Incidental Mutation 'PIT4677001:Spire1'
| ID |
556579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spire1
|
| Ensembl Gene |
ENSMUSG00000024533 |
| Gene Name |
spire type actin nucleation factor 1 |
| Synonyms |
6030430B19Rik, Spir-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
PIT4677001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
67488209-67610790 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67491365 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 575
(T575A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045105]
[ENSMUST00000082243]
[ENSMUST00000115050]
[ENSMUST00000224799]
|
| AlphaFold |
Q52KF3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045105
AA Change: T620A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049336
Gene: ENSMUSG00000024533
AA Change: T620A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KIND
|
1 |
78 |
3.3e-27 |
PFAM |
|
PDB:4EFH|B
|
176 |
232 |
9e-6 |
PDB |
|
low complexity region
|
289 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
350 |
N/A |
INTRINSIC |
|
SCOP:d1zbdb_
|
445 |
518 |
1e-7 |
SMART |
|
low complexity region
|
596 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082243
AA Change: T575A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080871
Gene: ENSMUSG00000024533
AA Change: T575A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KIND
|
1 |
73 |
2e-26 |
BLAST |
|
PDB:3RBW|D
|
1 |
79 |
3e-28 |
PDB |
|
PDB:4EFH|B
|
176 |
232 |
9e-6 |
PDB |
|
low complexity region
|
302 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
363 |
N/A |
INTRINSIC |
|
SCOP:d1zbdb_
|
400 |
473 |
2e-7 |
SMART |
|
low complexity region
|
551 |
561 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115050
AA Change: T575A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110702
Gene: ENSMUSG00000024533
AA Change: T575A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4EFH|B
|
106 |
162 |
9e-6 |
PDB |
|
low complexity region
|
219 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
280 |
N/A |
INTRINSIC |
|
SCOP:d1zbdb_
|
317 |
390 |
4e-7 |
SMART |
|
low complexity region
|
468 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224799
AA Change: T492A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 71.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with normal brain anatomy and intact visual and motor functions in both sexes, but show a male-specific increase in contextual and cued fear memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
T |
A |
2: 127,187,013 (GRCm38) |
T89S |
probably benign |
Het |
| 4921517D22Rik |
A |
T |
13: 59,690,491 (GRCm38) |
F176I |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,775,117 (GRCm38) |
D264G |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,286,810 (GRCm38) |
F834I |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 80,020,749 (GRCm38) |
M171L |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,098,011 (GRCm38) |
M687K |
probably damaging |
Het |
| AU040320 |
A |
T |
4: 126,792,237 (GRCm38) |
Q202L |
probably benign |
Het |
| Ccdc47 |
A |
G |
11: 106,208,208 (GRCm38) |
L219P |
probably damaging |
Het |
| Cfhr2 |
T |
G |
1: 139,805,379 (GRCm38) |
S301R |
unknown |
Het |
| Cog2 |
T |
A |
8: 124,545,271 (GRCm38) |
V508E |
probably benign |
Het |
| Cpb2 |
A |
G |
14: 75,256,023 (GRCm38) |
T47A |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 61,972,254 (GRCm38) |
K692I |
possibly damaging |
Het |
| Defb34 |
A |
T |
8: 19,126,396 (GRCm38) |
R34S |
possibly damaging |
Het |
| Fads2 |
A |
T |
19: 10,070,330 (GRCm38) |
I275N |
probably damaging |
Het |
| Fam196b |
A |
T |
11: 34,403,122 (GRCm38) |
N388I |
probably benign |
Het |
| Fmn2 |
T |
G |
1: 174,647,133 (GRCm38) |
S1221A |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,574,595 (GRCm38) |
V302E |
probably benign |
Het |
| Galntl6 |
C |
T |
8: 57,857,587 (GRCm38) |
C360Y |
probably damaging |
Het |
| Gm14025 |
T |
C |
2: 129,038,716 (GRCm38) |
D430G |
|
Het |
| Gm16519 |
A |
T |
17: 70,929,511 (GRCm38) |
I152F |
probably benign |
Het |
| Hnrnpr |
T |
A |
4: 136,329,439 (GRCm38) |
V250D |
probably damaging |
Het |
| Hs3st6 |
A |
G |
17: 24,758,311 (GRCm38) |
D255G |
possibly damaging |
Het |
| Ino80 |
C |
T |
2: 119,377,545 (GRCm38) |
V1422M |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 25,905,993 (GRCm38) |
I669V |
probably benign |
Het |
| Layn |
A |
T |
9: 51,057,411 (GRCm38) |
V344E |
probably damaging |
Het |
| Mgll |
A |
T |
6: 88,825,681 (GRCm38) |
R273W |
possibly damaging |
Het |
| Myh2 |
G |
A |
11: 67,181,992 (GRCm38) |
S636N |
probably benign |
Het |
| Nmur2 |
A |
T |
11: 56,033,009 (GRCm38) |
S240T |
probably benign |
Het |
| Pkd1 |
T |
G |
17: 24,574,029 (GRCm38) |
S1563R |
possibly damaging |
Het |
| Ppp4r3b |
G |
A |
11: 29,187,978 (GRCm38) |
V109I |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 143,135,078 (GRCm38) |
D547E |
probably damaging |
Het |
| Prss46 |
A |
T |
9: 110,856,030 (GRCm38) |
M241L |
probably benign |
Het |
| Ptprf |
T |
A |
4: 118,213,612 (GRCm38) |
I1397F |
probably damaging |
Het |
| Pus10 |
A |
T |
11: 23,720,171 (GRCm38) |
T418S |
possibly damaging |
Het |
| Qsox2 |
T |
C |
2: 26,222,308 (GRCm38) |
D74G |
probably damaging |
Het |
| Sctr |
T |
C |
1: 120,061,904 (GRCm38) |
V383A |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 131,072,757 (GRCm38) |
N1480Y |
probably damaging |
Het |
| Skint2 |
T |
C |
4: 112,625,938 (GRCm38) |
I180T |
probably benign |
Het |
| Snd1 |
A |
G |
6: 28,880,296 (GRCm38) |
I690V |
probably benign |
Het |
| Srbd1 |
G |
A |
17: 86,115,212 (GRCm38) |
R459* |
probably null |
Het |
| Tll2 |
C |
A |
19: 41,130,558 (GRCm38) |
V244L |
probably benign |
Het |
| Tmem60 |
A |
G |
5: 20,886,368 (GRCm38) |
I44V |
probably benign |
Het |
| Ttc30a1 |
A |
G |
2: 75,979,769 (GRCm38) |
Y657H |
possibly damaging |
Het |
| Utrn |
T |
A |
10: 12,666,704 (GRCm38) |
I1846F |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,500,334 (GRCm38) |
F641S |
possibly damaging |
Het |
|
| Other mutations in Spire1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Spire1
|
APN |
18 |
67,529,015 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01639:Spire1
|
APN |
18 |
67,545,668 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL02334:Spire1
|
APN |
18 |
67,506,655 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0457:Spire1
|
UTSW |
18 |
67,552,600 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0531:Spire1
|
UTSW |
18 |
67,491,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0608:Spire1
|
UTSW |
18 |
67,528,875 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2098:Spire1
|
UTSW |
18 |
67,503,466 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2299:Spire1
|
UTSW |
18 |
67,530,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3028:Spire1
|
UTSW |
18 |
67,491,347 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3815:Spire1
|
UTSW |
18 |
67,506,663 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4049:Spire1
|
UTSW |
18 |
67,529,031 (GRCm38) |
splice site |
probably null |
|
|
R4050:Spire1
|
UTSW |
18 |
67,529,031 (GRCm38) |
splice site |
probably null |
|
|
R4059:Spire1
|
UTSW |
18 |
67,545,713 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4109:Spire1
|
UTSW |
18 |
67,497,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4700:Spire1
|
UTSW |
18 |
67,512,865 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4941:Spire1
|
UTSW |
18 |
67,519,314 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R4995:Spire1
|
UTSW |
18 |
67,552,779 (GRCm38) |
splice site |
probably null |
|
|
R5363:Spire1
|
UTSW |
18 |
67,506,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5561:Spire1
|
UTSW |
18 |
67,506,646 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5795:Spire1
|
UTSW |
18 |
67,495,195 (GRCm38) |
missense |
probably benign |
|
|
R5952:Spire1
|
UTSW |
18 |
67,506,709 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5982:Spire1
|
UTSW |
18 |
67,497,316 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7388:Spire1
|
UTSW |
18 |
67,519,880 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7559:Spire1
|
UTSW |
18 |
67,501,117 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8006:Spire1
|
UTSW |
18 |
67,501,181 (GRCm38) |
nonsense |
probably null |
|
|
R8111:Spire1
|
UTSW |
18 |
67,519,321 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8675:Spire1
|
UTSW |
18 |
67,491,308 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8946:Spire1
|
UTSW |
18 |
67,496,616 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9441:Spire1
|
UTSW |
18 |
67,519,392 (GRCm38) |
missense |
probably benign |
0.41 |
|
R9706:Spire1
|
UTSW |
18 |
67,503,438 (GRCm38) |
missense |
probably benign |
0.39 |
|
T0970:Spire1
|
UTSW |
18 |
67,501,063 (GRCm38) |
splice site |
probably null |
|
|
Z1088:Spire1
|
UTSW |
18 |
67,495,152 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACACAGCCTTGAGTCTGTG -3'
(R):5'- TCCACAAAATCCAGGTCTGTG -3'
Sequencing Primer
(F):5'- ACAGCCTTGAGTCTGTGTCTCAG -3'
(R):5'- TCCAGGTCTGTGGACAAGTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation