Mutagenetix > Incidental Mutation

Incidental Mutation 'R5484:Camkv'

430316

Institutional Source

Beutler Lab

Gene Symbol

Camkv

Ensembl Gene

ENSMUSG00000032936

Gene Name

CaM kinase-like vesicle-associated

Synonyms

MMRRC Submission

043045-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107813097-107826882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107823345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 124 (N124Y)

Ref Sequence

ENSEMBL: ENSMUSP00000141444 (fasta)

Gene Model

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

AlphaFold

Q3UHL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000035700
AA Change: N124Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040430
Gene: ENSMUSG00000032936
AA Change: N124Y

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 damaging
Transcript: ENSMUST00000194206
AA Change: N124Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141444
Gene: ENSMUSG00000032936
AA Change: N124Y

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

0.2466

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.4%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,313,851 (GRCm39)	H609R	probably benign	Het
Abca6	A	T	11: 110,074,899 (GRCm39)	V1388E	probably damaging	Het
Alx1	T	A	10: 102,861,177 (GRCm39)	D117V	probably damaging	Het
Ascl4	T	C	10: 85,764,401 (GRCm39)	L16P	probably damaging	Het
Atp4a	G	A	7: 30,420,097 (GRCm39)		probably benign	Het
Btnl10	G	A	11: 58,814,651 (GRCm39)	V444M	probably damaging	Het
Catsperb	T	C	12: 101,542,175 (GRCm39)	L625P	probably benign	Het
Ccdc171	A	G	4: 83,612,199 (GRCm39)	I973V	probably benign	Het
Celsr1	T	C	15: 85,815,483 (GRCm39)	D1844G	probably benign	Het
Chd7	G	C	4: 8,828,258 (GRCm39)	K1066N	probably damaging	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Corin	T	C	5: 72,515,827 (GRCm39)	D409G	probably benign	Het
Cry1	T	C	10: 84,982,588 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,427,689 (GRCm39)		probably benign	Het
Cyrib	T	A	15: 63,815,056 (GRCm39)	T139S	probably damaging	Het
Dmxl1	T	A	18: 50,022,531 (GRCm39)	V1623E	probably damaging	Het
Dnah6	G	T	6: 73,069,099 (GRCm39)	D2477E	possibly damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dop1a	C	G	9: 86,427,341 (GRCm39)	R2164G	probably damaging	Het
Dsp	A	G	13: 38,368,014 (GRCm39)	T678A	possibly damaging	Het
Farsb	A	C	1: 78,452,833 (GRCm39)	I51S	probably damaging	Het
Gm10220	T	A	5: 26,322,930 (GRCm39)	I161L	possibly damaging	Het
Gm10782	G	T	13: 56,510,987 (GRCm39)		noncoding transcript	Het
Gm12830	A	T	4: 114,702,248 (GRCm39)	T137S	unknown	Het
Gopc	A	G	10: 52,234,942 (GRCm39)	L67P	probably damaging	Het
Hmcn1	T	C	1: 150,551,291 (GRCm39)	I2655V	probably benign	Het
Hmcn2	C	T	2: 31,283,066 (GRCm39)	Q1981*	probably null	Het
Ifi209	T	A	1: 173,468,640 (GRCm39)	S157T	probably benign	Het
Ift56	T	G	6: 38,366,057 (GRCm39)	C124W	probably benign	Het
Iqcf1	A	T	9: 106,379,107 (GRCm39)	I74F	probably damaging	Het
Irf3	A	T	7: 44,649,382 (GRCm39)	R78W	probably damaging	Het
Kank4	T	C	4: 98,663,022 (GRCm39)	D722G	probably benign	Het
Loxl1	A	G	9: 58,198,065 (GRCm39)	V597A	possibly damaging	Het
Marveld1	T	C	19: 42,136,272 (GRCm39)	L62P	probably damaging	Het
Mga	T	G	2: 119,747,107 (GRCm39)	D419E	possibly damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mroh2b	A	G	15: 4,938,463 (GRCm39)	K251E	possibly damaging	Het
Myh4	A	G	11: 67,142,644 (GRCm39)	E935G	probably damaging	Het
Nat8f2	C	A	6: 85,844,994 (GRCm39)	A123S	possibly damaging	Het
Niban1	A	G	1: 151,593,837 (GRCm39)	T841A	probably benign	Het
Or4d11	G	A	19: 12,013,192 (GRCm39)	L305F	probably benign	Het
Pcdha9	T	A	18: 37,131,156 (GRCm39)	V75E	probably damaging	Het
Pebp4	A	T	14: 70,200,991 (GRCm39)		probably null	Het
Pitx1	A	G	13: 55,974,166 (GRCm39)	S222P	probably benign	Het
Plekhg3	G	A	12: 76,625,174 (GRCm39)	V1339M	possibly damaging	Het
Plekhs1	C	T	19: 56,468,260 (GRCm39)	S276L	possibly damaging	Het
Plin4	T	C	17: 56,411,932 (GRCm39)	T700A	possibly damaging	Het
Plxnb2	T	C	15: 89,048,412 (GRCm39)		probably null	Het
Pms2	T	C	5: 143,864,943 (GRCm39)	I675T	probably damaging	Het
Polrmt	A	G	10: 79,577,888 (GRCm39)	L268P	probably damaging	Het
Rtp1	A	G	16: 23,248,025 (GRCm39)	T33A	probably benign	Het
Safb2	T	C	17: 56,882,346 (GRCm39)		probably benign	Het
Sdk1	C	A	5: 142,085,941 (GRCm39)	P1383Q	probably damaging	Het
Setdb1	A	T	3: 95,244,569 (GRCm39)	C758S	probably damaging	Het
Sh3gl2	T	C	4: 85,317,160 (GRCm39)		probably benign	Het
Slc13a2	G	A	11: 78,295,648 (GRCm39)		probably benign	Het
Slc35b1	T	C	11: 95,278,631 (GRCm39)	Y126H	probably damaging	Het
Strip2	C	A	6: 29,917,154 (GRCm39)		probably benign	Het
Tbx4	A	G	11: 85,805,230 (GRCm39)	T440A	probably damaging	Het
Tcf7l2	C	A	19: 55,907,940 (GRCm39)		probably null	Het
Tgfb1	A	C	7: 25,387,574 (GRCm39)	D94A	probably benign	Het
Tmem132b	T	C	5: 125,864,797 (GRCm39)	C968R	probably damaging	Het
Tmem176b	T	A	6: 48,811,467 (GRCm39)	M61L	probably benign	Het
Tmem258	A	G	19: 10,184,689 (GRCm39)		probably null	Het
Tpr	T	C	1: 150,302,639 (GRCm39)	L1379S	probably benign	Het
Vmn2r44	T	C	7: 8,383,123 (GRCm39)	D157G	possibly damaging	Het
Wfdc8	T	C	2: 164,439,649 (GRCm39)	I244M	probably benign	Het
Zfp341	T	C	2: 154,466,921 (GRCm39)	S97P	probably benign	Het
Zfp655	T	C	5: 145,180,445 (GRCm39)	V101A	probably benign	Het
Zfp788	T	C	7: 41,299,277 (GRCm39)	S586P	probably damaging	Het
Zfp874b	C	T	13: 67,629,373 (GRCm39)	V52I	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
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
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'- AGAAACCCACTTTTGAAACCCTTTG -3'
(R):5'- CAGCTGTTCGGGAGAGAATG -3'

Sequencing Primer
(F):5'- TTTGGGTCCCAAGGCCCTG -3'
(R):5'- CTGTTCGGGAGAGAATGGTAGG -3'

Posted On

2016-10-05