Incidental Mutation 'IGL03005:Spire2'
| ID |
407498 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spire2
|
| Ensembl Gene |
ENSMUSG00000010154 |
| Gene Name |
spire type actin nucleation factor 2 |
| Synonyms |
Spir-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
IGL03005
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
124059452-124096254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 124090107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 490
(P490T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010298]
[ENSMUST00000127664]
[ENSMUST00000212404]
|
| AlphaFold |
Q8K1S6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010298
AA Change: P590T
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000010298
Gene: ENSMUSG00000010154
AA Change: P590T
| 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
AA Change: P490T
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt3 |
A |
T |
1: 176,894,793 (GRCm39) |
V268E |
probably damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,953,480 (GRCm39) |
Y468* |
probably null |
Het |
| Apob |
A |
G |
12: 8,043,059 (GRCm39) |
|
probably benign |
Het |
| Arhgap19 |
T |
C |
19: 41,772,856 (GRCm39) |
|
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,660,632 (GRCm39) |
L672P |
probably damaging |
Het |
| Cars1 |
A |
G |
7: 143,112,906 (GRCm39) |
F774L |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,773,973 (GRCm39) |
S128R |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,738,075 (GRCm39) |
N1569S |
probably damaging |
Het |
| Chmp7 |
G |
A |
14: 69,957,277 (GRCm39) |
R294C |
probably damaging |
Het |
| Col10a1 |
A |
T |
10: 34,271,734 (GRCm39) |
I569F |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,795,772 (GRCm39) |
V1169D |
probably damaging |
Het |
| Emg1 |
G |
A |
6: 124,681,557 (GRCm39) |
T229I |
probably damaging |
Het |
| Fmo9 |
C |
T |
1: 166,502,088 (GRCm39) |
S179N |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,912,371 (GRCm39) |
Y667C |
probably damaging |
Het |
| Gpsm2 |
A |
G |
3: 108,594,322 (GRCm39) |
|
probably benign |
Het |
| Gsdma |
A |
T |
11: 98,567,085 (GRCm39) |
E395V |
probably damaging |
Het |
| Gsdmd |
C |
T |
15: 75,739,015 (GRCm39) |
T464M |
possibly damaging |
Het |
| Iqschfp |
C |
A |
3: 68,526,010 (GRCm39) |
Q395K |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,763,136 (GRCm39) |
I36V |
possibly damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,139 (GRCm39) |
S199G |
probably damaging |
Het |
| Lypla1 |
C |
T |
1: 4,902,613 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
C |
T |
9: 107,791,748 (GRCm39) |
Q809* |
probably null |
Het |
| Mtr |
T |
A |
13: 12,250,335 (GRCm39) |
|
probably benign |
Het |
| Or4a39 |
G |
A |
2: 89,237,315 (GRCm39) |
T36I |
possibly damaging |
Het |
| Pax7 |
T |
A |
4: 139,556,007 (GRCm39) |
I156F |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,490,587 (GRCm39) |
L755Q |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,385,351 (GRCm39) |
P1140S |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,668,272 (GRCm39) |
L808P |
probably damaging |
Het |
| Pex1 |
G |
T |
5: 3,680,292 (GRCm39) |
Q971H |
probably null |
Het |
| Pgap6 |
C |
T |
17: 26,337,911 (GRCm39) |
L432F |
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,141,402 (GRCm39) |
V655E |
possibly damaging |
Het |
| Pnpla3 |
C |
T |
15: 84,058,469 (GRCm39) |
R163W |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,237,638 (GRCm39) |
L237P |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,902,340 (GRCm39) |
N442K |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,968,621 (GRCm39) |
D544A |
probably damaging |
Het |
| Zeb1 |
T |
A |
18: 5,767,150 (GRCm39) |
S554T |
probably benign |
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 |
|
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 |
|
R5702:Spire2
|
UTSW |
8 |
124,073,402 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation