Incidental Mutation 'R6278:Cage1'
ID |
507794 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cage1
|
Ensembl Gene |
ENSMUSG00000044566 |
Gene Name |
cancer antigen 1 |
Synonyms |
Ctag3, CAGE1, 4933427I01Rik |
MMRRC Submission |
044448-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R6278 (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 38200395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 702
(T702A)
|
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: T702A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000074499 Gene: ENSMUSG00000044566 AA Change: T702A
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: T702A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000105862 Gene: ENSMUSG00000044566 AA Change: T702A
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
T |
C |
7: 119,373,072 (GRCm39) |
S192P |
probably damaging |
Het |
Amy1 |
T |
A |
3: 113,355,339 (GRCm39) |
Y348F |
probably damaging |
Het |
Brpf3 |
C |
A |
17: 29,040,258 (GRCm39) |
P893H |
probably benign |
Het |
Cdk11b |
A |
G |
4: 155,734,060 (GRCm39) |
|
probably benign |
Het |
Cdk5rap3 |
T |
C |
11: 96,802,729 (GRCm39) |
Y207C |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,183,394 (GRCm39) |
K465R |
probably damaging |
Het |
Cldn14 |
A |
C |
16: 93,716,486 (GRCm39) |
L120R |
possibly damaging |
Het |
Cyp2c69 |
A |
T |
19: 39,831,507 (GRCm39) |
C435* |
probably null |
Het |
Dmxl2 |
T |
A |
9: 54,323,046 (GRCm39) |
E1446V |
probably damaging |
Het |
Dnah17 |
T |
A |
11: 118,017,116 (GRCm39) |
D208V |
probably damaging |
Het |
Eif4g3 |
G |
T |
4: 137,915,394 (GRCm39) |
G1430V |
possibly damaging |
Het |
Eif5 |
T |
A |
12: 111,509,227 (GRCm39) |
D284E |
probably benign |
Het |
Fam47e |
T |
C |
5: 92,710,376 (GRCm39) |
L125P |
probably damaging |
Het |
Far1 |
A |
G |
7: 113,167,344 (GRCm39) |
I476M |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,819,242 (GRCm39) |
I4992L |
probably benign |
Het |
Gli3 |
T |
A |
13: 15,899,698 (GRCm39) |
N1028K |
possibly damaging |
Het |
Gucy1a1 |
T |
C |
3: 82,004,941 (GRCm39) |
K615E |
probably damaging |
Het |
Gykl1 |
G |
T |
18: 52,828,280 (GRCm39) |
S496I |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,573,170 (GRCm39) |
|
probably null |
Het |
Itga2 |
T |
A |
13: 114,982,424 (GRCm39) |
H1027L |
probably benign |
Het |
Kif24 |
A |
T |
4: 41,423,498 (GRCm39) |
V251E |
probably damaging |
Het |
Nupr1 |
T |
C |
7: 126,224,518 (GRCm39) |
Y30C |
probably damaging |
Het |
Or5b119 |
T |
A |
19: 13,457,119 (GRCm39) |
M148L |
probably benign |
Het |
Or5g29 |
A |
G |
2: 85,421,342 (GRCm39) |
I153V |
probably benign |
Het |
Or5w14 |
A |
T |
2: 87,541,815 (GRCm39) |
L145* |
probably null |
Het |
Or8g26 |
T |
A |
9: 39,095,594 (GRCm39) |
I40N |
probably damaging |
Het |
P2ry1 |
T |
A |
3: 60,911,215 (GRCm39) |
I118N |
possibly damaging |
Het |
Pcdh1 |
C |
T |
18: 38,332,263 (GRCm39) |
V247M |
probably benign |
Het |
Pdia5 |
A |
G |
16: 35,250,293 (GRCm39) |
V222A |
possibly damaging |
Het |
Plce1 |
G |
A |
19: 38,713,495 (GRCm39) |
|
probably null |
Het |
Ppm1m |
T |
C |
9: 106,074,427 (GRCm39) |
R239G |
probably damaging |
Het |
Pramel30 |
C |
T |
4: 144,056,837 (GRCm39) |
P7S |
probably damaging |
Het |
Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
Rpl6 |
T |
C |
5: 121,346,912 (GRCm39) |
I269T |
possibly damaging |
Het |
Scoc |
T |
C |
8: 84,184,965 (GRCm39) |
S2G |
unknown |
Het |
Spesp1 |
A |
T |
9: 62,179,921 (GRCm39) |
M329K |
probably benign |
Het |
Ston2 |
T |
C |
12: 91,615,104 (GRCm39) |
K435E |
probably damaging |
Het |
Synj2 |
A |
T |
17: 6,026,149 (GRCm39) |
L69F |
probably damaging |
Het |
Tigd5 |
T |
C |
15: 75,781,842 (GRCm39) |
I68T |
probably damaging |
Het |
Tmcc2 |
A |
T |
1: 132,286,720 (GRCm39) |
M577K |
probably damaging |
Het |
Tmem131l |
A |
T |
3: 83,849,798 (GRCm39) |
I263N |
possibly damaging |
Het |
Trip13 |
T |
C |
13: 74,061,439 (GRCm39) |
E408G |
probably benign |
Het |
Txnl4b |
T |
C |
8: 110,295,735 (GRCm39) |
|
probably null |
Het |
Ube2o |
T |
C |
11: 116,430,369 (GRCm39) |
E1123G |
probably damaging |
Het |
Vmn1r123 |
A |
G |
7: 20,896,774 (GRCm39) |
H222R |
possibly damaging |
Het |
Vmn2r73 |
G |
T |
7: 85,522,140 (GRCm39) |
H66Q |
probably benign |
Het |
Zc3h13 |
T |
A |
14: 75,567,863 (GRCm39) |
V1052D |
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 |
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 |
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'- TATGAGGCTGGAGTCATAGAAATAC -3'
(R):5'- GAAACTCTTCGTCATGGAAGTGG -3'
Sequencing Primer
(F):5'- TACAGAACTTGCCAGTGGATG -3'
(R):5'- AAAAACAGAATTGCGACTC -3'
|
Posted On |
2018-03-15 |