Incidental Mutation 'R1015:Cage1'
| ID |
96198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cage1
|
| Ensembl Gene |
ENSMUSG00000044566 |
| Gene Name |
cancer antigen 1 |
| Synonyms |
Ctag3, CAGE1, 4933427I01Rik |
| MMRRC Submission |
039119-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R1015 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
38190028-38221045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38200451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 683
(N683I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074969]
[ENSMUST00000089840]
[ENSMUST00000110233]
|
| AlphaFold |
Q5IR70 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074969
AA Change: N683I
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
AA Change: N683I
| 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 |
possibly damaging
Transcript: ENSMUST00000110233
AA Change: N683I
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
AA Change: N683I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3d1 |
A |
G |
10: 80,552,323 (GRCm39) |
V615A |
probably damaging |
Het |
| Atp6v1d |
A |
G |
12: 78,896,543 (GRCm39) |
V108A |
possibly damaging |
Het |
| B3gnt6 |
C |
A |
7: 97,843,802 (GRCm39) |
V53L |
probably benign |
Het |
| C8b |
A |
G |
4: 104,644,157 (GRCm39) |
K275E |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,710,375 (GRCm39) |
V1535A |
probably benign |
Het |
| Cep120 |
C |
T |
18: 53,836,193 (GRCm39) |
|
probably null |
Het |
| Cep135 |
T |
C |
5: 76,788,844 (GRCm39) |
|
probably null |
Het |
| Chd9 |
T |
A |
8: 91,659,206 (GRCm39) |
H55Q |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,275,049 (GRCm39) |
T2915I |
probably benign |
Het |
| Eps8l1 |
A |
T |
7: 4,472,932 (GRCm39) |
D118V |
probably damaging |
Het |
| Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
| Galnt2 |
C |
T |
8: 125,063,356 (GRCm39) |
H359Y |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 941,687 (GRCm39) |
V1296A |
possibly damaging |
Het |
| Kif27 |
T |
A |
13: 58,468,029 (GRCm39) |
K849N |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,634,377 (GRCm39) |
D736E |
probably benign |
Het |
| Krt18 |
T |
C |
15: 101,939,735 (GRCm39) |
I311T |
probably benign |
Het |
| Lamc2 |
A |
T |
1: 153,041,945 (GRCm39) |
V63D |
possibly damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,770,959 (GRCm39) |
C295* |
probably null |
Het |
| Lrrc37 |
T |
C |
11: 103,436,622 (GRCm39) |
H754R |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,116,126 (GRCm39) |
Q767H |
probably damaging |
Het |
| Mapkapk5 |
T |
C |
5: 121,671,425 (GRCm39) |
K203E |
probably benign |
Het |
| Mcc |
C |
A |
18: 44,857,736 (GRCm39) |
L126F |
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,726,409 (GRCm39) |
H35Q |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,440,183 (GRCm39) |
N412D |
probably benign |
Het |
| Ndst2 |
T |
C |
14: 20,780,132 (GRCm39) |
Y36C |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,964,154 (GRCm39) |
I1246T |
probably damaging |
Het |
| Or5d47 |
T |
C |
2: 87,804,431 (GRCm39) |
T193A |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,877,426 (GRCm39) |
I200T |
possibly damaging |
Het |
| Patl1 |
T |
C |
19: 11,897,737 (GRCm39) |
V108A |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,374,594 (GRCm39) |
E1847G |
probably damaging |
Het |
| Pla2g2f |
C |
T |
4: 138,481,579 (GRCm39) |
V57I |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,613,697 (GRCm39) |
V1083A |
probably damaging |
Het |
| Slc3a2 |
C |
T |
19: 8,685,319 (GRCm39) |
W227* |
probably null |
Het |
| Snx9 |
A |
G |
17: 5,970,402 (GRCm39) |
I379M |
probably benign |
Het |
| Spata31e4 |
T |
G |
13: 50,855,664 (GRCm39) |
V434G |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,225,795 (GRCm39) |
K846E |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,946,155 (GRCm39) |
V326E |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,612,748 (GRCm39) |
S462F |
possibly damaging |
Het |
| Trim66 |
C |
T |
7: 109,054,440 (GRCm39) |
V1257I |
probably damaging |
Het |
| Urb2 |
T |
C |
8: 124,756,173 (GRCm39) |
Y627H |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,727,408 (GRCm39) |
L1058P |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,047,212 (GRCm39) |
S702G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTAGAAGGACATTAGCAAAGTTGCC -3'
(R):5'- CGGGACTCAGCATTCAGCTAACTAGG -3'
Sequencing Primer
(F):5'- TTGCCAGGAGAAATGACTATCTGTG -3'
(R):5'- CATTTAAAGATTGGCCTTTGTGTT -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation