Mutagenetix > Incidental Mutation

Incidental Mutation 'R5165:Dmwd'

395648

Institutional Source

Beutler Lab

Gene Symbol

Dmwd

Ensembl Gene

ENSMUSG00000030410

Gene Name

dystrophia myotonica-containing WD repeat motif

Synonyms

Dm9, DMR-N9, 59

MMRRC Submission

042746-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R5165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18810152-18816701 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 18811960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032570] [ENSMUST00000035521] [ENSMUST00000076887] [ENSMUST00000108479]

AlphaFold

Q08274

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 benign
Transcript: ENSMUST00000035521

SMART Domains

Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
Pfam:Radial_spoke	191	685	2.3e-200	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076887

SMART Domains

Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
Pfam:Radial_spoke	188	287	3e-18	PFAM
Pfam:Radial_spoke	285	433	4.6e-53	PFAM

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

noncoding transcript
Transcript: ENSMUST00000138997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146429

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	T	A	6: 83,503,814 (GRCm39)	I77F	probably benign	Het
Actl6a	G	A	3: 32,774,357 (GRCm39)	V285I	probably benign	Het
Adam9	A	T	8: 25,457,190 (GRCm39)	I646N	possibly damaging	Het
Ahnak	T	C	19: 8,993,029 (GRCm39)	I4771T	possibly damaging	Het
Alas1	T	C	9: 106,118,454 (GRCm39)	T223A	probably damaging	Het
Apc2	A	G	10: 80,151,684 (GRCm39)	E2246G	probably damaging	Het
Atp1a1	A	G	3: 101,489,105 (GRCm39)	I795T	probably benign	Het
Ccn3	A	G	15: 54,612,585 (GRCm39)	D198G	probably damaging	Het
Cdhr4	T	C	9: 107,874,829 (GRCm39)	L633P	probably damaging	Het
Cep350	A	G	1: 155,804,114 (GRCm39)	S990P	probably damaging	Het
Cplx2	A	G	13: 54,526,789 (GRCm39)	I66V	possibly damaging	Het
Cx3cl1	T	C	8: 95,506,504 (GRCm39)	S170P	probably benign	Het
Cyth1	T	C	11: 118,059,908 (GRCm39)	N353S	possibly damaging	Het
Dapp1	T	C	3: 137,644,976 (GRCm39)		probably null	Het
Dsg1c	A	G	18: 20,410,080 (GRCm39)	H516R	probably damaging	Het
Efemp2	T	C	19: 5,525,439 (GRCm39)	C39R	probably damaging	Het
Fnbp4	C	G	2: 90,608,001 (GRCm39)	Q908E	possibly damaging	Het
Foxred2	A	G	15: 77,840,212 (GRCm39)	V26A	probably damaging	Het
Gkap1	A	G	13: 58,411,010 (GRCm39)		probably null	Het
Gstcd	A	C	3: 132,790,440 (GRCm39)	V109G	probably damaging	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcnj9	A	T	1: 172,150,724 (GRCm39)	D296E	probably benign	Het
Kctd18	T	C	1: 57,998,395 (GRCm39)	Y68C	probably damaging	Het
Kif21a	A	T	15: 90,840,579 (GRCm39)	M1179K	probably benign	Het
Lrfn5	T	C	12: 61,886,410 (GRCm39)	I66T	possibly damaging	Het
Lrp12	A	G	15: 39,735,857 (GRCm39)	S692P	probably benign	Het
Lrrc10	A	T	10: 116,881,965 (GRCm39)	N213I	probably benign	Het
Nceh1	G	A	3: 27,295,677 (GRCm39)	V313I	probably benign	Het
Nkx6-3	T	A	8: 23,643,759 (GRCm39)	H53Q	probably damaging	Het
Ntmt2	A	G	1: 163,550,092 (GRCm39)	I53T	probably benign	Het
Or14j7	A	G	17: 38,235,252 (GRCm39)	D265G	probably benign	Het
Or2y16	A	G	11: 49,335,203 (GRCm39)	H175R	probably damaging	Het
Or4f53	T	A	2: 111,087,568 (GRCm39)	V36E	possibly damaging	Het
Or5b97	A	T	19: 12,878,564 (GRCm39)	N193K	probably benign	Het
Oxct1	A	T	15: 4,083,251 (GRCm39)	T157S	possibly damaging	Het
Pcdhga3	A	G	18: 37,808,723 (GRCm39)	E392G	possibly damaging	Het
Polr1a	T	G	6: 71,944,909 (GRCm39)	Y1322D	probably damaging	Het
Prkdc	T	A	16: 15,496,136 (GRCm39)	S776T	probably damaging	Het
Ralgapb	A	G	2: 158,307,832 (GRCm39)	I1047V	possibly damaging	Het
Sertad4	A	T	1: 192,529,130 (GRCm39)	S229T	possibly damaging	Het
Shank2	T	A	7: 143,963,373 (GRCm39)	V327D	possibly damaging	Het
Skint6	A	T	4: 112,722,865 (GRCm39)	V904E	possibly damaging	Het
Slfn8	A	T	11: 82,907,953 (GRCm39)	Y197N	probably damaging	Het
Smo	T	A	6: 29,736,077 (GRCm39)	L23Q	unknown	Het
Snx29	T	A	16: 11,238,639 (GRCm39)	M23K	probably damaging	Het
Synrg	T	C	11: 83,881,761 (GRCm39)	S366P	probably benign	Het
Tomm40	A	G	7: 19,447,592 (GRCm39)		probably null	Het
Tpcn1	T	C	5: 120,696,010 (GRCm39)	E81G	probably damaging	Het
Trappc1	A	G	11: 69,215,060 (GRCm39)	Q26R	probably benign	Het
Ttn	T	A	2: 76,606,900 (GRCm39)		probably null	Het
Usp25	T	A	16: 76,873,293 (GRCm39)	D450E	possibly damaging	Het
Zmynd19	T	A	2: 24,848,201 (GRCm39)	Y132*	probably null	Het

Other mutations in Dmwd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Dmwd	APN	7	18,815,159 (GRCm39)	splice site	probably null
IGL01668:Dmwd	APN	7	18,815,080 (GRCm39)	missense	probably damaging	1.00
IGL02705:Dmwd	APN	7	18,814,769 (GRCm39)	missense	probably benign	0.02
IGL03036:Dmwd	APN	7	18,815,054 (GRCm39)	missense	probably damaging	1.00
IGL03133:Dmwd	APN	7	18,810,562 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Dmwd	UTSW	7	18,814,643 (GRCm39)	missense	probably damaging	0.99
R0172:Dmwd	UTSW	7	18,814,267 (GRCm39)	missense	probably damaging	1.00
R1619:Dmwd	UTSW	7	18,814,959 (GRCm39)	unclassified	probably benign
R2055:Dmwd	UTSW	7	18,810,610 (GRCm39)	missense	probably benign	0.34
R2058:Dmwd	UTSW	7	18,814,652 (GRCm39)	missense	probably damaging	1.00
R2403:Dmwd	UTSW	7	18,815,084 (GRCm39)	missense	possibly damaging	0.94
R2922:Dmwd	UTSW	7	18,810,270 (GRCm39)	missense	probably damaging	1.00
R3122:Dmwd	UTSW	7	18,814,620 (GRCm39)	missense	probably damaging	1.00
R4876:Dmwd	UTSW	7	18,814,472 (GRCm39)	missense	probably damaging	1.00
R4937:Dmwd	UTSW	7	18,815,228 (GRCm39)	critical splice donor site	probably null
R5018:Dmwd	UTSW	7	18,812,044 (GRCm39)	missense	probably damaging	0.99
R5034:Dmwd	UTSW	7	18,814,219 (GRCm39)	missense	probably damaging	1.00
R5265:Dmwd	UTSW	7	18,814,206 (GRCm39)	missense	possibly damaging	0.89
R5559:Dmwd	UTSW	7	18,814,363 (GRCm39)	missense	probably damaging	0.99
R6695:Dmwd	UTSW	7	18,814,652 (GRCm39)	missense	probably damaging	1.00
R7106:Dmwd	UTSW	7	18,814,454 (GRCm39)	missense	probably damaging	1.00
R7208:Dmwd	UTSW	7	18,814,234 (GRCm39)	missense	probably benign	0.05
R7681:Dmwd	UTSW	7	18,815,007 (GRCm39)	missense	probably benign	0.23
R7683:Dmwd	UTSW	7	18,814,660 (GRCm39)	missense	probably damaging	1.00
R7760:Dmwd	UTSW	7	18,814,660 (GRCm39)	missense	probably damaging	1.00
R7763:Dmwd	UTSW	7	18,814,265 (GRCm39)	missense	probably damaging	1.00
R7814:Dmwd	UTSW	7	18,814,768 (GRCm39)	missense	probably benign	0.02
R8000:Dmwd	UTSW	7	18,814,660 (GRCm39)	missense	probably damaging	1.00
R8697:Dmwd	UTSW	7	18,812,113 (GRCm39)	missense	probably damaging	1.00
R8868:Dmwd	UTSW	7	18,814,694 (GRCm39)	missense	probably damaging	1.00
R8971:Dmwd	UTSW	7	18,814,973 (GRCm39)	missense	probably damaging	1.00
R9089:Dmwd	UTSW	7	18,811,980 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTACAGCTGGAAAGACAGGCTC -3'
(R):5'- TGATGAGGTCCAGATACTGCAC -3'

Sequencing Primer
(F):5'- AAGACAGGCTCTGAGGTCTTCAC -3'
(R):5'- TCCAGATACTGCACCTGGC -3'

Posted On

2016-06-21