Incidental Mutation 'R5480:Camkv'
| ID |
434270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camkv
|
| Ensembl Gene |
ENSMUSG00000032936 |
| Gene Name |
CaM kinase-like vesicle-associated |
| Synonyms |
|
| MMRRC Submission |
043041-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5480 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107813097-107826882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107824074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 216
(D216G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035700]
[ENSMUST00000049348]
[ENSMUST00000193533]
[ENSMUST00000194206]
[ENSMUST00000194271]
[ENSMUST00000195219]
|
| AlphaFold |
Q3UHL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035700
AA Change: D244G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040430
Gene: ENSMUSG00000032936
AA Change: D244G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
286 |
4.21e-81 |
SMART |
|
low complexity region
|
332 |
385 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
392 |
425 |
3.43e-15 |
PROSPERO |
|
internal_repeat_1
|
416 |
449 |
3.43e-15 |
PROSPERO |
|
low complexity region
|
461 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049348
|
| SMART Domains |
Protein: ENSMUSP00000040001
Gene: ENSMUSG00000032586
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
7 |
49 |
6.68e-6 |
SMART |
|
coiled coil region
|
70 |
278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192567
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193533
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194206
AA Change: D216G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141444
Gene: ENSMUSG00000032936
AA Change: D216G
| Domain | Start | End | E-Value | Type |
|---|
|
STYKc
|
24 |
258 |
2.3e-8 |
SMART |
|
low complexity region
|
304 |
357 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
364 |
397 |
2.93e-15 |
PROSPERO |
|
internal_repeat_1
|
388 |
421 |
2.93e-15 |
PROSPERO |
|
low complexity region
|
433 |
450 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194271
|
| SMART Domains |
Protein: ENSMUSP00000141689
Gene: ENSMUSG00000032586
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
7 |
49 |
3.2e-8 |
SMART |
|
coiled coil region
|
54 |
143 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194538
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195219
|
| Meta Mutation Damage Score |
0.5735 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.7%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh7 |
A |
G |
17: 57,306,131 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,482,979 (GRCm39) |
L343S |
probably damaging |
Het |
| Btbd10 |
T |
A |
7: 112,915,914 (GRCm39) |
R392W |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,836,460 (GRCm39) |
D525G |
probably damaging |
Het |
| Dqx1 |
A |
T |
6: 83,041,784 (GRCm39) |
D542V |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,662,441 (GRCm39) |
T539A |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,267,939 (GRCm39) |
E278G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,200,912 (GRCm39) |
S721P |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,857,424 (GRCm39) |
C2257* |
probably null |
Het |
| Frem2 |
A |
T |
3: 53,563,928 (GRCm39) |
L193* |
probably null |
Het |
| Gfy |
C |
A |
7: 44,826,657 (GRCm39) |
V394F |
probably benign |
Het |
| Gipr |
A |
G |
7: 18,894,579 (GRCm39) |
L241P |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,552,100 (GRCm39) |
S445P |
probably damaging |
Het |
| Ift140 |
G |
T |
17: 25,239,550 (GRCm39) |
W69L |
probably damaging |
Het |
| Kat6a |
T |
A |
8: 23,428,323 (GRCm39) |
M1226K |
possibly damaging |
Het |
| Klk12 |
T |
G |
7: 43,420,482 (GRCm39) |
H140Q |
probably benign |
Het |
| Map3k14 |
A |
G |
11: 103,130,330 (GRCm39) |
F196L |
probably benign |
Het |
| Mblac2 |
T |
A |
13: 81,898,395 (GRCm39) |
V257E |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,138,935 (GRCm39) |
E188G |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,027,724 (GRCm39) |
N250S |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,648,811 (GRCm39) |
D209G |
probably damaging |
Het |
| Pigs |
T |
G |
11: 78,219,901 (GRCm39) |
I92S |
possibly damaging |
Het |
| Pigz |
G |
T |
16: 31,763,439 (GRCm39) |
G166C |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,757,388 (GRCm39) |
R1550L |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,180,595 (GRCm39) |
V40A |
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,301,616 (GRCm39) |
M1470K |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,833,652 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,098,311 (GRCm39) |
T1272A |
possibly damaging |
Het |
| Rfwd3 |
A |
T |
8: 112,000,464 (GRCm39) |
D720E |
probably damaging |
Het |
| Rgs12 |
C |
G |
5: 35,123,455 (GRCm39) |
Q413E |
probably benign |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,563 (GRCm39) |
V376D |
possibly damaging |
Het |
| Rrp8 |
C |
T |
7: 105,383,336 (GRCm39) |
S310N |
probably damaging |
Het |
| S100a3 |
C |
T |
3: 90,509,591 (GRCm39) |
L79F |
probably damaging |
Het |
| Setbp1 |
C |
A |
18: 78,901,278 (GRCm39) |
M796I |
probably damaging |
Het |
| Sipa1 |
A |
G |
19: 5,709,658 (GRCm39) |
L254P |
possibly damaging |
Het |
| Slc4a7 |
C |
G |
14: 14,782,138 (GRCm38) |
H964Q |
probably damaging |
Het |
| Strc |
G |
T |
2: 121,195,300 (GRCm39) |
P1661Q |
probably benign |
Het |
| Taf5l |
A |
T |
8: 124,736,559 (GRCm39) |
V4E |
possibly damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,069,123 (GRCm39) |
E82G |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,739,682 (GRCm39) |
S858P |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,310,557 (GRCm39) |
V157A |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,208,463 (GRCm39) |
T419A |
probably benign |
Het |
| Vmn2r60 |
G |
T |
7: 41,785,154 (GRCm39) |
W122L |
probably damaging |
Het |
| Vwa3b |
C |
A |
1: 37,139,787 (GRCm39) |
Y369* |
probably null |
Het |
| Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
possibly damaging |
Het |
|
| Other mutations in Camkv |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0288:Camkv
|
UTSW |
9 |
107,823,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0834:Camkv
|
UTSW |
9 |
107,823,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Camkv
|
UTSW |
9 |
107,824,287 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1996:Camkv
|
UTSW |
9 |
107,824,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2165:Camkv
|
UTSW |
9 |
107,822,799 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3943:Camkv
|
UTSW |
9 |
107,825,182 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4006:Camkv
|
UTSW |
9 |
107,823,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4357:Camkv
|
UTSW |
9 |
107,825,145 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4406:Camkv
|
UTSW |
9 |
107,823,418 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4601:Camkv
|
UTSW |
9 |
107,823,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5078:Camkv
|
UTSW |
9 |
107,822,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5175:Camkv
|
UTSW |
9 |
107,824,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5373:Camkv
|
UTSW |
9 |
107,824,088 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5379:Camkv
|
UTSW |
9 |
107,822,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5484:Camkv
|
UTSW |
9 |
107,823,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6335:Camkv
|
UTSW |
9 |
107,823,894 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6730:Camkv
|
UTSW |
9 |
107,825,516 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8430:Camkv
|
UTSW |
9 |
107,824,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8701:Camkv
|
UTSW |
9 |
107,825,240 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8889:Camkv
|
UTSW |
9 |
107,823,333 (GRCm39) |
nonsense |
probably null |
|
|
R8892:Camkv
|
UTSW |
9 |
107,823,333 (GRCm39) |
nonsense |
probably null |
|
|
R8948:Camkv
|
UTSW |
9 |
107,824,296 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8950:Camkv
|
UTSW |
9 |
107,824,296 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9265:Camkv
|
UTSW |
9 |
107,825,262 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9631:Camkv
|
UTSW |
9 |
107,822,990 (GRCm39) |
missense |
probably benign |
0.37 |
|
RF010:Camkv
|
UTSW |
9 |
107,825,059 (GRCm39) |
unclassified |
probably benign |
|
|
RF039:Camkv
|
UTSW |
9 |
107,825,059 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAATTGGGCTTGCAGC -3'
(R):5'- TCACCATTCGTGGGAGATGG -3'
Sequencing Primer
(F):5'- CCAGGTGGGCTGGACAATTAC -3'
(R):5'- ACCTCCATCAGCCTGGTGAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation