Incidental Mutation 'R4490:Cage1'
| ID |
330692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cage1
|
| Ensembl Gene |
ENSMUSG00000044566 |
| Gene Name |
cancer antigen 1 |
| Synonyms |
Ctag3, CAGE1, 4933427I01Rik |
| MMRRC Submission |
041746-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R4490 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
38190028-38221045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38207393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 257
(S257P)
|
| 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: S257P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
AA Change: S257P
| 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 |
possibly damaging
Transcript: ENSMUST00000089840
AA Change: S151P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000087278
Gene: ENSMUSG00000044566
AA Change: S151P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAGE1
|
1 |
420 |
6.8e-230 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110233
AA Change: S257P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
AA Change: S257P
| 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: S257P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122393
Gene: ENSMUSG00000044566
AA Change: S257P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAGE1
|
1 |
318 |
6.5e-167 |
PFAM |
|
| Meta Mutation Damage Score |
0.1341 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,461,349 (GRCm39) |
V417A |
probably damaging |
Het |
| Adgrb2 |
T |
C |
4: 129,906,121 (GRCm39) |
V881A |
possibly damaging |
Het |
| Arl5c |
G |
A |
11: 97,886,662 (GRCm39) |
R10* |
probably null |
Het |
| Atad1 |
A |
G |
19: 32,673,197 (GRCm39) |
C229R |
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,784,674 (GRCm39) |
V319A |
probably damaging |
Het |
| Ccndbp1 |
A |
G |
2: 120,842,876 (GRCm39) |
D179G |
probably damaging |
Het |
| Cngb3 |
T |
C |
4: 19,415,684 (GRCm39) |
I398T |
probably benign |
Het |
| Crmp1 |
A |
G |
5: 37,433,675 (GRCm39) |
D178G |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 48,177,429 (GRCm39) |
V370I |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,865,942 (GRCm39) |
T180A |
probably benign |
Het |
| Dmtf1 |
A |
G |
5: 9,190,379 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,455,758 (GRCm39) |
L827S |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,044,964 (GRCm39) |
V2084A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,018,928 (GRCm39) |
S476T |
possibly damaging |
Het |
| Far2 |
T |
C |
6: 148,074,907 (GRCm39) |
L380P |
possibly damaging |
Het |
| Gbp2 |
A |
G |
3: 142,329,525 (GRCm39) |
N24S |
probably benign |
Het |
| Gm14325 |
T |
C |
2: 177,474,776 (GRCm39) |
H101R |
possibly damaging |
Het |
| Gpr55 |
C |
T |
1: 85,869,540 (GRCm39) |
V14M |
probably damaging |
Het |
| Herc6 |
A |
T |
6: 57,631,480 (GRCm39) |
Y724F |
probably damaging |
Het |
| Impg1 |
T |
A |
9: 80,301,341 (GRCm39) |
Q195L |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,566,638 (GRCm39) |
F68L |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,268,905 (GRCm39) |
|
probably null |
Het |
| Klb |
A |
G |
5: 65,533,137 (GRCm39) |
N482S |
probably benign |
Het |
| Kpnb1 |
A |
G |
11: 97,062,424 (GRCm39) |
V447A |
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,324,011 (GRCm39) |
P831S |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,113,879 (GRCm39) |
|
probably null |
Het |
| Or4b1d |
A |
T |
2: 89,969,261 (GRCm39) |
V74D |
probably damaging |
Het |
| Pgm3 |
T |
C |
9: 86,443,893 (GRCm39) |
Y337C |
probably damaging |
Het |
| Prdm1 |
G |
T |
10: 44,322,903 (GRCm39) |
Y197* |
probably null |
Het |
| Prdm4 |
A |
T |
10: 85,736,763 (GRCm39) |
C626S |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
| Ranbp6 |
A |
G |
19: 29,787,733 (GRCm39) |
L873P |
probably damaging |
Het |
| Rin2 |
A |
G |
2: 145,664,194 (GRCm39) |
T23A |
possibly damaging |
Het |
| Rxra |
G |
T |
2: 27,631,207 (GRCm39) |
R118L |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,202,476 (GRCm39) |
L750P |
probably damaging |
Het |
| Trpm1 |
C |
T |
7: 63,858,660 (GRCm39) |
Q228* |
probably null |
Het |
| Tsc1 |
A |
G |
2: 28,560,937 (GRCm39) |
D265G |
probably damaging |
Het |
| Usp29 |
T |
C |
7: 6,964,949 (GRCm39) |
I264T |
possibly damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,027,697 (GRCm39) |
L479P |
possibly damaging |
Het |
| Zfp9 |
A |
G |
6: 118,442,273 (GRCm39) |
S130P |
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 |
|
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 |
|
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'- ATTTAAAGCCATGTCCTCTTCCAG -3'
(R):5'- TGTGACCAGGAAGTTTACACAG -3'
Sequencing Primer
(F):5'- CTCTTCCAGAGGCTCTAAGC -3'
(R):5'- GTGACAGTCCGTAGAACTTTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation