Incidental Mutation 'IGL02149:Cage1'
| ID |
281901 |
| 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 # |
IGL02149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
38190028-38221045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38206505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 447
(N447D)
|
| 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: N553D
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
AA Change: N553D
| 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: N447D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087278
Gene: ENSMUSG00000044566
AA Change: N447D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAGE1
|
1 |
420 |
6.8e-230 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110233
AA Change: N553D
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
AA Change: N553D
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
A |
T |
9: 70,610,713 (GRCm39) |
H67L |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,412,326 (GRCm39) |
T435I |
probably damaging |
Het |
| Adgrd1 |
T |
A |
5: 129,256,325 (GRCm39) |
F652Y |
probably damaging |
Het |
| Adgrl4 |
T |
A |
3: 151,205,991 (GRCm39) |
F250Y |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,588,010 (GRCm39) |
A360V |
probably benign |
Het |
| AW551984 |
A |
C |
9: 39,504,220 (GRCm39) |
M582R |
probably benign |
Het |
| B430306N03Rik |
T |
C |
17: 48,624,020 (GRCm39) |
V107A |
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,657,071 (GRCm39) |
D524G |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,743,022 (GRCm39) |
I218F |
probably benign |
Het |
| Ep300 |
T |
G |
15: 81,512,621 (GRCm39) |
|
probably benign |
Het |
| Ephb2 |
C |
T |
4: 136,421,225 (GRCm39) |
C375Y |
probably damaging |
Het |
| Fastk |
A |
G |
5: 24,649,051 (GRCm39) |
V112A |
probably damaging |
Het |
| Fbxo11 |
T |
A |
17: 88,301,187 (GRCm39) |
R775S |
possibly damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,062,886 (GRCm39) |
|
probably null |
Het |
| Hamp2 |
G |
T |
7: 30,622,122 (GRCm39) |
A50E |
probably damaging |
Het |
| Il22b |
C |
A |
10: 118,130,902 (GRCm39) |
|
probably benign |
Het |
| Ints1 |
G |
A |
5: 139,737,715 (GRCm39) |
R2139C |
probably damaging |
Het |
| Itgae |
T |
A |
11: 72,994,720 (GRCm39) |
V24E |
probably benign |
Het |
| Jakmip3 |
G |
A |
7: 138,609,075 (GRCm39) |
V60M |
possibly damaging |
Het |
| Kcnk10 |
A |
C |
12: 98,485,099 (GRCm39) |
|
probably benign |
Het |
| Klra1 |
A |
T |
6: 130,352,293 (GRCm39) |
C150S |
probably damaging |
Het |
| Lhx9 |
A |
T |
1: 138,759,172 (GRCm39) |
V376E |
probably damaging |
Het |
| Mdm1 |
T |
A |
10: 117,983,970 (GRCm39) |
F199I |
probably damaging |
Het |
| Nipal3 |
G |
T |
4: 135,194,163 (GRCm39) |
T290K |
possibly damaging |
Het |
| Obsl1 |
C |
T |
1: 75,480,464 (GRCm39) |
E387K |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,693 (GRCm39) |
H175R |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,120,711 (GRCm39) |
Y265C |
probably damaging |
Het |
| Pccb |
G |
A |
9: 100,867,243 (GRCm39) |
H411Y |
probably damaging |
Het |
| Pkp1 |
A |
G |
1: 135,814,485 (GRCm39) |
S279P |
probably benign |
Het |
| Prdm14 |
C |
A |
1: 13,195,663 (GRCm39) |
G133C |
probably benign |
Het |
| Prkaa2 |
A |
T |
4: 104,897,285 (GRCm39) |
N309K |
probably benign |
Het |
| Shc2 |
T |
C |
10: 79,458,102 (GRCm39) |
D527G |
probably damaging |
Het |
| Shkbp1 |
C |
T |
7: 27,042,064 (GRCm39) |
|
probably benign |
Het |
| Skil |
T |
C |
3: 31,151,856 (GRCm39) |
V126A |
possibly damaging |
Het |
| Slc25a36 |
A |
T |
9: 96,975,122 (GRCm39) |
|
probably benign |
Het |
| Slc2a13 |
T |
C |
15: 91,227,924 (GRCm39) |
T423A |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,657,892 (GRCm39) |
|
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,769,442 (GRCm39) |
D519G |
probably benign |
Het |
| Tmprss2 |
G |
T |
16: 97,400,479 (GRCm39) |
|
probably benign |
Het |
| Trim66 |
G |
T |
7: 109,060,109 (GRCm39) |
T759K |
possibly damaging |
Het |
| Trpc4ap |
C |
A |
2: 155,481,467 (GRCm39) |
A530S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,642,099 (GRCm39) |
D11625E |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,483,141 (GRCm39) |
I42M |
possibly damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,584 (GRCm39) |
S31P |
probably benign |
Het |
| Ubxn7 |
A |
G |
16: 32,194,088 (GRCm39) |
Y220C |
probably damaging |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,269 (GRCm39) |
Y61C |
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 |
|
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 |
|
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