Incidental Mutation 'R4467:Casc1'
| ID |
329238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casc1
|
| Ensembl Gene |
ENSMUSG00000043541 |
| Gene Name |
cancer susceptibility candidate 1 |
| Synonyms |
A230084G12Rik, Las1 |
| MMRRC Submission |
041724-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4467 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
145174834-145211005 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 145183218 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060797]
[ENSMUST00000060797]
[ENSMUST00000111728]
[ENSMUST00000111728]
[ENSMUST00000204105]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000060797
|
| SMART Domains |
Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
Pfam:Casc1_N
|
29 |
229 |
5.5e-61 |
PFAM |
|
Pfam:Casc1
|
241 |
469 |
3.4e-15 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000060797
|
| SMART Domains |
Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
Pfam:Casc1_N
|
29 |
229 |
5.5e-61 |
PFAM |
|
Pfam:Casc1
|
241 |
469 |
3.4e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111727
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111728
|
| SMART Domains |
Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
45 |
N/A |
INTRINSIC |
|
Pfam:Casc1
|
228 |
456 |
6.1e-15 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111728
|
| SMART Domains |
Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
45 |
N/A |
INTRINSIC |
|
Pfam:Casc1
|
228 |
456 |
6.1e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141307
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204105
|
| SMART Domains |
Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
Pfam:Casc1_N
|
29 |
229 |
3.4e-57 |
PFAM |
|
Pfam:Casc1
|
241 |
469 |
2.3e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.9488 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
PHENOTYPE: Mice with disruptions of this gene display a higher incidence of lung tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 63,898,839 |
|
probably benign |
Het |
| 4930402H24Rik |
A |
G |
2: 130,767,647 |
I372T |
probably damaging |
Het |
| Atg4a-ps |
A |
G |
3: 103,645,855 |
Y57H |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 25,769,488 |
A228T |
probably benign |
Het |
| Bms1 |
G |
A |
6: 118,383,847 |
T1220I |
probably damaging |
Het |
| Brat1 |
T |
C |
5: 140,705,071 |
|
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,294,446 |
Y39* |
probably null |
Het |
| Chrnd |
T |
A |
1: 87,197,377 |
L384Q |
probably damaging |
Het |
| Cpa3 |
A |
T |
3: 20,228,817 |
Y155* |
probably null |
Het |
| Crlf1 |
G |
A |
8: 70,500,956 |
W260* |
probably null |
Het |
| Cux1 |
C |
G |
5: 136,312,722 |
E605D |
probably damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 |
T331R |
unknown |
Het |
| Dmtf1 |
T |
C |
5: 9,136,085 |
N167S |
probably damaging |
Het |
| Dtx2 |
T |
A |
5: 136,012,076 |
W112R |
probably damaging |
Het |
| Elf3 |
A |
G |
1: 135,256,844 |
I138T |
probably damaging |
Het |
| F11 |
T |
A |
8: 45,241,474 |
I617F |
probably damaging |
Het |
| Fdps |
A |
T |
3: 89,100,786 |
D8E |
possibly damaging |
Het |
| Fzd10 |
C |
A |
5: 128,601,276 |
T20K |
probably benign |
Het |
| Gm9978 |
T |
A |
10: 78,486,916 |
|
noncoding transcript |
Het |
| Gpr158 |
T |
A |
2: 21,826,999 |
M970K |
probably damaging |
Het |
| Has1 |
C |
T |
17: 17,843,995 |
V461M |
probably benign |
Het |
| Hdac3 |
C |
T |
18: 37,952,513 |
G80D |
probably benign |
Het |
| Klk12 |
A |
T |
7: 43,773,383 |
R245W |
probably damaging |
Het |
| Lamp5 |
A |
G |
2: 136,059,020 |
I47V |
probably damaging |
Het |
| Olfr786 |
T |
C |
10: 129,437,064 |
I84T |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,977,711 |
D122G |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 122,486,396 |
E1875G |
probably benign |
Het |
| Pih1d1 |
A |
G |
7: 45,158,497 |
M132V |
possibly damaging |
Het |
| Pon2 |
C |
T |
6: 5,267,021 |
A241T |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,619,911 |
I538V |
possibly damaging |
Het |
| Rab36 |
C |
T |
10: 75,052,043 |
R249* |
probably null |
Het |
| Rps6kl1 |
C |
T |
12: 85,147,808 |
A110T |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,544,530 |
T244A |
probably benign |
Het |
| Slc22a7 |
T |
C |
17: 46,432,510 |
I532V |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,163,274 |
V377A |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,989,055 |
V508A |
possibly damaging |
Het |
| Stag2 |
A |
G |
X: 42,233,872 |
S400G |
probably benign |
Het |
| Stat6 |
T |
G |
10: 127,651,228 |
I201M |
probably damaging |
Het |
| Stim2 |
T |
C |
5: 54,116,194 |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,210,478 |
Y63C |
probably damaging |
Het |
| Tctn2 |
T |
C |
5: 124,620,189 |
|
noncoding transcript |
Het |
| Tmem181a |
T |
A |
17: 6,295,786 |
L185H |
probably damaging |
Het |
| Ubr5 |
T |
A |
15: 38,004,336 |
T1282S |
probably damaging |
Het |
| Ufl1 |
A |
T |
4: 25,254,806 |
I550N |
probably damaging |
Het |
| Uty |
A |
G |
Y: 1,158,372 |
V557A |
possibly damaging |
Het |
| Vmn1r54 |
T |
C |
6: 90,269,271 |
S56P |
probably damaging |
Het |
| Zfp980 |
G |
A |
4: 145,702,083 |
G461S |
probably benign |
Het |
|
| Other mutations in Casc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Casc1
|
APN |
6 |
145,175,290 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00586:Casc1
|
APN |
6 |
145,191,576 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL01066:Casc1
|
APN |
6 |
145,176,222 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01413:Casc1
|
APN |
6 |
145,175,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02275:Casc1
|
APN |
6 |
145,177,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02668:Casc1
|
APN |
6 |
145,205,257 (GRCm38) |
missense |
unknown |
|
|
IGL03018:Casc1
|
APN |
6 |
145,183,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03233:Casc1
|
APN |
6 |
145,181,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0011:Casc1
|
UTSW |
6 |
145,179,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0011:Casc1
|
UTSW |
6 |
145,179,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0180:Casc1
|
UTSW |
6 |
145,183,218 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R0786:Casc1
|
UTSW |
6 |
145,181,757 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1916:Casc1
|
UTSW |
6 |
145,176,200 (GRCm38) |
missense |
probably benign |
0.37 |
|
R2117:Casc1
|
UTSW |
6 |
145,205,241 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2174:Casc1
|
UTSW |
6 |
145,175,170 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2264:Casc1
|
UTSW |
6 |
145,208,429 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R4393:Casc1
|
UTSW |
6 |
145,194,578 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R4847:Casc1
|
UTSW |
6 |
145,175,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5014:Casc1
|
UTSW |
6 |
145,183,266 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5207:Casc1
|
UTSW |
6 |
145,179,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5264:Casc1
|
UTSW |
6 |
145,181,776 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5359:Casc1
|
UTSW |
6 |
145,196,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5499:Casc1
|
UTSW |
6 |
145,177,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6211:Casc1
|
UTSW |
6 |
145,200,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6579:Casc1
|
UTSW |
6 |
145,179,018 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6939:Casc1
|
UTSW |
6 |
145,175,219 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R7108:Casc1
|
UTSW |
6 |
145,185,865 (GRCm38) |
nonsense |
probably null |
|
|
R7131:Casc1
|
UTSW |
6 |
145,177,406 (GRCm38) |
missense |
probably null |
0.97 |
|
R7810:Casc1
|
UTSW |
6 |
145,194,586 (GRCm38) |
missense |
probably benign |
0.28 |
|
R8017:Casc1
|
UTSW |
6 |
145,194,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8385:Casc1
|
UTSW |
6 |
145,175,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8680:Casc1
|
UTSW |
6 |
145,181,816 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8720:Casc1
|
UTSW |
6 |
145,205,257 (GRCm38) |
missense |
unknown |
|
|
R9118:Casc1
|
UTSW |
6 |
145,175,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9118:Casc1
|
UTSW |
6 |
145,175,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9172:Casc1
|
UTSW |
6 |
145,177,449 (GRCm38) |
missense |
probably benign |
|
|
R9290:Casc1
|
UTSW |
6 |
145,202,962 (GRCm38) |
missense |
unknown |
|
|
X0063:Casc1
|
UTSW |
6 |
145,175,271 (GRCm38) |
missense |
probably benign |
0.13 |
|
Z1176:Casc1
|
UTSW |
6 |
145,205,293 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGACTGGCTGTATCAAGG -3'
(R):5'- ATCCTTCTTGACCGCAACAATG -3'
Sequencing Primer
(F):5'- CTGTATCAAGGGCTGACTGACAC -3'
(R):5'- CTTCTTGACCGCAACAATGTTATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation