Incidental Mutation 'R3028:Spire1'
ID |
265893 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spire1
|
Ensembl Gene |
ENSMUSG00000024533 |
Gene Name |
spire type actin nucleation factor 1 |
Synonyms |
6030430B19Rik, Spir-1 |
MMRRC Submission |
040544-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.262)
|
Stock # |
R3028 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
67621279-67743860 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 67624417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 581
(S581A)
|
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: S626A
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000049336 Gene: ENSMUSG00000024533 AA Change: S626A
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: S581A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000080871 Gene: ENSMUSG00000024533 AA Change: S581A
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: S581A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000110702 Gene: ENSMUSG00000024533 AA Change: S581A
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 |
unknown
Transcript: ENSMUST00000224122
AA Change: S326A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224189
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224659
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224799
AA Change: S498A
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angpt2 |
T |
G |
8: 18,753,560 (GRCm39) |
K289Q |
probably benign |
Het |
Avl9 |
T |
A |
6: 56,707,672 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
A |
G |
4: 133,801,095 (GRCm39) |
K752E |
probably benign |
Het |
Cyp4a10 |
T |
C |
4: 115,375,628 (GRCm39) |
F37S |
possibly damaging |
Het |
Gtpbp1 |
C |
T |
15: 79,600,080 (GRCm39) |
T369I |
possibly damaging |
Het |
Hcrtr1 |
C |
A |
4: 130,029,604 (GRCm39) |
R159L |
probably benign |
Het |
Hipk3 |
T |
C |
2: 104,264,135 (GRCm39) |
I809V |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Klhdc4 |
C |
T |
8: 122,526,288 (GRCm39) |
V284M |
probably damaging |
Het |
N6amt1 |
C |
G |
16: 87,159,536 (GRCm39) |
H147Q |
probably benign |
Het |
Pdgfra |
A |
T |
5: 75,335,642 (GRCm39) |
H425L |
probably damaging |
Het |
Phlpp2 |
C |
T |
8: 110,634,245 (GRCm39) |
A240V |
probably damaging |
Het |
Ppib |
A |
T |
9: 65,973,589 (GRCm39) |
K181* |
probably null |
Het |
Rab11fip3 |
A |
G |
17: 26,234,916 (GRCm39) |
|
probably null |
Het |
Sftpc |
A |
T |
14: 70,758,865 (GRCm39) |
H161Q |
probably benign |
Het |
Sigirr |
A |
G |
7: 140,672,192 (GRCm39) |
L251P |
probably damaging |
Het |
Skint6 |
A |
T |
4: 113,093,690 (GRCm39) |
M151K |
possibly damaging |
Het |
Spc24 |
AGAGGTAGTCACTGA |
AGA |
9: 21,667,511 (GRCm39) |
|
probably null |
Het |
Speer3 |
T |
A |
5: 13,845,445 (GRCm39) |
N159K |
probably damaging |
Het |
Susd6 |
C |
T |
12: 80,921,234 (GRCm39) |
T277I |
probably damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
|
Other mutations in Spire1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00423:Spire1
|
APN |
18 |
67,662,085 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01639:Spire1
|
APN |
18 |
67,678,738 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02334:Spire1
|
APN |
18 |
67,639,725 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4677001:Spire1
|
UTSW |
18 |
67,624,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R0457:Spire1
|
UTSW |
18 |
67,685,670 (GRCm39) |
missense |
probably damaging |
0.98 |
R0531:Spire1
|
UTSW |
18 |
67,624,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R0608:Spire1
|
UTSW |
18 |
67,661,945 (GRCm39) |
missense |
probably damaging |
0.99 |
R2098:Spire1
|
UTSW |
18 |
67,636,536 (GRCm39) |
missense |
probably damaging |
0.99 |
R2299:Spire1
|
UTSW |
18 |
67,663,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R3815:Spire1
|
UTSW |
18 |
67,639,733 (GRCm39) |
missense |
probably benign |
0.05 |
R4049:Spire1
|
UTSW |
18 |
67,662,101 (GRCm39) |
splice site |
probably null |
|
R4050:Spire1
|
UTSW |
18 |
67,662,101 (GRCm39) |
splice site |
probably null |
|
R4059:Spire1
|
UTSW |
18 |
67,678,783 (GRCm39) |
missense |
probably damaging |
0.98 |
R4109:Spire1
|
UTSW |
18 |
67,630,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R4700:Spire1
|
UTSW |
18 |
67,645,935 (GRCm39) |
missense |
probably benign |
0.01 |
R4941:Spire1
|
UTSW |
18 |
67,652,384 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4995:Spire1
|
UTSW |
18 |
67,685,849 (GRCm39) |
splice site |
probably null |
|
R5363:Spire1
|
UTSW |
18 |
67,639,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R5561:Spire1
|
UTSW |
18 |
67,639,716 (GRCm39) |
missense |
probably damaging |
0.96 |
R5795:Spire1
|
UTSW |
18 |
67,628,265 (GRCm39) |
missense |
probably benign |
|
R5952:Spire1
|
UTSW |
18 |
67,639,779 (GRCm39) |
missense |
probably benign |
0.00 |
R5982:Spire1
|
UTSW |
18 |
67,630,386 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7388:Spire1
|
UTSW |
18 |
67,652,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R7559:Spire1
|
UTSW |
18 |
67,634,187 (GRCm39) |
missense |
probably benign |
0.04 |
R8006:Spire1
|
UTSW |
18 |
67,634,251 (GRCm39) |
nonsense |
probably null |
|
R8111:Spire1
|
UTSW |
18 |
67,652,391 (GRCm39) |
missense |
probably damaging |
0.98 |
R8675:Spire1
|
UTSW |
18 |
67,624,378 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8946:Spire1
|
UTSW |
18 |
67,629,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R9441:Spire1
|
UTSW |
18 |
67,652,462 (GRCm39) |
missense |
probably benign |
0.41 |
R9706:Spire1
|
UTSW |
18 |
67,636,508 (GRCm39) |
missense |
probably benign |
0.39 |
T0970:Spire1
|
UTSW |
18 |
67,634,133 (GRCm39) |
splice site |
probably null |
|
Z1088:Spire1
|
UTSW |
18 |
67,628,222 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGCTGATATGAACACAGCC -3'
(R):5'- TCCAGGTCTGTGGACAAGTC -3'
Sequencing Primer
(F):5'- AACACAGCCTTGAGTCTGTG -3'
(R):5'- TCCGATGAGGAGCTCCAGTTTC -3'
|
Posted On |
2015-02-05 |