Incidental Mutation 'R3758:Cage1'
| ID |
271534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cage1
|
| Ensembl Gene |
ENSMUSG00000044566 |
| Gene Name |
cancer antigen 1 |
| Synonyms |
Ctag3, CAGE1, 4933427I01Rik |
| MMRRC Submission |
040739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R3758 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
38190028-38221045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 38209705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 91
(F91V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074969]
[ENSMUST00000089840]
[ENSMUST00000110233]
[ENSMUST00000131066]
|
| AlphaFold |
Q5IR70 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074969
AA Change: F91V
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
AA Change: F91V
| 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: F91V
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
AA Change: F91V
| 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 |
possibly damaging
Transcript: ENSMUST00000131066
AA Change: F91V
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122393
Gene: ENSMUSG00000044566
AA Change: F91V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAGE1
|
1 |
318 |
6.5e-167 |
PFAM |
|
| Meta Mutation Damage Score |
0.1466 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
93% (28/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
G |
17: 13,146,354 (GRCm39) |
|
probably benign |
Het |
| Bcat1 |
T |
A |
6: 144,978,598 (GRCm39) |
I208F |
probably damaging |
Het |
| Cd200r3 |
T |
G |
16: 44,784,991 (GRCm39) |
|
probably null |
Het |
| Coq8b |
C |
T |
7: 26,941,652 (GRCm39) |
Q246* |
probably null |
Het |
| Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,233,363 (GRCm39) |
S616P |
probably damaging |
Het |
| Fkbp10 |
G |
A |
11: 100,313,451 (GRCm39) |
|
probably null |
Het |
| Gabra1 |
G |
T |
11: 42,066,763 (GRCm39) |
D50E |
probably benign |
Het |
| H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
| Hmgcs2 |
A |
G |
3: 98,198,406 (GRCm39) |
N103S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,053,314 (GRCm39) |
H2549R |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,683,356 (GRCm39) |
E2726G |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,602 (GRCm39) |
N706D |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,996,628 (GRCm39) |
|
probably null |
Het |
| Mtcl2 |
T |
C |
2: 156,862,558 (GRCm39) |
N1457S |
possibly damaging |
Het |
| Nipa2 |
T |
C |
7: 55,585,689 (GRCm39) |
Y102C |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,631,641 (GRCm39) |
C32* |
probably null |
Het |
| Or11h6 |
A |
G |
14: 50,880,493 (GRCm39) |
K252E |
possibly damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,916 (GRCm39) |
F105L |
probably benign |
Het |
| Or52r1b |
A |
G |
7: 102,691,177 (GRCm39) |
S159G |
probably benign |
Het |
| Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,476,079 (GRCm39) |
D405G |
possibly damaging |
Het |
| Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
| Serpinb9b |
A |
G |
13: 33,219,571 (GRCm39) |
Y166C |
probably damaging |
Het |
| Sprr1a |
T |
G |
3: 92,391,704 (GRCm39) |
K99T |
probably damaging |
Het |
| Spsb4 |
A |
G |
9: 96,877,924 (GRCm39) |
V133A |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,915,768 (GRCm39) |
T391A |
probably benign |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,035 (GRCm39) |
E447G |
probably damaging |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
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 |
|
R4041:Cage1
|
UTSW |
13 |
38,203,153 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
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'- CCACTGAACTTTCTTCCTTAAATGG -3'
(R):5'- ATCATGAGTTTGAGGCTATCTTGAG -3'
Sequencing Primer
(F):5'- AAATGGATCTGGCTTTTCACTGC -3'
(R):5'- TGAGGCTATCTTGAGATCAATAGAAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation