Mutagenetix > Incidental Mutation

Incidental Mutation 'R5373:Camkv'

428873

Institutional Source

Beutler Lab

Gene Symbol

Camkv

Ensembl Gene

ENSMUSG00000032936

Gene Name

CaM kinase-like vesicle-associated

Synonyms

MMRRC Submission

042949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5373 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107813097-107826882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107824088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 221 (S221P)

Ref Sequence

ENSEMBL: ENSMUSP00000141444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035700] [ENSMUST00000049348] [ENSMUST00000193533] [ENSMUST00000194206] [ENSMUST00000194271] [ENSMUST00000195219]

AlphaFold

Q3UHL1

Predicted Effect

probably benign
Transcript: ENSMUST00000035700
AA Change: S249P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000040430
Gene: ENSMUSG00000032936
AA Change: S249P

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 benign
Transcript: ENSMUST00000194206
AA Change: S221P

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141444
Gene: ENSMUSG00000032936
AA Change: S221P

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

0.1528

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (74/77)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,396 (GRCm39)	S862G	probably benign	Het
Abcb5	G	T	12: 118,850,912 (GRCm39)	T887K	probably damaging	Het
Adgrf1	G	A	17: 43,601,896 (GRCm39)		probably benign	Het
Adss2	T	G	1: 177,623,954 (GRCm39)	I3L	probably benign	Het
Anapc7	T	A	5: 122,576,280 (GRCm39)	D302E	probably benign	Het
Ank3	A	G	10: 69,789,306 (GRCm39)		probably null	Het
Arpp21	T	G	9: 111,896,336 (GRCm39)	M687L	probably benign	Het
Ccdc88a	C	T	11: 29,413,409 (GRCm39)	T649M	possibly damaging	Het
Cdh12	A	C	15: 21,583,998 (GRCm39)	S613R	probably damaging	Het
Chsy1	C	T	7: 65,759,824 (GRCm39)	Q56*	probably null	Het
Cisd2	A	G	3: 135,114,596 (GRCm39)	V125A	probably benign	Het
Cntnap2	T	A	6: 47,084,903 (GRCm39)	H1121Q	probably benign	Het
Corin	A	T	5: 72,462,296 (GRCm39)	C876S	probably damaging	Het
Cplane1	T	C	15: 8,300,287 (GRCm39)	V3198A	unknown	Het
Cspp1	T	G	1: 10,204,351 (GRCm39)	L1038R	probably damaging	Het
Cwc15	A	G	9: 14,416,234 (GRCm39)	K147E	possibly damaging	Het
Dlgap2	A	G	8: 14,873,614 (GRCm39)	D739G	probably benign	Het
Dmxl2	A	G	9: 54,276,473 (GRCm39)		probably benign	Het
Dnajc6	T	C	4: 101,472,824 (GRCm39)	I317T	probably damaging	Het
Dpysl3	T	C	18: 43,494,101 (GRCm39)	Y193C	probably damaging	Het
Dtna	T	C	18: 23,784,670 (GRCm39)	Y730H	probably damaging	Het
Dusp3	A	G	11: 101,875,451 (GRCm39)	Y38H	possibly damaging	Het
Eif3m	A	T	2: 104,843,277 (GRCm39)	I151N	probably damaging	Het
Eml2	A	T	7: 18,913,188 (GRCm39)	D62V	possibly damaging	Het
Epb41l3	C	A	17: 69,593,795 (GRCm39)	H810N	probably damaging	Het
Evc2	C	T	5: 37,535,554 (GRCm39)	R410W	probably damaging	Het
Fam169b	T	C	7: 67,950,586 (GRCm39)	Y13H	probably damaging	Het
Fcrl5	A	G	3: 87,353,698 (GRCm39)	T348A	probably benign	Het
Fezf2	A	T	14: 12,344,803 (GRCm38)	V128E	possibly damaging	Het
Ighv3-5	A	G	12: 114,226,573 (GRCm39)	S18P	probably damaging	Het
Kcnq5	T	A	1: 22,031,795 (GRCm39)	H4L	unknown	Het
Kdm5d	C	T	Y: 927,995 (GRCm39)	P756S	probably benign	Het
Lig1	AG	A	7: 13,039,849 (GRCm39)		probably null	Het
Ly75	A	T	2: 60,142,115 (GRCm39)	L1332M	possibly damaging	Het
Med1	T	A	11: 98,054,789 (GRCm39)	K378N	probably damaging	Het
Mn1	A	G	5: 111,569,752 (GRCm39)		probably null	Het
Mpo	T	C	11: 87,694,437 (GRCm39)		probably null	Het
Mtfr2	G	T	10: 20,228,598 (GRCm39)	C48F	probably benign	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Pcdhga4	T	C	18: 37,818,649 (GRCm39)	V66A	probably damaging	Het
Pik3c3	T	C	18: 30,445,614 (GRCm39)	S534P	probably benign	Het
Pla2g4e	A	T	2: 120,016,876 (GRCm39)	C222S	probably benign	Het
Plch1	A	C	3: 63,605,499 (GRCm39)	H1468Q	probably benign	Het
Psd2	T	A	18: 36,140,556 (GRCm39)	W610R	probably damaging	Het
Ptgs1	A	T	2: 36,141,198 (GRCm39)	K548N	probably damaging	Het
Ptpn14	T	C	1: 189,583,160 (GRCm39)	M669T	probably benign	Het
Ptprf	G	T	4: 118,083,238 (GRCm39)	T923K	possibly damaging	Het
Ptprg	A	G	14: 12,213,665 (GRCm38)	N1011S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Rgsl1	C	T	1: 153,666,053 (GRCm39)	V986I	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxfp2	A	G	5: 149,993,725 (GRCm39)	T596A	probably benign	Het
Serpina3j	A	G	12: 104,280,986 (GRCm39)	D53G	probably damaging	Het
Slc26a7	A	T	4: 14,546,447 (GRCm39)	I294N	probably damaging	Het
Slirp	T	C	12: 87,496,192 (GRCm39)	S96P	possibly damaging	Het
Snx6	T	C	12: 54,817,513 (GRCm39)	E128G	probably damaging	Het
Spata6	T	A	4: 111,680,031 (GRCm39)		probably null	Het
Stap1	A	G	5: 86,238,787 (GRCm39)	T152A	possibly damaging	Het
Susd5	G	A	9: 113,911,653 (GRCm39)	G188R	probably damaging	Het
Thap2	A	T	10: 115,208,744 (GRCm39)	Y125*	probably null	Het
Tnrc18	G	A	5: 142,725,911 (GRCm39)	R1793C	unknown	Het
Ugt1a10	T	A	1: 87,983,632 (GRCm39)	D143E	probably damaging	Het
Vmn1r85	A	T	7: 12,818,255 (GRCm39)	Y296*	probably null	Het
Vmn2r71	C	T	7: 85,267,750 (GRCm39)	T68I	possibly damaging	Het
Zc3h6	A	T	2: 128,844,076 (GRCm39)	I207F	possibly damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zfp85	T	C	13: 67,897,577 (GRCm39)	Y165C	probably damaging	Het
Zup1	T	C	10: 33,803,462 (GRCm39)	N541D	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
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'- CACACAATTGGGCTTGCAGC -3'
(R):5'- TCACCATTCGTGGGAGATGG -3'

Sequencing Primer
(F):5'- CCAGGTGGGCTGGACAATTAC -3'
(R):5'- ACCTCCATCAGCCTGGTGAC -3'

Posted On

2016-09-06