Incidental Mutation 'R8466:Cage1'
| ID |
656848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cage1
|
| Ensembl Gene |
ENSMUSG00000044566 |
| Gene Name |
cancer antigen 1 |
| Synonyms |
Ctag3, CAGE1, 4933427I01Rik |
| MMRRC Submission |
067910-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R8466 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
38190028-38221045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38206987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 286
(Q286L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074969]
[ENSMUST00000089840]
[ENSMUST00000110233]
[ENSMUST00000131066]
|
| AlphaFold |
Q5IR70 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074969
AA Change: Q392L
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
AA Change: Q392L
| 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 damaging
Transcript: ENSMUST00000089840
AA Change: Q286L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087278
Gene: ENSMUSG00000044566
AA Change: Q286L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAGE1
|
1 |
420 |
6.8e-230 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110233
AA Change: Q392L
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
AA Change: Q392L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,437,873 (GRCm39) |
E94G |
probably benign |
Het |
| Abhd16a |
G |
T |
17: 35,313,236 (GRCm39) |
R118L |
probably damaging |
Het |
| Adamts1 |
A |
G |
16: 85,599,400 (GRCm39) |
S67P |
probably benign |
Het |
| Adar |
C |
T |
3: 89,658,466 (GRCm39) |
P656L |
probably damaging |
Het |
| Afg3l1 |
G |
A |
8: 124,216,648 (GRCm39) |
D296N |
probably benign |
Het |
| Akap9 |
G |
A |
5: 4,088,659 (GRCm39) |
R2096Q |
probably damaging |
Het |
| Aldh1a2 |
T |
A |
9: 71,160,205 (GRCm39) |
I77K |
probably benign |
Het |
| Cacnb4 |
A |
C |
2: 52,354,679 (GRCm39) |
V233G |
probably damaging |
Het |
| Camta1 |
T |
A |
4: 151,170,577 (GRCm39) |
K1055* |
probably null |
Het |
| Ccdc96 |
C |
A |
5: 36,642,252 (GRCm39) |
|
probably benign |
Het |
| Cep70 |
T |
C |
9: 99,160,073 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
| Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
| Ddx24 |
G |
T |
12: 103,376,160 (GRCm39) |
L779I |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,952,336 (GRCm39) |
E378G |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,438,621 (GRCm39) |
N172D |
probably damaging |
Het |
| Gprin3 |
C |
A |
6: 59,331,466 (GRCm39) |
Q280H |
possibly damaging |
Het |
| Gprin3 |
T |
A |
6: 59,331,467 (GRCm39) |
Q280L |
probably benign |
Het |
| Gucy2d |
C |
A |
7: 98,099,237 (GRCm39) |
P351Q |
probably damaging |
Het |
| H2-M11 |
G |
A |
17: 36,858,985 (GRCm39) |
G175D |
probably benign |
Het |
| Klhl42 |
C |
T |
6: 147,009,241 (GRCm39) |
T360M |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,120,948 (GRCm39) |
E2695K |
|
Het |
| Lsg1 |
T |
C |
16: 30,400,919 (GRCm39) |
Q130R |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,349,237 (GRCm39) |
T2100A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,554,444 (GRCm39) |
T3950A |
unknown |
Het |
| Myo1c |
G |
A |
11: 75,549,213 (GRCm39) |
R109H |
probably damaging |
Het |
| Nol4 |
C |
A |
18: 23,171,638 (GRCm39) |
A8S |
probably benign |
Het |
| Or1e1f |
A |
T |
11: 73,855,913 (GRCm39) |
T160S |
probably damaging |
Het |
| Or1p1b |
A |
G |
11: 74,131,016 (GRCm39) |
I209V |
probably benign |
Het |
| Pabpn1l |
C |
T |
8: 123,347,625 (GRCm39) |
V216M |
possibly damaging |
Het |
| Papln |
A |
C |
12: 83,825,255 (GRCm39) |
|
probably null |
Het |
| Pcsk5 |
A |
T |
19: 17,549,864 (GRCm39) |
C709* |
probably null |
Het |
| Pglyrp3 |
T |
A |
3: 91,921,941 (GRCm39) |
V3E |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,130,963 (GRCm39) |
N831D |
probably damaging |
Het |
| Prp2rt |
T |
C |
13: 97,235,492 (GRCm39) |
D85G |
probably damaging |
Het |
| Prss22 |
T |
C |
17: 24,215,802 (GRCm39) |
D40G |
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,316,057 (GRCm39) |
F208S |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,985 (GRCm39) |
N117K |
probably damaging |
Het |
| Srsf9 |
G |
C |
5: 115,465,492 (GRCm39) |
R42P |
probably benign |
Het |
| Stat3 |
A |
T |
11: 100,785,924 (GRCm39) |
I451N |
probably damaging |
Het |
| Tecrl |
A |
T |
5: 83,428,367 (GRCm39) |
Y301* |
probably null |
Het |
| Togaram1 |
T |
C |
12: 65,033,216 (GRCm39) |
S1065P |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,350,630 (GRCm39) |
L39Q |
probably null |
Het |
| Utp20 |
A |
T |
10: 88,654,365 (GRCm39) |
S241T |
probably damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,783,997 (GRCm39) |
F159S |
probably damaging |
Het |
| Wdr76 |
A |
C |
2: 121,341,038 (GRCm39) |
N28H |
probably damaging |
Het |
| Zfhx2 |
T |
A |
14: 55,310,353 (GRCm39) |
Y731F |
possibly damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,307,762 (GRCm39) |
E329D |
probably damaging |
Het |
| Zswim8 |
A |
T |
14: 20,760,744 (GRCm39) |
Q83L |
possibly damaging |
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 |
|
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 |
|
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'- AAGGTCTTTTCTATCTCCAGGC -3'
(R):5'- CAGCTGTGAAGGCTTAGAGC -3'
Sequencing Primer
(F):5'- CACTGACTGGCCGATCTG -3'
(R):5'- TGCAGATTCAAGACCTCCATGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation