSMUST00000049454]
[ENSMUST00000108473]
[ENSMUST00000108474]
[ENSMUST00000127433]
[ENSMUST00000154199]
[ENSMUST00000141380]
|
| AlphaFold |
P70178 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032568
|
| SMART Domains |
Protein: ENSMUSP00000032568
Gene: ENSMUSG00000030409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
|
S_TKc
|
71 |
339 |
6.5e-87 |
SMART |
|
S_TK_X
|
340 |
407 |
3.6e-11 |
SMART |
|
Pfam:DMPK_coil
|
472 |
532 |
2.8e-25 |
PFAM |
|
low complexity region
|
590 |
613 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049454
AA Change: L698P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045973
Gene: ENSMUSG00000040841
AA Change: L698P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
14 |
48 |
N/A |
INTRINSIC |
|
Pfam:SIX1_SD
|
79 |
189 |
1.4e-43 |
PFAM |
|
HOX
|
194 |
256 |
3.11e-14 |
SMART |
|
low complexity region
|
300 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
687 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108473
|
| SMART Domains |
Protein: ENSMUSP00000104113
Gene: ENSMUSG00000030409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
|
S_TKc
|
71 |
339 |
1.36e-84 |
SMART |
|
S_TK_X
|
340 |
407 |
7.5e-9 |
SMART |
|
Pfam:DMPK_coil
|
472 |
532 |
2.2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108474
|
| SMART Domains |
Protein: ENSMUSP00000104114
Gene: ENSMUSG00000030409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
|
S_TKc
|
71 |
336 |
2.57e-76 |
SMART |
|
Pfam:DMPK_coil
|
446 |
506 |
2.4e-28 |
PFAM |
|
low complexity region
|
564 |
587 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126264
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127433
|
| SMART Domains |
Protein: ENSMUSP00000115597
Gene: ENSMUSG00000085601
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HLH
|
20 |
57 |
1e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140742
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154199
|
| SMART Domains |
Protein: ENSMUSP00000118459
Gene: ENSMUSG00000030409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
|
S_TKc
|
71 |
339 |
1.36e-84 |
SMART |
|
S_TK_X
|
340 |
402 |
5.3e-9 |
SMART |
|
Pfam:DMPK_coil
|
467 |
527 |
2.3e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141380
|
| SMART Domains |
Protein: ENSMUSP00000115575
Gene: ENSMUSG00000085601
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
20 |
74 |
6.84e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygous null mutants exhibit a high incidence of progressive cataracts with background-dependent penetrance. Heterozygotes exhibit a similar phenotype, but with reduced incidence and severity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn10 |
A |
T |
15: 85,220,666 (GRCm39) |
M1L |
probably benign |
Het |
| Atxn7l3 |
A |
G |
11: 102,185,807 (GRCm39) |
S3P |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,325,012 (GRCm39) |
D70G |
probably damaging |
Het |
| Col20a1 |
G |
A |
2: 180,634,271 (GRCm39) |
A79T |
probably damaging |
Het |
| Cycs |
T |
A |
6: 50,542,347 (GRCm39) |
D63V |
probably benign |
Het |
| Dis3 |
A |
G |
14: 99,316,670 (GRCm39) |
V855A |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,150,373 (GRCm39) |
I797F |
possibly damaging |
Het |
| Dpagt1 |
T |
C |
9: 44,243,949 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,227,393 (GRCm39) |
I1840T |
possibly damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,514,856 (GRCm39) |
|
probably benign |
Het |
| Fam20c |
C |
T |
5: 138,794,912 (GRCm39) |
H514Y |
probably benign |
Het |
| Fgd6 |
A |
T |
10: 93,969,938 (GRCm39) |
M1196L |
probably damaging |
Het |
| Fmo3 |
T |
C |
1: 162,791,599 (GRCm39) |
D226G |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,682,187 (GRCm39) |
L263P |
probably damaging |
Het |
| Gaa |
C |
A |
11: 119,165,509 (GRCm39) |
T333K |
possibly damaging |
Het |
| Gm10530 |
T |
C |
1: 159,512,444 (GRCm39) |
|
probably benign |
Het |
| Gm5458 |
A |
G |
14: 19,649,735 (GRCm39) |
L163P |
|
Het |
| Inpp5j |
T |
C |
11: 3,452,176 (GRCm39) |
N358S |
probably damaging |
Het |
| Ms4a8a |
A |
G |
19: 11,048,151 (GRCm39) |
L193P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,102,740 (GRCm39) |
K4511R |
probably benign |
Het |
| Odad1 |
A |
T |
7: 45,592,080 (GRCm39) |
K320I |
probably damaging |
Het |
| Or5an10 |
A |
G |
19: 12,276,149 (GRCm39) |
S116P |
probably damaging |
Het |
| Pcca |
A |
G |
14: 123,114,312 (GRCm39) |
D82G |
probably damaging |
Het |
| Pou2f3 |
T |
C |
9: 43,048,679 (GRCm39) |
T266A |
probably benign |
Het |
| Ppp1r26 |
T |
A |
2: 28,343,730 (GRCm39) |
L1120Q |
probably damaging |
Het |
| Pudp |
T |
G |
18: 50,701,349 (GRCm39) |
K128T |
probably damaging |
Het |
| Rcn1 |
T |
C |
2: 105,225,174 (GRCm39) |
T94A |
possibly damaging |
Het |
| Slc13a4 |
T |
A |
6: 35,251,910 (GRCm39) |
M461L |
probably benign |
Het |
| Slc30a9 |
T |
C |
5: 67,507,169 (GRCm39) |
V487A |
probably damaging |
Het |
| Tbx21 |
T |
C |
11: 96,990,908 (GRCm39) |
I257V |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,553,731 (GRCm39) |
D382G |
probably benign |
Het |
| Trim34b |
C |
A |
7: 103,978,859 (GRCm39) |
C35* |
probably null |
Het |
| Usp47 |
A |
G |
7: 111,692,577 (GRCm39) |
D1013G |
probably damaging |
Het |
|
| Other mutations in Six5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01543:Six5
|
APN |
7 |
18,830,272 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02643:Six5
|
APN |
7 |
18,831,455 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03137:Six5
|
APN |
7 |
18,831,072 (GRCm39) |
unclassified |
probably benign |
|
|
R0243:Six5
|
UTSW |
7 |
18,830,947 (GRCm39) |
splice site |
probably null |
|
|
R0410:Six5
|
UTSW |
7 |
18,830,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Six5
|
UTSW |
7 |
18,830,858 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2055:Six5
|
UTSW |
7 |
18,829,154 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3726:Six5
|
UTSW |
7 |
18,830,855 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4801:Six5
|
UTSW |
7 |
18,830,894 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4802:Six5
|
UTSW |
7 |
18,830,894 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4898:Six5
|
UTSW |
7 |
18,829,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6150:Six5
|
UTSW |
7 |
18,831,446 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6432:Six5
|
UTSW |
7 |
18,830,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6667:Six5
|
UTSW |
7 |
18,830,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6736:Six5
|
UTSW |
7 |
18,828,916 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7101:Six5
|
UTSW |
7 |
18,828,784 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7253:Six5
|
UTSW |
7 |
18,828,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Six5
|
UTSW |
7 |
18,828,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Six5
|
UTSW |
7 |
18,830,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8089:Six5
|
UTSW |
7 |
18,828,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8748:Six5
|
UTSW |
7 |
18,829,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9182:Six5
|
UTSW |
7 |
18,830,932 (GRCm39) |
missense |
probably benign |
|
|
R9283:Six5
|
UTSW |
7 |
18,829,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF007:Six5
|
UTSW |
7 |
18,828,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF030:Six5
|
UTSW |
7 |
18,828,725 (GRCm39) |
unclassified |
probably benign |
|
|
RF037:Six5
|
UTSW |
7 |
18,828,725 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation