Incidental Mutation 'R9086:Cage1'
ID |
690625 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cage1
|
Ensembl Gene |
ENSMUSG00000044566 |
Gene Name |
cancer antigen 1 |
Synonyms |
Ctag3, CAGE1, 4933427I01Rik |
MMRRC Submission |
068905-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R9086 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
38190028-38221045 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 38206898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 316
(I316F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074969]
[ENSMUST00000089840]
[ENSMUST00000110233]
[ENSMUST00000131066]
|
AlphaFold |
Q5IR70 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074969
AA Change: I422F
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000074499 Gene: ENSMUSG00000044566 AA Change: I422F
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: I316F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000087278 Gene: ENSMUSG00000044566 AA Change: I316F
Domain | Start | End | E-Value | Type |
Pfam:CAGE1
|
1 |
420 |
6.8e-230 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110233
AA Change: I422F
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105862 Gene: ENSMUSG00000044566 AA Change: I422F
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 |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 109,992,879 (GRCm39) |
E1595G |
probably damaging |
Het |
Ank1 |
T |
C |
8: 23,589,636 (GRCm39) |
V608A |
probably damaging |
Het |
Arl14epl |
T |
C |
18: 47,065,661 (GRCm39) |
V142A |
possibly damaging |
Het |
Atp8a1 |
T |
C |
5: 67,932,159 (GRCm39) |
D210G |
|
Het |
Baz1b |
T |
C |
5: 135,260,538 (GRCm39) |
F1112L |
probably damaging |
Het |
Car2 |
A |
C |
3: 14,952,968 (GRCm39) |
T37P |
probably benign |
Het |
Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
Cntnap3 |
T |
A |
13: 64,929,573 (GRCm39) |
D542V |
probably damaging |
Het |
Coro1b |
T |
C |
19: 4,202,525 (GRCm39) |
Y338H |
probably damaging |
Het |
Ctdspl2 |
G |
A |
2: 121,838,298 (GRCm39) |
|
probably null |
Het |
Cyp2a12 |
T |
C |
7: 26,735,944 (GRCm39) |
F451S |
probably damaging |
Het |
Dpm2 |
T |
C |
2: 32,462,391 (GRCm39) |
L59P |
probably damaging |
Het |
Duoxa2 |
A |
G |
2: 122,131,821 (GRCm39) |
Y170C |
probably damaging |
Het |
Dus2 |
T |
A |
8: 106,742,573 (GRCm39) |
Y34* |
probably null |
Het |
Dzip3 |
A |
G |
16: 48,781,493 (GRCm39) |
I266T |
possibly damaging |
Het |
Ebf3 |
T |
C |
7: 136,800,994 (GRCm39) |
T455A |
possibly damaging |
Het |
Echdc2 |
C |
T |
4: 108,027,076 (GRCm39) |
Q74* |
probably null |
Het |
Efhc1 |
T |
C |
1: 21,025,592 (GRCm39) |
Y33H |
probably damaging |
Het |
Fam20a |
A |
T |
11: 109,566,754 (GRCm39) |
C378* |
probably null |
Het |
Fbxo25 |
C |
A |
8: 13,989,621 (GRCm39) |
P356Q |
probably damaging |
Het |
Fig4 |
G |
T |
10: 41,161,399 (GRCm39) |
T59K |
possibly damaging |
Het |
Gbp10 |
T |
A |
5: 105,366,369 (GRCm39) |
M512L |
probably benign |
Het |
Gdf10 |
T |
A |
14: 33,654,221 (GRCm39) |
Y243N |
probably damaging |
Het |
Golga5 |
T |
A |
12: 102,458,476 (GRCm39) |
S640T |
probably benign |
Het |
H1f9 |
A |
T |
11: 94,859,083 (GRCm39) |
K126M |
possibly damaging |
Het |
Ints1 |
A |
T |
5: 139,743,947 (GRCm39) |
H1540Q |
probably benign |
Het |
Lipo3 |
A |
T |
19: 33,534,529 (GRCm39) |
L310Q |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,640,051 (GRCm39) |
K1532R |
probably benign |
Het |
Ltc4s |
T |
C |
11: 50,128,074 (GRCm39) |
Y59C |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,377,944 (GRCm39) |
H1427L |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,982,754 (GRCm39) |
|
probably null |
Het |
Mthfd1l |
A |
T |
10: 3,923,412 (GRCm39) |
D53V |
probably benign |
Het |
Muc4 |
C |
A |
16: 32,577,842 (GRCm39) |
P303Q |
|
Het |
Nrxn1 |
A |
G |
17: 90,469,792 (GRCm39) |
F1293S |
probably damaging |
Het |
Nrxn2 |
G |
A |
19: 6,540,108 (GRCm39) |
E803K |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,177,830 (GRCm39) |
D1071G |
possibly damaging |
Het |
Or1l4b |
T |
A |
2: 37,036,426 (GRCm39) |
D67E |
probably damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,126 (GRCm39) |
I181N |
probably benign |
Het |
Or2ak6 |
T |
A |
11: 58,592,955 (GRCm39) |
S143T |
possibly damaging |
Het |
Papln |
A |
G |
12: 83,821,633 (GRCm39) |
E287G |
probably damaging |
Het |
Pex13 |
C |
A |
11: 23,615,760 (GRCm39) |
G29C |
probably damaging |
Het |
Phrf1 |
C |
A |
7: 140,839,412 (GRCm39) |
T869K |
unknown |
Het |
Pitrm1 |
A |
G |
13: 6,627,517 (GRCm39) |
T912A |
probably benign |
Het |
Pla2g4c |
A |
G |
7: 13,071,692 (GRCm39) |
K171E |
probably benign |
Het |
Pnpla7 |
A |
T |
2: 24,929,709 (GRCm39) |
T833S |
probably damaging |
Het |
Por |
G |
T |
5: 135,744,918 (GRCm39) |
|
probably null |
Het |
Rab3ip |
G |
A |
10: 116,775,310 (GRCm39) |
S16L |
probably damaging |
Het |
Rabgef1 |
A |
T |
5: 130,240,792 (GRCm39) |
I304F |
probably benign |
Het |
Rbbp8 |
T |
C |
18: 11,875,736 (GRCm39) |
V883A |
possibly damaging |
Het |
Rnase4 |
A |
G |
14: 51,342,429 (GRCm39) |
D51G |
possibly damaging |
Het |
Rnf13 |
A |
C |
3: 57,740,997 (GRCm39) |
D291A |
probably benign |
Het |
Rps6kb2 |
A |
T |
19: 4,209,270 (GRCm39) |
I191N |
probably damaging |
Het |
Scn1a |
A |
G |
2: 66,181,358 (GRCm39) |
L55S |
probably benign |
Het |
Son |
T |
A |
16: 91,467,418 (GRCm39) |
F2260I |
unknown |
Het |
Spata31h1 |
C |
T |
10: 82,124,577 (GRCm39) |
S2811N |
probably benign |
Het |
Ssr1 |
A |
G |
13: 38,167,449 (GRCm39) |
I238T |
probably benign |
Het |
Stk11ip |
A |
G |
1: 75,506,818 (GRCm39) |
E633G |
possibly damaging |
Het |
Svs3a |
A |
G |
2: 164,132,062 (GRCm39) |
Y211C |
probably benign |
Het |
Sytl1 |
T |
A |
4: 132,988,175 (GRCm39) |
E60D |
possibly damaging |
Het |
Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
Tlr1 |
T |
C |
5: 65,083,198 (GRCm39) |
I460V |
probably damaging |
Het |
Tmem64 |
T |
C |
4: 15,266,718 (GRCm39) |
I256T |
probably damaging |
Het |
Ttll5 |
G |
A |
12: 85,964,516 (GRCm39) |
A553T |
possibly damaging |
Het |
Ttll5 |
A |
T |
12: 86,071,107 (GRCm39) |
T1327S |
probably benign |
Het |
Upp2 |
T |
A |
2: 58,680,177 (GRCm39) |
C334* |
probably null |
Het |
Wdr74 |
C |
A |
19: 8,713,358 (GRCm39) |
N24K |
possibly damaging |
Het |
Zbtb42 |
G |
A |
12: 112,645,848 (GRCm39) |
V8I |
probably benign |
Het |
Zfp541 |
T |
A |
7: 15,824,329 (GRCm39) |
L1078Q |
probably damaging |
Het |
Zfr2 |
T |
C |
10: 81,076,029 (GRCm39) |
V212A |
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 |
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'- TGGAATTCCTCCTGAAAAGACAAG -3'
(R):5'- AGGTCACCAAACAGCACGTG -3'
Sequencing Primer
(F):5'- TTCAGCAAGTCCAGGGCAG -3'
(R):5'- ACAGCACGTGTTGGTTGATATC -3'
|
Posted On |
2021-12-30 |