Mutagenetix > Incidental Mutation

Incidental Mutation 'R8886:Dmpk'

713482

Institutional Source

Beutler Lab

Gene Symbol

Dmpk

Ensembl Gene

ENSMUSG00000030409

Gene Name

dystrophia myotonica-protein kinase

Synonyms

Dm15, DM

MMRRC Submission

068691-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.421) question?

Stock #

R8886 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18817774-18827746 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 18825886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032568] [ENSMUST00000049454] [ENSMUST00000108473] [ENSMUST00000108474] [ENSMUST00000122999] [ENSMUST00000154199]

AlphaFold

P54265

Predicted Effect

silent
Transcript: ENSMUST00000032568

SMART Domains

Protein: ENSMUSP00000032568
Gene: ENSMUSG00000030409

Domain	Start	End	E-Value	Type
low complexity region	5	31	N/A	INTRINSIC
S_TKc	71	339	6.5e-87	SMART
S_TK_X	340	407	3.6e-11	SMART
Pfam:DMPK_coil	472	532	2.8e-25	PFAM
low complexity region	590	613	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000049454

SMART Domains

Protein: ENSMUSP00000045973
Gene: ENSMUSG00000040841

Domain	Start	End	E-Value	Type
coiled coil region	14	48	N/A	INTRINSIC
Pfam:SIX1_SD	79	189	1.4e-43	PFAM
HOX	194	256	3.11e-14	SMART
low complexity region	300	313	N/A	INTRINSIC
low complexity region	347	358	N/A	INTRINSIC
low complexity region	429	442	N/A	INTRINSIC
low complexity region	564	574	N/A	INTRINSIC
low complexity region	620	639	N/A	INTRINSIC
low complexity region	674	687	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000108473

SMART Domains

Protein: ENSMUSP00000104113
Gene: ENSMUSG00000030409

Domain	Start	End	E-Value	Type
low complexity region	5	31	N/A	INTRINSIC
S_TKc	71	339	1.36e-84	SMART
S_TK_X	340	407	7.5e-9	SMART
Pfam:DMPK_coil	472	532	2.2e-28	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000108474

SMART Domains

Protein: ENSMUSP00000104114
Gene: ENSMUSG00000030409

Domain	Start	End	E-Value	Type
low complexity region	5	31	N/A	INTRINSIC
S_TKc	71	336	2.57e-76	SMART
Pfam:DMPK_coil	446	506	2.4e-28	PFAM
low complexity region	564	587	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122999

SMART Domains

Protein: ENSMUSP00000123516
Gene: ENSMUSG00000030409

Domain	Start	End	E-Value	Type
low complexity region	5	31	N/A	INTRINSIC
PDB:2VD5\|B	32	139	3e-62	PDB
SCOP:d1koba_	44	139	3e-21	SMART
Blast:S_TKc	71	139	7e-36	BLAST

Predicted Effect

silent
Transcript: ENSMUST00000154199

SMART Domains

Protein: ENSMUSP00000118459
Gene: ENSMUSG00000030409

Domain	Start	End	E-Value	Type
low complexity region	5	31	N/A	INTRINSIC
S_TKc	71	339	1.36e-84	SMART
S_TK_X	340	402	5.3e-9	SMART
Pfam:DMPK_coil	467	527	2.3e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a serine/threonine protein kinase that contains coiled-coil and C-terminal membrane association domains. In the embryonic mouse, it is found in cardiac and skeletal myocytes where it appears to play a role in myogenesis. In adults, the transcript is localized to several tissues including brain, heart, and skeletal and smooth muscle, and a function in cytoskeletal remodeling has been described. Transcripts with expanded CUG repeats in the 3' untranslated region mediate alternative splicing of several genes and sequester RNA binding proteins and RNA transcripts that contain CAG repeats, resulting in myotonic dystrophy, an autosomal dominant neuromuscular disorder. Alternative splicing results in multiple protein coding and non-coding transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for a null mutation exhibit abnormal sodium channel gating in cardiac myocytes, cardiac conduction defects, and late-onset progressive skeletal myopathy. Homozygotes for a second null mutation do not develop skeletal myopathy but do have abnormal muscle intracellular calcium levels. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	A	1: 151,882,349 (GRCm39)	N14I	possibly damaging	Het
1700066M21Rik	T	A	1: 57,422,008 (GRCm39)	I128N	probably damaging	Het
4930407I10Rik	G	T	15: 81,950,051 (GRCm39)	S1316I	probably damaging	Het
Abcc9	T	C	6: 142,546,420 (GRCm39)		probably benign	Het
Adgrb3	A	G	1: 25,150,928 (GRCm39)	S1102P	probably damaging	Het
BC061237	A	C	14: 44,741,691 (GRCm39)	I145L	probably benign	Het
Birc7	A	T	2: 180,574,786 (GRCm39)		probably benign	Het
Boc	C	T	16: 44,319,806 (GRCm39)	G393S		Het
Ccdc112	C	T	18: 46,444,826 (GRCm39)	G18R	unknown	Het
Cryzl1	T	A	16: 91,492,188 (GRCm39)	T213S	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,298 (GRCm39)	N916D	probably benign	Het
Cyp4v3	A	T	8: 45,774,785 (GRCm39)	L123*	probably null	Het
Dnah9	A	T	11: 65,943,840 (GRCm39)	V1932E	probably damaging	Het
Ect2	T	C	3: 27,200,126 (GRCm39)		probably benign	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Fkbp10	A	G	11: 100,312,862 (GRCm39)	E336G	probably damaging	Het
Gnptg	T	C	17: 25,453,628 (GRCm39)	S305G	probably benign	Het
Greb1l	A	T	18: 10,553,843 (GRCm39)	I1615F	probably benign	Het
Gse1	G	A	8: 121,297,470 (GRCm39)	R561Q	unknown	Het
Igkv9-129	T	A	6: 67,817,221 (GRCm39)	Y108*	probably null	Het
Igsf10	T	A	3: 59,237,410 (GRCm39)	T924S	probably benign	Het
Itgb6	A	T	2: 60,458,324 (GRCm39)	C476*	probably null	Het
Itih4	C	T	14: 30,617,482 (GRCm39)	Q601*	probably null	Het
Itpk1	G	A	12: 102,550,604 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jakmip3	G	A	7: 138,609,171 (GRCm39)	E92K	probably benign	Het
Klhl29	A	T	12: 5,187,542 (GRCm39)	L274H	possibly damaging	Het
Klk1b5	T	A	7: 43,869,192 (GRCm39)	M122K	probably damaging	Het
Krt84	A	G	15: 101,437,221 (GRCm39)	I314T	possibly damaging	Het
Lama2	A	T	10: 27,245,157 (GRCm39)		probably benign	Het
Lmntd1	T	C	6: 145,363,152 (GRCm39)	T270A	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mt2	A	T	8: 94,899,476 (GRCm39)	M1L	probably damaging	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh11	A	G	16: 14,052,278 (GRCm39)	I396T		Het
Naprt	T	C	15: 75,765,433 (GRCm39)	T136A	probably damaging	Het
Nbea	T	C	3: 55,966,148 (GRCm39)	N438S	probably damaging	Het
Nckap1	C	A	2: 80,339,055 (GRCm39)		probably null	Het
Nop56	G	T	2: 130,117,902 (GRCm39)	R126L	probably damaging	Het
Nts	C	T	10: 102,320,868 (GRCm39)	A74T	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or8b49	T	G	9: 38,506,446 (GRCm39)	F310V	possibly damaging	Het
Pcp2	A	G	8: 3,675,208 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,343,734 (GRCm39)	S752P	probably benign	Het
Pign	C	T	1: 105,512,779 (GRCm39)	V635I	probably benign	Het
Plekhg3	C	A	12: 76,611,748 (GRCm39)	H342Q	possibly damaging	Het
Ppp4c	A	T	7: 126,386,466 (GRCm39)	I177N	probably damaging	Het
Psmd5	A	G	2: 34,747,755 (GRCm39)	F301L	possibly damaging	Het
Rad52	C	T	6: 119,890,041 (GRCm39)	R56C	probably damaging	Het
Rbm20	A	T	19: 53,801,767 (GRCm39)	I92L	probably benign	Het
Rnf213	A	G	11: 119,364,264 (GRCm39)	D4522G		Het
Robo3	T	C	9: 37,328,768 (GRCm39)	E1276G	probably damaging	Het
Rxrb	T	C	17: 34,256,428 (GRCm39)	F500L	probably damaging	Het
Sar1a	A	T	10: 61,522,172 (GRCm39)	N88I	possibly damaging	Het
Scd3	A	G	19: 44,230,276 (GRCm39)	D353G	probably damaging	Het
Sh2d4b	T	C	14: 40,595,946 (GRCm39)		probably benign	Het
Ski	A	T	4: 155,244,016 (GRCm39)	L498Q	probably null	Het
Spocd1	T	A	4: 129,845,631 (GRCm39)	M497K		Het
Sspo	A	G	6: 48,458,201 (GRCm39)	E3299G	possibly damaging	Het
St14	C	A	9: 31,008,420 (GRCm39)	V507F	possibly damaging	Het
Tcf24	G	A	1: 10,037,388 (GRCm39)	T108I	probably benign	Het
Tecta	T	C	9: 42,278,359 (GRCm39)	T1050A	probably benign	Het
Ttc17	T	C	2: 94,205,473 (GRCm39)	D291G	probably benign	Het
Tubgcp2	G	T	7: 139,584,882 (GRCm39)	R518S	probably benign	Het
Ugt2a3	T	C	5: 87,484,358 (GRCm39)	Y222C	probably damaging	Het
Unc5c	C	G	3: 141,509,581 (GRCm39)	A687G	probably benign	Het
Usp42	T	C	5: 143,700,714 (GRCm39)	D1103G	probably damaging	Het
Vmn1r83	A	C	7: 12,055,843 (GRCm39)	D71E	probably benign	Het
Vmn2r3	T	A	3: 64,194,892 (GRCm39)	I9F	possibly damaging	Het
Zfand1	T	C	3: 10,409,862 (GRCm39)	Q160R	probably null	Het
Zhx3	T	C	2: 160,623,216 (GRCm39)	N317S	probably damaging	Het

Other mutations in Dmpk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02198:Dmpk	APN	7	18,822,117 (GRCm39)	missense	probably damaging	0.98
IGL02874:Dmpk	APN	7	18,820,926 (GRCm39)	missense	possibly damaging	0.75
IGL02942:Dmpk	APN	7	18,826,166 (GRCm39)	missense	probably damaging	0.99
IGL03081:Dmpk	APN	7	18,821,458 (GRCm39)	missense	probably damaging	1.00
IGL03258:Dmpk	APN	7	18,826,131 (GRCm39)	critical splice acceptor site	probably null
IGL03302:Dmpk	APN	7	18,820,411 (GRCm39)	splice site	probably benign
P0008:Dmpk	UTSW	7	18,821,987 (GRCm39)	missense	possibly damaging	0.89
R0388:Dmpk	UTSW	7	18,818,002 (GRCm39)	unclassified	probably benign
R0961:Dmpk	UTSW	7	18,821,195 (GRCm39)	missense	probably damaging	0.99
R3103:Dmpk	UTSW	7	18,821,579 (GRCm39)	missense	probably damaging	1.00
R3157:Dmpk	UTSW	7	18,826,944 (GRCm39)	missense	probably benign	0.00
R3158:Dmpk	UTSW	7	18,826,944 (GRCm39)	missense	probably benign	0.00
R3159:Dmpk	UTSW	7	18,826,944 (GRCm39)	missense	probably benign	0.00
R3498:Dmpk	UTSW	7	18,820,306 (GRCm39)	missense	probably damaging	1.00
R4696:Dmpk	UTSW	7	18,822,139 (GRCm39)	missense	probably damaging	1.00
R4830:Dmpk	UTSW	7	18,821,453 (GRCm39)	missense	probably damaging	1.00
R4991:Dmpk	UTSW	7	18,821,944 (GRCm39)	missense	probably benign	0.05
R5156:Dmpk	UTSW	7	18,818,050 (GRCm39)	missense	probably damaging	1.00
R5169:Dmpk	UTSW	7	18,821,944 (GRCm39)	missense	probably benign	0.05
R5170:Dmpk	UTSW	7	18,821,944 (GRCm39)	missense	probably benign	0.05
R5171:Dmpk	UTSW	7	18,821,944 (GRCm39)	missense	probably benign	0.05
R5172:Dmpk	UTSW	7	18,821,944 (GRCm39)	missense	probably benign	0.05
R5198:Dmpk	UTSW	7	18,821,944 (GRCm39)	missense	probably benign	0.05
R5200:Dmpk	UTSW	7	18,821,944 (GRCm39)	missense	probably benign	0.05
R5202:Dmpk	UTSW	7	18,821,944 (GRCm39)	missense	probably benign	0.05
R5205:Dmpk	UTSW	7	18,821,944 (GRCm39)	missense	probably benign	0.05
R5383:Dmpk	UTSW	7	18,821,944 (GRCm39)	missense	probably benign	0.05
R5449:Dmpk	UTSW	7	18,824,916 (GRCm39)	missense	probably benign	0.18
R5639:Dmpk	UTSW	7	18,826,525 (GRCm39)	missense	probably benign	0.22
R5874:Dmpk	UTSW	7	18,826,007 (GRCm39)	intron	probably benign
R6939:Dmpk	UTSW	7	18,822,149 (GRCm39)	missense	probably damaging	0.97
R7133:Dmpk	UTSW	7	18,821,232 (GRCm39)	missense	probably damaging	1.00
R7352:Dmpk	UTSW	7	18,819,997 (GRCm39)	missense	probably damaging	0.98
R8032:Dmpk	UTSW	7	18,821,978 (GRCm39)	missense	possibly damaging	0.63
R8234:Dmpk	UTSW	7	18,822,048 (GRCm39)	missense	probably benign	0.00
R9052:Dmpk	UTSW	7	18,821,614 (GRCm39)	missense	probably damaging	0.99
R9235:Dmpk	UTSW	7	18,822,141 (GRCm39)	missense	probably damaging	1.00
R9420:Dmpk	UTSW	7	18,824,946 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGAAGAAGAGGTTCTCACCC -3'
(R):5'- TACATGGGAAGGTGGATCCGTG -3'

Sequencing Primer
(F):5'- AAGAGGTTCTCACCCGGCAG -3'
(R):5'- CCCGTGATGGCTGGAAG -3'

Posted On

2022-05-19