Incidental Mutation 'R8709:Sipa1'
| ID |
669470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sipa1
|
| Ensembl Gene |
ENSMUSG00000056917 |
| Gene Name |
signal-induced proliferation associated gene 1 |
| Synonyms |
SPA-1 |
| MMRRC Submission |
068563-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8709 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5701213-5713735 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5710980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 10
(R10Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073618
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068169]
[ENSMUST00000071857]
[ENSMUST00000080824]
[ENSMUST00000113615]
[ENSMUST00000164304]
[ENSMUST00000169854]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068169
|
| SMART Domains |
Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
53 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
376 |
N/A |
INTRINSIC |
|
transmembrane domain
|
385 |
407 |
N/A |
INTRINSIC |
|
transmembrane domain
|
411 |
428 |
N/A |
INTRINSIC |
|
transmembrane domain
|
441 |
463 |
N/A |
INTRINSIC |
|
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
|
transmembrane domain
|
501 |
523 |
N/A |
INTRINSIC |
|
transmembrane domain
|
538 |
560 |
N/A |
INTRINSIC |
|
transmembrane domain
|
573 |
592 |
N/A |
INTRINSIC |
|
transmembrane domain
|
645 |
667 |
N/A |
INTRINSIC |
|
transmembrane domain
|
669 |
691 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
|
Pfam:Pecanex_C
|
1159 |
1389 |
7.5e-124 |
PFAM |
|
low complexity region
|
1462 |
1479 |
N/A |
INTRINSIC |
|
low complexity region
|
1481 |
1510 |
N/A |
INTRINSIC |
|
low complexity region
|
1525 |
1538 |
N/A |
INTRINSIC |
|
low complexity region
|
1558 |
1569 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071857
AA Change: R10Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917
AA Change: R10Q
| 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: R10Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917
AA Change: R10Q
| 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: ENSMUST00000113615
|
| SMART Domains |
Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
53 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
784 |
N/A |
INTRINSIC |
|
transmembrane domain
|
793 |
815 |
N/A |
INTRINSIC |
|
transmembrane domain
|
819 |
836 |
N/A |
INTRINSIC |
|
transmembrane domain
|
849 |
871 |
N/A |
INTRINSIC |
|
transmembrane domain
|
881 |
900 |
N/A |
INTRINSIC |
|
transmembrane domain
|
909 |
931 |
N/A |
INTRINSIC |
|
transmembrane domain
|
946 |
968 |
N/A |
INTRINSIC |
|
transmembrane domain
|
981 |
1000 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1053 |
1075 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1077 |
1099 |
N/A |
INTRINSIC |
|
low complexity region
|
1419 |
1433 |
N/A |
INTRINSIC |
|
Pfam:Pecanex_C
|
1570 |
1796 |
5.9e-116 |
PFAM |
|
low complexity region
|
1870 |
1887 |
N/A |
INTRINSIC |
|
low complexity region
|
1889 |
1918 |
N/A |
INTRINSIC |
|
low complexity region
|
1933 |
1946 |
N/A |
INTRINSIC |
|
low complexity region
|
1966 |
1977 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133136
|
| SMART Domains |
Protein: ENSMUSP00000123666
Gene: ENSMUSG00000054874
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pecanex_C
|
1 |
129 |
7.9e-61 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164304
AA Change: R10Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917
AA Change: R10Q
| 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: R10Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917
AA Change: R10Q
| 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 |
0.1548 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
96% (55/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
G |
4: 124,504,316 (GRCm39) |
S79P |
unknown |
Het |
| Aadacl4fm2 |
C |
G |
4: 144,281,863 (GRCm39) |
A310P |
probably damaging |
Het |
| Adamts20 |
T |
A |
15: 94,238,947 (GRCm39) |
D757V |
probably damaging |
Het |
| Adamts9 |
C |
T |
6: 92,784,144 (GRCm39) |
G1570D |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,077,642 (GRCm39) |
Y109C |
possibly damaging |
Het |
| Agl |
G |
A |
3: 116,566,121 (GRCm39) |
R335C |
|
Het |
| Ankfy1 |
C |
A |
11: 72,646,532 (GRCm39) |
T805K |
possibly damaging |
Het |
| Cast |
A |
T |
13: 74,892,780 (GRCm39) |
V96E |
probably damaging |
Het |
| Cdh17 |
G |
T |
4: 11,795,685 (GRCm39) |
E422* |
probably null |
Het |
| Cox4i1 |
T |
A |
8: 121,396,110 (GRCm39) |
L21H |
possibly damaging |
Het |
| Cwc22 |
T |
C |
2: 77,726,694 (GRCm39) |
E795G |
probably benign |
Het |
| Cwf19l2 |
C |
A |
9: 3,430,723 (GRCm39) |
Q352K |
probably benign |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,276 (GRCm39) |
V226A |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,414,757 (GRCm39) |
I53V |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,674,476 (GRCm39) |
I434V |
probably benign |
Het |
| Dock8 |
C |
T |
19: 25,055,448 (GRCm39) |
Q137* |
probably null |
Het |
| Eif4b |
T |
G |
15: 102,002,116 (GRCm39) |
V515G |
unknown |
Het |
| Far2 |
T |
A |
6: 148,067,133 (GRCm39) |
N339K |
probably benign |
Het |
| Gpr22 |
T |
C |
12: 31,759,829 (GRCm39) |
T98A |
probably damaging |
Het |
| Hamp2 |
A |
G |
7: 30,621,974 (GRCm39) |
C72R |
probably damaging |
Het |
| Hmgn1 |
G |
A |
16: 95,928,540 (GRCm39) |
P16S |
possibly damaging |
Het |
| Hspd1 |
A |
G |
1: 55,120,922 (GRCm39) |
S256P |
probably benign |
Het |
| Iqcn |
T |
C |
8: 71,162,372 (GRCm39) |
C522R |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,796,713 (GRCm39) |
H1147R |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 129,439,887 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
A |
T |
12: 5,140,681 (GRCm39) |
W654R |
probably damaging |
Het |
| Krtap22-2 |
T |
A |
16: 88,807,514 (GRCm39) |
Y28F |
unknown |
Het |
| Lcp2 |
T |
A |
11: 34,004,354 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
T |
G |
7: 141,370,663 (GRCm39) |
L3225R |
possibly damaging |
Het |
| Myom3 |
A |
G |
4: 135,523,607 (GRCm39) |
E908G |
possibly damaging |
Het |
| Nup54 |
A |
G |
5: 92,570,267 (GRCm39) |
|
probably benign |
Het |
| Or1p1 |
T |
A |
11: 74,180,054 (GRCm39) |
I194N |
possibly damaging |
Het |
| Or4a74 |
C |
T |
2: 89,440,366 (GRCm39) |
V27I |
probably benign |
Het |
| Or51af1 |
T |
C |
7: 103,141,519 (GRCm39) |
T189A |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,671 (GRCm39) |
I228N |
probably damaging |
Het |
| Pak4 |
A |
C |
7: 28,261,969 (GRCm39) |
D453E |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,805,567 (GRCm39) |
T2120A |
|
Het |
| Pkhd1l1 |
T |
A |
15: 44,381,570 (GRCm39) |
S1099T |
probably benign |
Het |
| Pld2 |
C |
T |
11: 70,444,275 (GRCm39) |
R524W |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,951,832 (GRCm39) |
D1466E |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Rp1l1 |
A |
C |
14: 64,269,295 (GRCm39) |
D1627A |
probably damaging |
Het |
| Sephs1 |
T |
C |
2: 4,889,402 (GRCm39) |
V60A |
probably benign |
Het |
| Sp4 |
T |
C |
12: 118,263,189 (GRCm39) |
T286A |
possibly damaging |
Het |
| Spag5 |
T |
A |
11: 78,192,738 (GRCm39) |
S23R |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,958,916 (GRCm39) |
N313K |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,772,975 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
T |
A |
2: 26,835,817 (GRCm39) |
H217Q |
probably benign |
Het |
| Stxbp2 |
T |
A |
8: 3,683,914 (GRCm39) |
F104I |
possibly damaging |
Het |
| Tcf12 |
A |
G |
9: 71,765,787 (GRCm39) |
V575A |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,830,069 (GRCm39) |
S131T |
probably benign |
Het |
| Tg |
T |
A |
15: 66,553,786 (GRCm39) |
S400R |
probably benign |
Het |
| Tomm40 |
T |
C |
7: 19,444,703 (GRCm39) |
T200A |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,919,323 (GRCm39) |
E71G |
unknown |
Het |
| Zfp292 |
A |
T |
4: 34,805,982 (GRCm39) |
V2359E |
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 |
|
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 |
|
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'- TCTTCTGCTGGCAACCCTAG -3'
(R):5'- GGAAGCAGCTTTGATGGTCC -3'
Sequencing Primer
(F):5'- AACCCTAGCAGTGCCAGTG -3'
(R):5'- CAGCTTTGATGGTCCCGGAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation