Incidental Mutation 'R6791:Spart'
| ID |
532569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spart
|
| Ensembl Gene |
ENSMUSG00000036580 |
| Gene Name |
spartin |
| Synonyms |
TAHCCP1, Spg20 |
| MMRRC Submission |
044904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.244)
|
| Stock # |
R6791 (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 55034982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 456
(G456D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044116]
[ENSMUST00000107971]
[ENSMUST00000117341]
[ENSMUST00000118118]
|
| AlphaFold |
Q8R1X6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044116
AA Change: G456D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: G456D
| 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: G399D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
AA Change: G399D
| 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: G456D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580
AA Change: G456D
| 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: G456D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: G456D
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,328,504 (GRCm39) |
C3526S |
probably damaging |
Het |
| Adgrf2 |
T |
C |
17: 43,021,774 (GRCm39) |
N350S |
probably benign |
Het |
| Atp12a |
G |
A |
14: 56,624,439 (GRCm39) |
|
probably null |
Het |
| AW551984 |
T |
G |
9: 39,511,955 (GRCm39) |
S19R |
probably damaging |
Het |
| Bet1l |
A |
G |
7: 140,434,418 (GRCm39) |
I77T |
possibly damaging |
Het |
| Cfap206 |
T |
C |
4: 34,711,414 (GRCm39) |
I494M |
possibly damaging |
Het |
| Cog3 |
A |
G |
14: 75,968,118 (GRCm39) |
I415T |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,300,518 (GRCm39) |
P1060S |
probably damaging |
Het |
| Ctrb1 |
A |
G |
8: 112,415,981 (GRCm39) |
V71A |
possibly damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,242,242 (GRCm39) |
Y211C |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 98,000,336 (GRCm39) |
T128A |
probably benign |
Het |
| Fdps |
A |
G |
3: 89,002,659 (GRCm39) |
|
probably null |
Het |
| Gm4302 |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
10: 100,177,361 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
T |
A |
19: 11,489,200 (GRCm39) |
|
probably benign |
Het |
| Grm6 |
T |
C |
11: 50,750,601 (GRCm39) |
V588A |
possibly damaging |
Het |
| Heatr6 |
T |
C |
11: 83,649,167 (GRCm39) |
L174S |
probably benign |
Het |
| Kif1a |
G |
A |
1: 92,993,859 (GRCm39) |
P364S |
probably damaging |
Het |
| Klk7 |
A |
G |
7: 43,462,684 (GRCm39) |
D163G |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Lamb3 |
T |
C |
1: 193,017,169 (GRCm39) |
S787P |
possibly damaging |
Het |
| Lrp5 |
C |
T |
19: 3,650,753 (GRCm39) |
C1227Y |
probably damaging |
Het |
| Mgst1 |
G |
A |
6: 138,118,805 (GRCm39) |
|
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,571,428 (GRCm39) |
S1022P |
probably damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,716,678 (GRCm39) |
I521T |
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,296,426 (GRCm39) |
T75A |
possibly damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,372,845 (GRCm39) |
I83N |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Neurl4 |
T |
A |
11: 69,799,336 (GRCm39) |
L904Q |
probably damaging |
Het |
| Ngp |
A |
C |
9: 110,249,017 (GRCm39) |
I30L |
probably benign |
Het |
| Or5af1 |
T |
C |
11: 58,722,903 (GRCm39) |
Y308H |
probably benign |
Het |
| Or6c5c |
G |
A |
10: 129,299,023 (GRCm39) |
M159I |
probably benign |
Het |
| Orm2 |
A |
T |
4: 63,282,196 (GRCm39) |
M125L |
probably benign |
Het |
| Pax2 |
A |
T |
19: 44,777,260 (GRCm39) |
D151V |
possibly damaging |
Het |
| Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
| Ppargc1b |
C |
A |
18: 61,440,747 (GRCm39) |
G724W |
probably damaging |
Het |
| Pramel11 |
T |
A |
4: 143,622,252 (GRCm39) |
I368F |
probably benign |
Het |
| Prss16 |
A |
T |
13: 22,190,237 (GRCm39) |
V307E |
probably damaging |
Het |
| Prss54 |
T |
G |
8: 96,291,283 (GRCm39) |
|
probably null |
Het |
| Rspo1 |
A |
G |
4: 124,900,976 (GRCm39) |
H108R |
probably benign |
Het |
| Sh3bp5l |
C |
A |
11: 58,237,098 (GRCm39) |
H352N |
probably damaging |
Het |
| Skor1 |
T |
C |
9: 63,047,636 (GRCm39) |
|
probably null |
Het |
| Smad6 |
A |
G |
9: 63,919,509 (GRCm39) |
Y289H |
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,923,924 (GRCm39) |
E799G |
probably damaging |
Het |
| Tbc1d4 |
T |
G |
14: 101,845,695 (GRCm39) |
K68Q |
probably damaging |
Het |
| Treml2 |
A |
G |
17: 48,616,247 (GRCm39) |
M296V |
probably benign |
Het |
| Ugt2b1 |
C |
A |
5: 87,067,116 (GRCm39) |
D436Y |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,325,042 (GRCm39) |
|
probably null |
Homo |
| Vmn2r6 |
T |
C |
3: 64,445,580 (GRCm39) |
Y626C |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,228,129 (GRCm39) |
V506A |
probably damaging |
Het |
| Zfp74 |
A |
G |
7: 29,633,860 (GRCm39) |
I616T |
probably benign |
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 |
|
R6652:Spart
|
UTSW |
3 |
55,032,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- ATGGCCCATTTAGGATCTACTAC -3'
(R):5'- ACTCCTCCTCTGTGAGACTGAG -3'
Sequencing Primer
(F):5'- GGCCCATTTAGGATCTACTACTGAAC -3'
(R):5'- GCAGACATTTAGCCTGGATTAGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation