Incidental Mutation 'IGL03137:Six5'
ID |
410600 |
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 # |
IGL03137
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
18828519-18832474 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 18831072 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118459
(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 benign
Transcript: ENSMUST00000049454
|
SMART Domains |
Protein: ENSMUSP00000045973 Gene: ENSMUSG00000040841
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: ENSMUST00000142725
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135839
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143938
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140742
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148380
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankub1 |
T |
C |
3: 57,597,778 (GRCm39) |
D64G |
probably damaging |
Het |
Apobec2 |
C |
T |
17: 48,730,303 (GRCm39) |
W121* |
probably null |
Het |
Arid2 |
A |
G |
15: 96,269,199 (GRCm39) |
N1104S |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,088,751 (GRCm39) |
M569K |
probably damaging |
Het |
Brap |
T |
C |
5: 121,803,156 (GRCm39) |
|
probably benign |
Het |
Cilp |
A |
C |
9: 65,185,450 (GRCm39) |
N515T |
probably benign |
Het |
Cpeb2 |
T |
A |
5: 43,419,067 (GRCm39) |
|
probably benign |
Het |
Creb1 |
C |
T |
1: 64,615,374 (GRCm39) |
T242I |
possibly damaging |
Het |
Ddx60 |
T |
C |
8: 62,441,117 (GRCm39) |
V1062A |
possibly damaging |
Het |
Dock8 |
A |
G |
19: 25,133,312 (GRCm39) |
E1153G |
probably benign |
Het |
Gk5 |
A |
G |
9: 96,058,345 (GRCm39) |
|
probably benign |
Het |
Gm5478 |
G |
T |
15: 101,552,817 (GRCm39) |
N60K |
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,252,242 (GRCm39) |
V904D |
probably damaging |
Het |
Hnmt |
T |
A |
2: 23,938,751 (GRCm39) |
H29L |
probably damaging |
Het |
Hsf1 |
A |
G |
15: 76,380,649 (GRCm39) |
|
probably benign |
Het |
Igkv1-122 |
C |
A |
6: 67,994,400 (GRCm39) |
T96K |
probably damaging |
Het |
Iyd |
T |
C |
10: 3,501,987 (GRCm39) |
I211T |
probably damaging |
Het |
Kcnn1 |
G |
T |
8: 71,303,381 (GRCm39) |
H34N |
probably damaging |
Het |
Krtap5-3 |
G |
T |
7: 141,755,946 (GRCm39) |
|
probably benign |
Het |
Map3k19 |
C |
T |
1: 127,752,052 (GRCm39) |
R433K |
probably benign |
Het |
Mss51 |
A |
C |
14: 20,537,200 (GRCm39) |
C89W |
probably damaging |
Het |
Myh9 |
A |
T |
15: 77,675,289 (GRCm39) |
I276N |
probably damaging |
Het |
Myof |
T |
C |
19: 37,963,337 (GRCm39) |
E420G |
probably damaging |
Het |
Nfatc2ip |
C |
A |
7: 125,989,740 (GRCm39) |
V215L |
possibly damaging |
Het |
Or10ag52 |
A |
T |
2: 87,043,500 (GRCm39) |
Y88F |
probably benign |
Het |
Or51m1 |
T |
C |
7: 103,578,801 (GRCm39) |
M257T |
probably benign |
Het |
Or5d18 |
G |
A |
2: 87,864,754 (GRCm39) |
A243V |
probably benign |
Het |
Pcdhb4 |
T |
C |
18: 37,441,569 (GRCm39) |
I293T |
probably damaging |
Het |
Pdcd6ip |
A |
G |
9: 113,486,213 (GRCm39) |
S729P |
possibly damaging |
Het |
Pick1 |
C |
A |
15: 79,129,501 (GRCm39) |
H169N |
possibly damaging |
Het |
Ppp4r4 |
A |
C |
12: 103,547,643 (GRCm39) |
K212T |
probably damaging |
Het |
Racgap1 |
A |
G |
15: 99,526,622 (GRCm39) |
S314P |
probably damaging |
Het |
Rasef |
C |
A |
4: 73,652,720 (GRCm39) |
E594* |
probably null |
Het |
Ryr3 |
T |
G |
2: 112,740,742 (GRCm39) |
K522Q |
probably benign |
Het |
Shoc1 |
G |
T |
4: 59,094,162 (GRCm39) |
F187L |
probably benign |
Het |
Slc26a9 |
G |
T |
1: 131,691,615 (GRCm39) |
E619D |
probably benign |
Het |
Sqor |
A |
G |
2: 122,649,991 (GRCm39) |
I412V |
probably benign |
Het |
Srrt |
T |
A |
5: 137,294,379 (GRCm39) |
|
probably benign |
Het |
Sult1e1 |
C |
T |
5: 87,726,475 (GRCm39) |
R213K |
probably benign |
Het |
Tmc2 |
T |
A |
2: 130,082,050 (GRCm39) |
L411H |
probably damaging |
Het |
Tmem63b |
T |
A |
17: 45,975,921 (GRCm39) |
N511Y |
probably damaging |
Het |
Ucp3 |
T |
A |
7: 100,131,969 (GRCm39) |
|
probably benign |
Het |
Vmn1r201 |
A |
T |
13: 22,658,974 (GRCm39) |
I63F |
probably benign |
Het |
Vps13c |
G |
T |
9: 67,797,662 (GRCm39) |
L522F |
probably damaging |
Het |
Wwp1 |
T |
A |
4: 19,678,408 (GRCm39) |
T3S |
probably damaging |
Het |
Zc3hav1 |
A |
G |
6: 38,309,329 (GRCm39) |
S498P |
probably benign |
Het |
|
Other mutations in Six5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00975:Six5
|
APN |
7 |
18,831,603 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2016-08-02 |