Incidental Mutation 'R6781:Sass6'
| ID |
531406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sass6
|
| Ensembl Gene |
ENSMUSG00000027959 |
| Gene Name |
SAS-6 centriolar assembly protein |
| Synonyms |
2810453L12Rik |
| MMRRC Submission |
044895-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R6781 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116388631-116424653 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to G
at 116388773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029571]
[ENSMUST00000041524]
[ENSMUST00000134761]
[ENSMUST00000183638]
[ENSMUST00000184963]
[ENSMUST00000197190]
[ENSMUST00000197335]
[ENSMUST00000198311]
[ENSMUST00000198386]
[ENSMUST00000198454]
|
| AlphaFold |
Q80UK7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000029571
AA Change: V4G
|
| SMART Domains |
Protein: ENSMUSP00000029571
Gene: ENSMUSG00000027959
AA Change: V4G
| 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 |
probably benign
Transcript: ENSMUST00000134761
|
| SMART Domains |
Protein: ENSMUSP00000138761
Gene: ENSMUSG00000033439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-U11-48K
|
16 |
42 |
1.6e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183638
|
| SMART Domains |
Protein: ENSMUSP00000139223
Gene: ENSMUSG00000033439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRM13_CCCH
|
16 |
46 |
1.4e-17 |
PFAM |
|
Pfam:zf-U11-48K
|
55 |
81 |
1.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184963
|
| SMART Domains |
Protein: ENSMUSP00000138868
Gene: ENSMUSG00000033439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRM13_CCCH
|
16 |
46 |
2.9e-17 |
PFAM |
|
Pfam:zf-U11-48K
|
55 |
81 |
2.3e-12 |
PFAM |
|
Pfam:TRM13
|
165 |
285 |
3.4e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197190
|
| SMART Domains |
Protein: ENSMUSP00000143637
Gene: ENSMUSG00000033439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRM13
|
116 |
179 |
5.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197335
|
| SMART Domains |
Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959
| 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 |
unknown
Transcript: ENSMUST00000198311
AA Change: V4G
|
| SMART Domains |
Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959
AA Change: V4G
| 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 |
unknown
Transcript: ENSMUST00000198386
AA Change: V4G
|
| SMART Domains |
Protein: ENSMUSP00000143175
Gene: ENSMUSG00000027959
AA Change: V4G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198454
|
| SMART Domains |
Protein: ENSMUSP00000142410
Gene: ENSMUSG00000033439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRM13_CCCH
|
16 |
46 |
1.9e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.1015 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (45/46) |
| 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 |
|---|
| Abca3 |
T |
A |
17: 24,593,380 (GRCm39) |
I259N |
possibly damaging |
Het |
| Acot12 |
G |
T |
13: 91,932,531 (GRCm39) |
|
probably null |
Het |
| AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
| Amigo3 |
T |
C |
9: 107,931,162 (GRCm39) |
L195P |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,284,268 (GRCm39) |
D556V |
probably benign |
Het |
| Arhgef40 |
A |
C |
14: 52,235,354 (GRCm39) |
|
probably benign |
Het |
| Asb15 |
T |
C |
6: 24,558,674 (GRCm39) |
V63A |
probably benign |
Het |
| Bicd1 |
T |
C |
6: 149,414,664 (GRCm39) |
I459T |
possibly damaging |
Het |
| Bub1 |
C |
A |
2: 127,649,777 (GRCm39) |
G694W |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,961,928 (GRCm39) |
I106N |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,628,562 (GRCm39) |
I382V |
probably benign |
Het |
| Cntnap5a |
A |
C |
1: 116,220,127 (GRCm39) |
S646R |
probably benign |
Het |
| Cntnap5c |
C |
T |
17: 58,445,648 (GRCm39) |
Q563* |
probably null |
Het |
| Cpn1 |
A |
G |
19: 43,969,343 (GRCm39) |
F107L |
possibly damaging |
Het |
| Csrnp3 |
T |
A |
2: 65,852,615 (GRCm39) |
C336S |
probably benign |
Het |
| Defa3 |
T |
A |
8: 21,778,277 (GRCm39) |
M87K |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,124,511 (GRCm39) |
D1110G |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,648,291 (GRCm39) |
F274L |
probably benign |
Het |
| Dnah8 |
TTA |
TTATA |
17: 30,984,698 (GRCm39) |
|
probably null |
Het |
| Dnase2b |
T |
C |
3: 146,288,126 (GRCm39) |
H323R |
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,371,571 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,158,958 (GRCm39) |
N2269S |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,590,043 (GRCm39) |
M59K |
possibly damaging |
Het |
| Fpr3 |
T |
C |
17: 18,190,978 (GRCm39) |
V83A |
probably benign |
Het |
| Frmd6 |
A |
G |
12: 70,946,417 (GRCm39) |
D615G |
possibly damaging |
Het |
| Gfra3 |
T |
C |
18: 34,844,375 (GRCm39) |
K55R |
possibly damaging |
Het |
| Gm5414 |
A |
T |
15: 101,534,096 (GRCm39) |
S296T |
possibly damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,258,369 (GRCm39) |
K1234* |
probably null |
Het |
| Hltf |
T |
A |
3: 20,152,330 (GRCm39) |
Y609N |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ift74 |
A |
G |
4: 94,515,539 (GRCm39) |
D152G |
probably damaging |
Het |
| Kcnk6 |
T |
C |
7: 28,924,480 (GRCm39) |
Y308C |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,141,347 (GRCm39) |
S546P |
probably damaging |
Het |
| Map7d1 |
AGGGCAGCC |
AGGGCAGCCGGGCAGCC |
4: 126,134,544 (GRCm39) |
|
probably null |
Het |
| Meis2 |
T |
A |
2: 115,879,636 (GRCm39) |
H228L |
probably benign |
Het |
| Mfsd10 |
A |
T |
5: 34,791,853 (GRCm39) |
M344K |
possibly damaging |
Het |
| Mrps33 |
T |
C |
6: 39,782,757 (GRCm39) |
|
probably benign |
Het |
| Or2a52 |
A |
G |
6: 43,144,322 (GRCm39) |
E110G |
probably damaging |
Het |
| Or4p23 |
A |
T |
2: 88,577,174 (GRCm39) |
N19K |
probably benign |
Het |
| Pik3cb |
T |
C |
9: 98,923,045 (GRCm39) |
T996A |
possibly damaging |
Het |
| Plekha7 |
A |
G |
7: 115,757,090 (GRCm39) |
|
probably null |
Het |
| Ppp1cb |
A |
G |
5: 32,638,106 (GRCm39) |
Y86C |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,230,928 (GRCm39) |
I218F |
probably damaging |
Het |
| Tcf23 |
C |
T |
5: 31,126,304 (GRCm39) |
P61L |
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zc3h6 |
T |
C |
2: 128,857,341 (GRCm39) |
F620S |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACGGAAATGACGCATCAGC -3'
(R):5'- CAAAGGTATCCATTAAGTCCGCAG -3'
Sequencing Primer
(F):5'- TGGCTGACGAGGTCCAAAGC -3'
(R):5'- GGGTCCCTTCCCGATTCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation