Incidental Mutation 'R6882:Cage1'
| ID |
536743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cage1
|
| Ensembl Gene |
ENSMUSG00000044566 |
| Gene Name |
cancer antigen 1 |
| Synonyms |
Ctag3, CAGE1, 4933427I01Rik |
| MMRRC Submission |
044977-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R6882 (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 A
at 38206534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 437
(Q437L)
|
| 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: Q543L
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
AA Change: Q543L
| 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: Q437L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087278
Gene: ENSMUSG00000044566
AA Change: Q437L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAGE1
|
1 |
420 |
6.8e-230 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110233
AA Change: Q543L
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
AA Change: Q543L
| 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: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
A |
G |
12: 71,003,125 (GRCm39) |
E238G |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,761,271 (GRCm39) |
C989S |
probably damaging |
Het |
| Ank2 |
T |
G |
3: 126,739,406 (GRCm39) |
|
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,105,318 (GRCm39) |
D320G |
probably damaging |
Het |
| Cacnb2 |
T |
A |
2: 14,829,110 (GRCm39) |
I15N |
probably benign |
Het |
| Capn15 |
G |
T |
17: 26,179,153 (GRCm39) |
|
probably null |
Het |
| Cbll1 |
A |
G |
12: 31,537,484 (GRCm39) |
Y424H |
probably damaging |
Het |
| Ccdc166 |
T |
C |
15: 75,853,466 (GRCm39) |
H167R |
possibly damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,523,809 (GRCm39) |
|
probably benign |
Het |
| Cdkl4 |
T |
A |
17: 80,851,175 (GRCm39) |
T176S |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,447,054 (GRCm39) |
E2321G |
possibly damaging |
Het |
| Col6a5 |
G |
A |
9: 105,817,469 (GRCm39) |
Q281* |
probably null |
Het |
| Csmd2 |
A |
G |
4: 128,343,062 (GRCm39) |
T1485A |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 49,976,851 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
A |
G |
7: 119,570,407 (GRCm39) |
I2271T |
possibly damaging |
Het |
| Elavl2 |
A |
G |
4: 91,196,952 (GRCm39) |
I42T |
probably damaging |
Het |
| Epn3 |
C |
T |
11: 94,382,186 (GRCm39) |
A568T |
probably benign |
Het |
| Etv3 |
T |
C |
3: 87,436,577 (GRCm39) |
F111L |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,400,724 (GRCm39) |
E1041G |
probably damaging |
Het |
| Fosl2 |
T |
C |
5: 32,310,208 (GRCm39) |
V219A |
possibly damaging |
Het |
| Foxj2 |
T |
A |
6: 122,805,464 (GRCm39) |
|
probably null |
Het |
| Gm8947 |
G |
A |
1: 151,068,880 (GRCm39) |
A238T |
possibly damaging |
Het |
| Golgb1 |
C |
A |
16: 36,734,352 (GRCm39) |
Q1200K |
probably benign |
Het |
| Igkv4-55 |
A |
G |
6: 69,584,289 (GRCm39) |
Y108H |
probably damaging |
Het |
| Iglc1 |
G |
A |
16: 18,880,599 (GRCm39) |
|
probably benign |
Het |
| Ints13 |
G |
T |
6: 146,464,939 (GRCm39) |
R221S |
probably null |
Het |
| Ipo11 |
T |
C |
13: 107,037,190 (GRCm39) |
|
probably null |
Het |
| Kcnn2 |
A |
T |
18: 45,692,505 (GRCm39) |
H27L |
possibly damaging |
Het |
| Kcns3 |
C |
T |
12: 11,142,049 (GRCm39) |
V217M |
probably benign |
Het |
| Klra9 |
A |
T |
6: 130,155,985 (GRCm39) |
C257S |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lmbr1l |
A |
G |
15: 98,805,467 (GRCm39) |
F345L |
probably damaging |
Het |
| Lrrc18 |
A |
C |
14: 32,730,646 (GRCm39) |
I62L |
probably benign |
Het |
| Mr1 |
A |
G |
1: 155,008,199 (GRCm39) |
W259R |
possibly damaging |
Het |
| Myo15a |
G |
A |
11: 60,414,832 (GRCm39) |
R3325H |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,839,775 (GRCm39) |
D788G |
probably damaging |
Het |
| Or2y1c |
A |
T |
11: 49,361,290 (GRCm39) |
Y104F |
probably benign |
Het |
| Or5an10 |
C |
A |
19: 12,275,934 (GRCm39) |
Q187H |
probably damaging |
Het |
| Or5h24 |
A |
T |
16: 58,918,990 (GRCm39) |
C122S |
unknown |
Het |
| Or6d12 |
T |
C |
6: 116,493,395 (GRCm39) |
V219A |
probably benign |
Het |
| Pbld1 |
T |
C |
10: 62,897,241 (GRCm39) |
L11P |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,263,662 (GRCm39) |
E434G |
probably benign |
Het |
| Prg4 |
G |
A |
1: 150,329,246 (GRCm39) |
T174M |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,601,127 (GRCm39) |
|
probably null |
Het |
| Prkdc |
T |
A |
16: 15,626,020 (GRCm39) |
S3349T |
probably benign |
Het |
| Prpf38a |
C |
A |
4: 108,427,365 (GRCm39) |
E199D |
probably benign |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Rhbg |
T |
A |
3: 88,152,527 (GRCm39) |
H339L |
probably damaging |
Het |
| Rnf183 |
A |
G |
4: 62,346,261 (GRCm39) |
I179T |
probably benign |
Het |
| Sh3bp5l |
G |
T |
11: 58,222,525 (GRCm39) |
A7S |
probably benign |
Het |
| Slc12a3 |
T |
A |
8: 95,092,546 (GRCm39) |
I989N |
possibly damaging |
Het |
| Sycp3 |
C |
T |
10: 88,308,791 (GRCm39) |
R246* |
probably null |
Het |
| Tmprss11b |
T |
A |
5: 86,819,530 (GRCm39) |
|
probably null |
Het |
| Tmx4 |
T |
C |
2: 134,485,922 (GRCm39) |
T2A |
possibly damaging |
Het |
| Tnfsf10 |
T |
C |
3: 27,380,182 (GRCm39) |
L82S |
possibly damaging |
Het |
| Tnni3k |
T |
A |
3: 154,663,357 (GRCm39) |
I332F |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,644,539 (GRCm39) |
T13072S |
probably benign |
Het |
| Vmn2r1 |
A |
T |
3: 63,997,529 (GRCm39) |
Y395F |
possibly damaging |
Het |
| Zbbx |
A |
G |
3: 74,979,019 (GRCm39) |
V476A |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,479,943 (GRCm39) |
C465R |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,843,016 (GRCm39) |
D224G |
probably damaging |
Het |
| Zfp407 |
G |
T |
18: 84,361,194 (GRCm39) |
|
probably null |
Het |
| Zfp52 |
T |
C |
17: 21,775,309 (GRCm39) |
M1T |
probably null |
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 |
|
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'- TTAGAATTCAGCGTCTGCATGG -3'
(R):5'- AACAGATCGGCCAGTCAGTG -3'
Sequencing Primer
(F):5'- GAATTCAGCGTCTGCATGGATACC -3'
(R):5'- TGGAGAAGGCCACCAGTTCTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation