Incidental Mutation 'IGL02858:Sipa1'
| ID |
362043 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sipa1
|
| Ensembl Gene |
ENSMUSG00000056917 |
| Gene Name |
signal-induced proliferation associated gene 1 |
| Synonyms |
SPA-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02858
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5701213-5713735 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5705736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 411
(T411A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071857]
[ENSMUST00000080824]
[ENSMUST00000164304]
[ENSMUST00000169854]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071857
AA Change: T411A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917
AA Change: T411A
| 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 damaging
Transcript: ENSMUST00000080824
AA Change: T411A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917
AA Change: T411A
| 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 damaging
Transcript: ENSMUST00000164304
AA Change: T411A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917
AA Change: T411A
| 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 damaging
Transcript: ENSMUST00000169854
AA Change: T411A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917
AA Change: T411A
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,596,599 (GRCm39) |
V126A |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,119,130 (GRCm39) |
Y3546H |
possibly damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arhgap45 |
C |
A |
10: 79,853,768 (GRCm39) |
T94N |
probably benign |
Het |
| Arid1b |
T |
C |
17: 5,392,166 (GRCm39) |
S1899P |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 79,980,601 (GRCm39) |
V2E |
probably damaging |
Het |
| Calr |
A |
T |
8: 85,571,528 (GRCm39) |
V155E |
probably benign |
Het |
| Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cetn1 |
T |
C |
18: 9,619,422 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
A |
T |
6: 103,618,949 (GRCm39) |
L6F |
probably damaging |
Het |
| Chrnb1 |
C |
T |
11: 69,675,935 (GRCm39) |
V436I |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,506,204 (GRCm39) |
E292G |
unknown |
Het |
| Ddx56 |
A |
G |
11: 6,217,667 (GRCm39) |
L18P |
probably damaging |
Het |
| Dhx36 |
A |
C |
3: 62,384,797 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,453,358 (GRCm39) |
R4376S |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,185,582 (GRCm39) |
D113V |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,512,118 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
T |
A |
4: 98,833,442 (GRCm39) |
K1920* |
probably null |
Het |
| Dysf |
A |
G |
6: 84,076,471 (GRCm39) |
D628G |
probably benign |
Het |
| Exoc3l2 |
A |
G |
7: 19,229,109 (GRCm39) |
I176V |
probably benign |
Het |
| Fcrl1 |
A |
G |
3: 87,292,012 (GRCm39) |
Y57C |
probably damaging |
Het |
| Fzd4 |
C |
T |
7: 89,057,162 (GRCm39) |
T403M |
probably damaging |
Het |
| Gpr171 |
A |
T |
3: 59,005,288 (GRCm39) |
N162K |
probably benign |
Het |
| Impdh1 |
T |
A |
6: 29,206,924 (GRCm39) |
K132* |
probably null |
Het |
| Itgb2l |
A |
T |
16: 96,223,850 (GRCm39) |
W730R |
possibly damaging |
Het |
| Jmjd8 |
T |
C |
17: 26,049,134 (GRCm39) |
F230S |
probably damaging |
Het |
| Krt72 |
G |
A |
15: 101,690,556 (GRCm39) |
T232M |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,740,540 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
A |
C |
2: 31,900,384 (GRCm39) |
|
probably benign |
Het |
| Or11g7 |
A |
T |
14: 50,690,507 (GRCm39) |
|
probably benign |
Het |
| Or7d10 |
A |
G |
9: 19,831,747 (GRCm39) |
M81V |
probably damaging |
Het |
| Or8c20 |
A |
G |
9: 38,260,469 (GRCm39) |
Q24R |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,095,822 (GRCm39) |
Y113C |
probably damaging |
Het |
| Pdgfra |
T |
A |
5: 75,355,635 (GRCm39) |
S1048R |
probably damaging |
Het |
| Sall3 |
G |
T |
18: 81,012,728 (GRCm39) |
A1236E |
probably damaging |
Het |
| Thsd7a |
T |
G |
6: 12,500,994 (GRCm39) |
D471A |
probably benign |
Het |
| Tm2d1 |
T |
A |
4: 98,263,192 (GRCm39) |
E100D |
probably damaging |
Het |
| Tmcc1 |
A |
G |
6: 116,110,849 (GRCm39) |
V148A |
probably damaging |
Het |
| Tubgcp6 |
A |
T |
15: 88,986,518 (GRCm39) |
Y19* |
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,783,203 (GRCm39) |
Y713C |
probably damaging |
Het |
| Uevld |
A |
G |
7: 46,605,377 (GRCm39) |
V39A |
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,484,003 (GRCm39) |
H732Q |
probably damaging |
Het |
| Zfp629 |
A |
T |
7: 127,209,484 (GRCm39) |
F775Y |
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 |
|
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 |
|
R4525:Sipa1
|
UTSW |
19 |
5,701,985 (GRCm39) |
missense |
probably benign |
0.12 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation