Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01668:Dmwd'

103363

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dmwd

Ensembl Gene

ENSMUSG00000030410

Gene Name

dystrophia myotonica-containing WD repeat motif

Synonyms

Dm9, 59, DMR-N9

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL01668

Quality Score

Status

Chromosome

Chromosomal Location

19076227-19082776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19081155 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 577 (R577W)

Ref Sequence

ENSEMBL: ENSMUSP00000032570 (fasta)

Gene Model

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

AlphaFold

Q08274

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

probably damaging
Transcript: ENSMUST00000032570
AA Change: R577W

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

SMART Domains

Protein: ENSMUSP00000032570
Gene: ENSMUSG00000030410
AA Change: R577W

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

probably damaging
Transcript: ENSMUST00000108479
AA Change: R577W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104119
Gene: ENSMUSG00000030410
AA Change: R577W

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	G	A	7: 29,537,430		noncoding transcript	Het
Ap3d1	A	G	10: 80,719,159	V444A	possibly damaging	Het
BC022687	T	C	12: 112,809,644	S86P	probably damaging	Het
Chd9	A	T	8: 91,026,776	H1799L	possibly damaging	Het
Cic	C	T	7: 25,291,204	P1108S	possibly damaging	Het
Cldn16	T	A	16: 26,482,546	Y201*	probably null	Het
Col6a6	C	A	9: 105,709,271	R1850S	probably damaging	Het
Cryge	A	G	1: 65,048,698	Y151H	probably damaging	Het
Dhcr7	T	A	7: 143,843,311	V180D	probably damaging	Het
Gm5884	A	G	6: 128,645,414		noncoding transcript	Het
Gm5901	C	T	7: 105,377,564	R180C	probably benign	Het
Hook2	A	T	8: 84,993,578	Y131F	possibly damaging	Het
Hsf1	T	C	15: 76,496,962		probably null	Het
Ighv1-62-3	A	G	12: 115,460,993		probably benign	Het
Ikbke	T	G	1: 131,256,938	D666A	probably benign	Het
Il1r1	C	T	1: 40,313,329	T556I	probably benign	Het
Larp4	T	C	15: 99,987,474	S69P	probably damaging	Het
Lrrc27	G	T	7: 139,227,911		probably benign	Het
March2	A	C	17: 33,703,096	W97G	probably damaging	Het
Olfr1066	A	G	2: 86,455,402	Y290H	probably damaging	Het
Olfr1257	C	A	2: 89,881,099	P91Q	probably benign	Het
Olfr1444	A	G	19: 12,861,867	I31V	probably benign	Het
Pah	T	A	10: 87,578,261	I324N	probably damaging	Het
Pcdhb7	A	G	18: 37,343,152	E447G	probably benign	Het
Prex2	T	C	1: 11,153,645	V731A	probably benign	Het
Prpsap2	A	G	11: 61,755,451	V44A	probably benign	Het
Rp1	T	C	1: 4,345,718	N1724D	probably damaging	Het
Sap130	A	G	18: 31,680,440	N517D	probably damaging	Het
Slc13a3	A	C	2: 165,430,292	F277C	probably damaging	Het
Snx19	A	G	9: 30,427,823	T86A	probably benign	Het
Tbc1d32	A	T	10: 56,123,577	V833D	probably benign	Het
Washc2	A	G	6: 116,262,338	D1290G	probably damaging	Het

Other mutations in Dmwd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Dmwd	APN	7	19081234	splice site	probably null
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
R5265:Dmwd	UTSW	7	19080281	missense	possibly damaging	0.89
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
R8697:Dmwd	UTSW	7	19078188	missense	probably damaging	1.00
R8868:Dmwd	UTSW	7	19080769	missense	probably damaging	1.00
R8971:Dmwd	UTSW	7	19081048	missense	probably damaging	1.00
R9089:Dmwd	UTSW	7	19078055	missense	probably damaging	0.98

Posted On

2014-01-21