Mutagenetix > Incidental Mutations

Incidental Mutation 'R5265:Dmwd'

401651

Institutional Source

Beutler Lab

Gene Symbol

Dmwd

Ensembl Gene

ENSMUSG00000030410

Gene Name

dystrophia myotonica-containing WD repeat motif

Synonyms

Dm9, 59, DMR-N9

MMRRC Submission

042833-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R5265 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19076227-19082776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19080281 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 285 (N285K)

Ref Sequence

ENSEMBL: ENSMUSP00000104119 (fasta)

Gene Model

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

Predicted Effect

probably benign
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

possibly damaging
Transcript: ENSMUST00000032570
AA Change: N285K

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032570
Gene: ENSMUSG00000030410
AA Change: N285K

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 benign
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

probably benign
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

possibly damaging
Transcript: ENSMUST00000108479
AA Change: N285K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104119
Gene: ENSMUSG00000030410
AA Change: N285K

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

noncoding transcript
Transcript: ENSMUST00000138997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149188

Predicted Effect

probably benign
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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,258,894	W66R	probably damaging	Het
Adamts3	A	G	5: 89,861,552	V84A	possibly damaging	Het
Caap1	C	A	4: 94,501,228	E290*	probably null	Het
Cant1	G	A	11: 118,408,050	R296C	probably damaging	Het
Ccdc114	T	A	7: 45,947,435	D395E	probably damaging	Het
Cdh5	A	T	8: 104,142,739	H699L	probably benign	Het
Cfdp1	T	C	8: 111,830,985	T175A	probably benign	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Comtd1	G	A	14: 21,848,793	T27I	probably benign	Het
Copg1	T	A	6: 87,892,270	V155D	probably damaging	Het
Dag1	A	G	9: 108,207,699	Y748H	possibly damaging	Het
Dsp	A	G	13: 38,195,183	E1968G	possibly damaging	Het
Ednra	A	G	8: 77,667,375	I364T	probably damaging	Het
Elovl3	C	A	19: 46,134,681	T232K	probably damaging	Het
Ercc3	T	A	18: 32,254,243	I503N	probably damaging	Het
Ercc6	C	A	14: 32,569,623	A1008D	probably benign	Het
Gm10563	TTTC	TTTCATTC	4: 155,614,496		probably null	Het
H2-DMb2	G	T	17: 34,148,562	V117F	probably damaging	Het
Helt	A	T	8: 46,292,433	W138R	probably damaging	Het
Itga11	A	T	9: 62,737,412	H215L	probably benign	Het
Kcnn1	T	A	8: 70,854,653	I156F	probably benign	Het
Kdm1b	A	G	13: 47,062,969	N272D	probably benign	Het
Kdm2b	T	C	5: 122,878,588	T1161A	probably damaging	Het
Lin54	A	G	5: 100,485,519	L102P	probably damaging	Het
Mlh1	A	C	9: 111,271,523	M1R	probably null	Het
Naip2	G	A	13: 100,152,560	L1165F	probably damaging	Het
Nfkbiz	A	G	16: 55,819,641	S118P	probably damaging	Het
Nkx3-2	T	A	5: 41,761,848	M266L	probably benign	Het
Npr1	T	C	3: 90,457,002	E771G	probably benign	Het
Obox8	C	T	7: 14,332,029	R188H	probably benign	Het
Olfr187	A	T	16: 59,036,143	V198D	possibly damaging	Het
Olfr497	T	A	7: 108,423,402	V277E	possibly damaging	Het
Palm3	T	C	8: 84,021,530		probably null	Het
Palmd	A	T	3: 116,923,849	V333D	possibly damaging	Het
Pikfyve	A	G	1: 65,267,829	E1747G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ranbp3l	T	A	15: 9,007,203	F127I	probably benign	Het
Rsl1d1	A	G	16: 11,201,384	F97L	possibly damaging	Het
Scaper	A	G	9: 55,864,546	V362A	probably benign	Het
Scg5	A	T	2: 113,776,865	L192*	probably null	Het
Slc34a2	T	C	5: 53,061,434	I198T	probably damaging	Het
Slc45a3	T	A	1: 131,978,194	D318E	possibly damaging	Het
Sorl1	A	G	9: 42,106,516	M105T	possibly damaging	Het
St3gal5	T	A	6: 72,149,131	I320N	probably damaging	Het
Stx17	A	G	4: 48,183,470		probably benign	Het
Syt5	C	T	7: 4,541,075		probably null	Het
Thrap3	A	G	4: 126,167,640	S774P	probably damaging	Het
Tnc	A	T	4: 63,993,206	M1376K	probably benign	Het
Tnks1bp1	T	A	2: 85,062,754	D1008E	probably benign	Het
Trav7-1	G	T	14: 52,655,304	A105S	probably damaging	Het
Vmn1r28	T	A	6: 58,265,964	V264D	probably damaging	Het
Vmn1r44	T	C	6: 89,893,839	V46A	probably benign	Het
Vmn2r10	A	G	5: 108,995,720	I788T	probably damaging	Het
Vmn2r78	T	A	7: 86,920,124	I75N	probably damaging	Het
Zfp821	T	C	8: 109,724,359	M328T	probably damaging	Het
Zfp995	G	A	17: 21,880,623	P210L	possibly damaging	Het

Other mutations in Dmwd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Dmwd	APN	7	19081234	splice site	probably null
IGL01668:Dmwd	APN	7	19081155	missense	probably damaging	1.00
IGL02705:Dmwd	APN	7	19080844	missense	probably benign	0.02
IGL03036:Dmwd	APN	7	19081129	missense	probably damaging	1.00
IGL03133:Dmwd	APN	7	19076637	missense	probably damaging	1.00
PIT4305001:Dmwd	UTSW	7	19080718	missense	probably damaging	0.99
R0172:Dmwd	UTSW	7	19080342	missense	probably damaging	1.00
R1619:Dmwd	UTSW	7	19081034	unclassified	probably benign
R2055:Dmwd	UTSW	7	19076685	missense	probably benign	0.34
R2058:Dmwd	UTSW	7	19080727	missense	probably damaging	1.00
R2403:Dmwd	UTSW	7	19081159	missense	possibly damaging	0.94
R2922:Dmwd	UTSW	7	19076345	missense	probably damaging	1.00
R3122:Dmwd	UTSW	7	19080695	missense	probably damaging	1.00
R4876:Dmwd	UTSW	7	19080547	missense	probably damaging	1.00
R4937:Dmwd	UTSW	7	19081303	critical splice donor site	probably null
R5018:Dmwd	UTSW	7	19078119	missense	probably damaging	0.99
R5034:Dmwd	UTSW	7	19080294	missense	probably damaging	1.00
R5165:Dmwd	UTSW	7	19078035	intron	probably benign
R5559:Dmwd	UTSW	7	19080438	missense	probably damaging	0.99
R6695:Dmwd	UTSW	7	19080727	missense	probably damaging	1.00
R7106:Dmwd	UTSW	7	19080529	missense	probably damaging	1.00
R7208:Dmwd	UTSW	7	19080309	missense	probably benign	0.05
R7681:Dmwd	UTSW	7	19081082	missense	probably benign	0.23
R7683:Dmwd	UTSW	7	19080735	missense	probably damaging	1.00
R7760:Dmwd	UTSW	7	19080735	missense	probably damaging	1.00
R7763:Dmwd	UTSW	7	19080340	missense	probably damaging	1.00
R7814:Dmwd	UTSW	7	19080843	missense	probably benign	0.02
R8000:Dmwd	UTSW	7	19080735	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAAGTGGCTGCCTGAGTC -3'
(R):5'- CACAGTGACTAAGTCATCTTCCC -3'

Sequencing Primer
(F):5'- CCTGAGTCAGAGAGTCTGTTCC -3'
(R):5'- CCTCCTGTCACCACGTAGCG -3'

Posted On

2016-07-06