Incidental Mutation 'IGL02274:Scai'
| ID |
287294 |
| 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 # |
IGL02274
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
38956226-39080746 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 38992329 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 |
noncoding transcript
Transcript: ENSMUST00000131225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203872
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10 |
A |
G |
8: 14,997,205 (GRCm39) |
D48G |
probably damaging |
Het |
| Asnsd1 |
T |
C |
1: 53,386,734 (GRCm39) |
I298V |
probably benign |
Het |
| Cacna2d3 |
G |
T |
14: 28,678,827 (GRCm39) |
|
probably null |
Het |
| Cbs |
T |
C |
17: 31,844,922 (GRCm39) |
|
probably null |
Het |
| Ccm2 |
C |
A |
11: 6,540,808 (GRCm39) |
T216K |
probably damaging |
Het |
| Galc |
C |
T |
12: 98,220,473 (GRCm39) |
W131* |
probably null |
Het |
| Gemin5 |
T |
C |
11: 58,047,621 (GRCm39) |
R318G |
possibly damaging |
Het |
| Gsta3 |
T |
G |
1: 21,320,012 (GRCm39) |
V6G |
possibly damaging |
Het |
| Hdlbp |
A |
T |
1: 93,336,229 (GRCm39) |
|
probably null |
Het |
| Igkv13-55-1 |
T |
G |
6: 69,577,132 (GRCm39) |
|
noncoding transcript |
Het |
| Il17rd |
A |
G |
14: 26,821,867 (GRCm39) |
Y387C |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,369,742 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
C |
T |
5: 23,705,758 (GRCm39) |
T1344I |
probably benign |
Het |
| L3mbtl4 |
A |
C |
17: 69,071,579 (GRCm39) |
H502P |
probably benign |
Het |
| Lrig1 |
A |
T |
6: 94,640,919 (GRCm39) |
N95K |
possibly damaging |
Het |
| Neurl2 |
G |
T |
2: 164,675,012 (GRCm39) |
R117S |
probably damaging |
Het |
| Nos1 |
G |
A |
5: 118,035,845 (GRCm39) |
A449T |
probably damaging |
Het |
| Noxa1 |
A |
T |
2: 24,975,767 (GRCm39) |
V435E |
probably benign |
Het |
| Parp9 |
C |
T |
16: 35,768,317 (GRCm39) |
R166W |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,445,735 (GRCm39) |
I158T |
probably damaging |
Het |
| Pip5k1c |
T |
C |
10: 81,142,218 (GRCm39) |
Y143H |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,276,285 (GRCm39) |
V35A |
probably damaging |
Het |
| Rab3gap1 |
T |
G |
1: 127,866,817 (GRCm39) |
S881A |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Skic2 |
T |
A |
17: 35,064,839 (GRCm39) |
I418F |
probably damaging |
Het |
| Tenm4 |
A |
C |
7: 96,503,941 (GRCm39) |
H1300P |
probably damaging |
Het |
| Tmppe |
A |
G |
9: 114,234,499 (GRCm39) |
H266R |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,232,896 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
A |
G |
2: 67,338,995 (GRCm39) |
E412G |
probably benign |
Het |
| Zan |
A |
G |
5: 137,419,429 (GRCm39) |
V2910A |
unknown |
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 |
|
IGL01739:Scai
|
APN |
2 |
38,984,803 (GRCm39) |
splice site |
probably benign |
|
|
IGL02251:Scai
|
APN |
2 |
38,989,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2015-04-16 |
Incidental Mutation