Incidental Mutation 'R3924:Sipa1'
| ID |
307111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sipa1
|
| Ensembl Gene |
ENSMUSG00000056917 |
| Gene Name |
signal-induced proliferation associated gene 1 |
| Synonyms |
SPA-1 |
| MMRRC Submission |
040915-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3924 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5701213-5713735 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5710407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 201
(T201I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132345
(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 benign
Transcript: ENSMUST00000071857
AA Change: T201I
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917
AA Change: T201I
| 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: T201I
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917
AA Change: T201I
| 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 |
noncoding transcript
Transcript: ENSMUST00000124905
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146638
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164304
AA Change: T201I
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917
AA Change: T201I
| 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: T201I
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917
AA Change: T201I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (39/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
G |
T |
9: 53,343,705 (GRCm39) |
V119F |
probably benign |
Het |
| Agtpbp1 |
A |
T |
13: 59,648,221 (GRCm39) |
V533D |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
| Aldh3b3 |
A |
G |
19: 4,018,491 (GRCm39) |
N402S |
probably damaging |
Het |
| Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
| Arpin |
A |
G |
7: 79,579,435 (GRCm39) |
Y63H |
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,073,778 (GRCm39) |
L781P |
probably damaging |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
| Csad |
T |
C |
15: 102,086,991 (GRCm39) |
S427G |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,153,339 (GRCm39) |
V443A |
probably damaging |
Het |
| Dlat |
A |
G |
9: 50,569,490 (GRCm39) |
S160P |
possibly damaging |
Het |
| Dpf1 |
A |
G |
7: 29,011,098 (GRCm39) |
R165G |
possibly damaging |
Het |
| Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
| Fa2h |
A |
G |
8: 112,120,147 (GRCm39) |
Y80H |
probably damaging |
Het |
| Flii |
A |
G |
11: 60,610,902 (GRCm39) |
F509S |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,492,221 (GRCm39) |
S350P |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,799,596 (GRCm39) |
|
probably benign |
Het |
| Gm3604 |
A |
G |
13: 62,518,044 (GRCm39) |
S105P |
probably damaging |
Het |
| Gpr155 |
T |
A |
2: 73,200,420 (GRCm39) |
L362F |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,149,624 (GRCm39) |
V86A |
probably benign |
Het |
| Lpcat4 |
G |
T |
2: 112,077,061 (GRCm39) |
Q468H |
possibly damaging |
Het |
| Luzp1 |
T |
C |
4: 136,270,168 (GRCm39) |
I797T |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,187,963 (GRCm39) |
I912F |
probably damaging |
Het |
| Notch2 |
G |
T |
3: 98,029,350 (GRCm39) |
G1038* |
probably null |
Het |
| Nptx1 |
G |
T |
11: 119,438,333 (GRCm39) |
T28N |
possibly damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or9i2 |
T |
C |
19: 13,816,130 (GRCm39) |
T136A |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,516,105 (GRCm39) |
N317S |
possibly damaging |
Het |
| Polr1a |
A |
G |
6: 71,906,434 (GRCm39) |
M417V |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,698,607 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
| Rasd2 |
A |
G |
8: 75,948,602 (GRCm39) |
N176S |
probably damaging |
Het |
| Rsbn1l |
A |
G |
5: 21,124,785 (GRCm39) |
V339A |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,859,048 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,041,827 (GRCm39) |
W676R |
probably benign |
Het |
| Slc35g2 |
A |
T |
9: 100,434,780 (GRCm39) |
I297N |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
| Zfp946 |
G |
T |
17: 22,674,682 (GRCm39) |
G479C |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGTTGAGCCAACAGAGC -3'
(R):5'- AAACTCTGGGACCTTAGCTGAG -3'
Sequencing Primer
(F):5'- GTTGAGCCAACAGAGCCCAATTC -3'
(R):5'- TTAGCTGAGGGCCAGACTAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation