Incidental Mutation 'IGL01160:Spart'
| ID |
53474 |
| 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 # |
IGL01160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
55019529-55044743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55029177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 323
(F323I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044116]
[ENSMUST00000107971]
[ENSMUST00000117341]
[ENSMUST00000118118]
[ENSMUST00000146109]
[ENSMUST00000149767]
|
| AlphaFold |
Q8R1X6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044116
AA Change: F323I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: F323I
| 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 damaging
Transcript: ENSMUST00000107971
AA Change: F323I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
AA Change: F323I
| 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 damaging
Transcript: ENSMUST00000117341
AA Change: F323I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580
AA Change: F323I
| 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 damaging
Transcript: ENSMUST00000118118
AA Change: F323I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: F323I
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11a |
A |
G |
8: 12,894,609 (GRCm39) |
T188A |
probably damaging |
Het |
| Bfsp2 |
A |
G |
9: 103,357,367 (GRCm39) |
V20A |
probably benign |
Het |
| Btn1a1 |
G |
A |
13: 23,645,907 (GRCm39) |
T154M |
possibly damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,481,532 (GRCm39) |
S200G |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,213,468 (GRCm39) |
G1358S |
probably damaging |
Het |
| Crlf2 |
T |
C |
5: 109,705,436 (GRCm39) |
T40A |
possibly damaging |
Het |
| Cstf2 |
T |
A |
X: 132,961,478 (GRCm39) |
|
probably benign |
Het |
| Dcdc2a |
A |
G |
13: 25,303,312 (GRCm39) |
D281G |
probably benign |
Het |
| Dmd |
T |
C |
X: 82,968,567 (GRCm39) |
L1855P |
probably damaging |
Het |
| Dnajc5g |
T |
C |
5: 31,267,529 (GRCm39) |
V112A |
probably benign |
Het |
| Dnmt1 |
G |
A |
9: 20,828,615 (GRCm39) |
P828S |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,783,887 (GRCm39) |
S268R |
probably damaging |
Het |
| Dpep2 |
C |
T |
8: 106,713,076 (GRCm39) |
V440M |
possibly damaging |
Het |
| F8 |
A |
T |
X: 74,331,667 (GRCm39) |
M741K |
probably damaging |
Het |
| Fermt3 |
C |
T |
19: 6,980,626 (GRCm39) |
|
probably null |
Het |
| Fosb |
A |
G |
7: 19,041,039 (GRCm39) |
|
probably null |
Het |
| Gm3238 |
C |
A |
10: 77,606,717 (GRCm39) |
|
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,876,480 (GRCm39) |
S118T |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,923,662 (GRCm39) |
D1140G |
possibly damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,326,750 (GRCm39) |
|
probably benign |
Het |
| Irf3 |
C |
A |
7: 44,648,220 (GRCm39) |
D28E |
possibly damaging |
Het |
| Ly6i |
A |
T |
15: 74,851,881 (GRCm39) |
I96N |
possibly damaging |
Het |
| Macrod2 |
T |
C |
2: 140,666,962 (GRCm39) |
|
probably benign |
Het |
| Or2b4 |
A |
G |
17: 38,116,941 (GRCm39) |
R302G |
probably benign |
Het |
| Or4c117 |
A |
T |
2: 88,956,072 (GRCm39) |
M1K |
probably null |
Het |
| Or4f15 |
A |
G |
2: 111,814,278 (GRCm39) |
L47P |
probably damaging |
Het |
| Or52z1 |
C |
T |
7: 103,436,843 (GRCm39) |
G214R |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,538,879 (GRCm39) |
M1128K |
probably benign |
Het |
| Parp9 |
A |
T |
16: 35,768,368 (GRCm39) |
I183F |
probably damaging |
Het |
| Pbsn |
T |
C |
X: 76,886,177 (GRCm39) |
N147S |
probably benign |
Het |
| Pcf11 |
A |
G |
7: 92,310,894 (GRCm39) |
S365P |
possibly damaging |
Het |
| Pcnx4 |
T |
G |
12: 72,626,151 (GRCm39) |
V1119G |
probably damaging |
Het |
| Qng1 |
A |
G |
13: 58,529,790 (GRCm39) |
V274A |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,334,791 (GRCm39) |
T1308M |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,854,024 (GRCm39) |
L647P |
probably damaging |
Het |
| Slc28a2b |
A |
C |
2: 122,355,277 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
A |
G |
14: 54,972,581 (GRCm39) |
V280A |
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,420,589 (GRCm39) |
D70E |
probably benign |
Het |
| Tmc4 |
T |
C |
7: 3,678,517 (GRCm39) |
Y38C |
possibly damaging |
Het |
| Tmco5b |
G |
T |
2: 113,118,143 (GRCm39) |
|
probably benign |
Het |
| Trav10 |
G |
A |
14: 53,743,239 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,489,477 (GRCm39) |
M454K |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
| Yipf7 |
T |
C |
5: 69,676,660 (GRCm39) |
I160V |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,134,989 (GRCm39) |
|
probably benign |
Het |
| Zfp429 |
G |
A |
13: 67,539,132 (GRCm39) |
S91L |
probably damaging |
Het |
|
| Other mutations in Spart |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-06-28 |
Incidental Mutation