Incidental Mutation 'R1400:Cage1'
| ID |
160342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cage1
|
| Ensembl Gene |
ENSMUSG00000044566 |
| Gene Name |
cancer antigen 1 |
| Synonyms |
Ctag3, CAGE1, 4933427I01Rik |
| MMRRC Submission |
039462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R1400 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
38190028-38221045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38216400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 17
(S17P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021866]
[ENSMUST00000074969]
[ENSMUST00000089840]
[ENSMUST00000110233]
[ENSMUST00000131066]
[ENSMUST00000223656]
[ENSMUST00000224477]
|
| AlphaFold |
Q5IR70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021866
|
| SMART Domains |
Protein: ENSMUSP00000021866
Gene: ENSMUSG00000021428
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
75 |
N/A |
INTRINSIC |
|
RIO
|
150 |
386 |
5.1e-134 |
SMART |
|
Blast:RIO
|
465 |
531 |
4e-12 |
BLAST |
|
low complexity region
|
551 |
567 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074969
AA Change: S17P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
AA Change: S17P
| 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: S17P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
AA Change: S17P
| 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 |
possibly damaging
Transcript: ENSMUST00000131066
AA Change: S17P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122393
Gene: ENSMUSG00000044566
AA Change: S17P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAGE1
|
1 |
318 |
6.5e-167 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223910
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225954
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130008F23Rik |
T |
C |
17: 41,191,195 (GRCm39) |
E78G |
probably damaging |
Het |
| Acsf2 |
T |
C |
11: 94,461,142 (GRCm39) |
I345V |
probably benign |
Het |
| Akap11 |
T |
A |
14: 78,751,402 (GRCm39) |
K328N |
probably damaging |
Het |
| Aoc1 |
T |
A |
6: 48,883,217 (GRCm39) |
Y364* |
probably null |
Het |
| Aoc1 |
A |
T |
6: 48,883,645 (GRCm39) |
Q507L |
probably benign |
Het |
| Atp6v1c2 |
T |
C |
12: 17,339,131 (GRCm39) |
T207A |
probably benign |
Het |
| Atr |
C |
A |
9: 95,744,901 (GRCm39) |
Q73K |
probably benign |
Het |
| Cfap44 |
A |
T |
16: 44,241,575 (GRCm39) |
I649F |
probably benign |
Het |
| Cops4 |
A |
G |
5: 100,681,412 (GRCm39) |
K200R |
probably damaging |
Het |
| Crygd |
A |
G |
1: 65,102,367 (GRCm39) |
S32P |
probably damaging |
Het |
| Cyp3a11 |
A |
G |
5: 145,799,299 (GRCm39) |
I296T |
probably damaging |
Het |
| Fads3 |
A |
G |
19: 10,033,664 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,213,265 (GRCm39) |
E974G |
possibly damaging |
Het |
| Gcgr |
A |
G |
11: 120,425,812 (GRCm39) |
H45R |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,752,220 (GRCm39) |
I2112T |
probably damaging |
Het |
| Gm43302 |
A |
T |
5: 105,422,622 (GRCm39) |
I470N |
probably damaging |
Het |
| Hoxa13 |
C |
G |
6: 52,260,647 (GRCm38) |
|
probably benign |
Het |
| Hoxa13 |
G |
C |
6: 52,260,648 (GRCm38) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Krt13 |
C |
A |
11: 100,012,110 (GRCm39) |
G71V |
probably damaging |
Het |
| Las1l |
T |
C |
X: 94,990,506 (GRCm39) |
T390A |
possibly damaging |
Het |
| Lifr |
T |
A |
15: 7,220,346 (GRCm39) |
V992E |
probably benign |
Het |
| Mbd5 |
T |
C |
2: 49,164,788 (GRCm39) |
|
probably null |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,350,477 (GRCm39) |
F636S |
probably damaging |
Het |
| Necab1 |
T |
C |
4: 14,975,185 (GRCm39) |
D232G |
possibly damaging |
Het |
| Nlrp4e |
A |
T |
7: 23,021,085 (GRCm39) |
E524V |
possibly damaging |
Het |
| Nxf3 |
T |
A |
X: 134,976,794 (GRCm39) |
T349S |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or4c12 |
T |
A |
2: 89,773,886 (GRCm39) |
H191L |
possibly damaging |
Het |
| Or4n5 |
A |
T |
14: 50,133,148 (GRCm39) |
I37K |
possibly damaging |
Het |
| Or7g29 |
A |
G |
9: 19,286,358 (GRCm39) |
V273A |
probably damaging |
Het |
| Or9g19 |
T |
C |
2: 85,600,477 (GRCm39) |
C111R |
possibly damaging |
Het |
| Plscr1l1 |
G |
T |
9: 92,233,180 (GRCm39) |
C25F |
probably benign |
Het |
| Ppm1e |
T |
A |
11: 87,122,592 (GRCm39) |
N455I |
probably damaging |
Het |
| Prkag2 |
G |
A |
5: 25,078,916 (GRCm39) |
T158I |
probably damaging |
Het |
| Ptpn18 |
T |
C |
1: 34,502,587 (GRCm39) |
|
probably null |
Het |
| Rai14 |
T |
G |
15: 10,571,634 (GRCm39) |
K936N |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,035,808 (GRCm39) |
L1077P |
probably damaging |
Het |
| Rgn |
C |
A |
X: 20,416,696 (GRCm39) |
Q27K |
probably benign |
Het |
| Ryr2 |
C |
T |
13: 11,609,962 (GRCm39) |
S723N |
probably benign |
Het |
| Scamp1 |
A |
G |
13: 94,361,455 (GRCm39) |
F142L |
possibly damaging |
Het |
| Selenon |
A |
G |
4: 134,278,829 (GRCm39) |
V67A |
probably benign |
Het |
| Slc5a5 |
T |
C |
8: 71,342,079 (GRCm39) |
I292V |
possibly damaging |
Het |
| Smarca2 |
C |
A |
19: 26,654,140 (GRCm39) |
T775K |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,861,787 (GRCm39) |
V2437I |
possibly damaging |
Het |
| Tas2r143 |
C |
T |
6: 42,377,317 (GRCm39) |
A49V |
probably benign |
Het |
| Tlr7 |
T |
A |
X: 166,090,845 (GRCm39) |
N214Y |
probably damaging |
Het |
| Unc13a |
C |
A |
8: 72,103,865 (GRCm39) |
D856Y |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,680,118 (GRCm39) |
Y263H |
probably damaging |
Het |
| Vill |
T |
C |
9: 118,892,415 (GRCm39) |
S349P |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,785,336 (GRCm39) |
|
probably null |
Het |
| Zfp664 |
T |
C |
5: 124,963,217 (GRCm39) |
C204R |
unknown |
Het |
| Zfp729b |
A |
G |
13: 67,740,913 (GRCm39) |
Y451H |
possibly 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 |
|
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'- CGCCTGGAACTCTATGAGCAGAAAG -3'
(R):5'- TCATCATCCCTGGCAGTGCAAAAC -3'
Sequencing Primer
(F):5'- agagatggctcagtggttaag -3'
(R):5'- ACAAAAAAGGAAAGTTATTGCCTTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation