Mutagenetix > Incidental Mutation

Incidental Mutation 'RF034:Alpk3'

604490

Institutional Source

Beutler Lab

Gene Symbol

Alpk3

Ensembl Gene

ENSMUSG00000038763

Gene Name

alpha-kinase 3

Synonyms

Midori

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.328) question?

Stock #

RF034 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

80707348-80755360 bp(+) (GRCm39)

Type of Mutation

small deletion (3 aa in frame mutation)

DNA Base Change (assembly)

GAGAAGGCAC to G at 80742162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TGTGGCTGC	TGTGGCTGCGGTGGCTGC	1: 82,891,301 (GRCm39)		probably benign	Het
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTACATCCTGGGCTGCT	4: 155,989,549 (GRCm39)		probably benign	Het
Bltp1	T	TTATTATGATTATTAC	3: 37,104,909 (GRCm39)		probably benign	Het
Cox7a2l	GGA	GGATGGGGA	17: 83,810,151 (GRCm39)		probably benign	Het
Cpne1	TCCAC	TC	2: 155,915,430 (GRCm39)		probably benign	Het
Cyb5r4	CCCAGGGATGTGACAGACACACTG	CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG	9: 86,922,470 (GRCm39)		probably benign	Het
Cyb5r4	GA	GATGTGACAGACACACTGCCCAGGTA	9: 86,922,500 (GRCm39)		probably null	Het
Defb22	TGCGGCA	TGCGGCAGGGCTGGCCTTTGCGGCA	2: 152,327,752 (GRCm39)		probably benign	Het
Dnmt1	GGGCGGAGCACAGTTCCTACCTCGTT	GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT	9: 20,821,416 (GRCm39)		probably null	Het
Fbrsl1	GTG	GTGCGTGTGCTGTTG	5: 110,526,015 (GRCm39)		probably benign	Het
Frem3	GATC	GATCATC	8: 81,341,867 (GRCm39)		probably benign	Het
Gabre	GCTC	GCTCTGTCTC	X: 71,314,368 (GRCm39)		probably benign	Het
Garin5a	GGGTCTGAGGGAGGA	GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA	7: 44,149,947 (GRCm39)		probably null	Het
Gm15155	CAA	CAACAACAAA	X: 155,128,636 (GRCm39)		probably null	Het
Igf1r	GGAGATGGAGC	GGAGATGGAGCTAGAGATGGAGC	7: 67,875,924 (GRCm39)		probably benign	Het
Krtap28-10	CACCACAGC	CACCACAGCCACAGCGACCACAGC	1: 83,020,003 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCGGC	X: 70,162,441 (GRCm39)		probably benign	Het
Map1a	CCAGCTCCAGCTCCA	CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA	2: 121,136,785 (GRCm39)		probably benign	Het
Map1a	GCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA	2: 121,136,788 (GRCm39)		probably benign	Het
Neu1	TCTTCTA	T	17: 35,151,534 (GRCm39)		probably benign	Het
Nolc1	CAGCAGC	CAGCAGCAGAAGCAGC	19: 46,069,810 (GRCm39)		probably benign	Het
Or7g32	G	T	9: 19,388,928 (GRCm39)	A206E	possibly damaging	Het
Pdik1l	TTTT	TTTTGTTTTTGGTTT	4: 134,006,685 (GRCm39)		probably null	Het
Rassf6	CACTCATGGTCCTGTAGAGCAATGGGGATTC	CACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTGACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,771 (GRCm39)		probably benign	Het
Rassf6	CTGTAGAGCAATGGGGATTC	CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC	5: 90,756,782 (GRCm39)		probably benign	Het
Rassf6	ATGGTCCTGTAGAGCAATGGGGATTC	ATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTCGTGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,776 (GRCm39)		probably benign	Het
Rpgrip1	AGAGGAGGA	AGA	14: 52,386,983 (GRCm39)		probably benign	Het
Rprd2	AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC	AGAGGCTGTGGTGCTC	3: 95,673,632 (GRCm39)		probably benign	Het
Rsf1	CG	CGAGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rtbdn	GCGGC	GCGGCATCGGC	8: 85,682,804 (GRCm39)		probably benign	Het
Smarca2	CA	CACCAAGA	19: 26,608,411 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,022 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGTAG	17: 48,097,023 (GRCm39)		probably null	Het
Tmed6	AGC	AGCTGGC	8: 107,788,228 (GRCm39)		probably null	Het
Tomm5	TCTTCCGC	TCTTCCGCAGCTTCCGC	4: 45,107,976 (GRCm39)		probably benign	Het
Trappc9	TG	TGATGCTGCTGCTGCGG	15: 72,673,147 (GRCm39)		probably benign	Het

Other mutations in Alpk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Alpk3	APN	7	80,727,757 (GRCm39)	missense	possibly damaging	0.95
IGL00472:Alpk3	APN	7	80,745,401 (GRCm39)	splice site	probably benign
IGL01732:Alpk3	APN	7	80,707,390 (GRCm39)	missense	unknown
IGL01750:Alpk3	APN	7	80,742,030 (GRCm39)	missense	probably damaging	1.00
IGL01812:Alpk3	APN	7	80,749,950 (GRCm39)	missense	probably damaging	1.00
IGL02224:Alpk3	APN	7	80,726,616 (GRCm39)	splice site	probably benign
IGL02292:Alpk3	APN	7	80,727,653 (GRCm39)	missense	possibly damaging	0.46
IGL02340:Alpk3	APN	7	80,728,255 (GRCm39)	missense	probably benign	0.03
IGL02517:Alpk3	APN	7	80,727,643 (GRCm39)	missense	probably benign	0.00
IGL02725:Alpk3	APN	7	80,743,358 (GRCm39)	missense	possibly damaging	0.91
IGL02755:Alpk3	APN	7	80,743,507 (GRCm39)	missense	possibly damaging	0.71
IGL03035:Alpk3	APN	7	80,728,352 (GRCm39)	missense	probably benign	0.00
IGL03102:Alpk3	APN	7	80,744,804 (GRCm39)	critical splice donor site	probably null
IGL03153:Alpk3	APN	7	80,743,143 (GRCm39)	missense	probably benign	0.00
IGL03255:Alpk3	APN	7	80,742,310 (GRCm39)	missense	probably benign	0.01
IGL03367:Alpk3	APN	7	80,744,738 (GRCm39)	missense	probably benign	0.01
FR4304:Alpk3	UTSW	7	80,727,510 (GRCm39)	small insertion	probably benign
FR4737:Alpk3	UTSW	7	80,727,510 (GRCm39)	small insertion	probably benign
IGL03097:Alpk3	UTSW	7	80,743,657 (GRCm39)	missense	probably benign	0.00
R0092:Alpk3	UTSW	7	80,742,301 (GRCm39)	missense	probably benign
R0254:Alpk3	UTSW	7	80,726,722 (GRCm39)	missense	probably benign	0.43
R0310:Alpk3	UTSW	7	80,728,358 (GRCm39)	missense	possibly damaging	0.61
R0325:Alpk3	UTSW	7	80,717,701 (GRCm39)	missense	possibly damaging	0.58
R0387:Alpk3	UTSW	7	80,753,975 (GRCm39)	missense	possibly damaging	0.93
R0971:Alpk3	UTSW	7	80,742,327 (GRCm39)	missense	possibly damaging	0.55
R1078:Alpk3	UTSW	7	80,728,348 (GRCm39)	missense	probably benign
R1146:Alpk3	UTSW	7	80,727,343 (GRCm39)	missense	probably damaging	0.99
R1146:Alpk3	UTSW	7	80,727,343 (GRCm39)	missense	probably damaging	0.99
R1168:Alpk3	UTSW	7	80,753,105 (GRCm39)	missense	probably damaging	1.00
R1306:Alpk3	UTSW	7	80,743,621 (GRCm39)	missense	probably damaging	1.00
R1822:Alpk3	UTSW	7	80,726,679 (GRCm39)	nonsense	probably null
R2173:Alpk3	UTSW	7	80,726,648 (GRCm39)	missense	probably damaging	1.00
R2350:Alpk3	UTSW	7	80,744,718 (GRCm39)	missense	probably damaging	1.00
R2414:Alpk3	UTSW	7	80,742,501 (GRCm39)	missense	probably benign	0.02
R2417:Alpk3	UTSW	7	80,742,501 (GRCm39)	missense	probably benign	0.02
R2885:Alpk3	UTSW	7	80,749,940 (GRCm39)	missense	probably damaging	1.00
R3004:Alpk3	UTSW	7	80,753,103 (GRCm39)	nonsense	probably null
R3796:Alpk3	UTSW	7	80,742,501 (GRCm39)	missense	probably benign	0.02
R3797:Alpk3	UTSW	7	80,742,501 (GRCm39)	missense	probably benign	0.02
R3798:Alpk3	UTSW	7	80,742,501 (GRCm39)	missense	probably benign	0.02
R3799:Alpk3	UTSW	7	80,742,501 (GRCm39)	missense	probably benign	0.02
R3894:Alpk3	UTSW	7	80,728,138 (GRCm39)	missense	possibly damaging	0.93
R4395:Alpk3	UTSW	7	80,744,703 (GRCm39)	missense	probably damaging	1.00
R4761:Alpk3	UTSW	7	80,753,916 (GRCm39)	missense	probably damaging	0.99
R5505:Alpk3	UTSW	7	80,728,309 (GRCm39)	missense	possibly damaging	0.87
R5540:Alpk3	UTSW	7	80,745,184 (GRCm39)	missense	probably damaging	1.00
R5770:Alpk3	UTSW	7	80,728,310 (GRCm39)	missense	probably benign	0.02
R5941:Alpk3	UTSW	7	80,728,401 (GRCm39)	missense	probably damaging	1.00
R5964:Alpk3	UTSW	7	80,742,008 (GRCm39)	missense	possibly damaging	0.88
R6036:Alpk3	UTSW	7	80,743,005 (GRCm39)	missense	probably benign	0.34
R6036:Alpk3	UTSW	7	80,743,005 (GRCm39)	missense	probably benign	0.34
R6066:Alpk3	UTSW	7	80,726,698 (GRCm39)	missense	possibly damaging	0.89
R6517:Alpk3	UTSW	7	80,728,327 (GRCm39)	missense	possibly damaging	0.54
R6578:Alpk3	UTSW	7	80,728,432 (GRCm39)	missense	probably benign	0.00
R7230:Alpk3	UTSW	7	80,743,042 (GRCm39)	missense	probably damaging	1.00
R7266:Alpk3	UTSW	7	80,742,328 (GRCm39)	missense	possibly damaging	0.55
R7271:Alpk3	UTSW	7	80,728,202 (GRCm39)	missense	possibly damaging	0.92
R7402:Alpk3	UTSW	7	80,726,660 (GRCm39)	missense	probably benign	0.29
R7411:Alpk3	UTSW	7	80,742,600 (GRCm39)	missense	probably benign	0.11
R7454:Alpk3	UTSW	7	80,728,310 (GRCm39)	missense	probably benign	0.02
R7468:Alpk3	UTSW	7	80,750,746 (GRCm39)	nonsense	probably null
R7940:Alpk3	UTSW	7	80,743,693 (GRCm39)	missense	probably damaging	1.00
R8157:Alpk3	UTSW	7	80,743,470 (GRCm39)	missense	probably benign	0.00
R8246:Alpk3	UTSW	7	80,742,524 (GRCm39)	missense	probably benign	0.00
R8357:Alpk3	UTSW	7	80,743,066 (GRCm39)	missense	probably damaging	1.00
R8444:Alpk3	UTSW	7	80,707,468 (GRCm39)	missense	probably benign	0.08
R8457:Alpk3	UTSW	7	80,743,066 (GRCm39)	missense	probably damaging	1.00
R8775:Alpk3	UTSW	7	80,727,598 (GRCm39)	missense	probably benign	0.00
R8775-TAIL:Alpk3	UTSW	7	80,727,598 (GRCm39)	missense	probably benign	0.00
R8794:Alpk3	UTSW	7	80,707,403 (GRCm39)	missense	unknown
R8982:Alpk3	UTSW	7	80,748,750 (GRCm39)	missense	probably damaging	1.00
R9259:Alpk3	UTSW	7	80,743,302 (GRCm39)	missense	probably damaging	1.00
R9343:Alpk3	UTSW	7	80,742,079 (GRCm39)	missense	probably benign	0.27
R9567:Alpk3	UTSW	7	80,742,687 (GRCm39)	missense	possibly damaging	0.55
R9792:Alpk3	UTSW	7	80,750,881 (GRCm39)	critical splice donor site	probably null
R9793:Alpk3	UTSW	7	80,750,881 (GRCm39)	critical splice donor site	probably null
R9798:Alpk3	UTSW	7	80,742,400 (GRCm39)	missense	probably benign	0.02
RF057:Alpk3	UTSW	7	80,742,165 (GRCm39)	frame shift	probably null
X0022:Alpk3	UTSW	7	80,743,645 (GRCm39)	missense	probably damaging	0.96
Z1176:Alpk3	UTSW	7	80,728,374 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTCTGGAAATCAAGGGGC -3'
(R):5'- TCGAAAGCTACAGGAATGCTG -3'

Sequencing Primer
(F):5'- CCACGGAGCCCATGGATAC -3'
(R):5'- TACAGGAATGCTGCCTGCTG -3'

Posted On

2019-12-04