Incidental Mutation 'R5795:Spire1'
| ID |
447201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spire1
|
| Ensembl Gene |
ENSMUSG00000024533 |
| Gene Name |
spire type actin nucleation factor 1 |
| Synonyms |
6030430B19Rik, Spir-1 |
| MMRRC Submission |
043386-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
R5795 (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 T
at 67628265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 412
(S412T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045105]
[ENSMUST00000082243]
[ENSMUST00000115050]
[ENSMUST00000224799]
|
| AlphaFold |
Q52KF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045105
AA Change: S540T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049336
Gene: ENSMUSG00000024533
AA Change: S540T
| 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: S495T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000080871
Gene: ENSMUSG00000024533
AA Change: S495T
| 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: S495T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110702
Gene: ENSMUSG00000024533
AA Change: S495T
| 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: S240T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224659
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224799
AA Change: S412T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226000
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
G |
9: 104,186,688 (GRCm39) |
V261A |
probably benign |
Het |
| Adipor1 |
C |
A |
1: 134,352,641 (GRCm39) |
N137K |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,989,746 (GRCm39) |
K3677* |
probably null |
Het |
| Ankrd24 |
C |
A |
10: 81,480,937 (GRCm39) |
|
probably benign |
Het |
| Appl1 |
G |
T |
14: 26,664,773 (GRCm39) |
P420Q |
probably benign |
Het |
| Bmp8b |
C |
A |
4: 123,015,761 (GRCm39) |
F249L |
possibly damaging |
Het |
| Brat1 |
G |
T |
5: 140,698,827 (GRCm39) |
A275S |
probably benign |
Het |
| C5ar1 |
T |
C |
7: 15,982,319 (GRCm39) |
K234E |
possibly damaging |
Het |
| Cblif |
A |
G |
19: 11,737,740 (GRCm39) |
T384A |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,883,367 (GRCm39) |
|
probably null |
Het |
| Chmp5 |
T |
G |
4: 40,950,562 (GRCm39) |
|
probably null |
Het |
| Chrna3 |
T |
A |
9: 54,922,552 (GRCm39) |
T419S |
probably benign |
Het |
| Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 140,769,118 (GRCm39) |
|
probably null |
Het |
| Csf3 |
G |
T |
11: 98,592,853 (GRCm39) |
C72F |
probably damaging |
Het |
| Dbndd1 |
A |
G |
8: 124,236,619 (GRCm39) |
I83T |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,248,309 (GRCm39) |
K287E |
probably damaging |
Het |
| F5 |
C |
T |
1: 163,979,578 (GRCm39) |
T16I |
probably benign |
Het |
| Hephl1 |
C |
T |
9: 14,981,056 (GRCm39) |
G792E |
probably damaging |
Het |
| Hmmr |
T |
A |
11: 40,612,733 (GRCm39) |
D158V |
probably damaging |
Het |
| Hsd11b1 |
A |
G |
1: 192,922,940 (GRCm39) |
S76P |
possibly damaging |
Het |
| Ilvbl |
T |
C |
10: 78,412,978 (GRCm39) |
S167P |
probably benign |
Het |
| Irf7 |
G |
A |
7: 140,845,029 (GRCm39) |
P118L |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,103,722 (GRCm39) |
N1981S |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,304,816 (GRCm39) |
D224G |
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,498,616 (GRCm39) |
Y594H |
possibly damaging |
Het |
| Minpp1 |
G |
A |
19: 32,491,557 (GRCm39) |
V412M |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,425,478 (GRCm39) |
V4708M |
possibly damaging |
Het |
| Mycl |
G |
A |
4: 122,890,415 (GRCm39) |
E34K |
probably damaging |
Het |
| Oaf |
T |
A |
9: 43,135,241 (GRCm39) |
D179V |
probably damaging |
Het |
| Ogfod2 |
G |
A |
5: 124,252,824 (GRCm39) |
G278D |
probably damaging |
Het |
| Or2h1 |
A |
G |
17: 37,404,661 (GRCm39) |
L35P |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,188 (GRCm39) |
F162L |
possibly damaging |
Het |
| Paf1 |
T |
G |
7: 28,096,043 (GRCm39) |
M250R |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,008,420 (GRCm39) |
T48A |
possibly damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,192,862 (GRCm39) |
V1096A |
possibly damaging |
Het |
| Polr3b |
T |
C |
10: 84,512,875 (GRCm39) |
S586P |
probably damaging |
Het |
| Polr3b |
A |
T |
10: 84,464,116 (GRCm39) |
E25D |
probably benign |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc28a2b |
T |
C |
2: 122,348,475 (GRCm39) |
M274T |
possibly damaging |
Het |
| Slc31a2 |
T |
C |
4: 62,215,289 (GRCm39) |
V112A |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,637,926 (GRCm39) |
T876A |
possibly damaging |
Het |
| Tango6 |
T |
A |
8: 107,444,709 (GRCm39) |
L538H |
probably damaging |
Het |
| Tas2r125 |
G |
A |
6: 132,886,621 (GRCm39) |
G3D |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,091,158 (GRCm39) |
M125K |
possibly damaging |
Het |
| Traf5 |
T |
C |
1: 191,731,807 (GRCm39) |
S345G |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,175,594 (GRCm39) |
I1231F |
probably benign |
Het |
| Vmn2r104 |
G |
T |
17: 20,250,372 (GRCm39) |
T633N |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,250,544 (GRCm39) |
S576P |
possibly damaging |
Het |
| Vmn2r105 |
A |
T |
17: 20,448,998 (GRCm39) |
C60S |
probably benign |
Het |
| Zfp316 |
A |
T |
5: 143,248,594 (GRCm39) |
D217E |
unknown |
Het |
| Zfp456 |
A |
T |
13: 67,515,039 (GRCm39) |
D222E |
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 |
|
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'- GAATTGTGCCAAACTGAAACTACTC -3'
(R):5'- GTTTTGTACACAGGCCCGTG -3'
Sequencing Primer
(F):5'- TGAAACTACTCAAACCAATGACCTGG -3'
(R):5'- TGTGCTCACAGTGTTGCAAAAAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation