Incidental Mutation 'R5480:Sipa1'
| ID |
434290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sipa1
|
| Ensembl Gene |
ENSMUSG00000056917 |
| Gene Name |
signal-induced proliferation associated gene 1 |
| Synonyms |
SPA-1 |
| MMRRC Submission |
043041-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5480 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5701213-5713735 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5709658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 254
(L254P)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000071857
AA Change: L254P
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917
AA Change: L254P
| 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 |
possibly damaging
Transcript: ENSMUST00000080824
AA Change: L254P
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917
AA Change: L254P
| 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 |
possibly damaging
Transcript: ENSMUST00000164304
AA Change: L254P
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917
AA Change: L254P
| 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 |
possibly damaging
Transcript: ENSMUST00000169854
AA Change: L254P
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917
AA Change: L254P
| 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 |
0.0814 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.7%
|
| Validation Efficiency |
97% (56/58) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh7 |
A |
G |
17: 57,306,131 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,482,979 (GRCm39) |
L343S |
probably damaging |
Het |
| Btbd10 |
T |
A |
7: 112,915,914 (GRCm39) |
R392W |
probably damaging |
Het |
| Camkv |
A |
G |
9: 107,824,074 (GRCm39) |
D216G |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,836,460 (GRCm39) |
D525G |
probably damaging |
Het |
| Dqx1 |
A |
T |
6: 83,041,784 (GRCm39) |
D542V |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,662,441 (GRCm39) |
T539A |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,267,939 (GRCm39) |
E278G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,200,912 (GRCm39) |
S721P |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,857,424 (GRCm39) |
C2257* |
probably null |
Het |
| Frem2 |
A |
T |
3: 53,563,928 (GRCm39) |
L193* |
probably null |
Het |
| Gfy |
C |
A |
7: 44,826,657 (GRCm39) |
V394F |
probably benign |
Het |
| Gipr |
A |
G |
7: 18,894,579 (GRCm39) |
L241P |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,552,100 (GRCm39) |
S445P |
probably damaging |
Het |
| Ift140 |
G |
T |
17: 25,239,550 (GRCm39) |
W69L |
probably damaging |
Het |
| Kat6a |
T |
A |
8: 23,428,323 (GRCm39) |
M1226K |
possibly damaging |
Het |
| Klk12 |
T |
G |
7: 43,420,482 (GRCm39) |
H140Q |
probably benign |
Het |
| Map3k14 |
A |
G |
11: 103,130,330 (GRCm39) |
F196L |
probably benign |
Het |
| Mblac2 |
T |
A |
13: 81,898,395 (GRCm39) |
V257E |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,138,935 (GRCm39) |
E188G |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,027,724 (GRCm39) |
N250S |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,648,811 (GRCm39) |
D209G |
probably damaging |
Het |
| Pigs |
T |
G |
11: 78,219,901 (GRCm39) |
I92S |
possibly damaging |
Het |
| Pigz |
G |
T |
16: 31,763,439 (GRCm39) |
G166C |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,757,388 (GRCm39) |
R1550L |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,180,595 (GRCm39) |
V40A |
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,301,616 (GRCm39) |
M1470K |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,833,652 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,098,311 (GRCm39) |
T1272A |
possibly damaging |
Het |
| Rfwd3 |
A |
T |
8: 112,000,464 (GRCm39) |
D720E |
probably damaging |
Het |
| Rgs12 |
C |
G |
5: 35,123,455 (GRCm39) |
Q413E |
probably benign |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,563 (GRCm39) |
V376D |
possibly damaging |
Het |
| Rrp8 |
C |
T |
7: 105,383,336 (GRCm39) |
S310N |
probably damaging |
Het |
| S100a3 |
C |
T |
3: 90,509,591 (GRCm39) |
L79F |
probably damaging |
Het |
| Setbp1 |
C |
A |
18: 78,901,278 (GRCm39) |
M796I |
probably damaging |
Het |
| Slc4a7 |
C |
G |
14: 14,782,138 (GRCm38) |
H964Q |
probably damaging |
Het |
| Strc |
G |
T |
2: 121,195,300 (GRCm39) |
P1661Q |
probably benign |
Het |
| Taf5l |
A |
T |
8: 124,736,559 (GRCm39) |
V4E |
possibly damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,069,123 (GRCm39) |
E82G |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,739,682 (GRCm39) |
S858P |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,310,557 (GRCm39) |
V157A |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,208,463 (GRCm39) |
T419A |
probably benign |
Het |
| Vmn2r60 |
G |
T |
7: 41,785,154 (GRCm39) |
W122L |
probably damaging |
Het |
| Vwa3b |
C |
A |
1: 37,139,787 (GRCm39) |
Y369* |
probably null |
Het |
| Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
possibly 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 |
|
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 |
|
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'- AAGCTTCCTCGGAGATAGGC -3'
(R):5'- GAATACCTAGGGTGGTACTTCTGTG -3'
Sequencing Primer
(F):5'- TTCCTCGGAGATAGGCCCCTC -3'
(R):5'- TGTGGTGGGCGTAGTCAAGAAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation