Incidental Mutation 'R5582:Sipa1'
| ID |
438536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sipa1
|
| Ensembl Gene |
ENSMUSG00000056917 |
| Gene Name |
signal-induced proliferation associated gene 1 |
| Synonyms |
SPA-1 |
| MMRRC Submission |
043136-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5582 (G1)
|
| Quality Score |
95 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5701213-5713735 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5704729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 622
(G622D)
|
| 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 benign
Transcript: ENSMUST00000071857
AA Change: G622D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917
AA Change: G622D
| 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: G622D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917
AA Change: G622D
| 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: ENSMUST00000164304
AA Change: G622D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917
AA Change: G622D
| 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: G622D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917
AA Change: G622D
| 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 |
0.2473 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (61/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,586,639 (GRCm39) |
|
probably null |
Het |
| Agxt2 |
A |
G |
15: 10,399,245 (GRCm39) |
D444G |
probably damaging |
Het |
| Aldh1b1 |
G |
T |
4: 45,802,750 (GRCm39) |
R96L |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,954 (GRCm39) |
|
probably benign |
Het |
| Apob |
A |
G |
12: 8,060,788 (GRCm39) |
Y3090C |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,043,719 (GRCm39) |
S647P |
probably damaging |
Het |
| Brinp2 |
T |
C |
1: 158,076,979 (GRCm39) |
Y372C |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,965,573 (GRCm39) |
|
probably null |
Het |
| Cdk5rap1 |
T |
A |
2: 154,187,894 (GRCm39) |
E477D |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,946,677 (GRCm39) |
|
probably benign |
Het |
| Chdh |
A |
G |
14: 29,758,816 (GRCm39) |
Y587C |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 111,015,901 (GRCm39) |
V472A |
probably damaging |
Het |
| Clasrp |
A |
C |
7: 19,320,781 (GRCm39) |
I326S |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,296,342 (GRCm39) |
Q334L |
possibly damaging |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,319 (GRCm39) |
|
probably null |
Het |
| Entpd7 |
T |
C |
19: 43,693,433 (GRCm39) |
I171T |
probably damaging |
Het |
| Fosl1 |
T |
C |
19: 5,505,295 (GRCm39) |
|
probably benign |
Het |
| Gm6124 |
A |
G |
7: 38,869,622 (GRCm39) |
|
noncoding transcript |
Het |
| H3f3a |
A |
T |
1: 180,637,650 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
AGAGGAGGAGGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGGAGGAGGAGG |
12: 8,374,048 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
CCAGGGC |
CC |
7: 79,748,087 (GRCm39) |
|
probably null |
Het |
| Igkv3-7 |
A |
G |
6: 70,584,990 (GRCm39) |
Y110C |
probably damaging |
Het |
| Ints9 |
C |
T |
14: 65,266,345 (GRCm39) |
T399M |
possibly damaging |
Het |
| Kctd19 |
G |
A |
8: 106,135,075 (GRCm39) |
T62M |
probably damaging |
Het |
| Lsmem1 |
A |
G |
12: 40,230,643 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,990,802 (GRCm39) |
|
probably null |
Het |
| Or11h23 |
T |
C |
14: 50,948,425 (GRCm39) |
Y213H |
probably damaging |
Het |
| Or1j12 |
T |
C |
2: 36,343,233 (GRCm39) |
I212T |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,230,165 (GRCm39) |
M14K |
unknown |
Het |
| Pibf1 |
C |
T |
14: 99,374,566 (GRCm39) |
A335V |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,767,522 (GRCm39) |
L1256* |
probably null |
Het |
| Plbd2 |
T |
C |
5: 120,631,171 (GRCm39) |
E202G |
probably benign |
Het |
| Ppp1r37 |
A |
G |
7: 19,266,219 (GRCm39) |
S516P |
probably damaging |
Het |
| Ppt2 |
G |
A |
17: 34,836,373 (GRCm39) |
T229M |
probably damaging |
Het |
| Prr14 |
A |
T |
7: 127,075,569 (GRCm39) |
I526F |
probably damaging |
Het |
| Scel |
T |
C |
14: 103,820,575 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,395,373 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
T |
A |
9: 79,997,158 (GRCm39) |
D57E |
possibly damaging |
Het |
| Setd5 |
T |
C |
6: 113,091,886 (GRCm39) |
Y217H |
probably damaging |
Het |
| Sgcg |
T |
C |
14: 61,462,754 (GRCm39) |
T198A |
probably damaging |
Het |
| Slc27a2 |
C |
T |
2: 126,406,610 (GRCm39) |
A98V |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,957,737 (GRCm39) |
P345Q |
probably benign |
Het |
| Slx4 |
T |
C |
16: 3,803,652 (GRCm39) |
D1054G |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,210,083 (GRCm39) |
T898S |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,565,284 (GRCm39) |
P1209S |
probably damaging |
Het |
| Tmem63b |
C |
A |
17: 45,978,689 (GRCm39) |
V294L |
probably benign |
Het |
| Tnks |
G |
A |
8: 35,408,015 (GRCm39) |
R238C |
probably benign |
Het |
| Tsn |
G |
A |
1: 118,232,944 (GRCm39) |
T120I |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,731,814 (GRCm39) |
F479I |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,745,888 (GRCm39) |
M849V |
probably benign |
Het |
| Usp13 |
T |
C |
3: 32,965,738 (GRCm39) |
S574P |
probably damaging |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,435 (GRCm39) |
Y20H |
probably damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,204,972 (GRCm39) |
|
probably benign |
Het |
| Zfp780b |
T |
A |
7: 27,664,252 (GRCm39) |
N101I |
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 |
|
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'- CGGAGTTTCCAATAGGCTCC -3'
(R):5'- ACCACTACTTCGCTGGACTC -3'
Sequencing Primer
(F):5'- GGGACCTTAGTTTTTGACACTGCC -3'
(R):5'- TTGGCCTGCCATCTCTGGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation