Incidental Mutation 'R5702:Spire2'
ID |
451744 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spire2
|
Ensembl Gene |
ENSMUSG00000010154 |
Gene Name |
spire type actin nucleation factor 2 |
Synonyms |
Spir-2 |
MMRRC Submission |
043182-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R5702 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
124059452-124096254 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 124073402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 94
(P94S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010298
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010298]
[ENSMUST00000127664]
[ENSMUST00000212404]
|
AlphaFold |
Q8K1S6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010298
AA Change: P94S
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000010298 Gene: ENSMUSG00000010154 AA Change: P94S
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
KIND
|
26 |
207 |
2.63e-82 |
SMART |
PDB:4EFH|B
|
310 |
360 |
8e-8 |
PDB |
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
low complexity region
|
496 |
513 |
N/A |
INTRINSIC |
SCOP:d1zbdb_
|
540 |
636 |
7e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212404
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,787,752 (GRCm39) |
S1018N |
probably benign |
Het |
Adat1 |
G |
T |
8: 112,704,704 (GRCm39) |
T414K |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,979,204 (GRCm39) |
V163L |
probably damaging |
Het |
Atf6b |
T |
C |
17: 34,869,978 (GRCm39) |
I288T |
possibly damaging |
Het |
Blm |
A |
T |
7: 80,108,675 (GRCm39) |
V1323E |
probably benign |
Het |
Brap |
T |
A |
5: 121,803,206 (GRCm39) |
L118Q |
probably damaging |
Het |
C1qbp |
G |
A |
11: 70,869,570 (GRCm39) |
T171I |
probably benign |
Het |
Ccdc136 |
C |
A |
6: 29,412,981 (GRCm39) |
H455Q |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,252,261 (GRCm39) |
V47D |
possibly damaging |
Het |
Cnot10 |
A |
C |
9: 114,458,078 (GRCm39) |
F143V |
probably damaging |
Het |
Cnot8 |
T |
C |
11: 58,004,873 (GRCm39) |
S191P |
possibly damaging |
Het |
Coro2b |
G |
A |
9: 62,333,859 (GRCm39) |
T345I |
probably damaging |
Het |
Dennd1b |
T |
C |
1: 139,061,413 (GRCm39) |
I365T |
probably damaging |
Het |
Dnah11 |
C |
A |
12: 118,077,642 (GRCm39) |
A1284S |
probably benign |
Het |
Dock4 |
G |
A |
12: 40,787,490 (GRCm39) |
D802N |
probably benign |
Het |
Dsg1a |
T |
C |
18: 20,469,922 (GRCm39) |
|
probably null |
Het |
Elp3 |
C |
T |
14: 65,815,431 (GRCm39) |
R187Q |
probably damaging |
Het |
Ercc3 |
G |
A |
18: 32,387,206 (GRCm39) |
R473Q |
probably damaging |
Het |
F5 |
G |
A |
1: 164,022,116 (GRCm39) |
W1530* |
probably null |
Het |
Fmnl1 |
T |
C |
11: 103,076,491 (GRCm39) |
I219T |
probably damaging |
Het |
Gemin4 |
G |
A |
11: 76,101,663 (GRCm39) |
R1033C |
probably benign |
Het |
Gm2381 |
T |
A |
7: 42,471,820 (GRCm39) |
I20F |
probably benign |
Het |
Hmgcll1 |
A |
G |
9: 75,991,672 (GRCm39) |
M129V |
possibly damaging |
Het |
Ltbp3 |
G |
T |
19: 5,797,849 (GRCm39) |
R496L |
probably benign |
Het |
Mettl13 |
A |
G |
1: 162,373,549 (GRCm39) |
V234A |
probably benign |
Het |
Minar1 |
G |
A |
9: 89,473,208 (GRCm39) |
A901V |
probably benign |
Het |
Or1j4 |
A |
G |
2: 36,740,946 (GRCm39) |
D296G |
probably damaging |
Het |
Pde7a |
A |
T |
3: 19,295,371 (GRCm39) |
C146* |
probably null |
Het |
Pla2g4e |
T |
A |
2: 120,018,992 (GRCm39) |
N202Y |
possibly damaging |
Het |
Plk5 |
G |
A |
10: 80,196,401 (GRCm39) |
|
probably null |
Het |
Plscr1l1 |
G |
A |
9: 92,225,741 (GRCm39) |
|
probably null |
Het |
Ptpn7 |
A |
G |
1: 135,061,582 (GRCm39) |
T15A |
probably benign |
Het |
Rrn3 |
T |
A |
16: 13,631,130 (GRCm39) |
Y655* |
probably null |
Het |
Scarb2 |
C |
T |
5: 92,599,255 (GRCm39) |
G355D |
probably damaging |
Het |
Scd2 |
G |
A |
19: 44,286,502 (GRCm39) |
A111T |
possibly damaging |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
Smurf1 |
T |
C |
5: 144,838,021 (GRCm39) |
T57A |
possibly damaging |
Het |
Tex2 |
T |
C |
11: 106,435,221 (GRCm39) |
H237R |
possibly damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,774,407 (GRCm39) |
D316G |
probably benign |
Het |
Zfp830 |
T |
A |
11: 82,655,800 (GRCm39) |
F201L |
possibly damaging |
Het |
Zic1 |
A |
G |
9: 91,246,133 (GRCm39) |
F313S |
probably damaging |
Het |
|
Other mutations in Spire2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00091:Spire2
|
APN |
8 |
124,080,798 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01610:Spire2
|
APN |
8 |
124,083,502 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01611:Spire2
|
APN |
8 |
124,086,137 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01776:Spire2
|
APN |
8 |
124,086,131 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02164:Spire2
|
APN |
8 |
124,059,703 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03005:Spire2
|
APN |
8 |
124,090,107 (GRCm39) |
missense |
probably benign |
0.16 |
R0127:Spire2
|
UTSW |
8 |
124,084,836 (GRCm39) |
splice site |
probably benign |
|
R0194:Spire2
|
UTSW |
8 |
124,089,750 (GRCm39) |
splice site |
probably benign |
|
R0571:Spire2
|
UTSW |
8 |
124,080,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R1386:Spire2
|
UTSW |
8 |
124,088,105 (GRCm39) |
critical splice donor site |
probably null |
|
R1526:Spire2
|
UTSW |
8 |
124,095,502 (GRCm39) |
missense |
probably benign |
0.08 |
R1538:Spire2
|
UTSW |
8 |
124,084,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R1917:Spire2
|
UTSW |
8 |
124,089,810 (GRCm39) |
missense |
probably benign |
0.00 |
R1919:Spire2
|
UTSW |
8 |
124,089,810 (GRCm39) |
missense |
probably benign |
0.00 |
R2018:Spire2
|
UTSW |
8 |
124,059,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R2019:Spire2
|
UTSW |
8 |
124,059,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R4524:Spire2
|
UTSW |
8 |
124,086,974 (GRCm39) |
missense |
probably benign |
|
R4672:Spire2
|
UTSW |
8 |
124,084,850 (GRCm39) |
missense |
probably benign |
0.06 |
R4931:Spire2
|
UTSW |
8 |
124,095,523 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4973:Spire2
|
UTSW |
8 |
124,083,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Spire2
|
UTSW |
8 |
124,084,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R5899:Spire2
|
UTSW |
8 |
124,080,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R6747:Spire2
|
UTSW |
8 |
124,083,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R6816:Spire2
|
UTSW |
8 |
124,086,152 (GRCm39) |
missense |
probably benign |
0.12 |
R6823:Spire2
|
UTSW |
8 |
124,083,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R7146:Spire2
|
UTSW |
8 |
124,095,989 (GRCm39) |
missense |
probably benign |
0.08 |
R7851:Spire2
|
UTSW |
8 |
124,083,438 (GRCm39) |
splice site |
probably null |
|
R7903:Spire2
|
UTSW |
8 |
124,095,489 (GRCm39) |
missense |
probably benign |
|
R7923:Spire2
|
UTSW |
8 |
124,059,726 (GRCm39) |
missense |
probably benign |
0.00 |
R8181:Spire2
|
UTSW |
8 |
124,088,042 (GRCm39) |
missense |
probably damaging |
0.99 |
R8673:Spire2
|
UTSW |
8 |
124,086,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R9057:Spire2
|
UTSW |
8 |
124,095,547 (GRCm39) |
unclassified |
probably benign |
|
R9404:Spire2
|
UTSW |
8 |
124,090,077 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATGTGTCTCAGCCCATTGTG -3'
(R):5'- TCGACTCTTGATTGCCAGTAG -3'
Sequencing Primer
(F):5'- CAGCCCATTGTGAGCTTTCTGG -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
|
Posted On |
2017-01-03 |