Incidental Mutation 'R3726:Six5'
| ID |
270788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Six5
|
| Ensembl Gene |
ENSMUSG00000040841 |
| Gene Name |
sine oculis-related homeobox 5 |
| Synonyms |
Dmahp, TrexBF, MDMAHP |
| MMRRC Submission |
040717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.779)
|
| Stock # |
R3726 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18828519-18832474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18830855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 494
(V494E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000049454
AA Change: V494E
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045973
Gene: ENSMUSG00000040841
AA Change: V494E
| 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: ENSMUST00000137219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143938
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142725
|
| 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 |
|
| Meta Mutation Damage Score |
0.1006 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (49/49) |
| 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 |
|---|
| 4930402K13Rik |
AGAGGAG |
AGAG |
X: 8,971,342 (GRCm39) |
|
probably benign |
Het |
| Caap1 |
A |
T |
4: 94,389,380 (GRCm39) |
V318D |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,653,785 (GRCm39) |
L485P |
probably damaging |
Het |
| Ccsap |
T |
C |
8: 124,586,100 (GRCm39) |
E17G |
possibly damaging |
Het |
| Cdk5rap2 |
C |
A |
4: 70,153,674 (GRCm39) |
K1716N |
possibly damaging |
Het |
| Coq3 |
T |
C |
4: 21,892,941 (GRCm39) |
|
probably benign |
Het |
| Daam2 |
T |
A |
17: 49,776,766 (GRCm39) |
D773V |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fam209 |
T |
C |
2: 172,315,915 (GRCm39) |
S97P |
probably benign |
Het |
| Fam50b |
G |
A |
13: 34,930,869 (GRCm39) |
R115H |
probably damaging |
Het |
| Fbxo31 |
A |
G |
8: 122,305,248 (GRCm39) |
F83L |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,819,311 (GRCm39) |
A5015S |
possibly damaging |
Het |
| Galnt13 |
A |
G |
2: 54,988,669 (GRCm39) |
H497R |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,744,920 (GRCm39) |
C201R |
possibly damaging |
Het |
| Gm8730 |
T |
C |
8: 103,591,664 (GRCm39) |
|
noncoding transcript |
Het |
| Gsr |
A |
G |
8: 34,161,565 (GRCm39) |
K124R |
probably benign |
Het |
| Hdgf |
T |
C |
3: 87,821,804 (GRCm39) |
S140P |
probably benign |
Het |
| Iqcg |
C |
T |
16: 32,849,411 (GRCm39) |
E292K |
probably damaging |
Het |
| Lamb1 |
C |
T |
12: 31,371,074 (GRCm39) |
A1375V |
probably null |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,925,310 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Or6c212 |
A |
T |
10: 129,558,984 (GRCm39) |
V143D |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,534,654 (GRCm39) |
L216P |
possibly damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,581,010 (GRCm39) |
|
probably null |
Het |
| Ptprm |
G |
A |
17: 67,263,855 (GRCm39) |
P464L |
possibly damaging |
Het |
| Rars2 |
A |
G |
4: 34,645,787 (GRCm39) |
T235A |
probably benign |
Het |
| Rimkla |
A |
T |
4: 119,334,986 (GRCm39) |
|
probably null |
Het |
| Rnf216 |
A |
T |
5: 143,013,701 (GRCm39) |
I708N |
probably damaging |
Het |
| Slc43a2 |
A |
G |
11: 75,433,980 (GRCm39) |
|
probably benign |
Het |
| Slmap |
C |
A |
14: 26,148,397 (GRCm39) |
R671S |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,665,755 (GRCm39) |
F751S |
possibly damaging |
Het |
| Sptan1 |
G |
A |
2: 29,908,431 (GRCm39) |
D1711N |
possibly damaging |
Het |
| Sptssa |
T |
C |
12: 54,703,180 (GRCm39) |
E30G |
probably damaging |
Het |
| Taf1c |
A |
G |
8: 120,329,809 (GRCm39) |
F111L |
probably damaging |
Het |
| Thbs1 |
A |
G |
2: 117,945,191 (GRCm39) |
I255V |
probably benign |
Het |
| Tmem19 |
A |
G |
10: 115,195,675 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tmod1 |
T |
C |
4: 46,097,026 (GRCm39) |
V273A |
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,255,918 (GRCm39) |
Y191F |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,844,621 (GRCm39) |
I934V |
probably damaging |
Het |
| Vpreb3 |
G |
A |
10: 75,779,125 (GRCm39) |
|
probably null |
Het |
| Vwf |
G |
T |
6: 125,654,911 (GRCm39) |
|
probably benign |
Het |
| Wdr53 |
T |
C |
16: 32,075,538 (GRCm39) |
C248R |
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,961,130 (GRCm39) |
V399A |
probably damaging |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTACTGGAGAGGAAATCCCAG -3'
(R):5'- CCAGTAGGCTTAACTCCAAGAG -3'
Sequencing Primer
(F):5'- TGCCCCAAGTAGTCCCAG -3'
(R):5'- CTTAACTCCAAGAGACTATCAGGTGG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation