Incidental Mutation 'R2183:Spart'
ID |
237278 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spart
|
Ensembl Gene |
ENSMUSG00000036580 |
Gene Name |
spartin |
Synonyms |
TAHCCP1, Spg20 |
MMRRC Submission |
040185-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.242)
|
Stock # |
R2183 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
55019529-55044743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55024554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 50
(I50V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119719
(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: I50V
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000042367 Gene: ENSMUSG00000036580 AA Change: I50V
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: I50V
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000103605 Gene: ENSMUSG00000036580 AA Change: I50V
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: I50V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113968 Gene: ENSMUSG00000036580 AA Change: I50V
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: I50V
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000113621 Gene: ENSMUSG00000036580 AA Change: I50V
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: I50V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000121683 Gene: ENSMUSG00000036580 AA Change: I50V
Domain | Start | End | E-Value | Type |
MIT
|
16 |
94 |
4.64e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149767
AA Change: I50V
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000119719 Gene: ENSMUSG00000036580 AA Change: I50V
Domain | Start | End | E-Value | Type |
MIT
|
16 |
92 |
6.83e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199416
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atf7 |
T |
C |
15: 102,454,908 (GRCm39) |
T287A |
possibly damaging |
Het |
Atg9b |
C |
T |
5: 24,595,491 (GRCm39) |
A263T |
probably benign |
Het |
Cc2d1a |
A |
T |
8: 84,867,028 (GRCm39) |
H371Q |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,875,581 (GRCm39) |
N537S |
possibly damaging |
Het |
Cdc6 |
A |
T |
11: 98,799,524 (GRCm39) |
K17* |
probably null |
Het |
Cemip2 |
G |
A |
19: 21,801,157 (GRCm39) |
R758Q |
possibly damaging |
Het |
Cenpk |
T |
C |
13: 104,370,671 (GRCm39) |
M64T |
probably damaging |
Het |
Dhx57 |
T |
A |
17: 80,582,760 (GRCm39) |
T282S |
probably benign |
Het |
Frem1 |
G |
A |
4: 82,909,732 (GRCm39) |
T757I |
probably benign |
Het |
Gcsh |
A |
T |
8: 117,715,885 (GRCm39) |
V66E |
probably damaging |
Het |
Gdpd1 |
T |
C |
11: 86,926,102 (GRCm39) |
N281S |
probably damaging |
Het |
Hs1bp3 |
T |
C |
12: 8,371,610 (GRCm39) |
V97A |
possibly damaging |
Het |
Ipo11 |
T |
C |
13: 107,061,595 (GRCm39) |
T22A |
probably benign |
Het |
Irag1 |
A |
T |
7: 110,498,189 (GRCm39) |
L402Q |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,098,004 (GRCm39) |
N1795D |
probably damaging |
Het |
Larp4 |
T |
C |
15: 99,909,778 (GRCm39) |
V627A |
probably benign |
Het |
Lrp8 |
T |
C |
4: 107,660,462 (GRCm39) |
C41R |
probably damaging |
Het |
Mroh2b |
T |
A |
15: 4,947,707 (GRCm39) |
|
probably null |
Het |
Nebl |
T |
C |
2: 17,409,027 (GRCm39) |
D357G |
probably damaging |
Het |
Nrg2 |
T |
C |
18: 36,329,804 (GRCm39) |
K137R |
probably benign |
Het |
Or14c43 |
T |
A |
7: 86,115,594 (GRCm39) |
V325E |
probably benign |
Het |
Or1j14 |
C |
T |
2: 36,417,723 (GRCm39) |
Q100* |
probably null |
Het |
Or5t7 |
A |
T |
2: 86,507,380 (GRCm39) |
M99K |
probably benign |
Het |
Phc1 |
C |
A |
6: 122,300,284 (GRCm39) |
V487L |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,239,345 (GRCm39) |
V745A |
probably damaging |
Het |
Proca1 |
A |
T |
11: 78,094,975 (GRCm39) |
H83L |
possibly damaging |
Het |
Prpf4 |
G |
A |
4: 62,330,046 (GRCm39) |
V107I |
probably damaging |
Het |
Ptprz1 |
G |
A |
6: 23,002,284 (GRCm39) |
R1458Q |
probably benign |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rbsn |
C |
A |
6: 92,166,618 (GRCm39) |
L675F |
probably benign |
Het |
Recql5 |
T |
C |
11: 115,787,613 (GRCm39) |
S514G |
probably benign |
Het |
Scai |
G |
A |
2: 38,970,138 (GRCm39) |
T542I |
probably benign |
Het |
Sftpa1 |
G |
T |
14: 40,854,823 (GRCm39) |
D73Y |
probably damaging |
Het |
Sgms2 |
A |
C |
3: 131,129,934 (GRCm39) |
|
probably null |
Het |
Spata7 |
A |
T |
12: 98,603,871 (GRCm39) |
K47N |
probably damaging |
Het |
Tbx18 |
T |
A |
9: 87,587,789 (GRCm39) |
T443S |
probably damaging |
Het |
Tmem130 |
T |
C |
5: 144,692,242 (GRCm39) |
D54G |
possibly damaging |
Het |
Tnip2 |
TCTCCT |
TCT |
5: 34,656,957 (GRCm39) |
|
probably benign |
Het |
Trp53rkb |
G |
T |
2: 166,635,877 (GRCm39) |
V73L |
possibly damaging |
Het |
Wwc2 |
A |
T |
8: 48,295,961 (GRCm39) |
L1103H |
unknown |
Het |
Yes1 |
T |
A |
5: 32,802,370 (GRCm39) |
V95E |
probably damaging |
Het |
Zfp971 |
T |
A |
2: 177,675,533 (GRCm39) |
H377Q |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,777,544 (GRCm39) |
R1792* |
probably null |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGCGAGCTAACTGGTTAATG -3'
(R):5'- GAACTCTGGGTATAGCTTGGGC -3'
Sequencing Primer
(F):5'- AGCTAACTGGTTAATGGCAGGTG -3'
(R):5'- ACATCCTGAAGGTCATTCCGTAGAG -3'
|
Posted On |
2014-10-02 |