Incidental Mutation 'R4041:Cage1'
ID |
313892 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cage1
|
Ensembl Gene |
ENSMUSG00000044566 |
Gene Name |
cancer antigen 1 |
Synonyms |
Ctag3, CAGE1, 4933427I01Rik |
MMRRC Submission |
040966-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R4041 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
38190028-38221045 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38203153 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 637
(L637P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105862
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074969]
[ENSMUST00000089840]
[ENSMUST00000110233]
[ENSMUST00000131066]
|
AlphaFold |
Q5IR70 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074969
AA Change: L637P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000074499 Gene: ENSMUSG00000044566 AA Change: L637P
Domain | Start | End | E-Value | Type |
Pfam:CAGE1
|
1 |
526 |
5.1e-292 |
PFAM |
low complexity region
|
664 |
682 |
N/A |
INTRINSIC |
coiled coil region
|
778 |
811 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089840
|
SMART Domains |
Protein: ENSMUSP00000087278 Gene: ENSMUSG00000044566
Domain | Start | End | E-Value | Type |
Pfam:CAGE1
|
1 |
420 |
6.8e-230 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110233
AA Change: L637P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105862 Gene: ENSMUSG00000044566 AA Change: L637P
Domain | Start | End | E-Value | Type |
Pfam:CAGE1
|
1 |
526 |
2.4e-255 |
PFAM |
low complexity region
|
664 |
682 |
N/A |
INTRINSIC |
coiled coil region
|
778 |
811 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131066
|
SMART Domains |
Protein: ENSMUSP00000122393 Gene: ENSMUSG00000044566
Domain | Start | End | E-Value | Type |
Pfam:CAGE1
|
1 |
318 |
6.5e-167 |
PFAM |
|
Meta Mutation Damage Score |
0.4848 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
100% (29/29) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atf5 |
T |
C |
7: 44,462,921 (GRCm39) |
T68A |
possibly damaging |
Het |
Cfl1 |
T |
C |
19: 5,542,556 (GRCm39) |
I12T |
probably benign |
Het |
Clcn1 |
A |
G |
6: 42,286,902 (GRCm39) |
E653G |
probably damaging |
Het |
Cntnap5a |
C |
A |
1: 116,112,129 (GRCm39) |
P473Q |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,120,655 (GRCm39) |
S91P |
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,813,404 (GRCm39) |
Q2313R |
probably benign |
Het |
Gpc5 |
A |
T |
14: 115,370,628 (GRCm39) |
Q151L |
probably damaging |
Het |
Hexim1 |
A |
G |
11: 103,007,932 (GRCm39) |
E62G |
probably benign |
Het |
Ifna13 |
A |
G |
4: 88,562,228 (GRCm39) |
F132S |
probably benign |
Het |
Irgm2 |
A |
G |
11: 58,110,956 (GRCm39) |
M228V |
probably benign |
Het |
Klhl41 |
A |
G |
2: 69,501,054 (GRCm39) |
M172V |
probably benign |
Het |
Klk1 |
A |
T |
7: 43,878,986 (GRCm39) |
N260I |
probably damaging |
Het |
Krit1 |
G |
C |
5: 3,859,642 (GRCm39) |
R110P |
probably damaging |
Het |
Krt7 |
T |
A |
15: 101,321,161 (GRCm39) |
|
probably null |
Het |
Lrrn4cl |
T |
A |
19: 8,829,468 (GRCm39) |
Y149N |
probably damaging |
Het |
Ltbp3 |
G |
T |
19: 5,801,899 (GRCm39) |
C739F |
possibly damaging |
Het |
Mbnl2 |
C |
T |
14: 120,626,486 (GRCm39) |
H239Y |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,942,357 (GRCm39) |
R4942* |
probably null |
Het |
Or2bd2 |
T |
C |
7: 6,443,688 (GRCm39) |
L263P |
probably damaging |
Het |
R3hcc1 |
A |
G |
14: 69,944,111 (GRCm39) |
S45P |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,785,356 (GRCm39) |
H1778Q |
possibly damaging |
Het |
Scyl2 |
T |
A |
10: 89,485,914 (GRCm39) |
K558N |
probably damaging |
Het |
Shank1 |
G |
A |
7: 43,991,586 (GRCm39) |
V677M |
unknown |
Het |
Slc39a5 |
T |
C |
10: 128,232,337 (GRCm39) |
M488V |
possibly damaging |
Het |
Styk1 |
A |
T |
6: 131,289,880 (GRCm39) |
|
probably null |
Het |
Styxl2 |
T |
C |
1: 165,927,680 (GRCm39) |
D644G |
probably benign |
Het |
Usp32 |
A |
G |
11: 84,908,565 (GRCm39) |
V1047A |
probably benign |
Het |
Wnt3a |
G |
T |
11: 59,140,470 (GRCm39) |
H349N |
probably damaging |
Het |
Zbtb39 |
T |
C |
10: 127,579,423 (GRCm39) |
C666R |
probably damaging |
Het |
Zfp420 |
T |
C |
7: 29,575,427 (GRCm39) |
M549T |
probably benign |
Het |
|
Other mutations in Cage1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00648:Cage1
|
APN |
13 |
38,206,969 (GRCm39) |
nonsense |
probably null |
|
IGL01736:Cage1
|
APN |
13 |
38,206,789 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02149:Cage1
|
APN |
13 |
38,206,505 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02267:Cage1
|
APN |
13 |
38,207,233 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03030:Cage1
|
APN |
13 |
38,212,123 (GRCm39) |
missense |
probably benign |
|
IGL03216:Cage1
|
APN |
13 |
38,190,153 (GRCm39) |
splice site |
probably benign |
|
R0487:Cage1
|
UTSW |
13 |
38,209,334 (GRCm39) |
missense |
probably benign |
0.00 |
R0606:Cage1
|
UTSW |
13 |
38,200,470 (GRCm39) |
splice site |
probably benign |
|
R1015:Cage1
|
UTSW |
13 |
38,200,451 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1170:Cage1
|
UTSW |
13 |
38,206,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R1400:Cage1
|
UTSW |
13 |
38,216,400 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1721:Cage1
|
UTSW |
13 |
38,207,309 (GRCm39) |
nonsense |
probably null |
|
R2057:Cage1
|
UTSW |
13 |
38,207,356 (GRCm39) |
missense |
probably benign |
0.04 |
R2058:Cage1
|
UTSW |
13 |
38,207,356 (GRCm39) |
missense |
probably benign |
0.04 |
R2059:Cage1
|
UTSW |
13 |
38,207,356 (GRCm39) |
missense |
probably benign |
0.04 |
R2197:Cage1
|
UTSW |
13 |
38,207,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R3757:Cage1
|
UTSW |
13 |
38,209,705 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3758:Cage1
|
UTSW |
13 |
38,209,705 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4370:Cage1
|
UTSW |
13 |
38,209,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R4401:Cage1
|
UTSW |
13 |
38,207,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R4402:Cage1
|
UTSW |
13 |
38,207,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R4403:Cage1
|
UTSW |
13 |
38,207,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R4490:Cage1
|
UTSW |
13 |
38,207,393 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4621:Cage1
|
UTSW |
13 |
38,209,477 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4921:Cage1
|
UTSW |
13 |
38,203,184 (GRCm39) |
missense |
probably benign |
0.33 |
R4950:Cage1
|
UTSW |
13 |
38,207,302 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4953:Cage1
|
UTSW |
13 |
38,207,406 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5023:Cage1
|
UTSW |
13 |
38,195,387 (GRCm39) |
nonsense |
probably null |
|
R5808:Cage1
|
UTSW |
13 |
38,206,301 (GRCm39) |
unclassified |
probably benign |
|
R5845:Cage1
|
UTSW |
13 |
38,199,682 (GRCm39) |
missense |
probably damaging |
0.96 |
R6278:Cage1
|
UTSW |
13 |
38,200,395 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6503:Cage1
|
UTSW |
13 |
38,209,425 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6882:Cage1
|
UTSW |
13 |
38,206,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R7146:Cage1
|
UTSW |
13 |
38,207,025 (GRCm39) |
missense |
probably benign |
0.03 |
R7192:Cage1
|
UTSW |
13 |
38,203,220 (GRCm39) |
missense |
probably benign |
|
R7529:Cage1
|
UTSW |
13 |
38,209,731 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7580:Cage1
|
UTSW |
13 |
38,206,700 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7646:Cage1
|
UTSW |
13 |
38,206,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R7837:Cage1
|
UTSW |
13 |
38,206,381 (GRCm39) |
missense |
not run |
|
R8355:Cage1
|
UTSW |
13 |
38,203,225 (GRCm39) |
missense |
probably damaging |
0.99 |
R8435:Cage1
|
UTSW |
13 |
38,203,161 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8466:Cage1
|
UTSW |
13 |
38,206,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R9047:Cage1
|
UTSW |
13 |
38,201,338 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9086:Cage1
|
UTSW |
13 |
38,206,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R9146:Cage1
|
UTSW |
13 |
38,207,005 (GRCm39) |
missense |
probably benign |
0.16 |
R9442:Cage1
|
UTSW |
13 |
38,196,447 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9587:Cage1
|
UTSW |
13 |
38,207,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R9608:Cage1
|
UTSW |
13 |
38,195,371 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9612:Cage1
|
UTSW |
13 |
38,216,351 (GRCm39) |
missense |
probably damaging |
0.99 |
R9630:Cage1
|
UTSW |
13 |
38,206,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R9690:Cage1
|
UTSW |
13 |
38,203,141 (GRCm39) |
critical splice donor site |
probably null |
|
R9736:Cage1
|
UTSW |
13 |
38,207,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAACATCAAAGATAAGCAGCTCG -3'
(R):5'- GCTTTAAGATAGTGTTTCACCAGTG -3'
Sequencing Primer
(F):5'- TAAGCAGCTCGAAGCCTG -3'
(R):5'- AACACTAACTTGGGTCCTTTGAC -3'
|
Posted On |
2015-04-30 |