Incidental Mutation 'IGL01837:Sipa1'
ID |
154979 |
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 # |
IGL01837
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
5701213-5713735 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 5702099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 937
(T937K)
|
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 damaging
Transcript: ENSMUST00000071857
AA Change: T937K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000073618 Gene: ENSMUSG00000056917 AA Change: T937K
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: T937K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000079637 Gene: ENSMUSG00000056917 AA Change: T937K
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: T937K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128208 Gene: ENSMUSG00000056917 AA Change: T937K
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: T937K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132345 Gene: ENSMUSG00000056917 AA Change: T937K
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,627,671 (GRCm39) |
F1372L |
probably damaging |
Het |
Alcam |
T |
A |
16: 52,073,531 (GRCm39) |
N339I |
probably benign |
Het |
Ankrd35 |
A |
C |
3: 96,587,982 (GRCm39) |
D141A |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,150,492 (GRCm39) |
I1820V |
probably benign |
Het |
Ccp110 |
T |
A |
7: 118,324,684 (GRCm39) |
|
probably null |
Het |
Copa |
T |
A |
1: 171,946,419 (GRCm39) |
D954E |
probably benign |
Het |
Csmd2 |
A |
T |
4: 128,313,363 (GRCm39) |
I1347F |
possibly damaging |
Het |
Ddx10 |
A |
G |
9: 53,140,498 (GRCm39) |
I301T |
probably benign |
Het |
Defb23 |
T |
A |
2: 152,301,294 (GRCm39) |
M93L |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,970,565 (GRCm39) |
|
probably null |
Het |
Dok3 |
T |
C |
13: 55,671,383 (GRCm39) |
E396G |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,727,055 (GRCm39) |
M1318L |
probably benign |
Het |
Foxm1 |
T |
A |
6: 128,343,167 (GRCm39) |
|
probably benign |
Het |
Gm11992 |
A |
T |
11: 9,011,266 (GRCm39) |
R236W |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,734,452 (GRCm39) |
I1513V |
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,951,759 (GRCm39) |
E25G |
possibly damaging |
Het |
Ighg2b |
C |
T |
12: 113,270,065 (GRCm39) |
E318K |
unknown |
Het |
Itga4 |
T |
C |
2: 79,145,349 (GRCm39) |
S722P |
probably damaging |
Het |
Kirrel3 |
G |
A |
9: 34,946,224 (GRCm39) |
R617H |
probably damaging |
Het |
Mboat1 |
A |
T |
13: 30,425,166 (GRCm39) |
H409L |
possibly damaging |
Het |
Naa15 |
A |
T |
3: 51,351,369 (GRCm39) |
K180* |
probably null |
Het |
Nccrp1 |
A |
G |
7: 28,246,191 (GRCm39) |
S124P |
probably damaging |
Het |
Nphp4 |
T |
C |
4: 152,573,338 (GRCm39) |
I92T |
probably damaging |
Het |
Or13a28 |
G |
A |
7: 140,218,124 (GRCm39) |
C170Y |
probably damaging |
Het |
Or6d14 |
C |
A |
6: 116,533,807 (GRCm39) |
Y140* |
probably null |
Het |
Pkd1l3 |
A |
G |
8: 110,356,798 (GRCm39) |
D741G |
possibly damaging |
Het |
Plcb2 |
C |
T |
2: 118,542,407 (GRCm39) |
|
probably null |
Het |
Pramel19 |
A |
G |
4: 101,798,650 (GRCm39) |
E207G |
probably damaging |
Het |
Prm2 |
G |
A |
16: 10,609,775 (GRCm39) |
|
probably null |
Het |
R3hdm1 |
C |
T |
1: 128,114,497 (GRCm39) |
Q184* |
probably null |
Het |
Rgl1 |
A |
T |
1: 152,424,901 (GRCm39) |
N359K |
probably damaging |
Het |
Rnf44 |
A |
G |
13: 54,829,966 (GRCm39) |
Y366H |
probably damaging |
Het |
Rpap2 |
G |
A |
5: 107,773,835 (GRCm39) |
|
probably null |
Het |
Ryr3 |
T |
C |
2: 112,631,665 (GRCm39) |
N2120S |
probably damaging |
Het |
Samd8 |
A |
G |
14: 21,825,027 (GRCm39) |
|
probably benign |
Het |
Sos1 |
A |
T |
17: 80,730,157 (GRCm39) |
D707E |
probably damaging |
Het |
Tas2r109 |
T |
C |
6: 132,957,477 (GRCm39) |
N151S |
probably benign |
Het |
Try5 |
T |
C |
6: 41,290,358 (GRCm39) |
N42S |
probably benign |
Het |
Ttn |
G |
T |
2: 76,732,338 (GRCm39) |
|
probably benign |
Het |
Utp14b |
A |
G |
1: 78,642,636 (GRCm39) |
E178G |
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 |
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 |
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 |
2014-02-04 |