Incidental Mutation 'IGL01776:Spire2'
| ID |
153858 |
| 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 # |
IGL01776
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
124059452-124096254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124086131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 288
(S288P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010298]
[ENSMUST00000127664]
[ENSMUST00000212404]
|
| AlphaFold |
Q8K1S6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010298
AA Change: S388P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000010298
Gene: ENSMUSG00000010154
AA Change: S388P
| 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 damaging
Transcript: ENSMUST00000212404
AA Change: S288P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
G |
A |
5: 90,431,223 (GRCm39) |
Q854* |
probably null |
Het |
| Armc8 |
A |
G |
9: 99,408,936 (GRCm39) |
|
probably benign |
Het |
| Chrna7 |
A |
G |
7: 62,749,267 (GRCm39) |
V405A |
probably benign |
Het |
| Col8a2 |
C |
A |
4: 126,203,598 (GRCm39) |
|
probably benign |
Het |
| Dcn |
A |
G |
10: 97,330,938 (GRCm39) |
I91V |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 98,829,178 (GRCm39) |
R2069S |
possibly damaging |
Het |
| Gm7247 |
A |
G |
14: 51,759,356 (GRCm39) |
S112G |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,547,789 (GRCm39) |
T2721P |
possibly damaging |
Het |
| Hsd3b3 |
T |
C |
3: 98,651,163 (GRCm39) |
T96A |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,552,610 (GRCm39) |
L936F |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,497,907 (GRCm39) |
P477S |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 81,980,133 (GRCm39) |
|
probably null |
Het |
| Mgmt |
T |
A |
7: 136,723,293 (GRCm39) |
L121* |
probably null |
Het |
| Mrps35 |
G |
A |
6: 146,972,214 (GRCm39) |
V286I |
probably benign |
Het |
| Naxd |
T |
C |
8: 11,555,525 (GRCm39) |
|
probably null |
Het |
| Pam |
A |
G |
1: 97,813,325 (GRCm39) |
|
probably null |
Het |
| Plcxd1 |
G |
A |
5: 110,249,246 (GRCm39) |
|
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,117,321 (GRCm39) |
|
probably null |
Het |
| Spag9 |
C |
T |
11: 94,007,553 (GRCm39) |
|
probably benign |
Het |
| Stk11ip |
T |
C |
1: 75,504,465 (GRCm39) |
V322A |
probably benign |
Het |
| Syt17 |
A |
C |
7: 118,009,176 (GRCm39) |
L343R |
probably damaging |
Het |
| Tap1 |
G |
A |
17: 34,412,102 (GRCm39) |
V436I |
possibly damaging |
Het |
| Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
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 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation