Incidental Mutation 'R6652:Spart'
| ID |
528081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spart
|
| Ensembl Gene |
ENSMUSG00000036580 |
| Gene Name |
spartin |
| Synonyms |
TAHCCP1, Spg20 |
| MMRRC Submission |
044773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
R6652 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
55019529-55044743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55032248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 361
(E361K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044116]
[ENSMUST00000107971]
[ENSMUST00000117341]
[ENSMUST00000118118]
|
| AlphaFold |
Q8R1X6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044116
AA Change: E361K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: E361K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
| 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: E361K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580
AA Change: E361K
| 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: E361K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: E361K
| 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 |
noncoding transcript
Transcript: ENSMUST00000199416
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| Abca14 |
A |
G |
7: 119,846,164 (GRCm39) |
D605G |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,071,806 (GRCm39) |
I294N |
probably benign |
Het |
| Clk3 |
A |
G |
9: 57,669,078 (GRCm39) |
S49P |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,229,403 (GRCm39) |
V1895A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,229,547 (GRCm39) |
D1847G |
probably damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,103,138 (GRCm39) |
D359G |
probably benign |
Het |
| Dag1 |
A |
T |
9: 108,086,289 (GRCm39) |
M284K |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,091,079 (GRCm39) |
Y211C |
probably damaging |
Het |
| Espnl |
A |
C |
1: 91,272,421 (GRCm39) |
I594L |
probably benign |
Het |
| Fam193b |
A |
G |
13: 55,690,603 (GRCm39) |
S226P |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,143,088 (GRCm39) |
I4254L |
probably benign |
Het |
| Fhdc1 |
T |
C |
3: 84,371,631 (GRCm39) |
Y108C |
probably damaging |
Het |
| Fut9 |
G |
C |
4: 25,620,619 (GRCm39) |
T65S |
probably benign |
Het |
| Gm9507 |
A |
T |
10: 77,647,493 (GRCm39) |
|
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Grap2 |
A |
T |
15: 80,532,723 (GRCm39) |
N297Y |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,891,609 (GRCm39) |
F2302S |
probably damaging |
Het |
| Ighv1-81 |
T |
A |
12: 115,884,051 (GRCm39) |
I67F |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,060,059 (GRCm39) |
|
probably null |
Het |
| Kti12 |
T |
A |
4: 108,705,730 (GRCm39) |
S215T |
probably benign |
Het |
| Mc1r |
G |
A |
8: 124,134,370 (GRCm39) |
G41D |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,878,105 (GRCm39) |
Y129C |
probably damaging |
Het |
| Mthfsd |
A |
T |
8: 121,825,560 (GRCm39) |
L337Q |
probably damaging |
Het |
| Musk |
C |
T |
4: 58,368,977 (GRCm39) |
A629V |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,364,955 (GRCm39) |
M250K |
probably benign |
Het |
| Ncapd2 |
G |
A |
6: 125,163,233 (GRCm39) |
H92Y |
probably benign |
Het |
| Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
| Or6y1 |
G |
A |
1: 174,276,627 (GRCm39) |
C146Y |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,063,974 (GRCm39) |
V2100E |
probably damaging |
Het |
| Prss37 |
C |
A |
6: 40,496,090 (GRCm39) |
|
probably benign |
Het |
| Sebox |
A |
T |
11: 78,394,631 (GRCm39) |
E32V |
probably damaging |
Het |
| Senp7 |
C |
A |
16: 55,944,257 (GRCm39) |
Q194K |
probably benign |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Stn1 |
T |
C |
19: 47,496,017 (GRCm39) |
T334A |
probably benign |
Het |
| Stoml1 |
A |
G |
9: 58,164,017 (GRCm39) |
D112G |
probably damaging |
Het |
| Thap2 |
T |
A |
10: 115,212,441 (GRCm39) |
D28V |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,196,743 (GRCm39) |
N872K |
possibly damaging |
Het |
| Vezt |
A |
G |
10: 93,806,141 (GRCm39) |
F757L |
probably damaging |
Het |
| Vmn1r204 |
T |
C |
13: 22,740,573 (GRCm39) |
I68T |
probably damaging |
Het |
| Wnt10a |
A |
G |
1: 74,842,613 (GRCm39) |
|
probably null |
Het |
| Yipf7 |
A |
G |
5: 69,698,504 (GRCm39) |
M1T |
probably null |
Het |
| Zdhhc19 |
T |
C |
16: 32,316,047 (GRCm39) |
F48S |
probably damaging |
Het |
| Zfp317 |
C |
T |
9: 19,558,335 (GRCm39) |
T183I |
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 |
|
|
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 |
|
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'- CTGTGCAGTCAGACACACTG -3'
(R):5'- AAGCAGTTTGAGCACAAATGTG -3'
Sequencing Primer
(F):5'- CACTGGCATCTGAACATGTG -3'
(R):5'- ACAAATGTGTGGTGACCCTAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation