Incidental Mutation 'R4525:Sipa1'
| ID |
334426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sipa1
|
| Ensembl Gene |
ENSMUSG00000056917 |
| Gene Name |
signal-induced proliferation associated gene 1 |
| Synonyms |
SPA-1 |
| MMRRC Submission |
041767-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4525 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5701213-5713735 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5701985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 947
(Q947L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025867]
[ENSMUST00000071857]
[ENSMUST00000080824]
[ENSMUST00000164304]
[ENSMUST00000169854]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025867
|
| SMART Domains |
Protein: ENSMUSP00000025867
Gene: ENSMUSG00000024927
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RHD_DNA_bind
|
21 |
186 |
3.6e-72 |
PFAM |
|
IPT
|
193 |
289 |
2.81e-22 |
SMART |
|
low complexity region
|
377 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
417 |
N/A |
INTRINSIC |
|
PDB:2LWW|B
|
425 |
490 |
1e-37 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071857
AA Change: Q947L
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917
AA Change: Q947L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
292 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
346 |
529 |
7.2e-64 |
PFAM |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
PDZ
|
692 |
758 |
9.51e-7 |
SMART |
|
low complexity region
|
828 |
841 |
N/A |
INTRINSIC |
|
low complexity region
|
872 |
883 |
N/A |
INTRINSIC |
|
coiled coil region
|
969 |
1023 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080824
AA Change: Q947L
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917
AA Change: Q947L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
292 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
346 |
535 |
4.4e-60 |
PFAM |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
PDZ
|
692 |
758 |
9.51e-7 |
SMART |
|
low complexity region
|
828 |
841 |
N/A |
INTRINSIC |
|
low complexity region
|
872 |
883 |
N/A |
INTRINSIC |
|
coiled coil region
|
969 |
1023 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164304
AA Change: Q947L
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917
AA Change: Q947L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
292 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
346 |
535 |
4.4e-60 |
PFAM |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
PDZ
|
692 |
758 |
9.51e-7 |
SMART |
|
low complexity region
|
828 |
841 |
N/A |
INTRINSIC |
|
low complexity region
|
872 |
883 |
N/A |
INTRINSIC |
|
coiled coil region
|
969 |
1023 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169854
AA Change: Q947L
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917
AA Change: Q947L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
292 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
346 |
535 |
4.4e-60 |
PFAM |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
PDZ
|
692 |
758 |
9.51e-7 |
SMART |
|
low complexity region
|
828 |
841 |
N/A |
INTRINSIC |
|
low complexity region
|
872 |
883 |
N/A |
INTRINSIC |
|
coiled coil region
|
969 |
1023 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display chronic myelocytic leukemia in either the chronic phase or blast crisis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
A |
G |
2: 32,464,388 (GRCm39) |
|
probably benign |
Het |
| Ampd1 |
T |
C |
3: 103,002,049 (GRCm39) |
V510A |
probably damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,609 (GRCm39) |
Y495C |
probably damaging |
Het |
| Asap2 |
G |
A |
12: 21,279,293 (GRCm39) |
|
probably null |
Het |
| Cd47 |
T |
C |
16: 49,688,155 (GRCm39) |
V25A |
probably benign |
Het |
| Cer1 |
A |
G |
4: 82,802,906 (GRCm39) |
F139L |
possibly damaging |
Het |
| Cpne3 |
G |
T |
4: 19,523,206 (GRCm39) |
P527H |
probably damaging |
Het |
| Erbin |
T |
C |
13: 103,993,600 (GRCm39) |
I347V |
probably benign |
Het |
| Gm17542 |
T |
C |
10: 58,549,435 (GRCm39) |
D31G |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,309,289 (GRCm39) |
C510S |
probably benign |
Het |
| Hnrnpk |
A |
G |
13: 58,541,696 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
T |
A |
9: 106,447,827 (GRCm39) |
Q27H |
possibly damaging |
Het |
| Kcna4 |
C |
A |
2: 107,125,410 (GRCm39) |
T48K |
possibly damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,444,608 (GRCm39) |
C336S |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,796,387 (GRCm39) |
T306A |
probably benign |
Het |
| Oplah |
G |
T |
15: 76,189,709 (GRCm39) |
L176M |
probably damaging |
Het |
| Pon1 |
T |
C |
6: 5,177,412 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,966 (GRCm39) |
I3932T |
probably damaging |
Het |
| Shank1 |
A |
T |
7: 44,004,014 (GRCm39) |
H1902L |
possibly damaging |
Het |
| Slit2 |
G |
T |
5: 48,407,215 (GRCm39) |
C882F |
probably damaging |
Het |
| Speer4a1 |
A |
T |
5: 26,244,341 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
G |
1: 174,034,676 (GRCm39) |
D1035G |
probably null |
Het |
| Tas2r140 |
T |
C |
6: 133,032,207 (GRCm39) |
T184A |
possibly damaging |
Het |
| Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
| Tmem161b |
T |
C |
13: 84,405,921 (GRCm39) |
I50T |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,561,397 (GRCm39) |
N628D |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,779,005 (GRCm39) |
T102A |
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,787 (GRCm39) |
N563K |
probably damaging |
Het |
|
| Other mutations in Sipa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01521:Sipa1
|
APN |
19 |
5,711,006 (GRCm39) |
start codon destroyed |
probably null |
0.79 |
|
IGL01837:Sipa1
|
APN |
19 |
5,702,099 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02858:Sipa1
|
APN |
19 |
5,705,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03024:Sipa1
|
APN |
19 |
5,706,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0277:Sipa1
|
UTSW |
19 |
5,704,093 (GRCm39) |
missense |
probably benign |
|
|
R0831:Sipa1
|
UTSW |
19 |
5,710,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0841:Sipa1
|
UTSW |
19 |
5,704,835 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1102:Sipa1
|
UTSW |
19 |
5,702,782 (GRCm39) |
missense |
probably benign |
|
|
R1459:Sipa1
|
UTSW |
19 |
5,701,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Sipa1
|
UTSW |
19 |
5,701,475 (GRCm39) |
missense |
probably benign |
|
|
R2422:Sipa1
|
UTSW |
19 |
5,702,140 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3741:Sipa1
|
UTSW |
19 |
5,704,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3924:Sipa1
|
UTSW |
19 |
5,710,407 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4231:Sipa1
|
UTSW |
19 |
5,704,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Sipa1
|
UTSW |
19 |
5,710,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5176:Sipa1
|
UTSW |
19 |
5,709,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Sipa1
|
UTSW |
19 |
5,705,786 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5375:Sipa1
|
UTSW |
19 |
5,709,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5480:Sipa1
|
UTSW |
19 |
5,709,658 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5582:Sipa1
|
UTSW |
19 |
5,704,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6005:Sipa1
|
UTSW |
19 |
5,706,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6329:Sipa1
|
UTSW |
19 |
5,701,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6712:Sipa1
|
UTSW |
19 |
5,710,847 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7209:Sipa1
|
UTSW |
19 |
5,705,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7213:Sipa1
|
UTSW |
19 |
5,710,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7665:Sipa1
|
UTSW |
19 |
5,701,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7881:Sipa1
|
UTSW |
19 |
5,701,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Sipa1
|
UTSW |
19 |
5,702,690 (GRCm39) |
missense |
probably benign |
|
|
R8116:Sipa1
|
UTSW |
19 |
5,702,140 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8309:Sipa1
|
UTSW |
19 |
5,704,964 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8708:Sipa1
|
UTSW |
19 |
5,710,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8709:Sipa1
|
UTSW |
19 |
5,710,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9445:Sipa1
|
UTSW |
19 |
5,704,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0057:Sipa1
|
UTSW |
19 |
5,704,948 (GRCm39) |
nonsense |
probably null |
|
|
X0064:Sipa1
|
UTSW |
19 |
5,702,764 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGACACTCCTGACTGATAATG -3'
(R):5'- TGACCTGCAGTTATGTCGGAAG -3'
Sequencing Primer
(F):5'- GATAATGAACCCAACCCTGTCTTCTG -3'
(R):5'- CAGTTATGTCGGAAGCTGGCAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation