Incidental Mutation 'IGL01739:Scai'
| ID |
105825 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scai
|
| Ensembl Gene |
ENSMUSG00000035236 |
| Gene Name |
suppressor of cancer cell invasion |
| Synonyms |
A930041I02Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.533)
|
| Stock # |
IGL01739
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
38956226-39080746 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 38984803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038874]
[ENSMUST00000147433]
[ENSMUST00000204093]
[ENSMUST00000204404]
[ENSMUST00000204500]
|
| AlphaFold |
Q8C8N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038874
|
| SMART Domains |
Protein: ENSMUSP00000037194
Gene: ENSMUSG00000035236
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3550
|
64 |
557 |
6.1e-216 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147433
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204093
|
| SMART Domains |
Protein: ENSMUSP00000145133
Gene: ENSMUSG00000035236
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3550
|
64 |
480 |
2.5e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204404
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204500
|
| SMART Domains |
Protein: ENSMUSP00000144844
Gene: ENSMUSG00000035236
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3550
|
1 |
77 |
3.2e-23 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mice of both sexes are sub-fertile owing to compromised meiotic synapsis and homologous recombination-mediated double-strand break DNA repair. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
G |
T |
7: 43,906,210 (GRCm39) |
Y88* |
probably null |
Het |
| Aftph |
T |
C |
11: 20,676,994 (GRCm39) |
D205G |
probably damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,423,793 (GRCm39) |
I758V |
probably benign |
Het |
| Atg9b |
A |
G |
5: 24,591,513 (GRCm39) |
|
probably null |
Het |
| Auts2 |
T |
C |
5: 131,469,056 (GRCm39) |
T754A |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,966,216 (GRCm39) |
M4048V |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,024,870 (GRCm39) |
|
probably null |
Het |
| Cmpk1 |
C |
T |
4: 114,822,121 (GRCm39) |
A143T |
probably benign |
Het |
| Cstf2t |
C |
A |
19: 31,060,536 (GRCm39) |
P24Q |
probably damaging |
Het |
| Cwc22 |
A |
G |
2: 77,757,640 (GRCm39) |
S163P |
probably damaging |
Het |
| Dnaaf11 |
T |
A |
15: 66,321,326 (GRCm39) |
M272L |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,534,278 (GRCm39) |
|
probably benign |
Het |
| Focad |
T |
A |
4: 88,289,043 (GRCm39) |
I1279N |
unknown |
Het |
| Gp5 |
T |
C |
16: 30,127,459 (GRCm39) |
D405G |
possibly damaging |
Het |
| Guf1 |
C |
A |
5: 69,718,501 (GRCm39) |
N213K |
probably damaging |
Het |
| Hacd4 |
T |
C |
4: 88,341,285 (GRCm39) |
T145A |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,681,399 (GRCm39) |
M1005T |
probably benign |
Het |
| Mast4 |
T |
A |
13: 102,910,781 (GRCm39) |
T621S |
probably damaging |
Het |
| Mme |
T |
C |
3: 63,247,534 (GRCm39) |
M273T |
possibly damaging |
Het |
| Mos |
A |
G |
4: 3,871,816 (GRCm39) |
|
probably benign |
Het |
| Msln |
C |
T |
17: 25,969,004 (GRCm39) |
|
probably null |
Het |
| Mtg1 |
A |
T |
7: 139,730,149 (GRCm39) |
Q315L |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,105,354 (GRCm39) |
E1048G |
probably damaging |
Het |
| Ndufa9 |
C |
T |
6: 126,821,777 (GRCm39) |
G66D |
probably damaging |
Het |
| Nr1i2 |
T |
C |
16: 38,086,333 (GRCm39) |
K44R |
probably benign |
Het |
| Nup155 |
T |
A |
15: 8,165,272 (GRCm39) |
M636K |
probably benign |
Het |
| Or12d12 |
A |
T |
17: 37,610,673 (GRCm39) |
F213L |
probably benign |
Het |
| Or5b96 |
T |
A |
19: 12,867,513 (GRCm39) |
T143S |
probably benign |
Het |
| Pde4b |
A |
T |
4: 102,458,832 (GRCm39) |
Q496L |
probably damaging |
Het |
| Plekha6 |
T |
C |
1: 133,187,869 (GRCm39) |
V130A |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,569,834 (GRCm39) |
N139S |
probably benign |
Het |
| Rbpj-ps3 |
T |
C |
6: 46,507,694 (GRCm39) |
T19A |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,947,733 (GRCm39) |
T617A |
probably benign |
Het |
| Slc15a2 |
T |
C |
16: 36,576,592 (GRCm39) |
M481V |
probably benign |
Het |
| Snx5 |
A |
G |
2: 144,112,325 (GRCm39) |
L8P |
probably benign |
Het |
| Spg11 |
C |
T |
2: 121,945,152 (GRCm39) |
A123T |
probably damaging |
Het |
| Supt6 |
T |
A |
11: 78,113,013 (GRCm39) |
I977F |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,114,490 (GRCm39) |
D442G |
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,068,200 (GRCm39) |
N275K |
probably benign |
Het |
| Vmn2r50 |
A |
G |
7: 9,771,364 (GRCm39) |
F779S |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,345,482 (GRCm39) |
R2574S |
probably benign |
Het |
| Zbp1 |
T |
C |
2: 173,054,038 (GRCm39) |
E161G |
possibly damaging |
Het |
|
| Other mutations in Scai |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Scai
|
APN |
2 |
38,998,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01366:Scai
|
APN |
2 |
38,996,973 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02251:Scai
|
APN |
2 |
38,989,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02274:Scai
|
APN |
2 |
38,992,329 (GRCm39) |
unclassified |
probably benign |
|
|
R0239:Scai
|
UTSW |
2 |
38,965,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0239:Scai
|
UTSW |
2 |
38,965,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0685:Scai
|
UTSW |
2 |
38,993,749 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0904:Scai
|
UTSW |
2 |
38,965,164 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1655:Scai
|
UTSW |
2 |
38,970,129 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1820:Scai
|
UTSW |
2 |
38,996,990 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1913:Scai
|
UTSW |
2 |
38,970,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Scai
|
UTSW |
2 |
39,013,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2183:Scai
|
UTSW |
2 |
38,970,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3237:Scai
|
UTSW |
2 |
39,040,326 (GRCm39) |
splice site |
probably benign |
|
|
R3933:Scai
|
UTSW |
2 |
38,965,064 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5460:Scai
|
UTSW |
2 |
38,973,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5460:Scai
|
UTSW |
2 |
38,973,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6089:Scai
|
UTSW |
2 |
38,973,566 (GRCm39) |
nonsense |
probably null |
|
|
R6377:Scai
|
UTSW |
2 |
38,992,340 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6606:Scai
|
UTSW |
2 |
38,965,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7034:Scai
|
UTSW |
2 |
39,011,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7037:Scai
|
UTSW |
2 |
39,080,633 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7171:Scai
|
UTSW |
2 |
38,996,948 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7451:Scai
|
UTSW |
2 |
39,015,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7737:Scai
|
UTSW |
2 |
39,013,034 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8856:Scai
|
UTSW |
2 |
38,996,978 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8890:Scai
|
UTSW |
2 |
39,040,400 (GRCm39) |
intron |
probably benign |
|
|
R9040:Scai
|
UTSW |
2 |
38,965,164 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Posted On |
2014-01-21 |
Incidental Mutation