Mutagenetix > Incidental Mutation

Incidental Mutation 'R0254:Alpk3'

34562

Institutional Source

Beutler Lab

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

MMRRC Submission

038485-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

R0254 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

81057600-81105612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81076974 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 136 (T136S)

Ref Sequence

ENSEMBL: ENSMUSP00000102971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107348]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000107348
AA Change: T136S

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: T136S

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
low complexity region	48	62	N/A	INTRINSIC
IGc2	89	159	2.78e-11	SMART
low complexity region	183	192	N/A	INTRINSIC
low complexity region	400	427	N/A	INTRINSIC
low complexity region	514	532	N/A	INTRINSIC
low complexity region	586	598	N/A	INTRINSIC
low complexity region	958	971	N/A	INTRINSIC
low complexity region	1048	1058	N/A	INTRINSIC
low complexity region	1076	1087	N/A	INTRINSIC
IG_like	1264	1330	5.73e-2	SMART
low complexity region	1350	1359	N/A	INTRINSIC
Alpha_kinase	1395	1592	1.17e-44	SMART

Meta Mutation Damage Score

0.2316

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

100% (100/100)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene-trappped allele exhibit altered cardiomyocyte architecture and develop a non-progressive cardiomyopathy that presents features of both hypertrophic and dilated forms of cardiomyopathy, [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,952,404 (GRCm38)	M252L	probably benign	Het
Abca6	A	G	11: 110,236,789 (GRCm38)	V314A	probably benign	Het
Abcb1b	A	T	5: 8,827,409 (GRCm38)	E656D	probably benign	Het
Abhd4	T	C	14: 54,263,234 (GRCm38)	I160T	probably benign	Het
Aco2	T	C	15: 81,889,356 (GRCm38)	V32A	probably damaging	Het
Actl6b	A	G	5: 137,554,144 (GRCm38)		probably benign	Het
Akap13	T	C	7: 75,736,604 (GRCm38)		probably benign	Het
Ap1g1	G	T	8: 109,803,117 (GRCm38)	M56I	probably benign	Het
Arid2	C	T	15: 96,370,571 (GRCm38)	T855I	probably damaging	Het
Asprv1	T	C	6: 86,629,095 (GRCm38)	F308L	probably damaging	Het
Ass1	A	T	2: 31,514,819 (GRCm38)	N371Y	probably damaging	Het
Atp11b	T	A	3: 35,812,110 (GRCm38)	M378K	possibly damaging	Het
Atp1a3	T	C	7: 24,981,512 (GRCm38)		probably benign	Het
Blk	C	A	14: 63,380,804 (GRCm38)	A218S	probably benign	Het
C4b	T	A	17: 34,734,776 (GRCm38)	T953S	probably benign	Het
Cdadc1	T	C	14: 59,575,907 (GRCm38)		probably benign	Het
Cdca2	C	A	14: 67,677,178 (GRCm38)	L877F	probably damaging	Het
Ceacam10	G	T	7: 24,778,308 (GRCm38)	V83L	probably damaging	Het
Cep290	A	T	10: 100,514,574 (GRCm38)	I677F	probably benign	Het
Clip1	A	T	5: 123,617,332 (GRCm38)		probably benign	Het
Col11a2	G	T	17: 34,064,803 (GRCm38)		probably benign	Het
Coro1c	A	T	5: 113,845,252 (GRCm38)	V405D	probably benign	Het
Crebrf	A	G	17: 26,739,594 (GRCm38)	T13A	probably benign	Het
Cspg4	A	G	9: 56,897,410 (GRCm38)	E1835G	probably damaging	Het
Cubn	T	C	2: 13,424,694 (GRCm38)	N1332S	probably benign	Het
Cubn	T	C	2: 13,440,514 (GRCm38)	T1014A	possibly damaging	Het
Cubn	A	T	2: 13,476,035 (GRCm38)		probably null	Het
Efnb1	T	C	X: 99,137,028 (GRCm38)		probably benign	Het
Elf2	G	T	3: 51,308,190 (GRCm38)	P33Q	probably damaging	Het
Fap	C	T	2: 62,503,402 (GRCm38)	G633D	probably damaging	Het
Gm10288	T	C	3: 146,838,920 (GRCm38)		noncoding transcript	Het
Gm14139	G	A	2: 150,191,864 (GRCm38)	R35K	possibly damaging	Het
Gm7714	A	T	5: 88,282,371 (GRCm38)	H42L	possibly damaging	Het
Got2	T	C	8: 95,869,538 (GRCm38)	N318S	probably benign	Het
Guk1	A	T	11: 59,186,028 (GRCm38)	F76L	probably damaging	Het
H2-K1	A	T	17: 33,996,665 (GRCm38)		probably benign	Het
Helz2	C	A	2: 181,232,759 (GRCm38)	G1981C	probably damaging	Het
Hinfp	G	A	9: 44,298,239 (GRCm38)	H250Y	probably damaging	Het
Hnrnpm	C	T	17: 33,652,268 (GRCm38)		probably null	Het
Hsd11b2	T	A	8: 105,523,067 (GRCm38)	V270E	possibly damaging	Het
Igbp1b	A	T	6: 138,658,203 (GRCm38)	M81K	probably damaging	Het
Kif11	A	G	19: 37,411,509 (GRCm38)	T815A	probably benign	Het
Kit	G	A	5: 75,620,921 (GRCm38)	V337I	probably benign	Het
Klf11	T	C	12: 24,653,583 (GRCm38)	S6P	probably damaging	Het
Klk13	T	C	7: 43,723,821 (GRCm38)	V193A	probably benign	Het
Krt73	T	A	15: 101,799,889 (GRCm38)		probably benign	Het
L1td1	T	A	4: 98,737,182 (GRCm38)	L538*	probably null	Het
Macf1	A	G	4: 123,432,779 (GRCm38)	L2061P	probably damaging	Het
Mcm2	A	G	6: 88,884,016 (GRCm38)	I900T	probably damaging	Het
Med16	A	T	10: 79,900,200 (GRCm38)	N371K	possibly damaging	Het
Mepce	A	C	5: 137,785,436 (GRCm38)	D209E	possibly damaging	Het
Mrc2	C	G	11: 105,347,866 (GRCm38)	P1249R	probably benign	Het
Mx2	A	T	16: 97,556,095 (GRCm38)	I463L	probably benign	Het
Naaa	A	T	5: 92,265,135 (GRCm38)	N73K	probably damaging	Het
Nags	T	A	11: 102,147,945 (GRCm38)	L404Q	probably damaging	Het
Neb	A	G	2: 52,243,390 (GRCm38)	Y3379H	probably damaging	Het
Nhsl1	A	G	10: 18,472,985 (GRCm38)	E120G	probably damaging	Het
Olfr1276	A	C	2: 111,257,121 (GRCm38)	N2T	probably benign	Het
Olfr561	C	A	7: 102,774,869 (GRCm38)	S115*	probably null	Het
Olfr615	T	A	7: 103,560,622 (GRCm38)	Y48*	probably null	Het
Olfr643	T	C	7: 104,059,521 (GRCm38)	H27R	probably benign	Het
Olfr736	T	C	14: 50,393,079 (GRCm38)	S108P	probably damaging	Het
Pcnt	A	G	10: 76,392,580 (GRCm38)	F1584L	probably benign	Het
Pdgfra	G	A	5: 75,167,935 (GRCm38)	V243I	probably damaging	Het
Polr2a	T	C	11: 69,743,671 (GRCm38)	I689V	possibly damaging	Het
Ppfia4	C	A	1: 134,324,224 (GRCm38)		probably benign	Het
Prmt8	C	A	6: 127,711,808 (GRCm38)	V200L	probably damaging	Het
Prpf8	T	A	11: 75,506,362 (GRCm38)	I2007N	possibly damaging	Het
Ptpn6	T	C	6: 124,728,150 (GRCm38)	E230G	probably damaging	Het
R3hcc1l	G	A	19: 42,563,148 (GRCm38)	V195I	probably damaging	Het
Rb1cc1	C	T	1: 6,262,847 (GRCm38)	T1330I	probably damaging	Het
Reep3	G	T	10: 67,021,796 (GRCm38)	T172N	probably benign	Het
Rfwd3	A	G	8: 111,294,023 (GRCm38)	V236A	probably benign	Het
Rgs22	T	C	15: 36,104,552 (GRCm38)	I121V	probably damaging	Het
Robo1	T	A	16: 72,664,170 (GRCm38)	F11I	probably benign	Het
Rsrc2	A	G	5: 123,740,847 (GRCm38)		probably benign	Het
Rubcn	A	G	16: 32,847,946 (GRCm38)	V117A	probably benign	Het
Scamp1	T	G	13: 94,210,580 (GRCm38)	N192T	probably benign	Het
Scn8a	T	A	15: 101,018,364 (GRCm38)	I1218N	probably damaging	Het
Serinc1	A	G	10: 57,523,208 (GRCm38)	S200P	probably damaging	Het
Serpinb9f	T	A	13: 33,334,591 (GRCm38)	F358Y	probably damaging	Het
Slc12a5	T	C	2: 164,997,245 (GRCm38)		probably null	Het
Slc5a4b	T	C	10: 76,070,628 (GRCm38)	M386V	possibly damaging	Het
Smarca5	A	G	8: 80,704,700 (GRCm38)	F963L	probably benign	Het
Smchd1	A	T	17: 71,411,891 (GRCm38)	F828I	probably benign	Het
Stab2	G	T	10: 86,897,960 (GRCm38)	Q1333K	probably benign	Het
Svop	T	C	5: 114,038,539 (GRCm38)	S349G	probably benign	Het
Tdrd1	G	A	19: 56,842,566 (GRCm38)	S271N	probably benign	Het
Tec	G	A	5: 72,783,738 (GRCm38)	P159S	probably benign	Het
Tec	T	C	5: 72,763,556 (GRCm38)		probably benign	Het
Tfip11	G	A	5: 112,335,655 (GRCm38)	M645I	probably benign	Het
Thap12	A	T	7: 98,715,281 (GRCm38)	T219S	probably benign	Het
Tmem87a	C	T	2: 120,375,507 (GRCm38)	R329H	probably damaging	Het
Tpsab1	A	G	17: 25,343,745 (GRCm38)	Y227H	probably damaging	Het
Urah	G	A	7: 140,837,689 (GRCm38)	V114I	probably benign	Het
Wnt5a	G	A	14: 28,522,854 (GRCm38)	E353K	probably damaging	Het
Zfp101	A	T	17: 33,380,978 (GRCm38)	H601Q	possibly damaging	Het

Other mutations in Alpk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Alpk3	APN	7	81,078,009 (GRCm38)	missense	possibly damaging	0.95
IGL00472:Alpk3	APN	7	81,095,653 (GRCm38)	splice site	probably benign
IGL01732:Alpk3	APN	7	81,057,642 (GRCm38)	missense	unknown
IGL01750:Alpk3	APN	7	81,092,282 (GRCm38)	missense	probably damaging	1.00
IGL01812:Alpk3	APN	7	81,100,202 (GRCm38)	missense	probably damaging	1.00
IGL02224:Alpk3	APN	7	81,076,868 (GRCm38)	splice site	probably benign
IGL02292:Alpk3	APN	7	81,077,905 (GRCm38)	missense	possibly damaging	0.46
IGL02340:Alpk3	APN	7	81,078,507 (GRCm38)	missense	probably benign	0.03
IGL02517:Alpk3	APN	7	81,077,895 (GRCm38)	missense	probably benign	0.00
IGL02725:Alpk3	APN	7	81,093,610 (GRCm38)	missense	possibly damaging	0.91
IGL02755:Alpk3	APN	7	81,093,759 (GRCm38)	missense	possibly damaging	0.71
IGL03035:Alpk3	APN	7	81,078,604 (GRCm38)	missense	probably benign	0.00
IGL03102:Alpk3	APN	7	81,095,056 (GRCm38)	critical splice donor site	probably null
IGL03153:Alpk3	APN	7	81,093,395 (GRCm38)	missense	probably benign	0.00
IGL03255:Alpk3	APN	7	81,092,562 (GRCm38)	missense	probably benign	0.01
IGL03367:Alpk3	APN	7	81,094,990 (GRCm38)	missense	probably benign	0.01
FR4304:Alpk3	UTSW	7	81,077,762 (GRCm38)	small insertion	probably benign
FR4737:Alpk3	UTSW	7	81,077,762 (GRCm38)	small insertion	probably benign
IGL03097:Alpk3	UTSW	7	81,093,909 (GRCm38)	missense	probably benign	0.00
R0092:Alpk3	UTSW	7	81,092,553 (GRCm38)	missense	probably benign
R0310:Alpk3	UTSW	7	81,078,610 (GRCm38)	missense	possibly damaging	0.61
R0325:Alpk3	UTSW	7	81,067,953 (GRCm38)	missense	possibly damaging	0.58
R0387:Alpk3	UTSW	7	81,104,227 (GRCm38)	missense	possibly damaging	0.93
R0971:Alpk3	UTSW	7	81,092,579 (GRCm38)	missense	possibly damaging	0.55
R1078:Alpk3	UTSW	7	81,078,600 (GRCm38)	missense	probably benign
R1146:Alpk3	UTSW	7	81,077,595 (GRCm38)	missense	probably damaging	0.99
R1146:Alpk3	UTSW	7	81,077,595 (GRCm38)	missense	probably damaging	0.99
R1168:Alpk3	UTSW	7	81,103,357 (GRCm38)	missense	probably damaging	1.00
R1306:Alpk3	UTSW	7	81,093,873 (GRCm38)	missense	probably damaging	1.00
R1822:Alpk3	UTSW	7	81,076,931 (GRCm38)	nonsense	probably null
R2173:Alpk3	UTSW	7	81,076,900 (GRCm38)	missense	probably damaging	1.00
R2350:Alpk3	UTSW	7	81,094,970 (GRCm38)	missense	probably damaging	1.00
R2414:Alpk3	UTSW	7	81,092,753 (GRCm38)	missense	probably benign	0.02
R2417:Alpk3	UTSW	7	81,092,753 (GRCm38)	missense	probably benign	0.02
R2885:Alpk3	UTSW	7	81,100,192 (GRCm38)	missense	probably damaging	1.00
R3004:Alpk3	UTSW	7	81,103,355 (GRCm38)	nonsense	probably null
R3796:Alpk3	UTSW	7	81,092,753 (GRCm38)	missense	probably benign	0.02
R3797:Alpk3	UTSW	7	81,092,753 (GRCm38)	missense	probably benign	0.02
R3798:Alpk3	UTSW	7	81,092,753 (GRCm38)	missense	probably benign	0.02
R3799:Alpk3	UTSW	7	81,092,753 (GRCm38)	missense	probably benign	0.02
R3894:Alpk3	UTSW	7	81,078,390 (GRCm38)	missense	possibly damaging	0.93
R4395:Alpk3	UTSW	7	81,094,955 (GRCm38)	missense	probably damaging	1.00
R4761:Alpk3	UTSW	7	81,104,168 (GRCm38)	missense	probably damaging	0.99
R5505:Alpk3	UTSW	7	81,078,561 (GRCm38)	missense	possibly damaging	0.87
R5540:Alpk3	UTSW	7	81,095,436 (GRCm38)	missense	probably damaging	1.00
R5770:Alpk3	UTSW	7	81,078,562 (GRCm38)	missense	probably benign	0.02
R5941:Alpk3	UTSW	7	81,078,653 (GRCm38)	missense	probably damaging	1.00
R5964:Alpk3	UTSW	7	81,092,260 (GRCm38)	missense	possibly damaging	0.88
R6036:Alpk3	UTSW	7	81,093,257 (GRCm38)	missense	probably benign	0.34
R6036:Alpk3	UTSW	7	81,093,257 (GRCm38)	missense	probably benign	0.34
R6066:Alpk3	UTSW	7	81,076,950 (GRCm38)	missense	possibly damaging	0.89
R6517:Alpk3	UTSW	7	81,078,579 (GRCm38)	missense	possibly damaging	0.54
R6578:Alpk3	UTSW	7	81,078,684 (GRCm38)	missense	probably benign	0.00
R7230:Alpk3	UTSW	7	81,093,294 (GRCm38)	missense	probably damaging	1.00
R7266:Alpk3	UTSW	7	81,092,580 (GRCm38)	missense	possibly damaging	0.55
R7271:Alpk3	UTSW	7	81,078,454 (GRCm38)	missense	possibly damaging	0.92
R7402:Alpk3	UTSW	7	81,076,912 (GRCm38)	missense	probably benign	0.29
R7411:Alpk3	UTSW	7	81,092,852 (GRCm38)	missense	probably benign	0.11
R7454:Alpk3	UTSW	7	81,078,562 (GRCm38)	missense	probably benign	0.02
R7468:Alpk3	UTSW	7	81,100,998 (GRCm38)	nonsense	probably null
R7940:Alpk3	UTSW	7	81,093,945 (GRCm38)	missense	probably damaging	1.00
R8157:Alpk3	UTSW	7	81,093,722 (GRCm38)	missense	probably benign	0.00
R8246:Alpk3	UTSW	7	81,092,776 (GRCm38)	missense	probably benign	0.00
R8357:Alpk3	UTSW	7	81,093,318 (GRCm38)	missense	probably damaging	1.00
R8444:Alpk3	UTSW	7	81,057,720 (GRCm38)	missense	probably benign	0.08
R8457:Alpk3	UTSW	7	81,093,318 (GRCm38)	missense	probably damaging	1.00
R8775:Alpk3	UTSW	7	81,077,850 (GRCm38)	missense	probably benign	0.00
R8775-TAIL:Alpk3	UTSW	7	81,077,850 (GRCm38)	missense	probably benign	0.00
R8794:Alpk3	UTSW	7	81,057,655 (GRCm38)	missense	unknown
R8982:Alpk3	UTSW	7	81,099,002 (GRCm38)	missense	probably damaging	1.00
R9259:Alpk3	UTSW	7	81,093,554 (GRCm38)	missense	probably damaging	1.00
R9343:Alpk3	UTSW	7	81,092,331 (GRCm38)	missense	probably benign	0.27
R9567:Alpk3	UTSW	7	81,092,939 (GRCm38)	missense	possibly damaging	0.55
R9792:Alpk3	UTSW	7	81,101,133 (GRCm38)	critical splice donor site	probably null
R9793:Alpk3	UTSW	7	81,101,133 (GRCm38)	critical splice donor site	probably null
R9798:Alpk3	UTSW	7	81,092,652 (GRCm38)	missense	probably benign	0.02
RF034:Alpk3	UTSW	7	81,092,414 (GRCm38)	small deletion	probably benign
RF057:Alpk3	UTSW	7	81,092,417 (GRCm38)	frame shift	probably null
X0022:Alpk3	UTSW	7	81,093,897 (GRCm38)	missense	probably damaging	0.96
Z1176:Alpk3	UTSW	7	81,078,626 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGGGAGAATGCTTTCTGCTTTGAC -3'
(R):5'- TCAACTCAGTAGTAGAGCCCTGCC -3'

Sequencing Primer
(F):5'- GACAGATCCTACTTTCTGAAGCTGAG -3'
(R):5'- TGCCCTCTAACTCCAGAGAGTG -3'

Posted On

2013-05-09