Incidental Mutation 'R8675:Spire1'
| ID |
661364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spire1
|
| Ensembl Gene |
ENSMUSG00000024533 |
| Gene Name |
spire type actin nucleation factor 1 |
| Synonyms |
6030430B19Rik, Spir-1 |
| MMRRC Submission |
068530-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
R8675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
67621279-67743860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67624378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 594
(T594A)
|
| 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: T639A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049336
Gene: ENSMUSG00000024533
AA Change: T639A
| 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 |
possibly damaging
Transcript: ENSMUST00000082243
AA Change: T594A
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000080871
Gene: ENSMUSG00000024533
AA Change: T594A
| 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 |
possibly damaging
Transcript: ENSMUST00000115050
AA Change: T594A
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110702
Gene: ENSMUSG00000024533
AA Change: T594A
| 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 |
possibly damaging
Transcript: ENSMUST00000224799
AA Change: T511A
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| Abl2 |
T |
C |
1: 156,452,909 (GRCm39) |
V148A |
probably damaging |
Het |
| Cacng7 |
G |
A |
7: 3,385,221 (GRCm39) |
V41I |
probably benign |
Het |
| Clrn3 |
A |
G |
7: 135,115,880 (GRCm39) |
S157P |
possibly damaging |
Het |
| Dsg2 |
T |
A |
18: 20,734,975 (GRCm39) |
N984K |
possibly damaging |
Het |
| Fam83e |
A |
G |
7: 45,373,293 (GRCm39) |
T220A |
probably benign |
Het |
| Frk |
A |
G |
10: 34,484,493 (GRCm39) |
T489A |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,331,438 (GRCm39) |
H195Q |
unknown |
Het |
| Gm49380 |
C |
T |
9: 44,023,187 (GRCm39) |
A354T |
probably benign |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,469 (GRCm39) |
T249A |
possibly damaging |
Het |
| Il17ra |
T |
A |
6: 120,458,949 (GRCm39) |
M700K |
probably benign |
Het |
| Il20 |
A |
T |
1: 130,835,172 (GRCm39) |
W171R |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,986,926 (GRCm39) |
Y134C |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 70,916,500 (GRCm39) |
S178G |
probably benign |
Het |
| Pcdh1 |
A |
G |
18: 38,332,229 (GRCm39) |
V397A |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,158,896 (GRCm39) |
Y499C |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,607,183 (GRCm39) |
L337P |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pih1d1 |
A |
G |
7: 44,803,806 (GRCm39) |
K22E |
unknown |
Het |
| Pkd1l1 |
A |
G |
11: 8,798,916 (GRCm39) |
|
probably null |
Het |
| Pld2 |
A |
G |
11: 70,445,713 (GRCm39) |
D649G |
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,785,002 (GRCm39) |
T753A |
possibly damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,547,782 (GRCm39) |
L141M |
probably damaging |
Het |
| Rasgrp4 |
G |
A |
7: 28,842,452 (GRCm39) |
G242D |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,346,984 (GRCm39) |
S3682P |
|
Het |
| Scnn1b |
A |
G |
7: 121,498,474 (GRCm39) |
K5E |
probably damaging |
Het |
| Smbd1 |
T |
C |
16: 32,625,340 (GRCm39) |
*142W |
probably null |
Het |
| Snrnp200 |
A |
G |
2: 127,074,443 (GRCm39) |
T1428A |
possibly damaging |
Het |
| Speer1b |
C |
T |
5: 11,823,973 (GRCm39) |
R174* |
probably null |
Het |
| Spta1 |
A |
G |
1: 174,058,249 (GRCm39) |
T1906A |
probably benign |
Het |
| Stx16 |
T |
C |
2: 173,934,255 (GRCm39) |
S152P |
probably benign |
Het |
| Tcp11 |
T |
A |
17: 28,288,565 (GRCm39) |
Q331L |
probably benign |
Het |
| Tmem106a |
T |
A |
11: 101,481,222 (GRCm39) |
Y243* |
probably null |
Het |
| Tmem268 |
C |
T |
4: 63,502,108 (GRCm39) |
T312M |
probably damaging |
Het |
| Ttc9 |
T |
G |
12: 81,707,379 (GRCm39) |
V146G |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,850,865 (GRCm39) |
I1758N |
probably damaging |
Het |
| Unc13a |
G |
A |
8: 72,098,359 (GRCm39) |
T1142I |
probably benign |
Het |
| Vipr1 |
T |
C |
9: 121,493,732 (GRCm39) |
L261P |
probably damaging |
Het |
| Vmn1r222 |
A |
T |
13: 23,416,607 (GRCm39) |
V202E |
probably damaging |
Het |
| Zfp78 |
A |
G |
7: 6,381,280 (GRCm39) |
N110S |
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 |
|
R3028:Spire1
|
UTSW |
18 |
67,624,417 (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 |
|
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'- TGCAAATGACCAAGTGGCTG -3'
(R):5'- TCCCAAAGAGCTCATGGAGGAC -3'
Sequencing Primer
(F):5'- ATGACCAAGTGGCTGACCTG -3'
(R):5'- CTCATGGAGGACTGGAGCAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation