Incidental Mutation 'IGL02251:Scai'
| ID |
286382 |
| 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 # |
IGL02251
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
38956226-39080746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38989429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 401
(D401E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038874]
[ENSMUST00000147433]
[ENSMUST00000204093]
[ENSMUST00000204404]
[ENSMUST00000204500]
|
| AlphaFold |
Q8C8N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038874
AA Change: D401E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000037194
Gene: ENSMUSG00000035236
AA Change: D401E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3550
|
64 |
557 |
6.1e-216 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203872
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204093
AA Change: D401E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000145133
Gene: ENSMUSG00000035236
AA Change: D401E
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,626,840 (GRCm39) |
C1406R |
probably damaging |
Het |
| Acp2 |
T |
A |
2: 91,038,678 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Arhgef11 |
C |
T |
3: 87,590,854 (GRCm39) |
R32C |
probably damaging |
Het |
| Armc6 |
A |
T |
8: 70,677,870 (GRCm39) |
L153* |
probably null |
Het |
| Btnl2 |
G |
T |
17: 34,582,213 (GRCm39) |
G260* |
probably null |
Het |
| Ccnf |
A |
G |
17: 24,445,513 (GRCm39) |
S551P |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,882,382 (GRCm39) |
S37P |
probably benign |
Het |
| Cntnap3 |
T |
A |
13: 64,909,850 (GRCm39) |
T752S |
probably damaging |
Het |
| Crispld1 |
A |
G |
1: 17,799,064 (GRCm39) |
M62V |
probably benign |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Dph6 |
A |
G |
2: 114,366,004 (GRCm39) |
|
probably null |
Het |
| Dpp3 |
T |
G |
19: 4,968,343 (GRCm39) |
H243P |
probably benign |
Het |
| Eif3j2 |
T |
A |
18: 43,610,431 (GRCm39) |
K127N |
probably damaging |
Het |
| Esrp1 |
G |
A |
4: 11,361,202 (GRCm39) |
R315C |
probably damaging |
Het |
| Gm973 |
A |
C |
1: 59,621,582 (GRCm39) |
H574P |
probably benign |
Het |
| Gprasp1 |
G |
A |
X: 134,701,288 (GRCm39) |
V494I |
probably benign |
Het |
| Hbb-bh1 |
T |
A |
7: 103,492,017 (GRCm39) |
K66* |
probably null |
Het |
| Hoxb9 |
T |
A |
11: 96,165,651 (GRCm39) |
M240K |
probably damaging |
Het |
| Irf2 |
T |
C |
8: 47,260,788 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
A |
G |
7: 30,766,688 (GRCm39) |
|
probably null |
Het |
| Mylk3 |
C |
T |
8: 86,081,805 (GRCm39) |
V328M |
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,798,873 (GRCm39) |
E38G |
probably null |
Het |
| Or4k40 |
A |
C |
2: 111,250,657 (GRCm39) |
L213R |
probably damaging |
Het |
| Or51l14 |
A |
T |
7: 103,100,978 (GRCm39) |
K145* |
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,298,612 (GRCm39) |
F346L |
probably damaging |
Het |
| Prex1 |
T |
C |
2: 166,419,806 (GRCm39) |
Y1120C |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,237 (GRCm39) |
T742A |
probably benign |
Het |
| Scd1 |
T |
C |
19: 44,386,533 (GRCm39) |
H298R |
probably damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,235 (GRCm39) |
R224G |
probably benign |
Het |
| Slc45a1 |
A |
G |
4: 150,723,176 (GRCm39) |
|
probably benign |
Het |
| Smim10l1 |
G |
T |
6: 133,082,471 (GRCm39) |
R6L |
probably damaging |
Het |
| Spag5 |
T |
G |
11: 78,210,860 (GRCm39) |
F921C |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,227,186 (GRCm39) |
S667P |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,524 (GRCm39) |
I278V |
probably benign |
Het |
| Thbs1 |
G |
A |
2: 117,943,999 (GRCm39) |
D206N |
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,058,256 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,014,231 (GRCm39) |
N341S |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,399,732 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation