Incidental Mutation 'R5078:Camkv'
| ID |
386966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camkv
|
| Ensembl Gene |
ENSMUSG00000032936 |
| Gene Name |
CaM kinase-like vesicle-associated |
| Synonyms |
|
| MMRRC Submission |
042667-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107813097-107826882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107822572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 29
(V29A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035700]
[ENSMUST00000193533]
[ENSMUST00000194206]
[ENSMUST00000195219]
|
| AlphaFold |
Q3UHL1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035700
AA Change: V29A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040430
Gene: ENSMUSG00000032936
AA Change: V29A
| 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 |
noncoding transcript
Transcript: ENSMUST00000192318
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000193533
AA Change: V29A
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194206
AA Change: V29A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141444
Gene: ENSMUSG00000032936
AA Change: V29A
| 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 |
noncoding transcript
Transcript: ENSMUST00000194538
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195219
AA Change: V29A
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.1610 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
T |
C |
16: 4,141,771 (GRCm39) |
S345G |
probably benign |
Het |
| Adgrf2 |
A |
T |
17: 43,021,877 (GRCm39) |
F316I |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,736,002 (GRCm39) |
|
probably benign |
Het |
| Auts2 |
T |
C |
5: 132,287,786 (GRCm39) |
K66E |
possibly damaging |
Het |
| Bicra |
T |
C |
7: 15,709,382 (GRCm39) |
D1144G |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,557,312 (GRCm39) |
S1109P |
probably damaging |
Het |
| Ccdc178 |
A |
T |
18: 22,200,685 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
G |
A |
6: 61,288,350 (GRCm39) |
R171H |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,312,150 (GRCm39) |
Y133C |
probably damaging |
Het |
| Cerkl |
T |
A |
2: 79,223,352 (GRCm39) |
D123V |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,946,616 (GRCm39) |
S121P |
possibly damaging |
Het |
| Col4a2 |
T |
C |
8: 11,493,936 (GRCm39) |
V1459A |
probably benign |
Het |
| Dlg1 |
T |
A |
16: 31,675,287 (GRCm39) |
Y704* |
probably null |
Het |
| Dsg2 |
T |
C |
18: 20,729,140 (GRCm39) |
|
probably null |
Het |
| Egln3 |
T |
C |
12: 54,228,453 (GRCm39) |
R218G |
probably damaging |
Het |
| Gm11568 |
T |
C |
11: 99,749,181 (GRCm39) |
C129R |
unknown |
Het |
| Gm13991 |
T |
C |
2: 116,358,355 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnc |
C |
A |
16: 26,784,332 (GRCm39) |
V58L |
probably benign |
Het |
| Gpx5 |
A |
G |
13: 21,472,881 (GRCm39) |
F151S |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,546,922 (GRCm39) |
G1079R |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,752,969 (GRCm39) |
E1039G |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,125,487 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
T |
C |
12: 5,143,530 (GRCm39) |
T500A |
possibly damaging |
Het |
| Lrfn5 |
A |
C |
12: 61,890,660 (GRCm39) |
K650Q |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,331,874 (GRCm39) |
D1627G |
possibly damaging |
Het |
| Nxn |
T |
C |
11: 76,152,433 (GRCm39) |
K354E |
probably damaging |
Het |
| Or5d20-ps1 |
T |
A |
2: 87,931,879 (GRCm39) |
I151L |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,478,895 (GRCm39) |
T2118A |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,598,105 (GRCm39) |
F861L |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,157,607 (GRCm39) |
Y2368H |
probably damaging |
Het |
| Pnp |
T |
A |
14: 51,188,963 (GRCm39) |
L252* |
probably null |
Het |
| Prom2 |
T |
C |
2: 127,373,757 (GRCm39) |
Q641R |
probably benign |
Het |
| Prpf31 |
T |
C |
7: 3,637,702 (GRCm39) |
S180P |
possibly damaging |
Het |
| Prss27 |
C |
A |
17: 24,263,414 (GRCm39) |
Y142* |
probably null |
Het |
| Ripk1 |
T |
G |
13: 34,201,082 (GRCm39) |
M265R |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ropn1 |
T |
A |
16: 34,487,161 (GRCm39) |
D32E |
probably damaging |
Het |
| Rps23 |
T |
C |
13: 91,071,822 (GRCm39) |
F41L |
probably benign |
Het |
| Sec24d |
A |
G |
3: 123,084,201 (GRCm39) |
I127V |
probably benign |
Het |
| Selenot |
C |
T |
3: 58,492,692 (GRCm39) |
R60W |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,546,921 (GRCm39) |
K342E |
probably damaging |
Het |
| Tlx1 |
A |
T |
19: 45,144,460 (GRCm39) |
N61Y |
probably damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,679,122 (GRCm39) |
I701F |
probably damaging |
Het |
| Zmynd12 |
A |
G |
4: 119,302,047 (GRCm39) |
K229E |
probably 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 |
|
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 |
|
|
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'- AAGCAGTGTCGATCAGTATTTACC -3'
(R):5'- CTTACAGGTGTGCAGCTTGC -3'
Sequencing Primer
(F):5'- TGAGCTGAGTTTCCCAAAAGC -3'
(R):5'- GTGCAGCTTGCCCGTTGTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation