Incidental Mutation 'R6432:Six5'
| ID |
518587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Six5
|
| Ensembl Gene |
ENSMUSG00000040841 |
| Gene Name |
sine oculis-related homeobox 5 |
| Synonyms |
Dmahp, TrexBF, MDMAHP |
| MMRRC Submission |
044570-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.779)
|
| Stock # |
R6432 (G1)
|
| Quality Score |
214.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18828519-18832474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18830696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 441
(V441E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032568]
[ENSMUST00000049454]
[ENSMUST00000108473]
[ENSMUST00000108474]
[ENSMUST00000127433]
[ENSMUST00000141380]
[ENSMUST00000154199]
|
| 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: V441E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045973
Gene: ENSMUSG00000040841
AA Change: V441E
| 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: ENSMUST00000140742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142725
|
| 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 |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000135839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143938
|
| Meta Mutation Damage Score |
0.1082 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
100% (42/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora3 |
T |
A |
3: 105,814,991 (GRCm39) |
L101* |
probably null |
Het |
| Atf7ip2 |
T |
C |
16: 10,022,534 (GRCm39) |
I71T |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,322,512 (GRCm39) |
C206R |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,845,411 (GRCm39) |
L606P |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,639 (GRCm39) |
F574L |
probably damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,846,601 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
C |
A |
19: 47,668,847 (GRCm39) |
E126* |
probably null |
Het |
| Cxadr |
A |
C |
16: 78,122,147 (GRCm39) |
D49A |
probably damaging |
Het |
| Dact1 |
T |
C |
12: 71,365,327 (GRCm39) |
S703P |
probably damaging |
Het |
| Dchs2 |
T |
A |
3: 83,178,425 (GRCm39) |
H1159Q |
possibly damaging |
Het |
| Dnmt3a |
T |
A |
12: 3,952,399 (GRCm39) |
F697I |
probably damaging |
Het |
| Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
| Ear2 |
G |
T |
14: 44,340,660 (GRCm39) |
C106F |
probably damaging |
Het |
| Gnl2 |
A |
T |
4: 124,946,353 (GRCm39) |
I525F |
possibly damaging |
Het |
| Hsph1 |
C |
A |
5: 149,542,441 (GRCm39) |
K692N |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,664,116 (GRCm39) |
C489S |
possibly damaging |
Het |
| Kdm2b |
C |
T |
5: 123,018,254 (GRCm39) |
C1007Y |
probably damaging |
Het |
| Ly6m |
T |
C |
15: 74,751,813 (GRCm39) |
T74A |
probably benign |
Het |
| Mast4 |
T |
C |
13: 103,042,185 (GRCm39) |
S22G |
possibly damaging |
Het |
| Ms4a12 |
A |
G |
19: 11,192,376 (GRCm39) |
*264Q |
probably null |
Het |
| Myh8 |
G |
T |
11: 67,189,405 (GRCm39) |
A1194S |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,955,805 (GRCm39) |
N131K |
probably damaging |
Het |
| Or10g6 |
T |
C |
9: 39,933,824 (GRCm39) |
I45T |
probably damaging |
Het |
| Or5w13 |
A |
T |
2: 87,523,872 (GRCm39) |
M118K |
probably damaging |
Het |
| Rbm14 |
G |
T |
19: 4,853,191 (GRCm39) |
|
probably benign |
Het |
| Rnf130 |
T |
A |
11: 49,986,617 (GRCm39) |
C320* |
probably null |
Het |
| Rnf5 |
A |
G |
17: 34,821,101 (GRCm39) |
V77A |
possibly damaging |
Het |
| Sh3pxd2a |
G |
T |
19: 47,258,366 (GRCm39) |
P418T |
probably damaging |
Het |
| Shank3 |
G |
T |
15: 89,387,616 (GRCm39) |
V262F |
possibly damaging |
Het |
| Tbc1d9b |
T |
A |
11: 50,037,155 (GRCm39) |
I268N |
probably benign |
Het |
| Terb1 |
G |
A |
8: 105,212,078 (GRCm39) |
T301I |
possibly damaging |
Het |
| Tnxb |
A |
C |
17: 34,936,891 (GRCm39) |
D2820A |
probably damaging |
Het |
| Tram2 |
C |
T |
1: 21,074,457 (GRCm39) |
E242K |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,793 (GRCm39) |
K210E |
probably damaging |
Het |
| Tulp2 |
T |
A |
7: 45,168,012 (GRCm39) |
D141E |
probably benign |
Het |
| Umodl1 |
C |
T |
17: 31,205,121 (GRCm39) |
T572I |
probably benign |
Het |
| Upf2 |
C |
A |
2: 5,984,588 (GRCm39) |
A501E |
unknown |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,483 (GRCm39) |
T537A |
possibly damaging |
Het |
| Wdr11 |
T |
A |
7: 129,208,242 (GRCm39) |
D332E |
possibly damaging |
Het |
| Wdr38 |
A |
G |
2: 38,890,723 (GRCm39) |
N199S |
probably damaging |
Het |
| Zfp672 |
T |
A |
11: 58,207,758 (GRCm39) |
I188F |
possibly damaging |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGAATTCTCTGGTCCTGGAC -3'
(R):5'- TCAGGTGCACATTGGTAGGC -3'
Sequencing Primer
(F):5'- CTCAGACAGGAGAGGTTCGACTG -3'
(R):5'- ACATTGGTAGGCCCCGCTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation