Incidental Mutation 'R1820:Scai'
ID |
204766 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scai
|
Ensembl Gene |
ENSMUSG00000035236 |
Gene Name |
suppressor of cancer cell invasion |
Synonyms |
A930041I02Rik |
MMRRC Submission |
039848-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.533)
|
Stock # |
R1820 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
38956226-39080746 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 38996990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 268
(M268K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037194
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038874]
[ENSMUST00000147433]
[ENSMUST00000204093]
[ENSMUST00000204404]
|
AlphaFold |
Q8C8N2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038874
AA Change: M268K
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000037194 Gene: ENSMUSG00000035236 AA Change: M268K
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 |
possibly damaging
Transcript: ENSMUST00000204093
AA Change: M268K
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000145133 Gene: ENSMUSG00000035236 AA Change: M268K
Domain | Start | End | E-Value | Type |
Pfam:DUF3550
|
64 |
480 |
2.5e-177 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204404
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.5%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,197,018 (GRCm39) |
V197A |
possibly damaging |
Het |
9230109A22Rik |
T |
C |
15: 25,139,176 (GRCm39) |
|
noncoding transcript |
Het |
Acbd3 |
A |
G |
1: 180,572,703 (GRCm39) |
N321S |
probably benign |
Het |
Actr3b |
T |
C |
5: 26,054,156 (GRCm39) |
|
probably null |
Het |
Aldh5a1 |
T |
C |
13: 25,111,555 (GRCm39) |
D124G |
probably benign |
Het |
Arhgap35 |
G |
A |
7: 16,295,874 (GRCm39) |
R1064W |
possibly damaging |
Het |
Arhgef9 |
T |
A |
X: 94,125,142 (GRCm39) |
I225F |
probably damaging |
Het |
Arl16 |
T |
C |
11: 120,357,587 (GRCm39) |
T43A |
probably damaging |
Het |
Camsap3 |
T |
C |
8: 3,653,485 (GRCm39) |
W409R |
probably damaging |
Het |
Cfap43 |
T |
A |
19: 47,885,655 (GRCm39) |
H320L |
probably damaging |
Het |
Chac2 |
T |
A |
11: 30,927,496 (GRCm39) |
N141I |
probably damaging |
Het |
Chtf18 |
C |
A |
17: 25,944,913 (GRCm39) |
G211C |
probably damaging |
Het |
Cplane1 |
A |
G |
15: 8,299,129 (GRCm39) |
K3106E |
unknown |
Het |
Cwf19l1 |
T |
A |
19: 44,115,826 (GRCm39) |
Y201F |
probably benign |
Het |
Dcun1d1 |
A |
T |
3: 35,973,153 (GRCm39) |
L114* |
probably null |
Het |
Fdps |
A |
T |
3: 89,002,350 (GRCm39) |
H249Q |
probably benign |
Het |
Fhip1a |
T |
A |
3: 85,573,136 (GRCm39) |
T938S |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,931,756 (GRCm39) |
Y329F |
probably damaging |
Het |
Kctd8 |
T |
A |
5: 69,497,684 (GRCm39) |
I321F |
probably damaging |
Het |
Kdm5b |
G |
T |
1: 134,525,408 (GRCm39) |
R299L |
possibly damaging |
Het |
Kif23 |
T |
C |
9: 61,833,720 (GRCm39) |
T494A |
possibly damaging |
Het |
Kmt2e |
A |
G |
5: 23,678,545 (GRCm39) |
H208R |
probably damaging |
Het |
Lipo5 |
A |
T |
19: 33,441,995 (GRCm39) |
|
probably null |
Het |
Lrrc28 |
G |
T |
7: 67,290,859 (GRCm39) |
T54K |
probably damaging |
Het |
Luc7l2 |
G |
A |
6: 38,575,754 (GRCm39) |
|
probably null |
Het |
Man2a2 |
A |
G |
7: 80,008,681 (GRCm39) |
F899L |
probably benign |
Het |
Myo9b |
T |
C |
8: 71,786,002 (GRCm39) |
I633T |
probably damaging |
Het |
Nynrin |
A |
T |
14: 56,107,835 (GRCm39) |
I981F |
possibly damaging |
Het |
Or5an1c |
A |
T |
19: 12,218,612 (GRCm39) |
S138T |
probably damaging |
Het |
Or8g28 |
A |
G |
9: 39,169,695 (GRCm39) |
I91T |
possibly damaging |
Het |
Pank1 |
A |
G |
19: 34,855,084 (GRCm39) |
|
probably null |
Het |
Phc2 |
C |
T |
4: 128,637,336 (GRCm39) |
A47V |
probably damaging |
Het |
Plekhs1 |
A |
G |
19: 56,466,954 (GRCm39) |
R262G |
possibly damaging |
Het |
Pnp2 |
C |
A |
14: 51,201,914 (GRCm39) |
P300Q |
possibly damaging |
Het |
Polq |
T |
A |
16: 36,849,780 (GRCm39) |
S345T |
possibly damaging |
Het |
Prag1 |
A |
G |
8: 36,570,958 (GRCm39) |
T514A |
probably benign |
Het |
Psmd5 |
T |
C |
2: 34,760,758 (GRCm39) |
|
probably null |
Het |
Rfx6 |
T |
G |
10: 51,599,221 (GRCm39) |
|
probably null |
Het |
Rhbdd2 |
G |
A |
5: 135,664,903 (GRCm39) |
C78Y |
probably damaging |
Het |
Rnf157 |
G |
T |
11: 116,245,477 (GRCm39) |
P313T |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,602,202 (GRCm39) |
L4560P |
probably damaging |
Het |
Scd3 |
A |
T |
19: 44,230,245 (GRCm39) |
T343S |
probably benign |
Het |
Scimp |
A |
T |
11: 70,682,423 (GRCm39) |
S98T |
probably benign |
Het |
Sfrp2 |
A |
G |
3: 83,680,461 (GRCm39) |
N207S |
probably benign |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sis |
T |
C |
3: 72,828,475 (GRCm39) |
Y1200C |
probably damaging |
Het |
Sp1 |
T |
A |
15: 102,317,511 (GRCm39) |
S343R |
possibly damaging |
Het |
Spata31d1a |
A |
T |
13: 59,849,069 (GRCm39) |
C1020S |
possibly damaging |
Het |
Spink5 |
A |
G |
18: 44,122,486 (GRCm39) |
N317S |
possibly damaging |
Het |
Sptbn2 |
A |
G |
19: 4,776,624 (GRCm39) |
D224G |
probably damaging |
Het |
St8sia3 |
T |
C |
18: 64,402,703 (GRCm39) |
I114T |
probably damaging |
Het |
Zscan5b |
C |
A |
7: 6,242,162 (GRCm39) |
H460Q |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATTTGACCATTCCTCACAGTTG -3'
(R):5'- TTCTTGAGAGAAAGCTTGTCACC -3'
Sequencing Primer
(F):5'- GACCATTCCTCACAGTTGTAAGGAG -3'
(R):5'- AAGCTTGTCACCGTCATAGG -3'
|
Posted On |
2014-06-23 |