Incidental Mutation 'R2038:Slc33a1'
| ID |
225277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc33a1
|
| Ensembl Gene |
ENSMUSG00000027822 |
| Gene Name |
solute carrier family 33 (acetyl-CoA transporter), member 1 |
| Synonyms |
Acatn, D630022N01Rik |
| MMRRC Submission |
040045-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R2038 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
63849744-63872154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63855577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 356
(L356P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029402]
[ENSMUST00000160883]
[ENSMUST00000161659]
|
| AlphaFold |
Q99J27 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029402
AA Change: L356P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029402
Gene: ENSMUSG00000027822
AA Change: L356P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acatn
|
74 |
292 |
2.4e-77 |
PFAM |
|
Pfam:Acatn
|
282 |
546 |
7.1e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160883
AA Change: L356P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125713
Gene: ENSMUSG00000027822
AA Change: L356P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acatn
|
74 |
290 |
6e-61 |
PFAM |
|
transmembrane domain
|
299 |
321 |
N/A |
INTRINSIC |
|
transmembrane domain
|
345 |
367 |
N/A |
INTRINSIC |
|
Pfam:Acatn
|
374 |
547 |
3.7e-35 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161659
AA Change: L356P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123986
Gene: ENSMUSG00000027822
AA Change: L356P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acatn
|
74 |
290 |
6e-61 |
PFAM |
|
transmembrane domain
|
299 |
321 |
N/A |
INTRINSIC |
|
transmembrane domain
|
345 |
367 |
N/A |
INTRINSIC |
|
Pfam:Acatn
|
374 |
547 |
3.7e-35 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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 required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a serine to arginine substitution at amino acid 113 show early embryonic growth arrest. Adult heterozygotes display aberrant inflammatory response, increased propensity to infections and malignancies, degenerative features of the PNS and CNS, and abnormal induction of autophagy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
T |
C |
8: 125,389,762 (GRCm39) |
Y54C |
probably damaging |
Het |
| Adgrf4 |
A |
T |
17: 42,978,754 (GRCm39) |
H196Q |
probably damaging |
Het |
| Astn1 |
T |
G |
1: 158,484,690 (GRCm39) |
S918A |
probably benign |
Het |
| Cd79a |
A |
T |
7: 24,598,782 (GRCm39) |
K110N |
probably benign |
Het |
| Cdc34b |
C |
T |
11: 94,633,114 (GRCm39) |
Q105* |
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,148,366 (GRCm39) |
D2667G |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,224,775 (GRCm39) |
G168R |
probably damaging |
Het |
| Col8a2 |
T |
C |
4: 126,205,108 (GRCm39) |
|
probably benign |
Het |
| Ddx27 |
G |
A |
2: 166,875,675 (GRCm39) |
E669K |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,977,255 (GRCm39) |
I2898F |
probably damaging |
Het |
| Dus2 |
T |
C |
8: 106,775,294 (GRCm39) |
Y274H |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,967,226 (GRCm39) |
S4073P |
probably damaging |
Het |
| Dynlrb2 |
G |
A |
8: 117,241,549 (GRCm39) |
R31Q |
possibly damaging |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Fhdc1 |
A |
T |
3: 84,351,868 (GRCm39) |
L1119Q |
probably benign |
Het |
| H2-T10 |
T |
C |
17: 36,430,317 (GRCm39) |
K212E |
probably benign |
Het |
| H60b |
A |
T |
10: 22,162,114 (GRCm39) |
N113I |
probably benign |
Het |
| Hace1 |
A |
C |
10: 45,576,721 (GRCm39) |
K798Q |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,696,151 (GRCm39) |
R631H |
probably damaging |
Het |
| Kat7 |
T |
A |
11: 95,190,928 (GRCm39) |
I153F |
probably benign |
Het |
| Lman1 |
T |
C |
18: 66,131,681 (GRCm39) |
T101A |
probably benign |
Het |
| Mapk8 |
A |
T |
14: 33,110,893 (GRCm39) |
C245* |
probably null |
Het |
| Mfhas1 |
T |
A |
8: 36,058,431 (GRCm39) |
W969R |
probably damaging |
Het |
| Mlxipl |
A |
T |
5: 135,135,853 (GRCm39) |
D26V |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,265,016 (GRCm39) |
V53A |
probably benign |
Het |
| Msl2 |
C |
A |
9: 100,979,183 (GRCm39) |
A519D |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,245,503 (GRCm39) |
S176G |
probably benign |
Het |
| Ninl |
T |
A |
2: 150,817,763 (GRCm39) |
K134* |
probably null |
Het |
| Or10d1 |
A |
G |
9: 39,484,283 (GRCm39) |
S91P |
probably damaging |
Het |
| Or1e25 |
T |
A |
11: 73,494,239 (GRCm39) |
Y278N |
probably damaging |
Het |
| Or4a68 |
C |
A |
2: 89,269,689 (GRCm39) |
M311I |
probably benign |
Het |
| Pabpn1 |
T |
G |
14: 55,134,609 (GRCm39) |
I250S |
probably damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,542,539 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,025 (GRCm39) |
S316P |
possibly damaging |
Het |
| Scn7a |
C |
A |
2: 66,567,780 (GRCm39) |
W271C |
probably damaging |
Het |
| Set |
T |
C |
2: 29,960,212 (GRCm39) |
S182P |
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,620,618 (GRCm39) |
T321A |
possibly damaging |
Het |
| Sfpq |
A |
T |
4: 126,915,295 (GRCm39) |
H29L |
unknown |
Het |
| Sptbn1 |
C |
G |
11: 30,109,293 (GRCm39) |
|
probably null |
Het |
| Srrd |
C |
T |
5: 112,486,316 (GRCm39) |
G179D |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,940,456 (GRCm39) |
S312P |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,093,794 (GRCm39) |
L566* |
probably null |
Het |
| Tln2 |
T |
A |
9: 67,304,935 (GRCm39) |
M1L |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,163,497 (GRCm39) |
F702L |
probably benign |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,637 (GRCm39) |
G419R |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,884,887 (GRCm39) |
S3187G |
probably damaging |
Het |
| Vps13d |
C |
A |
4: 144,907,685 (GRCm39) |
|
probably null |
Het |
| Vps35l |
T |
C |
7: 118,411,097 (GRCm39) |
F677L |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,688,507 (GRCm39) |
E23V |
probably null |
Het |
|
| Other mutations in Slc33a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Slc33a1
|
APN |
3 |
63,871,433 (GRCm39) |
missense |
probably benign |
|
|
IGL01361:Slc33a1
|
APN |
3 |
63,850,833 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01564:Slc33a1
|
APN |
3 |
63,850,768 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02027:Slc33a1
|
APN |
3 |
63,855,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02598:Slc33a1
|
APN |
3 |
63,850,753 (GRCm39) |
missense |
probably benign |
|
|
IGL02877:Slc33a1
|
APN |
3 |
63,850,806 (GRCm39) |
missense |
probably benign |
|
|
IGL03196:Slc33a1
|
APN |
3 |
63,871,151 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03269:Slc33a1
|
APN |
3 |
63,871,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
skeletor
|
UTSW |
3 |
63,852,122 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0973:Slc33a1
|
UTSW |
3 |
63,850,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0973:Slc33a1
|
UTSW |
3 |
63,850,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0974:Slc33a1
|
UTSW |
3 |
63,850,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1171:Slc33a1
|
UTSW |
3 |
63,861,315 (GRCm39) |
missense |
probably benign |
|
|
R1513:Slc33a1
|
UTSW |
3 |
63,871,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1618:Slc33a1
|
UTSW |
3 |
63,855,650 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2095:Slc33a1
|
UTSW |
3 |
63,871,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3927:Slc33a1
|
UTSW |
3 |
63,871,145 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5204:Slc33a1
|
UTSW |
3 |
63,871,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6371:Slc33a1
|
UTSW |
3 |
63,850,709 (GRCm39) |
missense |
probably benign |
|
|
R6425:Slc33a1
|
UTSW |
3 |
63,871,484 (GRCm39) |
missense |
probably benign |
|
|
R6641:Slc33a1
|
UTSW |
3 |
63,861,327 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6709:Slc33a1
|
UTSW |
3 |
63,852,122 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6866:Slc33a1
|
UTSW |
3 |
63,850,744 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7360:Slc33a1
|
UTSW |
3 |
63,855,075 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7768:Slc33a1
|
UTSW |
3 |
63,855,039 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8560:Slc33a1
|
UTSW |
3 |
63,850,773 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9195:Slc33a1
|
UTSW |
3 |
63,871,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Slc33a1
|
UTSW |
3 |
63,861,424 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGACGATGTTCATGCCTAC -3'
(R):5'- CATCTGTGCGCTTGTGACTG -3'
Sequencing Primer
(F):5'- GATGTTCATGCCTACCCAGTTTCG -3'
(R):5'- ATTGAAGGTCTGTAGGACTGCAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation