Incidental Mutation 'R9690:Cage1'
| ID |
729117 |
| 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 # |
R9690 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
38190028-38221045 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 38203141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074969]
[ENSMUST00000089840]
[ENSMUST00000110233]
[ENSMUST00000131066]
|
| AlphaFold |
Q5IR70 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074969
|
| SMART Domains |
Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
| 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
|
| SMART Domains |
Protein: ENSMUSP00000087278
Gene: ENSMUSG00000044566
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAGE1
|
1 |
420 |
6.8e-230 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110233
|
| SMART Domains |
Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI182371 |
T |
A |
2: 34,990,600 (GRCm39) |
E22D |
probably benign |
Het |
| Apbb2 |
C |
T |
5: 66,609,521 (GRCm39) |
R42H |
probably damaging |
Het |
| Atf2 |
A |
T |
2: 73,675,813 (GRCm39) |
S179R |
probably benign |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,503,300 (GRCm39) |
T135A |
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,460,345 (GRCm39) |
T696A |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,725,950 (GRCm39) |
S28T |
probably benign |
Het |
| Ddx59 |
T |
A |
1: 136,352,540 (GRCm39) |
I327K |
probably damaging |
Het |
| Ep300 |
A |
C |
15: 81,520,396 (GRCm39) |
Q1229P |
unknown |
Het |
| Epb41l1 |
A |
T |
2: 156,356,038 (GRCm39) |
I525F |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fam83b |
A |
G |
9: 76,398,502 (GRCm39) |
I867T |
probably benign |
Het |
| Gapvd1 |
C |
T |
2: 34,618,492 (GRCm39) |
V294I |
probably damaging |
Het |
| Gm5798 |
T |
G |
14: 41,070,596 (GRCm39) |
F2C |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Irgq |
G |
T |
7: 24,233,580 (GRCm39) |
A474S |
probably benign |
Het |
| Itih3 |
T |
C |
14: 30,640,264 (GRCm39) |
K348R |
probably benign |
Het |
| Kcnip4 |
T |
A |
5: 48,555,846 (GRCm39) |
N154I |
probably damaging |
Het |
| Letm2 |
T |
A |
8: 26,077,435 (GRCm39) |
K218N |
probably damaging |
Het |
| Mak16 |
T |
C |
8: 31,650,798 (GRCm39) |
S231G |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,169,670 (GRCm39) |
I1898K |
probably damaging |
Het |
| Mtcl2 |
A |
T |
2: 156,862,134 (GRCm39) |
D1598E |
probably benign |
Het |
| Myh13 |
C |
T |
11: 67,249,194 (GRCm39) |
L1305F |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,108,204 (GRCm39) |
Y1104H |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,890,593 (GRCm39) |
L115F |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,890,594 (GRCm39) |
K116* |
probably null |
Het |
| Or1j11 |
T |
A |
2: 36,311,530 (GRCm39) |
L40Q |
probably damaging |
Het |
| Or4k35 |
C |
T |
2: 111,099,822 (GRCm39) |
A297T |
probably damaging |
Het |
| Or5w22 |
C |
A |
2: 87,362,759 (GRCm39) |
N127K |
probably benign |
Het |
| Or8b3b |
C |
A |
9: 38,584,477 (GRCm39) |
E88* |
probably null |
Het |
| Pals1 |
T |
A |
12: 78,866,117 (GRCm39) |
V314D |
probably damaging |
Het |
| Proc |
C |
T |
18: 32,256,371 (GRCm39) |
G432D |
probably damaging |
Het |
| Ptpn20 |
T |
C |
14: 33,353,176 (GRCm39) |
V305A |
probably benign |
Het |
| Rmnd5b |
T |
C |
11: 51,518,511 (GRCm39) |
M122V |
probably benign |
Het |
| Sema4f |
A |
T |
6: 82,912,652 (GRCm39) |
N130K |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,996 (GRCm39) |
I114V |
probably benign |
Het |
| Spata16 |
A |
T |
3: 26,967,432 (GRCm39) |
D394V |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,958,649 (GRCm39) |
T38A |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,936,171 (GRCm39) |
Y2703H |
probably damaging |
Het |
| Trmt11 |
A |
C |
10: 30,436,938 (GRCm39) |
D267E |
probably damaging |
Het |
| Tspyl5 |
C |
A |
15: 33,687,433 (GRCm39) |
A171S |
probably benign |
Het |
| Uchl5 |
T |
C |
1: 143,670,016 (GRCm39) |
V83A |
|
Het |
| Vmn1r87 |
A |
G |
7: 12,866,263 (GRCm39) |
I8T |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,912 (GRCm39) |
S636P |
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 |
|
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 |
|
R9736:Cage1
|
UTSW |
13 |
38,207,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGATGGCTAGTTACTATCCTTGTTCC -3'
(R):5'- ATCCGAATTGTGCACATGTAGG -3'
Sequencing Primer
(F):5'- CCATCTGACTACAATCACTTGTTAG -3'
(R):5'- TTGTGCACATGTAGGAGACAAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation