Incidental Mutation 'R3815:Spire1'
| ID |
274271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spire1
|
| Ensembl Gene |
ENSMUSG00000024533 |
| Gene Name |
spire type actin nucleation factor 1 |
| Synonyms |
6030430B19Rik, Spir-1 |
| MMRRC Submission |
040770-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
R3815 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
67621279-67743860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 67639733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 273
(T273K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045105]
[ENSMUST00000082243]
[ENSMUST00000115050]
[ENSMUST00000224799]
|
| AlphaFold |
Q52KF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045105
AA Change: T260K
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000049336
Gene: ENSMUSG00000024533
AA Change: T260K
| 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 benign
Transcript: ENSMUST00000082243
AA Change: T273K
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000080871
Gene: ENSMUSG00000024533
AA Change: T273K
| 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 benign
Transcript: ENSMUST00000115050
AA Change: T273K
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000110702
Gene: ENSMUSG00000024533
AA Change: T273K
| 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 |
probably benign
Transcript: ENSMUST00000224122
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224799
AA Change: T190K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Meta Mutation Damage Score |
0.0633 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
A |
G |
19: 40,558,944 (GRCm39) |
S299P |
probably damaging |
Het |
| Ankrd6 |
A |
C |
4: 32,806,206 (GRCm39) |
S618R |
probably benign |
Het |
| Apobec3 |
G |
T |
15: 79,783,301 (GRCm39) |
R126M |
possibly damaging |
Het |
| Arl8b |
T |
A |
6: 108,790,658 (GRCm39) |
V65D |
probably damaging |
Het |
| AW554918 |
C |
T |
18: 25,533,104 (GRCm39) |
R253C |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
| Cdca7l |
G |
A |
12: 117,835,948 (GRCm39) |
V95I |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,928,467 (GRCm39) |
|
probably null |
Het |
| Cfap90 |
A |
G |
13: 68,759,344 (GRCm39) |
H106R |
probably damaging |
Het |
| Coq5 |
T |
G |
5: 115,433,957 (GRCm39) |
F306V |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,485,349 (GRCm39) |
V501A |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
| Cul5 |
T |
A |
9: 53,534,243 (GRCm39) |
I630L |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Dedd |
A |
G |
1: 171,166,469 (GRCm39) |
E135G |
probably benign |
Het |
| Ecel1 |
A |
G |
1: 87,080,622 (GRCm39) |
F368S |
probably damaging |
Het |
| Ext1 |
A |
C |
15: 53,208,485 (GRCm39) |
I92S |
probably benign |
Het |
| Fbxw5 |
A |
T |
2: 25,393,576 (GRCm39) |
D268V |
possibly damaging |
Het |
| Flacc1 |
T |
G |
1: 58,698,164 (GRCm39) |
N379T |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,302,034 (GRCm39) |
V192E |
possibly damaging |
Het |
| Gm11077 |
T |
G |
6: 140,675,041 (GRCm39) |
V11G |
unknown |
Het |
| Ift88 |
A |
T |
14: 57,678,438 (GRCm39) |
E150V |
possibly damaging |
Het |
| Kcna1 |
T |
C |
6: 126,620,009 (GRCm39) |
R104G |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Krt82 |
A |
G |
15: 101,459,035 (GRCm39) |
S2P |
probably damaging |
Het |
| Luc7l2 |
T |
C |
6: 38,547,526 (GRCm39) |
S69P |
possibly damaging |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Mamstr |
G |
T |
7: 45,293,956 (GRCm39) |
R20L |
probably damaging |
Het |
| Nav1 |
C |
A |
1: 135,398,862 (GRCm39) |
K573N |
possibly damaging |
Het |
| Or5b104 |
T |
C |
19: 13,072,277 (GRCm39) |
H245R |
probably damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Palld |
T |
A |
8: 62,002,871 (GRCm39) |
|
probably benign |
Het |
| Pcdha2 |
A |
G |
18: 37,074,748 (GRCm39) |
Y793C |
probably benign |
Het |
| Pcdhb4 |
A |
T |
18: 37,441,065 (GRCm39) |
D125V |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,883,359 (GRCm39) |
E329V |
probably damaging |
Het |
| Rarres1 |
T |
A |
3: 67,422,654 (GRCm39) |
D32V |
probably benign |
Het |
| Rhobtb1 |
A |
G |
10: 69,121,523 (GRCm39) |
H53R |
possibly damaging |
Het |
| Ryr1 |
A |
T |
7: 28,772,327 (GRCm39) |
S2494T |
probably damaging |
Het |
| Sapcd2 |
G |
A |
2: 25,263,518 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Senp1 |
A |
C |
15: 97,954,713 (GRCm39) |
D490E |
probably damaging |
Het |
| Sfrp5 |
C |
T |
19: 42,187,230 (GRCm39) |
R280H |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,703,496 (GRCm39) |
T499I |
possibly damaging |
Het |
| Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Tep1 |
T |
C |
14: 51,105,772 (GRCm39) |
T83A |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,552,077 (GRCm39) |
R29441* |
probably null |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
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 |
|
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'- TCTTACCTTCACAGACTGGAAC -3'
(R):5'- TCGCTGTACTGAGCCTTTG -3'
Sequencing Primer
(F):5'- TACCTTCACAGACTGGAACTTAGAG -3'
(R):5'- AGCCTTTGTGTTTTTATTTGTGTGAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation