Incidental Mutation 'R9587:Cage1'
ID |
722848 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cage1
|
Ensembl Gene |
ENSMUSG00000044566 |
Gene Name |
cancer antigen 1 |
Synonyms |
Ctag3, CAGE1, 4933427I01Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R9587 (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 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
T |
A |
5: 4,119,149 (GRCm39) |
L3552Q |
probably damaging |
Het |
Atat1 |
T |
C |
17: 36,209,182 (GRCm39) |
E353G |
probably benign |
Het |
Banf2 |
A |
G |
2: 143,907,452 (GRCm39) |
K42R |
probably damaging |
Het |
Cabp7 |
T |
A |
11: 4,688,865 (GRCm39) |
M202L |
probably damaging |
Het |
Caprin2 |
A |
G |
6: 148,770,500 (GRCm39) |
V498A |
probably benign |
Het |
Cfap161 |
A |
G |
7: 83,440,878 (GRCm39) |
F150L |
probably damaging |
Het |
Cyb5r1 |
G |
A |
1: 134,335,387 (GRCm39) |
G141R |
probably damaging |
Het |
Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
Dnah9 |
T |
C |
11: 65,999,217 (GRCm39) |
Q974R |
probably null |
Het |
Eps8l3 |
G |
A |
3: 107,798,683 (GRCm39) |
R523Q |
probably benign |
Het |
Ext1 |
T |
C |
15: 52,955,808 (GRCm39) |
I430V |
possibly damaging |
Het |
Gga3 |
T |
C |
11: 115,481,717 (GRCm39) |
K202R |
probably damaging |
Het |
Gm11567 |
T |
C |
11: 99,770,136 (GRCm39) |
W25R |
unknown |
Het |
Gpr3 |
G |
A |
4: 132,937,988 (GRCm39) |
A228V |
probably damaging |
Het |
Krt10 |
T |
C |
11: 99,277,420 (GRCm39) |
D426G |
possibly damaging |
Het |
Krt24 |
T |
A |
11: 99,174,453 (GRCm39) |
I205F |
probably damaging |
Het |
Krt33a |
T |
C |
11: 99,906,733 (GRCm39) |
N81D |
probably damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,847,277 (GRCm39) |
S505P |
possibly damaging |
Het |
Matr3 |
A |
G |
18: 35,717,876 (GRCm39) |
D696G |
probably null |
Het |
Mov10 |
C |
T |
3: 104,711,899 (GRCm39) |
G158S |
probably benign |
Het |
Myh1 |
T |
A |
11: 67,102,196 (GRCm39) |
M829K |
probably benign |
Het |
Ncam2 |
T |
C |
16: 81,262,501 (GRCm39) |
V318A |
probably benign |
Het |
Ndufv3 |
A |
G |
17: 31,747,106 (GRCm39) |
E332G |
probably benign |
Het |
Ngdn |
C |
T |
14: 55,254,578 (GRCm39) |
T43M |
probably benign |
Het |
Nop2 |
T |
A |
6: 125,117,785 (GRCm39) |
D445E |
probably damaging |
Het |
Or2y17 |
C |
T |
11: 49,232,007 (GRCm39) |
S216F |
probably benign |
Het |
Or3a10 |
G |
A |
11: 73,935,360 (GRCm39) |
H247Y |
probably damaging |
Het |
Or5w17 |
A |
T |
2: 87,584,184 (GRCm39) |
M51K |
possibly damaging |
Het |
Or8u8 |
A |
T |
2: 86,011,564 (GRCm39) |
V297E |
probably damaging |
Het |
Prl2b1 |
G |
A |
13: 27,567,601 (GRCm39) |
A181V |
probably benign |
Het |
Ptprg |
T |
A |
14: 12,215,992 (GRCm38) |
L1147Q |
probably damaging |
Het |
Rubcn |
T |
C |
16: 32,663,679 (GRCm39) |
D319G |
probably damaging |
Het |
Sfswap |
G |
A |
5: 129,618,427 (GRCm39) |
D454N |
probably benign |
Het |
Slc38a6 |
G |
T |
12: 73,388,513 (GRCm39) |
K242N |
probably benign |
Het |
Tmigd3 |
A |
G |
3: 105,824,088 (GRCm39) |
D19G |
probably damaging |
Het |
Trim36 |
T |
C |
18: 46,308,722 (GRCm39) |
E380G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,624,976 (GRCm39) |
I15201F |
probably damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,239,322 (GRCm39) |
S414P |
probably damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,214,936 (GRCm39) |
K306N |
possibly damaging |
Het |
Wdfy4 |
A |
T |
14: 32,769,230 (GRCm39) |
Y2232* |
probably null |
Het |
Wdr53 |
A |
G |
16: 32,075,830 (GRCm39) |
D345G |
probably damaging |
Het |
Zfp26 |
G |
A |
9: 20,348,213 (GRCm39) |
R784C |
probably damaging |
Het |
Zfp58 |
A |
T |
13: 67,639,823 (GRCm39) |
C223S |
probably damaging |
Het |
Zfp618 |
A |
G |
4: 63,051,916 (GRCm39) |
H899R |
|
Het |
Zfp963 |
A |
G |
8: 70,195,692 (GRCm39) |
Y254H |
probably benign |
Het |
Zfp994 |
T |
C |
17: 22,421,764 (GRCm39) |
D17G |
probably 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 |
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 |
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'- TCCTGCAGATCCTGAAGTTTC -3'
(R):5'- TTCTGGAGAGATTTCTGAGCTATC -3'
Sequencing Primer
(F):5'- TGATGTCATTCTTCTCTAGGATTACG -3'
(R):5'- CTGAGCTATCAGTTAGTCACCAGG -3'
|
Posted On |
2022-08-09 |