Mutagenetix > Incidental Mutations

Incidental Mutation 'R7106:Dmwd'

551176

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R7106 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19076227-19082776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19080529 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 368 (V368A)

Ref Sequence

ENSEMBL: ENSMUSP00000032570 (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

probably damaging
Transcript: ENSMUST00000032570
AA Change: V368A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032570
Gene: ENSMUSG00000030410
AA Change: V368A

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: V368A

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

SMART Domains

Protein: ENSMUSP00000104119
Gene: ENSMUSG00000030410
AA Change: V368A

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 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

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

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	T	C	4: 49,541,258	Y138C	probably damaging	Het
Ano7	A	C	1: 93,374,983		probably null	Het
Arvcf	T	A	16: 18,399,049	V497E	probably damaging	Het
Atad2	A	G	15: 58,116,766		probably null	Het
Brinp1	C	T	4: 68,829,378	A163T	probably benign	Het
Catsperd	C	A	17: 56,658,070		probably null	Het
Ccm2l	A	G	2: 153,070,651	H70R	possibly damaging	Het
Cgnl1	G	A	9: 71,725,733	T112I	probably benign	Het
Chid1	T	C	7: 141,522,660	H220R	probably benign	Het
Clca1	A	G	3: 145,027,429	V106A	probably damaging	Het
Cldn23	A	C	8: 35,825,915	S140A	probably benign	Het
Dennd2c	T	C	3: 103,131,577	S14P	possibly damaging	Het
Det1	T	C	7: 78,843,464	D264G	probably damaging	Het
Dnah11	T	C	12: 117,961,149	K3362E	probably benign	Het
Dnah8	T	C	17: 30,741,178	F2208L	probably damaging	Het
Dnaja3	T	C	16: 4,705,934	I477T	probably benign	Het
Dnmt3a	A	G	12: 3,897,591	K482E	probably damaging	Het
Dock7	A	G	4: 98,967,326	I1493T	unknown	Het
Ehbp1l1	A	G	19: 5,718,737	V846A	probably benign	Het
Fbxl4	T	A	4: 22,427,140		probably null	Het
Fgd2	T	A	17: 29,376,970	L534*	probably null	Het
Fgfr3	T	C	5: 33,731,414	V349A	probably damaging	Het
Gal3st1	A	T	11: 3,998,509	I239F	probably damaging	Het
Gpatch3	C	A	4: 133,578,203	H250N	probably benign	Het
Guca1b	A	T	17: 47,391,311	K230*	probably null	Het
Itga3	G	T	11: 95,055,873	L737I	probably benign	Het
Kmt5c	A	G	7: 4,742,706	K122E	probably damaging	Het
Kpna4	G	A	3: 69,079,464	Q531*	probably null	Het
Lctl	A	G	9: 64,132,837	E410G	probably benign	Het
Lhx1	T	C	11: 84,522,077	N128D	probably benign	Het
Lifr	A	G	15: 7,172,924	N349D	probably benign	Het
Map2	G	A	1: 66,410,744	A209T	possibly damaging	Het
Mif4gd	G	A	11: 115,611,911	A25V	probably damaging	Het
Mug2	T	C	6: 122,082,721	S1353P	probably damaging	Het
Myh9	A	G	15: 77,775,121	C931R	probably benign	Het
Nelfe	T	G	17: 34,852,419		probably null	Het
Nrf1	A	G	6: 30,102,184	S161G	probably benign	Het
Pik3c2a	G	A	7: 116,418,133	Q130*	probably null	Het
Prex2	T	A	1: 11,136,793	M525K	probably benign	Het
Psme2	A	G	14: 55,588,237	S165P	probably benign	Het
Rapgef2	A	G	3: 79,066,608	F1477S	probably benign	Het
Rasef	A	T	4: 73,727,627	C502S	probably damaging	Het
Rpap2	T	A	5: 107,633,122	L565*	probably null	Het
Sav1	A	G	12: 69,984,616	I44T	probably damaging	Het
Selp	T	A	1: 164,126,422	I97N	probably benign	Het
Serpina1d	A	G	12: 103,765,721	F293S	probably benign	Het
Sin3b	T	C	8: 72,724,137	F65L	possibly damaging	Het
Sorcs3	G	C	19: 48,705,963	G559R	probably damaging	Het
Susd2	A	T	10: 75,638,053	D689E	probably damaging	Het
Tas1r2	A	T	4: 139,662,049	M448L	probably benign	Het
Tbc1d30	A	T	10: 121,301,992	I181N	possibly damaging	Het
Tcea3	A	G	4: 136,271,368	T318A	probably damaging	Het
Tomm70a	T	C	16: 57,140,758	V358A	probably damaging	Het
Tpp1	A	C	7: 105,749,911	S153A	possibly damaging	Het
Trip13	C	T	13: 73,914,532	V387I	probably benign	Het
Ttn	T	C	2: 76,797,488	I14704V	probably benign	Het
Uimc1	C	A	13: 55,050,815	C516F	possibly damaging	Het
Vit	A	G	17: 78,586,799	N210S	probably benign	Het
Vmn1r22	G	T	6: 57,900,311	T227K	probably damaging	Het
Vmn2r5	A	G	3: 64,491,683	I625T	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,895,021		probably benign	Het
Zfp384	T	C	6: 125,024,259	L98P	probably benign	Het
Zfp809	G	T	9: 22,236,224	K51N	probably benign	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
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
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'- TTGACAGCATGCTTCTGCG -3'
(R):5'- ATGAGGGGAGAGCACATCTTC -3'

Sequencing Primer
(F):5'- CTGCGTGGGCTCATGAAG -3'
(R):5'- CAGGCAGAACTGTGTGTCCTG -3'

Posted On

2019-05-15