Incidental Mutation 'R6150:Six5'
| ID |
489186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Six5
|
| Ensembl Gene |
ENSMUSG00000040841 |
| Gene Name |
sine oculis-related homeobox 5 |
| Synonyms |
Dmahp, TrexBF, MDMAHP |
| MMRRC Submission |
044297-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.779)
|
| Stock # |
R6150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18828519-18832474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18831446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 646
(P646S)
|
| 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 benign
Transcript: ENSMUST00000049454
AA Change: P646S
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045973
Gene: ENSMUSG00000040841
AA Change: P646S
| 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: ENSMUST00000140742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137219
|
| 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 |
|
| Meta Mutation Damage Score |
0.0825 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (56/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
A |
G |
11: 61,104,334 (GRCm39) |
T74A |
probably benign |
Het |
| Arhgef1 |
T |
C |
7: 24,618,782 (GRCm39) |
|
probably null |
Het |
| Art1 |
C |
G |
7: 101,756,294 (GRCm39) |
R162G |
probably benign |
Het |
| Boll |
T |
A |
1: 55,309,812 (GRCm39) |
I280F |
possibly damaging |
Het |
| Cep44 |
T |
C |
8: 56,992,840 (GRCm39) |
E258G |
probably benign |
Het |
| Cutc |
T |
A |
19: 43,748,328 (GRCm39) |
V75E |
probably damaging |
Het |
| Dtx1 |
T |
C |
5: 120,819,428 (GRCm39) |
K590R |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,494,172 (GRCm39) |
D295E |
probably damaging |
Het |
| Erc2 |
C |
A |
14: 27,863,248 (GRCm39) |
S491Y |
probably damaging |
Het |
| F2rl3 |
G |
T |
8: 73,489,366 (GRCm39) |
A198S |
probably benign |
Het |
| Fam83b |
G |
A |
9: 76,399,639 (GRCm39) |
T488M |
probably damaging |
Het |
| Fitm2 |
A |
G |
2: 163,311,994 (GRCm39) |
L73P |
probably damaging |
Het |
| Fxyd1 |
T |
C |
7: 30,754,228 (GRCm39) |
|
probably null |
Het |
| Gm17186 |
T |
C |
14: 51,918,183 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep3 |
C |
A |
4: 119,591,274 (GRCm39) |
S94* |
probably null |
Het |
| Ifna1 |
T |
A |
4: 88,768,349 (GRCm39) |
M9K |
probably null |
Het |
| Igsf11 |
G |
A |
16: 38,843,711 (GRCm39) |
E275K |
probably damaging |
Het |
| Itga1 |
G |
A |
13: 115,104,769 (GRCm39) |
L1086F |
probably benign |
Het |
| Itgav |
T |
C |
2: 83,606,780 (GRCm39) |
S374P |
probably benign |
Het |
| Jmy |
A |
T |
13: 93,577,641 (GRCm39) |
N842K |
probably benign |
Het |
| Kcnh6 |
G |
A |
11: 105,911,557 (GRCm39) |
V595M |
possibly damaging |
Het |
| Kif13b |
T |
A |
14: 64,989,088 (GRCm39) |
I823N |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,743,111 (GRCm39) |
L1069P |
probably damaging |
Het |
| Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
| Kmt2b |
G |
T |
7: 30,287,902 (GRCm39) |
|
probably benign |
Het |
| Map10 |
G |
A |
8: 126,398,328 (GRCm39) |
D574N |
probably damaging |
Het |
| Mau2 |
A |
T |
8: 70,472,487 (GRCm39) |
H565Q |
probably benign |
Het |
| Myb |
A |
G |
10: 21,017,668 (GRCm39) |
I641T |
probably damaging |
Het |
| Naaladl2 |
C |
A |
3: 24,606,214 (GRCm39) |
G15V |
probably null |
Het |
| Or10k2 |
G |
A |
8: 84,267,782 (GRCm39) |
C3Y |
probably benign |
Het |
| Or3a4 |
A |
C |
11: 73,945,145 (GRCm39) |
S147A |
probably benign |
Het |
| Or6c210 |
A |
G |
10: 129,495,803 (GRCm39) |
I43V |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,170 (GRCm39) |
N78K |
probably benign |
Het |
| Otog |
A |
G |
7: 45,913,483 (GRCm39) |
E772G |
possibly damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,100,045 (GRCm39) |
D674G |
probably damaging |
Het |
| Pmpcb |
A |
G |
5: 21,942,137 (GRCm39) |
|
probably null |
Het |
| Pomk |
A |
G |
8: 26,473,284 (GRCm39) |
V223A |
possibly damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Serpina1e |
A |
G |
12: 103,917,066 (GRCm39) |
V201A |
probably benign |
Het |
| Slc17a9 |
A |
G |
2: 180,379,421 (GRCm39) |
I298V |
probably benign |
Het |
| Slc37a2 |
G |
T |
9: 37,149,643 (GRCm39) |
T188K |
probably damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,222,579 (GRCm39) |
F525I |
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,461,516 (GRCm39) |
D1504V |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,134,000 (GRCm39) |
M907K |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,463,313 (GRCm39) |
L3746P |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,271,501 (GRCm39) |
N376K |
possibly damaging |
Het |
| Tekt3 |
A |
T |
11: 62,985,483 (GRCm39) |
T430S |
possibly damaging |
Het |
| Tex2 |
A |
T |
11: 106,457,906 (GRCm39) |
V508D |
probably benign |
Het |
| Tmem184c |
G |
T |
8: 78,323,069 (GRCm39) |
Q598K |
probably benign |
Het |
| Ube2v1 |
G |
A |
2: 167,459,874 (GRCm39) |
R42* |
probably null |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
| Vangl1 |
T |
C |
3: 102,091,835 (GRCm39) |
T84A |
probably damaging |
Het |
| Vgll3 |
T |
A |
16: 65,625,064 (GRCm39) |
|
probably null |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,678 (GRCm39) |
H212L |
probably benign |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,269 (GRCm39) |
V737A |
probably benign |
Het |
| Vmn2r35 |
A |
T |
7: 7,789,555 (GRCm39) |
D727E |
probably damaging |
Het |
| Vps18 |
T |
A |
2: 119,128,073 (GRCm39) |
Y965* |
probably null |
Het |
| Zfp521 |
A |
T |
18: 13,977,135 (GRCm39) |
C1093S |
probably damaging |
Het |
| Zfp971 |
A |
C |
2: 177,675,247 (GRCm39) |
H282P |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATCACAGTGCCTGAAGGAGC -3'
(R):5'- AGTCACAGTTCCAAGGGCTC -3'
Sequencing Primer
(F):5'- CAGTGCCTGAAGGAGCTCTCC -3'
(R):5'- AGTTCCAAGGGCTCCTCCAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation