Incidental Mutation 'IGL01539:Spart'
| ID |
90095 |
| 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 # |
IGL01539
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
55019529-55044743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55024723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 106
(D106G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044116]
[ENSMUST00000107971]
[ENSMUST00000117341]
[ENSMUST00000118118]
[ENSMUST00000146109]
[ENSMUST00000149767]
|
| AlphaFold |
Q8R1X6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044116
AA Change: D106G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: D106G
| 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 |
possibly damaging
Transcript: ENSMUST00000107971
AA Change: D106G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
AA Change: D106G
| 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 |
possibly damaging
Transcript: ENSMUST00000117341
AA Change: D106G
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580
AA Change: D106G
| 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 |
possibly damaging
Transcript: ENSMUST00000118118
AA Change: D106G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: D106G
| 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
AA Change: D106G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000121683
Gene: ENSMUSG00000036580
AA Change: D106G
| 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
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clca4b |
T |
A |
3: 144,631,918 (GRCm39) |
M196L |
probably benign |
Het |
| Cyp4a14 |
T |
C |
4: 115,344,374 (GRCm39) |
N497S |
possibly damaging |
Het |
| Eif3b |
T |
C |
5: 140,416,008 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,140,932 (GRCm39) |
Q1062R |
probably benign |
Het |
| Ina |
A |
G |
19: 47,003,903 (GRCm39) |
E237G |
probably damaging |
Het |
| Lmx1b |
T |
C |
2: 33,529,510 (GRCm39) |
D83G |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,289,701 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,236,306 (GRCm39) |
M406L |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,754,299 (GRCm39) |
I933T |
probably benign |
Het |
| Or4c121 |
A |
G |
2: 89,023,836 (GRCm39) |
F181L |
possibly damaging |
Het |
| Or6c204 |
T |
C |
10: 129,022,804 (GRCm39) |
N162S |
probably benign |
Het |
| Pde1b |
A |
T |
15: 103,433,772 (GRCm39) |
|
probably benign |
Het |
| Rab29 |
G |
A |
1: 131,798,445 (GRCm39) |
R75Q |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,467,764 (GRCm39) |
I792N |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,114,117 (GRCm39) |
V70D |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,673,333 (GRCm39) |
S402P |
possibly damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,561 (GRCm39) |
E359G |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 178,016,488 (GRCm39) |
Y658C |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,997,654 (GRCm39) |
T811S |
possibly damaging |
Het |
| Trim66 |
C |
A |
7: 109,054,273 (GRCm39) |
M1312I |
probably benign |
Het |
| Tspan18 |
A |
G |
2: 93,041,198 (GRCm39) |
S135P |
probably damaging |
Het |
| Ube2j1 |
T |
C |
4: 33,043,993 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
C |
2: 120,756,494 (GRCm39) |
V711G |
possibly damaging |
Het |
| Veph1 |
T |
C |
3: 66,065,496 (GRCm39) |
T524A |
probably benign |
Het |
| Vmn1r222 |
A |
T |
13: 23,417,059 (GRCm39) |
F51L |
probably benign |
Het |
| Vwf |
G |
T |
6: 125,567,225 (GRCm39) |
V338L |
possibly damaging |
Het |
| Zfp770 |
G |
T |
2: 114,027,574 (GRCm39) |
A165E |
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 |
|
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 |
|
|
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 |
2013-12-03 |
Incidental Mutation