Mutagenetix > Incidental Mutation

Incidental Mutation 'R7133:Dmpk'

552819

Institutional Source

Beutler Lab

Gene Symbol

Dmpk

Ensembl Gene

ENSMUSG00000030409

Gene Name

dystrophia myotonica-protein kinase

Synonyms

Dm15, DM

MMRRC Submission

045218-MU

Accession Numbers

Essential gene?

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

Stock #

R7133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18817774-18827746 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18821232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 217 (C217S)

Ref Sequence

ENSEMBL: ENSMUSP00000104113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032568] [ENSMUST00000032570] [ENSMUST00000108473] [ENSMUST00000108474] [ENSMUST00000108479] [ENSMUST00000122999] [ENSMUST00000154199]

AlphaFold

P54265

Predicted Effect

probably damaging
Transcript: ENSMUST00000032568
AA Change: C217S

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

SMART Domains

Protein: ENSMUSP00000032568
Gene: ENSMUSG00000030409
AA Change: C217S

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: ENSMUST00000032570

SMART Domains

Protein: ENSMUSP00000032570
Gene: ENSMUSG00000030410

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
low complexity region	44	92	N/A	INTRINSIC
WD40	203	239	4.11e1	SMART
WD40	270	309	3.5e-4	SMART
WD40	312	351	2.01e-4	SMART
WD40	354	436	8.36e-2	SMART
low complexity region	450	471	N/A	INTRINSIC
low complexity region	477	503	N/A	INTRINSIC
Blast:WD40	509	620	1e-43	BLAST
low complexity region	653	662	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108473
AA Change: C217S

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

SMART Domains

Protein: ENSMUSP00000104113
Gene: ENSMUSG00000030409
AA Change: C217S

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

probably damaging
Transcript: ENSMUST00000108474
AA Change: C217S

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

SMART Domains

Protein: ENSMUSP00000104114
Gene: ENSMUSG00000030409
AA Change: C217S

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: ENSMUST00000108479

SMART Domains

Protein: ENSMUSP00000104119
Gene: ENSMUSG00000030410

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
low complexity region	44	92	N/A	INTRINSIC
WD40	203	239	4.11e1	SMART
WD40	270	309	3.5e-4	SMART
WD40	312	351	2.01e-4	SMART
WD40	354	436	8.36e-2	SMART
low complexity region	450	471	N/A	INTRINSIC
low complexity region	477	503	N/A	INTRINSIC
Blast:WD40	509	620	1e-43	BLAST
low complexity region	628	637	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

probably damaging
Transcript: ENSMUST00000154199
AA Change: C217S

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

SMART Domains

Protein: ENSMUSP00000118459
Gene: ENSMUSG00000030409
AA Change: C217S

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (91/93)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,902,473 (GRCm39)	K614N	probably benign	Het
2610008E11Rik	T	G	10: 78,902,474 (GRCm39)	K614T	probably benign	Het
Ahsa1	T	A	12: 87,317,116 (GRCm39)	S120R	probably benign	Het
Anapc16	G	A	10: 59,832,302 (GRCm39)	T37I	possibly damaging	Het
Arid2	C	A	15: 96,276,756 (GRCm39)	P1606H	probably damaging	Het
Ash1l	TATCTCCTTTTCCAAAAA	TA	3: 88,890,764 (GRCm39)		probably null	Het
Asic1	T	A	15: 99,569,968 (GRCm39)	N96K	probably damaging	Het
Asph	A	T	4: 9,484,575 (GRCm39)	D582E	probably benign	Het
Astn1	A	G	1: 158,400,557 (GRCm39)	D528G	probably damaging	Het
Atp9b	A	G	18: 80,952,871 (GRCm39)	V164A		Het
Cbx6	C	T	15: 79,712,866 (GRCm39)	G187D	possibly damaging	Het
Cct7	A	G	6: 85,443,627 (GRCm39)	T332A	probably benign	Het
Clca4a	A	T	3: 144,667,651 (GRCm39)	L440*	probably null	Het
Crybg2	A	T	4: 133,792,754 (GRCm39)	I130F	probably benign	Het
Crybg3	T	C	16: 59,357,167 (GRCm39)	E798G	probably damaging	Het
Ctnnd2	A	G	15: 30,480,995 (GRCm39)	E81G	possibly damaging	Het
Cwc22	C	T	2: 77,759,822 (GRCm39)	R75H	possibly damaging	Het
Cym	T	G	3: 107,121,530 (GRCm39)	D254A	probably damaging	Het
Dcaf11	T	A	14: 55,806,383 (GRCm39)		probably null	Het
Dctn1	A	T	6: 83,157,026 (GRCm39)		probably null	Het
Dennd5a	C	T	7: 109,495,449 (GRCm39)		probably null	Het
Dnah1	C	A	14: 31,008,033 (GRCm39)	V2125L	probably benign	Het
Exoc4	G	A	6: 33,415,408 (GRCm39)	A427T	probably benign	Het
Farp2	G	T	1: 93,548,956 (GRCm39)	V1021F	probably damaging	Het
Flg2	T	C	3: 93,127,069 (GRCm39)	S1994P	unknown	Het
Fmnl1	T	C	11: 103,072,610 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,479,760 (GRCm39)	I1978F	possibly damaging	Het
Gan	T	A	8: 117,913,969 (GRCm39)	C122*	probably null	Het
Gpr25	T	A	1: 136,188,559 (GRCm39)	Y18F	probably damaging	Het
Hoxa7	C	T	6: 52,192,720 (GRCm39)	E223K	probably benign	Het
Hypk	A	G	2: 121,283,961 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,450,172 (GRCm39)	K27*	probably null	Het
Ighv6-5	T	A	12: 114,380,395 (GRCm39)	T41S	probably benign	Het
Ighv9-4	T	C	12: 114,263,757 (GRCm39)	M59V	probably benign	Het
Il17rb	T	C	14: 29,718,828 (GRCm39)	D418G	probably damaging	Het
Ints5	T	A	19: 8,872,923 (GRCm39)	V294E	probably damaging	Het
Irx6	G	A	8: 93,405,041 (GRCm39)	C303Y	probably damaging	Het
Itih3	T	A	14: 30,639,655 (GRCm39)	I389F	probably damaging	Het
Lama1	C	T	17: 68,089,141 (GRCm39)	T1604I		Het
Lama3	C	A	18: 12,672,843 (GRCm39)	Q873K	probably benign	Het
Lhx1	T	G	11: 84,410,746 (GRCm39)	S284R	probably benign	Het
Lrba	T	A	3: 86,302,238 (GRCm39)		probably null	Het
Lrg1	C	T	17: 56,427,592 (GRCm39)	G127R	possibly damaging	Het
Macir	G	A	1: 97,573,645 (GRCm39)	P140L	probably benign	Het
Mapre1	T	A	2: 153,606,883 (GRCm39)	L205H	probably benign	Het
Meltf	A	G	16: 31,711,617 (GRCm39)	N581S	probably damaging	Het
Mgat5	A	C	1: 127,292,926 (GRCm39)	M149L	probably benign	Het
Myh1	A	G	11: 67,093,412 (GRCm39)	T168A	probably benign	Het
Naalad2	C	T	9: 18,238,673 (GRCm39)	V681I	probably benign	Het
Or51e2	A	G	7: 102,391,524 (GRCm39)	S229P	probably damaging	Het
Or52r1c	T	A	7: 102,735,205 (GRCm39)	L155Q	probably damaging	Het
Pcnx2	T	C	8: 126,528,243 (GRCm39)	T1326A	probably benign	Het
Peg3	A	T	7: 6,711,944 (GRCm39)	C1093S	probably damaging	Het
Pidd1	T	C	7: 141,019,813 (GRCm39)	S650G	probably benign	Het
Pik3c2b	T	C	1: 133,017,972 (GRCm39)	S945P	possibly damaging	Het
Plec	T	C	15: 76,060,227 (GRCm39)	T3237A	possibly damaging	Het
Prpf3	A	T	3: 95,741,052 (GRCm39)		probably null	Het
Prpf4b	C	A	13: 35,085,477 (GRCm39)	H974Q	probably benign	Het
Ptpn3	T	C	4: 57,225,863 (GRCm39)	T451A	probably benign	Het
Ptprs	A	G	17: 56,724,429 (GRCm39)	Y1577H	probably damaging	Het
Rgr	C	T	14: 36,770,882 (GRCm39)	M1I	probably null	Het
Rxrg	A	T	1: 167,458,678 (GRCm39)	N257I	probably benign	Het
Sbno2	T	C	10: 79,922,146 (GRCm39)	D9G	probably damaging	Het
Scd1	T	C	19: 44,395,034 (GRCm39)	K64E	probably damaging	Het
Serpinb1a	T	A	13: 33,034,308 (GRCm39)	I28F	possibly damaging	Het
Sfmbt2	A	T	2: 10,406,818 (GRCm39)	E39V	probably damaging	Het
Slc29a1	A	G	17: 45,900,897 (GRCm39)	M89T	possibly damaging	Het
Slco4a1	T	A	2: 180,113,856 (GRCm39)	V431E	possibly damaging	Het
Smg1	C	T	7: 117,752,131 (GRCm39)	C2698Y	unknown	Het
Sptlc2	C	T	12: 87,397,151 (GRCm39)	D212N	probably benign	Het
St6galnac1	T	C	11: 116,657,899 (GRCm39)	T334A	possibly damaging	Het
Stim2	A	T	5: 54,156,263 (GRCm39)	D13V	possibly damaging	Het
Syne1	A	G	10: 5,181,592 (GRCm39)	W4248R	probably damaging	Het
Tanc1	T	C	2: 59,627,953 (GRCm39)	Y584H	probably benign	Het
Thoc6	C	A	17: 23,892,634 (GRCm39)		probably null	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Trip11	T	A	12: 101,850,329 (GRCm39)	Q1245L	probably damaging	Het
Tshz3	A	G	7: 36,469,994 (GRCm39)	D661G	probably benign	Het
Ttll8	C	A	15: 88,799,630 (GRCm39)	V604L	probably damaging	Het
Ubtfl1	A	G	9: 18,320,931 (GRCm39)	D153G	probably damaging	Het
Ufsp2	C	A	8: 46,436,661 (GRCm39)	N137K	probably benign	Het
Ugt2a3	A	G	5: 87,473,393 (GRCm39)	I508T	possibly damaging	Het
Uso1	G	A	5: 92,306,324 (GRCm39)	E94K	probably benign	Het
Usp54	A	G	14: 20,611,310 (GRCm39)	S1169P	probably benign	Het
Vmn1r235	C	T	17: 21,482,292 (GRCm39)	P206S	probably benign	Het
Vmn1r69	T	C	7: 10,314,995 (GRCm39)		probably benign	Het
Zfp263	T	A	16: 3,567,255 (GRCm39)	C523*	probably null	Het
Zfp799	G	T	17: 33,039,210 (GRCm39)	T352K	probably benign	Het
Zfr	T	A	15: 12,180,724 (GRCm39)	V951E	probably damaging	Het
Zfyve26	T	C	12: 79,330,926 (GRCm39)	D431G	probably benign	Het
Zswim9	C	A	7: 12,993,664 (GRCm39)	A831S	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
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
R8886:Dmpk	UTSW	7	18,825,886 (GRCm39)	unclassified	probably benign
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'- CGGGGTCTAGAATTGTAGAATCCTG -3'
(R):5'- AACGGCCTGCAGAATCTCAG -3'

Sequencing Primer
(F):5'- CTAGAATTGTAGAATCCTGGGTGG -3'
(R):5'- TGTGCCAATCAGACCTGAATG -3'

Posted On

2019-05-15