Incidental Mutation 'IGL00434:Scai'
| ID |
7218 |
| 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 # |
IGL00434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
38956226-39080746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 38998406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 174
(L174F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038874]
[ENSMUST00000147433]
[ENSMUST00000204093]
[ENSMUST00000204404]
|
| AlphaFold |
Q8C8N2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038874
AA Change: L174F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037194
Gene: ENSMUSG00000035236
AA Change: L174F
| 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 damaging
Transcript: ENSMUST00000204093
AA Change: L174F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145133
Gene: ENSMUSG00000035236
AA Change: L174F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3550
|
64 |
480 |
2.5e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204404
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,269,181 (GRCm39) |
V1098A |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,041,448 (GRCm39) |
F2609L |
probably damaging |
Het |
| Ccdc126 |
C |
T |
6: 49,311,239 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
C |
2: 132,135,271 (GRCm39) |
L54P |
probably damaging |
Het |
| Cdsn |
A |
T |
17: 35,865,740 (GRCm39) |
S90C |
unknown |
Het |
| Clcn6 |
G |
T |
4: 148,098,195 (GRCm39) |
D581E |
probably damaging |
Het |
| Clec4f |
T |
A |
6: 83,630,198 (GRCm39) |
H120L |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,560,614 (GRCm39) |
T1838A |
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,878,524 (GRCm39) |
D211G |
possibly damaging |
Het |
| Cpne8 |
T |
C |
15: 90,381,261 (GRCm39) |
|
probably benign |
Het |
| Dgkk |
T |
A |
X: 6,772,697 (GRCm39) |
M462K |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,091,759 (GRCm39) |
H834Q |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,353,504 (GRCm39) |
Y578H |
possibly damaging |
Het |
| Fnip2 |
C |
A |
3: 79,419,796 (GRCm39) |
|
probably benign |
Het |
| Fut1 |
T |
G |
7: 45,268,855 (GRCm39) |
C270G |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,884,707 (GRCm39) |
V170D |
probably damaging |
Het |
| Gys1 |
T |
A |
7: 45,094,256 (GRCm39) |
M364K |
possibly damaging |
Het |
| Ighv1-85 |
A |
C |
12: 115,963,654 (GRCm39) |
C115W |
probably damaging |
Het |
| Igkv4-74 |
T |
G |
6: 69,162,044 (GRCm39) |
T42P |
probably damaging |
Het |
| Jmjd4 |
A |
G |
11: 59,341,321 (GRCm39) |
Y84C |
probably damaging |
Het |
| Kif11 |
A |
C |
19: 37,399,857 (GRCm39) |
E781D |
possibly damaging |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Klf1 |
C |
T |
8: 85,628,628 (GRCm39) |
P9S |
possibly damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,502,191 (GRCm39) |
|
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,028,230 (GRCm39) |
R309L |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,293,014 (GRCm39) |
E131G |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mgme1 |
T |
A |
2: 144,121,056 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
G |
A |
11: 100,515,808 (GRCm39) |
G45D |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,532,875 (GRCm39) |
D16E |
possibly damaging |
Het |
| Pcyox1l |
T |
C |
18: 61,830,613 (GRCm39) |
T420A |
probably benign |
Het |
| Pira13 |
C |
A |
7: 3,826,088 (GRCm39) |
G302C |
probably damaging |
Het |
| Pm20d1 |
A |
G |
1: 131,741,738 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,503 (GRCm39) |
D89G |
probably damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,012,776 (GRCm39) |
R302H |
probably benign |
Het |
| Riok3 |
T |
C |
18: 12,281,904 (GRCm39) |
V291A |
probably damaging |
Het |
| Rragd |
A |
G |
4: 33,007,219 (GRCm39) |
|
probably benign |
Het |
| Slc25a44 |
T |
C |
3: 88,323,369 (GRCm39) |
I227V |
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,938,548 (GRCm39) |
L160P |
probably damaging |
Het |
| Slc38a1 |
A |
G |
15: 96,483,504 (GRCm39) |
Y275H |
possibly damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,916,375 (GRCm39) |
|
noncoding transcript |
Het |
| Spag8 |
G |
T |
4: 43,652,890 (GRCm39) |
C190* |
probably null |
Het |
| Tbr1 |
T |
C |
2: 61,635,625 (GRCm39) |
F192L |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,850,886 (GRCm39) |
E118K |
probably damaging |
Het |
| Tti1 |
T |
A |
2: 157,850,885 (GRCm39) |
E118V |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,852,821 (GRCm39) |
P713Q |
probably damaging |
Het |
| Vcf2 |
A |
T |
X: 149,181,395 (GRCm39) |
V132E |
possibly damaging |
Het |
| Wt1 |
G |
T |
2: 104,974,486 (GRCm39) |
|
probably null |
Het |
| Xylt1 |
T |
A |
7: 117,249,912 (GRCm39) |
I694N |
probably damaging |
Het |
| Zfp516 |
T |
A |
18: 82,975,233 (GRCm39) |
M477K |
probably benign |
Het |
|
| Other mutations in Scai |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation