Incidental Mutation 'R9736:Cage1'
| ID |
731682 |
| 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: 0.105)
|
| Stock # |
R9736 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
38190028-38221045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 38207393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 151
(S151A)
|
| 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: S257A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
AA Change: S257A
| 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 damaging
Transcript: ENSMUST00000089840
AA Change: S151A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087278
Gene: ENSMUSG00000044566
AA Change: S151A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAGE1
|
1 |
420 |
6.8e-230 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110233
AA Change: S257A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
AA Change: S257A
| 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
AA Change: S257A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122393
Gene: ENSMUSG00000044566
AA Change: S257A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAGE1
|
1 |
318 |
6.5e-167 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
G |
17: 43,022,212 (GRCm39) |
I204T |
probably benign |
Het |
| Apc |
T |
A |
18: 34,450,823 (GRCm39) |
I2573N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,891,733 (GRCm39) |
D1204G |
probably damaging |
Het |
| Atp10a |
T |
A |
7: 58,474,078 (GRCm39) |
F1122I |
probably damaging |
Het |
| Calhm2 |
G |
A |
19: 47,121,597 (GRCm39) |
L191F |
probably benign |
Het |
| Cd109 |
C |
T |
9: 78,619,918 (GRCm39) |
P1387S |
probably damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,872,041 (GRCm39) |
L635S |
possibly damaging |
Het |
| Cntfr |
T |
C |
4: 41,658,290 (GRCm39) |
T357A |
unknown |
Het |
| Cpox |
A |
G |
16: 58,494,746 (GRCm39) |
N261S |
probably benign |
Het |
| Crygb |
A |
T |
1: 65,119,707 (GRCm39) |
M91K |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,442,430 (GRCm39) |
K634R |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dmgdh |
T |
G |
13: 93,843,158 (GRCm39) |
F331L |
possibly damaging |
Het |
| Dpp10 |
T |
A |
1: 123,262,088 (GRCm39) |
I765F |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,194,751 (GRCm39) |
D1096V |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,059,597 (GRCm39) |
T696I |
probably damaging |
Het |
| Gopc |
A |
T |
10: 52,229,558 (GRCm39) |
D220E |
possibly damaging |
Het |
| Grin3a |
C |
A |
4: 49,672,472 (GRCm39) |
|
probably null |
Het |
| Gsdma |
C |
T |
11: 98,567,169 (GRCm39) |
P423L |
probably damaging |
Het |
| Gucy2d |
G |
A |
7: 98,092,683 (GRCm39) |
W20* |
probably null |
Het |
| Irs2 |
G |
A |
8: 11,058,217 (GRCm39) |
R72W |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,157,929 (GRCm39) |
I1421V |
unknown |
Het |
| Mab21l4 |
A |
G |
1: 93,087,661 (GRCm39) |
V64A |
probably damaging |
Het |
| Micu1 |
C |
T |
10: 59,699,123 (GRCm39) |
Q467* |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,434,852 (GRCm39) |
V2197A |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,063,999 (GRCm39) |
S20P |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,951,600 (GRCm39) |
I210M |
probably damaging |
Het |
| Or4k45 |
A |
T |
2: 111,395,626 (GRCm39) |
H54Q |
probably benign |
Het |
| Or5al5 |
T |
A |
2: 85,961,640 (GRCm39) |
R122S |
probably damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,920 (GRCm39) |
I35N |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,339 (GRCm39) |
V227A |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,797,411 (GRCm39) |
I1309K |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 66,997,562 (GRCm39) |
Y1178F |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,619,988 (GRCm39) |
S185P |
probably benign |
Het |
| Wdr37 |
C |
A |
13: 8,911,136 (GRCm39) |
M42I |
probably benign |
Het |
| Wwp1 |
T |
A |
4: 19,631,202 (GRCm39) |
E610D |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 74,968,741 (GRCm39) |
F572L |
unknown |
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 |
|
R9690:Cage1
|
UTSW |
13 |
38,203,141 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCCATGTCCTCTTCCAGAG -3'
(R):5'- GCCCCATATATGTGACCAGG -3'
Sequencing Primer
(F):5'- CTCTTCCAGAGGCTCTAAGC -3'
(R):5'- GTGACAGTCCGTAGAACTTTTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation