Incidental Mutation 'IGL02267:Cage1'
| ID |
286945 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cage1
|
| Ensembl Gene |
ENSMUSG00000044566 |
| Gene Name |
cancer antigen 1 |
| Synonyms |
Ctag3, CAGE1, 4933427I01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
IGL02267
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
38190028-38221045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38207233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 204
(E204G)
|
| 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: E310G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
AA Change: E310G
| 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: E204G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087278
Gene: ENSMUSG00000044566
AA Change: E204G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAGE1
|
1 |
420 |
6.8e-230 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110233
AA Change: E310G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
AA Change: E310G
| 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: E310G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122393
Gene: ENSMUSG00000044566
AA Change: E310G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAGE1
|
1 |
318 |
6.5e-167 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,683,505 (GRCm39) |
Q929R |
probably benign |
Het |
| Aplf |
A |
T |
6: 87,635,946 (GRCm39) |
D122E |
probably damaging |
Het |
| Atp2a3 |
T |
A |
11: 72,878,810 (GRCm39) |
L874Q |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,770,691 (GRCm39) |
L406Q |
probably damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,733,891 (GRCm39) |
D374G |
probably benign |
Het |
| Bcas1 |
T |
A |
2: 170,220,708 (GRCm39) |
R239* |
probably null |
Het |
| Bhmt2 |
A |
G |
13: 93,805,854 (GRCm39) |
V56A |
probably damaging |
Het |
| Ccdc157 |
G |
A |
11: 4,094,035 (GRCm39) |
A532V |
probably benign |
Het |
| Cd300lb |
G |
A |
11: 114,819,303 (GRCm39) |
R109* |
probably null |
Het |
| Clca4c-ps |
T |
C |
3: 144,585,516 (GRCm39) |
|
noncoding transcript |
Het |
| Ctnna3 |
G |
T |
10: 64,781,777 (GRCm39) |
V747F |
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,318,866 (GRCm39) |
I488F |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,935,362 (GRCm39) |
M85V |
possibly damaging |
Het |
| Dnah7b |
T |
A |
1: 46,266,090 (GRCm39) |
Y2220N |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,224,099 (GRCm39) |
I1217V |
probably benign |
Het |
| Exoc2 |
A |
G |
13: 30,999,304 (GRCm39) |
S918P |
probably benign |
Het |
| Fer1l4 |
T |
A |
2: 155,873,172 (GRCm39) |
I1303F |
possibly damaging |
Het |
| Gm28047 |
A |
T |
15: 102,455,662 (GRCm39) |
I234K |
probably damaging |
Het |
| Gpcpd1 |
A |
G |
2: 132,410,630 (GRCm39) |
V19A |
probably damaging |
Het |
| Gprin3 |
A |
G |
6: 59,331,458 (GRCm39) |
V283A |
probably benign |
Het |
| Grb14 |
A |
G |
2: 64,783,960 (GRCm39) |
Y56H |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,767,209 (GRCm39) |
F331S |
probably benign |
Het |
| Iigp1c |
T |
G |
18: 60,379,470 (GRCm39) |
V335G |
probably damaging |
Het |
| Jkamp |
A |
G |
12: 72,141,591 (GRCm39) |
Y198C |
probably damaging |
Het |
| Klk1b11 |
G |
T |
7: 43,649,165 (GRCm39) |
C234F |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,552,649 (GRCm39) |
T181A |
probably benign |
Het |
| Or1e23 |
A |
G |
11: 73,407,375 (GRCm39) |
S217P |
probably benign |
Het |
| Or2m13 |
A |
T |
16: 19,225,914 (GRCm39) |
L285Q |
possibly damaging |
Het |
| Or5ak4 |
T |
A |
2: 85,161,465 (GRCm39) |
Y259F |
probably damaging |
Het |
| Pitpnm3 |
A |
T |
11: 71,962,274 (GRCm39) |
I227N |
probably benign |
Het |
| Pnn |
A |
G |
12: 59,116,995 (GRCm39) |
E189G |
probably damaging |
Het |
| Pnpla2 |
C |
A |
7: 141,038,122 (GRCm39) |
P197T |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,567,327 (GRCm39) |
T62A |
probably benign |
Het |
| Ptprq |
G |
T |
10: 107,482,419 (GRCm39) |
D1051E |
probably damaging |
Het |
| Rag2 |
C |
T |
2: 101,460,376 (GRCm39) |
R229C |
probably damaging |
Het |
| Serinc1 |
A |
T |
10: 57,399,204 (GRCm39) |
I196N |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,680,583 (GRCm39) |
C43R |
probably damaging |
Het |
| Slc2a3 |
A |
T |
6: 122,716,931 (GRCm39) |
Y44N |
probably benign |
Het |
| Smad5 |
T |
G |
13: 56,883,603 (GRCm39) |
|
probably benign |
Het |
| Sugct |
C |
A |
13: 17,819,450 (GRCm39) |
V132F |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,117,030 (GRCm39) |
E568G |
possibly damaging |
Het |
| Tfpt |
T |
C |
7: 3,631,982 (GRCm39) |
T43A |
probably damaging |
Het |
| Timp4 |
A |
T |
6: 115,224,240 (GRCm39) |
V143E |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 74,031,290 (GRCm39) |
D275G |
possibly damaging |
Het |
| Trib1 |
A |
G |
15: 59,523,449 (GRCm39) |
E161G |
probably damaging |
Het |
| Trpc7 |
A |
T |
13: 57,008,743 (GRCm39) |
L308Q |
probably damaging |
Het |
| Ush1c |
A |
T |
7: 45,858,722 (GRCm39) |
V522E |
possibly damaging |
Het |
| Usp28 |
T |
C |
9: 48,935,265 (GRCm39) |
V449A |
probably damaging |
Het |
| Vmn1r82 |
A |
G |
7: 12,039,273 (GRCm39) |
Y64C |
probably damaging |
Het |
| Wwox |
G |
A |
8: 115,438,805 (GRCm39) |
M290I |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation