Incidental Mutation 'IGL03344:Spart'
ID |
417381 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spart
|
Ensembl Gene |
ENSMUSG00000036580 |
Gene Name |
spartin |
Synonyms |
TAHCCP1, Spg20 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.242)
|
Stock # |
IGL03344
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
55019529-55044743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55029106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 299
(M299T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113968
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044116]
[ENSMUST00000107971]
[ENSMUST00000117341]
[ENSMUST00000118118]
[ENSMUST00000146109]
[ENSMUST00000149767]
|
AlphaFold |
Q8R1X6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044116
AA Change: M299T
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000042367 Gene: ENSMUSG00000036580 AA Change: M299T
Domain | Start | End | E-Value | Type |
MIT
|
16 |
94 |
4.64e-18 |
SMART |
SCOP:d1bw0a_
|
158 |
254 |
8e-4 |
SMART |
low complexity region
|
369 |
381 |
N/A |
INTRINSIC |
low complexity region
|
408 |
426 |
N/A |
INTRINSIC |
Pfam:Senescence
|
431 |
616 |
9.7e-52 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107971
AA Change: M299T
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000103605 Gene: ENSMUSG00000036580 AA Change: M299T
Domain | Start | End | E-Value | Type |
MIT
|
16 |
94 |
4.64e-18 |
SMART |
SCOP:d1bw0a_
|
158 |
254 |
9e-4 |
SMART |
low complexity region
|
351 |
369 |
N/A |
INTRINSIC |
Pfam:Senescence
|
373 |
560 |
3.2e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117341
AA Change: M299T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000113968 Gene: ENSMUSG00000036580 AA Change: M299T
Domain | Start | End | E-Value | Type |
MIT
|
16 |
94 |
4.64e-18 |
SMART |
SCOP:d1bw0a_
|
158 |
254 |
8e-4 |
SMART |
low complexity region
|
369 |
381 |
N/A |
INTRINSIC |
low complexity region
|
408 |
426 |
N/A |
INTRINSIC |
Pfam:Senescence
|
430 |
582 |
9.3e-42 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118118
AA Change: M299T
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000113621 Gene: ENSMUSG00000036580 AA Change: M299T
Domain | Start | End | E-Value | Type |
MIT
|
16 |
94 |
4.64e-18 |
SMART |
SCOP:d1bw0a_
|
158 |
254 |
8e-4 |
SMART |
low complexity region
|
369 |
381 |
N/A |
INTRINSIC |
low complexity region
|
408 |
426 |
N/A |
INTRINSIC |
Pfam:Senescence
|
430 |
617 |
3.8e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146109
|
SMART Domains |
Protein: ENSMUSP00000121683 Gene: ENSMUSG00000036580
Domain | Start | End | E-Value | Type |
MIT
|
16 |
94 |
4.64e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149767
|
SMART Domains |
Protein: ENSMUSP00000119719 Gene: ENSMUSG00000036580
Domain | Start | End | E-Value | Type |
MIT
|
16 |
92 |
6.83e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199416
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired lipid droplet amintenance, cytokinesis and impaired motor coordination. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
A |
T |
8: 79,975,005 (GRCm39) |
I26N |
probably damaging |
Het |
Atxn7l1 |
A |
G |
12: 33,376,065 (GRCm39) |
N47D |
probably damaging |
Het |
Cer1 |
A |
T |
4: 82,803,062 (GRCm39) |
W87R |
probably damaging |
Het |
Chrna2 |
A |
G |
14: 66,388,415 (GRCm39) |
K477E |
probably damaging |
Het |
Chtf8 |
G |
A |
8: 107,612,904 (GRCm39) |
P12S |
probably damaging |
Het |
Cplane1 |
C |
A |
15: 8,216,942 (GRCm39) |
P720Q |
possibly damaging |
Het |
Deaf1 |
A |
T |
7: 140,877,461 (GRCm39) |
H555Q |
probably benign |
Het |
Dop1a |
T |
G |
9: 86,418,197 (GRCm39) |
I1975M |
probably damaging |
Het |
Ecpas |
A |
C |
4: 58,828,538 (GRCm39) |
V965G |
probably damaging |
Het |
Fsd2 |
C |
A |
7: 81,209,657 (GRCm39) |
V62L |
probably benign |
Het |
Fxyd6 |
T |
G |
9: 45,303,548 (GRCm39) |
L81R |
probably benign |
Het |
Htt |
T |
A |
5: 35,064,810 (GRCm39) |
S3008T |
probably benign |
Het |
Htt |
T |
A |
5: 35,037,172 (GRCm39) |
S2086T |
probably benign |
Het |
Mybbp1a |
G |
T |
11: 72,336,028 (GRCm39) |
R447L |
probably damaging |
Het |
Nup210 |
A |
G |
6: 90,998,411 (GRCm39) |
V792A |
possibly damaging |
Het |
Odad2 |
C |
A |
18: 7,129,434 (GRCm39) |
G915* |
probably null |
Het |
Odr4 |
T |
C |
1: 150,239,295 (GRCm39) |
E386G |
probably damaging |
Het |
Or1e32 |
T |
A |
11: 73,705,003 (GRCm39) |
I302L |
probably benign |
Het |
Or1j14 |
T |
C |
2: 36,418,140 (GRCm39) |
S239P |
probably damaging |
Het |
Prokr1 |
T |
C |
6: 87,565,482 (GRCm39) |
D121G |
possibly damaging |
Het |
Puf60 |
A |
G |
15: 75,942,229 (GRCm39) |
V548A |
possibly damaging |
Het |
Serpina3c |
T |
C |
12: 104,113,523 (GRCm39) |
I408V |
probably benign |
Het |
Ska2 |
A |
G |
11: 87,000,139 (GRCm39) |
|
probably benign |
Het |
Slc4a9 |
T |
A |
18: 36,668,654 (GRCm39) |
Y745N |
probably damaging |
Het |
Speer4f1 |
A |
G |
5: 17,685,332 (GRCm39) |
E209G |
possibly damaging |
Het |
Tmem202 |
T |
C |
9: 59,426,351 (GRCm39) |
T272A |
possibly damaging |
Het |
Vegfc |
T |
A |
8: 54,610,186 (GRCm39) |
I114N |
possibly damaging |
Het |
Vmn1r61 |
T |
A |
7: 5,613,493 (GRCm39) |
T274S |
possibly damaging |
Het |
Zfpm2 |
A |
G |
15: 40,966,170 (GRCm39) |
N753S |
probably benign |
Het |
Zmym6 |
A |
G |
4: 127,014,314 (GRCm39) |
T624A |
probably damaging |
Het |
|
Other mutations in Spart |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01160:Spart
|
APN |
3 |
55,029,177 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01539:Spart
|
APN |
3 |
55,024,723 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01982:Spart
|
APN |
3 |
55,035,911 (GRCm39) |
splice site |
probably null |
|
IGL02345:Spart
|
APN |
3 |
55,025,147 (GRCm39) |
splice site |
probably null |
|
IGL03217:Spart
|
APN |
3 |
55,035,912 (GRCm39) |
splice site |
probably benign |
|
BB007:Spart
|
UTSW |
3 |
55,035,697 (GRCm39) |
missense |
probably damaging |
1.00 |
BB017:Spart
|
UTSW |
3 |
55,035,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R0145:Spart
|
UTSW |
3 |
55,035,092 (GRCm39) |
nonsense |
probably null |
|
R0522:Spart
|
UTSW |
3 |
55,035,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1506:Spart
|
UTSW |
3 |
55,024,992 (GRCm39) |
missense |
probably damaging |
0.99 |
R2043:Spart
|
UTSW |
3 |
55,034,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R2183:Spart
|
UTSW |
3 |
55,024,554 (GRCm39) |
missense |
probably benign |
0.43 |
R4022:Spart
|
UTSW |
3 |
55,025,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R5154:Spart
|
UTSW |
3 |
55,024,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R5869:Spart
|
UTSW |
3 |
55,042,931 (GRCm39) |
missense |
probably benign |
0.00 |
R5987:Spart
|
UTSW |
3 |
55,033,962 (GRCm39) |
missense |
probably benign |
0.00 |
R6142:Spart
|
UTSW |
3 |
55,024,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R6185:Spart
|
UTSW |
3 |
55,024,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R6652:Spart
|
UTSW |
3 |
55,032,248 (GRCm39) |
missense |
probably benign |
0.00 |
R6791:Spart
|
UTSW |
3 |
55,034,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R7131:Spart
|
UTSW |
3 |
55,029,220 (GRCm39) |
critical splice donor site |
probably null |
|
R7930:Spart
|
UTSW |
3 |
55,035,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R8005:Spart
|
UTSW |
3 |
55,024,773 (GRCm39) |
missense |
probably benign |
0.00 |
R8458:Spart
|
UTSW |
3 |
55,032,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R8734:Spart
|
UTSW |
3 |
55,032,300 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8791:Spart
|
UTSW |
3 |
55,029,100 (GRCm39) |
missense |
probably benign |
0.19 |
R8929:Spart
|
UTSW |
3 |
55,035,979 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9060:Spart
|
UTSW |
3 |
55,032,275 (GRCm39) |
missense |
probably benign |
0.02 |
R9172:Spart
|
UTSW |
3 |
55,032,267 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9539:Spart
|
UTSW |
3 |
55,034,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R9695:Spart
|
UTSW |
3 |
55,033,955 (GRCm39) |
missense |
probably benign |
|
RF009:Spart
|
UTSW |
3 |
55,035,027 (GRCm39) |
missense |
probably benign |
0.00 |
X0018:Spart
|
UTSW |
3 |
55,042,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |