Mutagenetix > Incidental Mutation

Incidental Mutation 'RF039:Camkv'

604719

Institutional Source

Beutler Lab

Gene Symbol

Camkv

Ensembl Gene

ENSMUSG00000032936

Gene Name

CaM kinase-like vesicle-associated

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF039 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

107813097-107826882 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CGCTGCTGC to CGC at 107825059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142005 (fasta)

Gene Model

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

AlphaFold

Q3UHL1

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000193533

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000195219

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTTCATCCTGGGCTGCT	4: 155,989,549 (GRCm39)		probably benign	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,971 (GRCm39)		probably benign	Het
Cckbr	GCA	G	7: 105,083,893 (GRCm39)		probably null	Het
Cd276	G	A	9: 58,442,787 (GRCm39)	R223C	probably damaging	Het
Cdx1	CTGCTG	CTGCTGATGCTG	18: 61,152,942 (GRCm39)		probably benign	Het
Cul9	CCT	CCTTCT	17: 46,811,780 (GRCm39)		probably benign	Het
Dcdc2b	GCTGC	GCTGCCAGGTCTGC	4: 129,503,444 (GRCm39)		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eml6	CTAAAAAAACAAAACA	C	11: 29,702,551 (GRCm39)		probably benign	Het
Eps8	C	CTCAT	6: 137,494,068 (GRCm39)		probably null	Het
Exd2	CACAGCCA	C	12: 80,522,715 (GRCm39)		probably null	Het
Gab3	TTC	TTCGTC	X: 74,043,610 (GRCm39)		probably benign	Het
Gm10718	ATTTTCAGTTTCCTCGCCATATTCCAGGTCCTACAGTGTGCATTTCTCATTTTTCACGTTTTTCAGT	ATTTTCAGT	9: 3,024,385 (GRCm39)		probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,489,122 (GRCm39)		probably benign	Het
Gm8369	GTG	GTGTTTTTG	19: 11,489,146 (GRCm39)		probably benign	Het
Igf1r	GG	GGTGATGGAGCTTG	7: 67,875,924 (GRCm39)		probably benign	Het
Il2	GG	GGGCTTGTTGTGTG	3: 37,179,991 (GRCm39)		probably benign	Het
Kif12	GGC	GGCCTCCAACCGGCCAGC	4: 63,089,662 (GRCm39)		probably benign	Het
L1td1	AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG	AGGAGGAGGAG	4: 98,625,026 (GRCm39)		probably benign	Het
Lrch1	CGTGGTGCTGGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	CGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	14: 75,184,989 (GRCm39)		probably benign	Het
Lypd8	ACCAATCACCAAC	ACCAATCACCAACTGTTCCCTCGCCTCTGTTTCCCCCCCAATCACCAAC	11: 58,281,057 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,432 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGAAG	X: 70,162,446 (GRCm39)		probably benign	Het
Map1a	CCAGC	CCAGCCCCAGCTCCAGCTCCAGCTCCAGCTACAGC	2: 121,136,785 (GRCm39)		probably benign	Het
Mast4	CCTCGGGGACAAGCTGTGAGTTGGGGAAC	CC	13: 102,875,749 (GRCm39)		probably benign	Het
Nalf2	CCG	CCGCCGGCG	X: 98,864,978 (GRCm39)		probably benign	Het
Nefh	AGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	AGCTGGGGACTTGGCCTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,007 (GRCm39)		probably benign	Het
Or4k41	G	A	2: 111,279,896 (GRCm39)	G137D	not run	Het
Pdcd11	GGAGGAGA	G	19: 47,101,894 (GRCm39)		probably null	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Pnma8a	CAACATC	CAACATCTCATGATGCACCTGCTTTAACATC	7: 16,695,369 (GRCm39)		probably benign	Het
Prp2	AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	6: 132,577,464 (GRCm39)		probably benign	Het
Prr5l	GCCTC	G	2: 101,627,918 (GRCm39)		probably null	Het
Rassf6	TCATGGTCCTGTAGAGCAATGGGGATTC	TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,774 (GRCm39)		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGTTCCTGTAGAGCAATGGGGTTTC	5: 90,756,798 (GRCm39)		probably benign	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCCCCATGATCACTGTGCTC	15: 76,499,070 (GRCm39)		probably benign	Het
Slc39a4	TC	TCATCGTGATCACCATGGTCACCATGATCACTGTGGAC	15: 76,499,071 (GRCm39)		probably benign	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Spmap2l	GCGATCCTCCCCAGTCCCGCAAGGCCA	GCGATCCTCCCCAGGCCCGCAAGGCCACCGATCCTCCCCAGTCCCGCAAGGCCA	5: 77,164,249 (GRCm39)		probably benign	Het
Strn	TTACCCC	TTACCCCTGGCCGTGCTCCCTTACCCCAGTCCGTGCGCCCGTACCCC	17: 78,984,707 (GRCm39)		probably null	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,825,401 (GRCm39)		probably benign	Het
Tent4a	GACA	G	13: 69,681,973 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,020 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGTAG	17: 48,097,035 (GRCm39)		probably null	Het
Thbs1	TGACCTTAG	TG	2: 117,953,346 (GRCm39)		probably benign	Het
Tmprss13	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	9: 45,239,762 (GRCm39)		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGG	CCCCAGGACTCCCTGTGCCCAACGGAACAAACCCAGGACTCCCTGTGCCCAACGG	15: 78,851,236 (GRCm39)		probably benign	Het
Triobp	CAGGACTCCCTGTGCCCAACGG	CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG	15: 78,851,239 (GRCm39)		probably benign	Het
Ufl1	C	T	4: 25,280,628 (GRCm39)	R73Q	possibly damaging	Het
Yipf3	AGAGGA	AGA	17: 46,559,898 (GRCm39)		probably benign	Het
Zc3h4	TGACATGCACCCTGACATGCACCCAGACATGCACCCCGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA	TGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA	7: 16,163,543 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- AGGAGTGGATCTAGTGAAGCTC -3'
(R):5'- CAGTAGCTGGAGTGACACTC -3'

Sequencing Primer
(F):5'- GTGAAGCTCACCACGAACCTTTC -3'
(R):5'- AGTGACACTCCCGTCAGTG -3'

Posted On

2019-12-04