Incidental Mutation 'R9146:Cage1'
| ID |
694659 |
| 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 # |
R9146 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
38190028-38221045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38207005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 280
(D280G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074969]
[ENSMUST00000089840]
[ENSMUST00000110233]
[ENSMUST00000131066]
|
| AlphaFold |
Q5IR70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074969
AA Change: D386G
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
AA Change: D386G
| 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 benign
Transcript: ENSMUST00000089840
AA Change: D280G
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000087278
Gene: ENSMUSG00000044566
AA Change: D280G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAGE1
|
1 |
420 |
6.8e-230 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110233
AA Change: D386G
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
AA Change: D386G
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
G |
A |
5: 137,289,077 (GRCm39) |
G261D |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,561,291 (GRCm39) |
T5408S |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,359,200 (GRCm39) |
N362D |
probably benign |
Het |
| Aff4 |
A |
G |
11: 53,298,963 (GRCm39) |
N956S |
probably benign |
Het |
| Alg10b |
A |
G |
15: 90,112,401 (GRCm39) |
E415G |
probably damaging |
Het |
| Ate1 |
T |
C |
7: 130,069,022 (GRCm39) |
Y415C |
probably damaging |
Het |
| Catsperg1 |
G |
C |
7: 28,909,912 (GRCm39) |
P72R |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,377,665 (GRCm39) |
E1565G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,048,832 (GRCm39) |
Y2290F |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,527,344 (GRCm39) |
H230L |
|
Het |
| Efhb |
A |
G |
17: 53,769,644 (GRCm39) |
S222P |
probably benign |
Het |
| Emilin2 |
G |
A |
17: 71,581,331 (GRCm39) |
T465M |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,849,635 (GRCm39) |
Y1431* |
probably null |
Het |
| Gm10912 |
T |
C |
2: 103,897,053 (GRCm39) |
V64A |
possibly damaging |
Het |
| Gpat2 |
T |
C |
2: 127,273,206 (GRCm39) |
S197P |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,924,571 (GRCm39) |
Y452C |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,487,097 (GRCm39) |
I3364T |
probably benign |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,474,141 (GRCm39) |
T4767M |
probably benign |
Het |
| Hspa4l |
A |
G |
3: 40,736,101 (GRCm39) |
D595G |
probably benign |
Het |
| Kdm1a |
G |
T |
4: 136,329,739 (GRCm39) |
T53K |
unknown |
Het |
| Kirrel1 |
T |
C |
3: 87,003,015 (GRCm39) |
D126G |
probably damaging |
Het |
| Kit |
T |
A |
5: 75,810,305 (GRCm39) |
D822E |
probably damaging |
Het |
| Kiz |
C |
T |
2: 146,705,740 (GRCm39) |
T100M |
probably benign |
Het |
| Kmt2a |
T |
A |
9: 44,725,938 (GRCm39) |
K3663* |
probably null |
Het |
| Krt8 |
T |
A |
15: 101,907,370 (GRCm39) |
I238F |
probably damaging |
Het |
| Ky |
C |
T |
9: 102,419,405 (GRCm39) |
P471S |
|
Het |
| Lca5l |
T |
C |
16: 95,960,998 (GRCm39) |
E493G |
probably damaging |
Het |
| Lrrc2 |
C |
T |
9: 110,808,582 (GRCm39) |
T273I |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,869,303 (GRCm39) |
S31P |
probably benign |
Het |
| Mmp1a |
A |
G |
9: 7,464,997 (GRCm39) |
D77G |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,039,200 (GRCm39) |
C290* |
probably null |
Het |
| Nfe2l3 |
G |
T |
6: 51,410,172 (GRCm39) |
A96S |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,011,854 (GRCm39) |
D624G |
probably damaging |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or52n2 |
T |
A |
7: 104,542,452 (GRCm39) |
I128F |
probably damaging |
Het |
| Or6c7 |
T |
C |
10: 129,323,392 (GRCm39) |
V171A |
possibly damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,334,351 (GRCm39) |
A222T |
probably benign |
Het |
| Piezo1 |
G |
A |
8: 123,227,002 (GRCm39) |
H420Y |
|
Het |
| Pik3r1 |
C |
A |
13: 101,825,136 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
T |
A |
2: 135,182,615 (GRCm39) |
Y642N |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,184,252 (GRCm39) |
H1538L |
probably benign |
Het |
| Raph1 |
A |
G |
1: 60,558,137 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,334,499 (GRCm39) |
F3237S |
|
Het |
| Sctr |
A |
G |
1: 119,982,010 (GRCm39) |
D286G |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 178,920,529 (GRCm39) |
S202P |
probably damaging |
Het |
| Ssh2 |
G |
A |
11: 77,328,502 (GRCm39) |
G356E |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,784,492 (GRCm39) |
S629R |
probably benign |
Het |
| Stc2 |
A |
G |
11: 31,317,847 (GRCm39) |
V58A |
probably damaging |
Het |
| Tcerg1l |
T |
A |
7: 137,831,588 (GRCm39) |
D463V |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,389,745 (GRCm39) |
V259A |
possibly damaging |
Het |
| Tmem248 |
A |
G |
5: 130,260,851 (GRCm39) |
T139A |
probably benign |
Het |
| Trip12 |
G |
T |
1: 84,771,881 (GRCm39) |
A89E |
possibly damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,366,647 (GRCm39) |
V96I |
probably benign |
Het |
| Vmn2r79 |
C |
T |
7: 86,650,681 (GRCm39) |
Q156* |
probably null |
Het |
| Zfp831 |
C |
A |
2: 174,487,461 (GRCm39) |
T712N |
possibly damaging |
Het |
| Zfy1 |
A |
T |
Y: 726,033 (GRCm39) |
H577Q |
possibly damaging |
Het |
| Zscan4-ps2 |
T |
G |
7: 11,251,679 (GRCm39) |
S238R |
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 |
|
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 |
|
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'- GACTGGCCGATCTGTTCTTCTG -3'
(R):5'- GCTTAGAGCCTCTGGAAGAG -3'
Sequencing Primer
(F):5'- GATCTGTTCTTCTGCTGGATCTCAG -3'
(R):5'- TCTGGAAGAGGACATGGCTTTAAATG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation