Incidental Mutation 'R6730:Camkv'
ID |
530026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camkv
|
Ensembl Gene |
ENSMUSG00000032936 |
Gene Name |
CaM kinase-like vesicle-associated |
Synonyms |
|
MMRRC Submission |
044848-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6730 (G1)
|
Quality Score |
121.008 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
107813097-107826882 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107825516 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 478
(S478P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035700]
[ENSMUST00000049348]
[ENSMUST00000193533]
[ENSMUST00000194206]
[ENSMUST00000194271]
[ENSMUST00000195219]
|
AlphaFold |
Q3UHL1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035700
AA Change: S506P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000040430 Gene: ENSMUSG00000032936 AA Change: S506P
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 |
possibly damaging
Transcript: ENSMUST00000194206
AA Change: S478P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141444 Gene: ENSMUSG00000032936 AA Change: S478P
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 |
probably benign
Transcript: ENSMUST00000195219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194538
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930455H04Rik |
T |
A |
3: 116,777,124 (GRCm39) |
*59R |
probably null |
Het |
Adam10 |
G |
T |
9: 70,647,458 (GRCm39) |
|
probably null |
Het |
Adam2 |
A |
T |
14: 66,275,025 (GRCm39) |
N569K |
possibly damaging |
Het |
Adam20 |
T |
C |
8: 41,249,696 (GRCm39) |
V602A |
probably benign |
Het |
Adgrb3 |
T |
C |
1: 25,133,375 (GRCm39) |
Y1237C |
probably damaging |
Het |
Ago3 |
T |
C |
4: 126,265,338 (GRCm39) |
T318A |
probably null |
Het |
Aknad1 |
G |
A |
3: 108,659,655 (GRCm39) |
G223D |
possibly damaging |
Het |
Ccl27a |
T |
A |
4: 41,773,342 (GRCm39) |
H39L |
probably damaging |
Het |
Ccser2 |
C |
A |
14: 36,601,043 (GRCm39) |
S447I |
probably damaging |
Het |
Clvs2 |
A |
G |
10: 33,404,517 (GRCm39) |
L233P |
probably damaging |
Het |
Csn1s2b |
T |
A |
5: 87,970,127 (GRCm39) |
H124Q |
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,353,082 (GRCm39) |
L2745P |
probably benign |
Het |
Dync1i2 |
T |
A |
2: 71,077,484 (GRCm39) |
F219L |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ephb6 |
C |
T |
6: 41,594,308 (GRCm39) |
Q613* |
probably null |
Het |
Erc2 |
A |
C |
14: 27,620,524 (GRCm39) |
D50A |
possibly damaging |
Het |
Fam149a |
T |
A |
8: 45,834,211 (GRCm39) |
D196V |
probably damaging |
Het |
Ficd |
T |
C |
5: 113,876,773 (GRCm39) |
V316A |
probably damaging |
Het |
Gstm6 |
T |
A |
3: 107,850,041 (GRCm39) |
K18* |
probably null |
Het |
Ighv1-62-1 |
A |
T |
12: 115,350,512 (GRCm39) |
W52R |
probably benign |
Het |
Klhl18 |
C |
T |
9: 110,257,979 (GRCm39) |
C417Y |
probably damaging |
Het |
Ly9 |
T |
A |
1: 171,432,737 (GRCm39) |
Y92F |
probably benign |
Het |
Mettl18 |
C |
T |
1: 163,824,750 (GRCm39) |
T357I |
probably damaging |
Het |
Myoz2 |
C |
A |
3: 122,810,276 (GRCm39) |
G100C |
probably damaging |
Het |
Or10a49 |
A |
T |
7: 108,467,780 (GRCm39) |
F194I |
probably benign |
Het |
Or4k47 |
A |
G |
2: 111,452,080 (GRCm39) |
V113A |
probably damaging |
Het |
Or7h8 |
T |
C |
9: 20,123,798 (GRCm39) |
I51T |
probably benign |
Het |
Pars2 |
C |
T |
4: 106,510,628 (GRCm39) |
L128F |
probably damaging |
Het |
Pcsk6 |
G |
T |
7: 65,629,996 (GRCm39) |
R374L |
probably damaging |
Het |
Ptpn3 |
T |
C |
4: 57,270,088 (GRCm39) |
T25A |
probably benign |
Het |
Rab11fip1 |
G |
A |
8: 27,633,257 (GRCm39) |
P1150S |
probably damaging |
Het |
Rabep1 |
A |
G |
11: 70,831,212 (GRCm39) |
Q831R |
possibly damaging |
Het |
Rad17 |
T |
C |
13: 100,786,253 (GRCm39) |
|
probably benign |
Het |
Rxfp1 |
T |
A |
3: 79,557,898 (GRCm39) |
R527* |
probably null |
Het |
Scnn1b |
C |
T |
7: 121,502,100 (GRCm39) |
P253S |
probably damaging |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Slc2a7 |
T |
C |
4: 150,242,605 (GRCm39) |
F231S |
probably damaging |
Het |
Svil |
A |
G |
18: 5,049,311 (GRCm39) |
N196S |
probably benign |
Het |
Tent5c |
T |
A |
3: 100,380,273 (GRCm39) |
N161I |
probably benign |
Het |
Urb1 |
T |
C |
16: 90,575,971 (GRCm39) |
S862G |
possibly damaging |
Het |
Usp30 |
T |
C |
5: 114,241,770 (GRCm39) |
S87P |
probably damaging |
Het |
Vmn1r177 |
T |
A |
7: 23,565,237 (GRCm39) |
H213L |
probably damaging |
Het |
Vmn2r106 |
T |
A |
17: 20,499,096 (GRCm39) |
I272L |
possibly damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,832,012 (GRCm39) |
D259V |
probably benign |
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 |
R5480:Camkv
|
UTSW |
9 |
107,824,074 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- TGACAGAAGCGCTACACCAG -3'
(R):5'- CACAGGAGACAAGACTGCTCTC -3'
Sequencing Primer
(F):5'- CAGCTACTGATGGCAGAGC -3'
(R):5'- GGAGACAAGACTGCTCTCCCATG -3'
|
Posted On |
2018-08-01 |