Incidental Mutation 'IGL02345:Spart'
ID |
289244 |
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: 0.244)
|
Stock # |
IGL02345
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
55019529-55044743 bp(+) (GRCm39) |
Type of Mutation |
splice site (465 bp from exon) |
DNA Base Change (assembly) |
T to A
at 55025147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044116]
[ENSMUST00000107971]
[ENSMUST00000117341]
[ENSMUST00000118118]
[ENSMUST00000146109]
[ENSMUST00000149767]
|
AlphaFold |
Q8R1X6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000044116
AA Change: Y247*
|
SMART Domains |
Protein: ENSMUSP00000042367 Gene: ENSMUSG00000036580 AA Change: Y247*
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 null
Transcript: ENSMUST00000107971
AA Change: Y247*
|
SMART Domains |
Protein: ENSMUSP00000103605 Gene: ENSMUSG00000036580 AA Change: Y247*
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 null
Transcript: ENSMUST00000117341
AA Change: Y247*
|
SMART Domains |
Protein: ENSMUSP00000113968 Gene: ENSMUSG00000036580 AA Change: Y247*
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 null
Transcript: ENSMUST00000118118
AA Change: Y247*
|
SMART Domains |
Protein: ENSMUSP00000113621 Gene: ENSMUSG00000036580 AA Change: Y247*
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 null
Transcript: ENSMUST00000146109
|
SMART Domains |
Protein: ENSMUSP00000121683 Gene: ENSMUSG00000036580
Domain | Start | End | E-Value | Type |
MIT
|
16 |
94 |
4.64e-18 |
SMART |
|
Predicted Effect |
probably null
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200658
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
G |
T |
16: 14,214,215 (GRCm39) |
D177Y |
possibly damaging |
Het |
Casc3 |
T |
C |
11: 98,718,390 (GRCm39) |
|
probably benign |
Het |
Catspere2 |
G |
A |
1: 177,842,754 (GRCm39) |
V60I |
possibly damaging |
Het |
Cnga1 |
C |
T |
5: 72,762,615 (GRCm39) |
V300I |
probably benign |
Het |
Dcun1d4 |
A |
G |
5: 73,668,495 (GRCm39) |
D41G |
probably damaging |
Het |
Dnm1l |
T |
C |
16: 16,147,758 (GRCm39) |
S181G |
possibly damaging |
Het |
Dyrk1a |
T |
G |
16: 94,472,221 (GRCm39) |
S242A |
possibly damaging |
Het |
Fcgbp |
T |
A |
7: 27,771,068 (GRCm39) |
|
probably benign |
Het |
Fibcd1 |
T |
C |
2: 31,706,604 (GRCm39) |
Y409C |
probably damaging |
Het |
Fig4 |
A |
T |
10: 41,143,770 (GRCm39) |
W230R |
probably null |
Het |
Flt1 |
T |
C |
5: 147,519,436 (GRCm39) |
S960G |
probably benign |
Het |
Fyb1 |
A |
G |
15: 6,649,143 (GRCm39) |
S390G |
possibly damaging |
Het |
Gbx2 |
T |
C |
1: 89,856,698 (GRCm39) |
T231A |
probably benign |
Het |
Gm5852 |
T |
A |
3: 93,635,055 (GRCm39) |
|
noncoding transcript |
Het |
Lmo7 |
T |
C |
14: 102,124,909 (GRCm39) |
V456A |
probably damaging |
Het |
Mark3 |
A |
G |
12: 111,593,541 (GRCm39) |
N191S |
probably damaging |
Het |
Or7h8 |
C |
A |
9: 20,124,314 (GRCm39) |
S223Y |
possibly damaging |
Het |
Pik3c2a |
C |
T |
7: 116,005,126 (GRCm39) |
E381K |
probably damaging |
Het |
Pik3r5 |
A |
G |
11: 68,383,552 (GRCm39) |
D457G |
probably benign |
Het |
Plcg2 |
T |
C |
8: 118,311,919 (GRCm39) |
S404P |
probably damaging |
Het |
Prr16 |
T |
C |
18: 51,436,301 (GRCm39) |
F260S |
probably damaging |
Het |
Psd4 |
T |
C |
2: 24,291,835 (GRCm39) |
|
probably null |
Het |
Ptgs1 |
A |
G |
2: 36,132,983 (GRCm39) |
D327G |
probably null |
Het |
Rgsl1 |
C |
T |
1: 153,679,755 (GRCm39) |
|
probably null |
Het |
Sugp1 |
A |
G |
8: 70,495,734 (GRCm39) |
|
probably benign |
Het |
Tubgcp3 |
A |
T |
8: 12,675,056 (GRCm39) |
I713N |
probably damaging |
Het |
Usp19 |
A |
G |
9: 108,371,057 (GRCm39) |
T240A |
probably benign |
Het |
Vash2 |
A |
G |
1: 190,710,412 (GRCm39) |
V81A |
probably benign |
Het |
Vmn2r41 |
T |
G |
7: 8,141,767 (GRCm39) |
N566H |
probably damaging |
Het |
Wdr31 |
A |
G |
4: 62,377,083 (GRCm39) |
I42T |
possibly damaging |
Het |
Zfp292 |
C |
T |
4: 34,809,244 (GRCm39) |
V1272I |
possibly damaging |
Het |
Zfp638 |
C |
T |
6: 83,961,857 (GRCm39) |
R1899C |
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 |
|
IGL03217:Spart
|
APN |
3 |
55,035,912 (GRCm39) |
splice site |
probably benign |
|
IGL03344:Spart
|
APN |
3 |
55,029,106 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
2015-04-16 |