Incidental Mutation 'R3943:Camkv'
| ID |
307548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camkv
|
| Ensembl Gene |
ENSMUSG00000032936 |
| Gene Name |
CaM kinase-like vesicle-associated |
| Synonyms |
|
| MMRRC Submission |
040924-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3943 (G1)
|
| Quality Score |
171 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107813097-107826882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107825182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 366
(D366E)
|
| 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: D394E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000040430
Gene: ENSMUSG00000032936
AA Change: D394E
| 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: D366E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141444
Gene: ENSMUSG00000032936
AA Change: D366E
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
A |
G |
2: 168,026,980 (GRCm39) |
I105T |
possibly damaging |
Het |
| Atf3 |
A |
G |
1: 190,903,713 (GRCm39) |
I171T |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,946,343 (GRCm39) |
I773V |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,160,350 (GRCm39) |
L603* |
probably null |
Het |
| Cad |
T |
A |
5: 31,229,729 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,913,039 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,880,668 (GRCm39) |
S932P |
probably damaging |
Het |
| Fam227a |
C |
T |
15: 79,505,060 (GRCm39) |
|
probably benign |
Het |
| Fbp2 |
A |
G |
13: 62,989,607 (GRCm39) |
F233S |
possibly damaging |
Het |
| Gnptab |
G |
T |
10: 88,269,756 (GRCm39) |
V820L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gpr158 |
C |
A |
2: 21,373,370 (GRCm39) |
R102S |
possibly damaging |
Het |
| Gramd1b |
A |
T |
9: 40,442,340 (GRCm39) |
M1K |
probably null |
Het |
| H2-T23 |
A |
G |
17: 36,341,535 (GRCm39) |
V312A |
probably benign |
Het |
| Hltf |
A |
T |
3: 20,146,908 (GRCm39) |
I494F |
probably damaging |
Het |
| Il16 |
G |
A |
7: 83,301,223 (GRCm39) |
L300F |
probably damaging |
Het |
| Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
| Kcnq1 |
T |
C |
7: 142,979,825 (GRCm39) |
L657P |
probably damaging |
Het |
| Krt4 |
G |
A |
15: 101,829,685 (GRCm39) |
T281M |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,140,127 (GRCm39) |
F196S |
possibly damaging |
Het |
| Naip6 |
T |
C |
13: 100,431,247 (GRCm39) |
T1197A |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,523,365 (GRCm39) |
N204K |
probably damaging |
Het |
| Or7g27 |
T |
A |
9: 19,250,371 (GRCm39) |
M205K |
probably benign |
Het |
| Rassf6 |
G |
T |
5: 90,752,185 (GRCm39) |
Q258K |
possibly damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,583,655 (GRCm39) |
L380P |
probably damaging |
Het |
| Ribc2 |
A |
G |
15: 85,019,451 (GRCm39) |
M78V |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,799,950 (GRCm39) |
H73L |
probably damaging |
Het |
| Smg6 |
G |
A |
11: 74,820,367 (GRCm39) |
G213R |
probably damaging |
Het |
| Sspn |
T |
A |
6: 145,880,083 (GRCm39) |
W62R |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,710 (GRCm39) |
S1656G |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,084,807 (GRCm39) |
|
probably null |
Het |
| Tab1 |
T |
C |
15: 80,037,941 (GRCm39) |
L258P |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trf |
T |
A |
9: 103,100,151 (GRCm39) |
I271F |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,673,138 (GRCm39) |
N538K |
possibly damaging |
Het |
| Usp28 |
T |
A |
9: 48,911,666 (GRCm39) |
L25I |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,363,930 (GRCm39) |
I662N |
probably damaging |
Het |
| Vmn2r42 |
A |
T |
7: 8,197,779 (GRCm39) |
F280Y |
possibly damaging |
Het |
| Vps8 |
A |
T |
16: 21,288,873 (GRCm39) |
N411Y |
probably damaging |
Het |
| Vwa2 |
T |
G |
19: 56,897,747 (GRCm39) |
L684R |
probably damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,396 (GRCm39) |
Q377R |
probably benign |
Het |
| Zfp947 |
C |
A |
17: 22,364,801 (GRCm39) |
G291V |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,927,656 (GRCm39) |
T366A |
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 |
|
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 |
|
|
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'- AGTGACCACTCTCATGAAGCG -3'
(R):5'- TTACTAGAGGGTGGAGCCTG -3'
Sequencing Primer
(F):5'- ACTCTCATGAAGCGGCTCC -3'
(R):5'- CCTCTAGGGCTGTGCTGTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation