Incidental Mutation 'R7926:Sass6'
| ID |
643317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sass6
|
| Ensembl Gene |
ENSMUSG00000027959 |
| Gene Name |
SAS-6 centriolar assembly protein |
| Synonyms |
2810453L12Rik |
| MMRRC Submission |
045973-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R7926 (G1)
|
| Quality Score |
999 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
116388631-116424653 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116422419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 641
(S641T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029570]
[ENSMUST00000029571]
[ENSMUST00000197335]
[ENSMUST00000198311]
|
| AlphaFold |
Q80UK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029570
|
| SMART Domains |
Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
40 |
388 |
3.4e-33 |
PFAM |
|
Pfam:MFS_2
|
182 |
407 |
3.6e-10 |
PFAM |
|
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
| 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 |
possibly damaging
Transcript: ENSMUST00000197335
AA Change: S606T
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959
AA Change: S606T
| 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 |
possibly damaging
Transcript: ENSMUST00000198311
AA Change: S641T
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959
AA Change: S641T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| BC016579 |
C |
A |
16: 45,449,825 (GRCm39) |
D198Y |
probably damaging |
Het |
| Cep170 |
A |
G |
1: 176,588,979 (GRCm39) |
S549P |
probably damaging |
Het |
| Cnih3 |
T |
C |
1: 181,277,566 (GRCm39) |
L96P |
probably damaging |
Het |
| Cnn2 |
T |
A |
10: 79,829,160 (GRCm39) |
L168Q |
probably damaging |
Het |
| Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
A |
G |
9: 114,446,883 (GRCm39) |
C398R |
probably damaging |
Het |
| Dcaf4 |
C |
A |
12: 83,580,703 (GRCm39) |
Y212* |
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,335,326 (GRCm39) |
T665A |
probably benign |
Het |
| Dnmt1 |
C |
A |
9: 20,818,855 (GRCm39) |
A1609S |
unknown |
Het |
| Dzip1 |
T |
C |
14: 119,120,911 (GRCm39) |
D682G |
probably benign |
Het |
| Fam76a |
A |
G |
4: 132,629,405 (GRCm39) |
L249P |
probably damaging |
Het |
| Fgf10 |
T |
C |
13: 118,925,752 (GRCm39) |
M177T |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Hoxa13 |
CG |
CGAG |
6: 52,237,619 (GRCm39) |
|
probably null |
Het |
| Itln1 |
G |
A |
1: 171,359,261 (GRCm39) |
T73I |
probably benign |
Het |
| Jkamp |
T |
C |
12: 72,141,590 (GRCm39) |
Y197H |
probably damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lcor |
T |
C |
19: 41,571,008 (GRCm39) |
F67S |
probably benign |
Het |
| Lmf2 |
G |
A |
15: 89,236,624 (GRCm39) |
P514L |
probably damaging |
Het |
| Lmntd2 |
G |
T |
7: 140,790,258 (GRCm39) |
P610Q |
probably damaging |
Het |
| Map3k3 |
T |
C |
11: 106,036,548 (GRCm39) |
S225P |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,146,335 (GRCm39) |
Y182H |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,298,869 (GRCm39) |
V2055A |
possibly damaging |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Myh8 |
C |
T |
11: 67,169,732 (GRCm39) |
P17L |
possibly damaging |
Het |
| Myt1l |
T |
A |
12: 29,861,651 (GRCm39) |
D144E |
unknown |
Het |
| Nfatc1 |
T |
C |
18: 80,740,881 (GRCm39) |
Y373C |
probably damaging |
Het |
| Pacs2 |
C |
T |
12: 113,024,372 (GRCm39) |
L418F |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,996,207 (GRCm39) |
I24T |
unknown |
Het |
| Pdcl |
C |
T |
2: 37,242,249 (GRCm39) |
G167E |
probably damaging |
Het |
| Pdcl |
A |
C |
2: 37,242,251 (GRCm39) |
S166R |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Qsox1 |
C |
T |
1: 155,688,533 (GRCm39) |
G5S |
unknown |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Six1 |
T |
C |
12: 73,090,583 (GRCm39) |
N194S |
probably benign |
Het |
| Tagap |
T |
C |
17: 8,145,770 (GRCm39) |
|
probably null |
Het |
| Tiparp |
T |
C |
3: 65,460,946 (GRCm39) |
V645A |
possibly damaging |
Het |
| Tm2d2 |
T |
C |
8: 25,510,480 (GRCm39) |
V113A |
probably damaging |
Het |
| Tmprss6 |
C |
A |
15: 78,337,050 (GRCm39) |
R352L |
probably benign |
Het |
| Tslp |
A |
G |
18: 32,950,246 (GRCm39) |
E105G |
possibly damaging |
Het |
| Ttc41 |
A |
G |
10: 86,611,911 (GRCm39) |
E1093G |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,460,797 (GRCm39) |
R2686H |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,627,036 (GRCm39) |
Y541N |
probably damaging |
Het |
| Vmn2r125 |
A |
G |
4: 156,702,988 (GRCm39) |
D122G |
probably damaging |
Het |
|
| Other mutations in Sass6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00732:Sass6
|
APN |
3 |
116,411,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAATCTGTTGAGTGACTCAG -3'
(R):5'- TCCCTAAGCAGACCAACTGG -3'
Sequencing Primer
(F):5'- AGAATCTGTTGAGTGACTCAGGTGAG -3'
(R):5'- GGTAAGAATCTGATACAATCCAGTG -3'
|
| Posted On |
2020-08-07 |
Incidental Mutation