Incidental Mutation 'IGL00732:Sass6'
| ID |
277863 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sass6
|
| Ensembl Gene |
ENSMUSG00000027959 |
| Gene Name |
SAS-6 centriolar assembly protein |
| Synonyms |
2810453L12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
IGL00732
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
116388631-116424653 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116411977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 312
(E312K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029571]
[ENSMUST00000041524]
[ENSMUST00000197335]
[ENSMUST00000198311]
[ENSMUST00000198386]
|
| AlphaFold |
Q80UK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029571
|
| SMART Domains |
Protein: ENSMUSP00000029571
Gene: ENSMUSG00000027959
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:SAS-6_N
|
44 |
141 |
1.7e-29 |
PFAM |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
415 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
644 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041524
|
| SMART Domains |
Protein: ENSMUSP00000047320
Gene: ENSMUSG00000033439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRM13_CCCH
|
17 |
45 |
7.2e-17 |
PFAM |
|
Pfam:zf-U11-48K
|
56 |
80 |
3.4e-12 |
PFAM |
|
Pfam:TRM13
|
165 |
469 |
7e-96 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126546
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196619
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197063
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197335
AA Change: E277K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959
AA Change: E277K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2Y3W|C
|
7 |
136 |
3e-48 |
PDB |
|
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
|
coiled coil region
|
380 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
609 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198103
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198311
AA Change: E312K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959
AA Change: E312K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
PDB:2Y3W|C
|
15 |
171 |
9e-62 |
PDB |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
415 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
644 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198386
AA Change: E312K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143175
Gene: ENSMUSG00000027959
AA Change: E312K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
PDB:2Y3W|C
|
15 |
171 |
1e-62 |
PDB |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
415 |
471 |
N/A |
INTRINSIC |
|
| 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 central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 8 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,875,615 (GRCm39) |
Y479C |
probably damaging |
Het |
| Jph1 |
A |
G |
1: 17,161,964 (GRCm39) |
S233P |
probably damaging |
Het |
| Nrip1 |
G |
A |
16: 76,089,949 (GRCm39) |
T536I |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,963,735 (GRCm39) |
A925V |
possibly damaging |
Het |
| Prps2 |
A |
T |
X: 166,157,138 (GRCm39) |
I56N |
possibly damaging |
Het |
| Zfp1 |
G |
A |
8: 112,397,050 (GRCm39) |
G324D |
probably damaging |
Het |
| Zfp282 |
C |
T |
6: 47,857,324 (GRCm39) |
P186S |
probably damaging |
Het |
|
| Other mutations in Sass6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00755:Sass6
|
APN |
3 |
116,411,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01067:Sass6
|
APN |
3 |
116,407,605 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01563:Sass6
|
APN |
3 |
116,398,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB003:Sass6
|
UTSW |
3 |
116,422,419 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
BB013:Sass6
|
UTSW |
3 |
116,422,419 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0388:Sass6
|
UTSW |
3 |
116,400,957 (GRCm39) |
splice site |
probably benign |
|
|
R0918:Sass6
|
UTSW |
3 |
116,397,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1557:Sass6
|
UTSW |
3 |
116,412,381 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1681:Sass6
|
UTSW |
3 |
116,397,122 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1742:Sass6
|
UTSW |
3 |
116,401,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Sass6
|
UTSW |
3 |
116,403,945 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4839:Sass6
|
UTSW |
3 |
116,403,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5087:Sass6
|
UTSW |
3 |
116,403,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Sass6
|
UTSW |
3 |
116,407,702 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5508:Sass6
|
UTSW |
3 |
116,413,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5615:Sass6
|
UTSW |
3 |
116,401,135 (GRCm39) |
missense |
probably benign |
|
|
R5642:Sass6
|
UTSW |
3 |
116,401,145 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6478:Sass6
|
UTSW |
3 |
116,415,046 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6781:Sass6
|
UTSW |
3 |
116,388,773 (GRCm39) |
unclassified |
probably benign |
|
|
R7457:Sass6
|
UTSW |
3 |
116,413,813 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7926:Sass6
|
UTSW |
3 |
116,422,419 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8836:Sass6
|
UTSW |
3 |
116,407,598 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8854:Sass6
|
UTSW |
3 |
116,399,384 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8941:Sass6
|
UTSW |
3 |
116,407,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9047:Sass6
|
UTSW |
3 |
116,407,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9285:Sass6
|
UTSW |
3 |
116,422,354 (GRCm39) |
splice site |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation