Incidental Mutation 'R4406:Camkv'
| ID |
377843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camkv
|
| Ensembl Gene |
ENSMUSG00000032936 |
| Gene Name |
CaM kinase-like vesicle-associated |
| Synonyms |
|
| MMRRC Submission |
041688-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4406 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107813097-107826882 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 107823418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035700]
[ENSMUST00000049348]
[ENSMUST00000193533]
[ENSMUST00000194206]
[ENSMUST00000194271]
[ENSMUST00000195219]
|
| AlphaFold |
Q3UHL1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035700
|
| SMART Domains |
Protein: ENSMUSP00000040430
Gene: ENSMUSG00000032936
| 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 null
Transcript: ENSMUST00000194206
|
| SMART Domains |
Protein: ENSMUSP00000141444
Gene: ENSMUSG00000032936
| 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 |
0.9487 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
T |
11: 84,171,275 (GRCm39) |
L1170F |
probably benign |
Het |
| Acss3 |
A |
T |
10: 106,889,198 (GRCm39) |
D207E |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,656,671 (GRCm39) |
S325P |
probably damaging |
Het |
| Ankrd37 |
A |
G |
8: 46,450,131 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,733,787 (GRCm39) |
P1059S |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 93,989,950 (GRCm39) |
T387A |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,022,620 (GRCm39) |
L1653I |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,153,094 (GRCm39) |
A3706V |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
| Gm1527 |
G |
A |
3: 28,949,874 (GRCm39) |
V45M |
possibly damaging |
Het |
| Gm5084 |
A |
G |
13: 60,360,380 (GRCm39) |
|
noncoding transcript |
Het |
| Itpr1 |
T |
A |
6: 108,331,624 (GRCm39) |
H194Q |
probably damaging |
Het |
| Kif24 |
A |
T |
4: 41,393,954 (GRCm39) |
L973Q |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,299 (GRCm39) |
T412A |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,184,894 (GRCm39) |
E420G |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
| Mib1 |
A |
C |
18: 10,763,289 (GRCm39) |
K446N |
probably damaging |
Het |
| Mrpl4 |
T |
C |
9: 20,918,231 (GRCm39) |
W146R |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,706,092 (GRCm39) |
N482S |
probably benign |
Het |
| Or2y1 |
G |
A |
11: 49,385,744 (GRCm39) |
R128H |
probably benign |
Het |
| Or5b105 |
A |
G |
19: 13,079,958 (GRCm39) |
S237P |
possibly damaging |
Het |
| Or5b96 |
A |
T |
19: 12,867,598 (GRCm39) |
Y114* |
probably null |
Het |
| Or8g21 |
T |
C |
9: 38,905,865 (GRCm39) |
I289V |
possibly damaging |
Het |
| Or9s15 |
T |
A |
1: 92,525,036 (GRCm39) |
M265K |
possibly damaging |
Het |
| Osbpl10 |
C |
T |
9: 114,938,549 (GRCm39) |
H70Y |
probably damaging |
Het |
| Pdilt |
A |
C |
7: 119,094,232 (GRCm39) |
S340A |
probably damaging |
Het |
| Ppan |
C |
A |
9: 20,802,288 (GRCm39) |
D226E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sema3g |
G |
A |
14: 30,950,116 (GRCm39) |
V766M |
probably benign |
Het |
| Skint6 |
T |
A |
4: 113,013,683 (GRCm39) |
N356I |
probably benign |
Het |
| Slco2b1 |
A |
T |
7: 99,314,096 (GRCm39) |
S496T |
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,260,602 (GRCm39) |
V11A |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Umod |
G |
A |
7: 119,065,287 (GRCm39) |
P581S |
probably damaging |
Het |
| Zfat |
A |
G |
15: 68,052,040 (GRCm39) |
S585P |
probably benign |
Het |
| Zfp472 |
C |
A |
17: 33,197,134 (GRCm39) |
T403N |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,748 (GRCm39) |
Q405R |
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 |
|
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'- TGGTACAAATCAGGCCTCCC -3'
(R):5'- AGGTGAAAGTCGCTGATGAC -3'
Sequencing Primer
(F):5'- AGGCCTCCCAAATGCTCCTG -3'
(R):5'- CGCTGATGACAATCTTTGAGTTC -3'
|
| Posted On |
2016-04-12 |
Incidental Mutation