Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4305001:Dmwd'

554556

Institutional Source

Beutler Lab

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: 0.162) question?

Stock #

PIT4305001 (G1)

Quality Score

98.0078

Status

Not validated

Chromosome

Chromosomal Location

19076227-19082776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19080718 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 431 (Q431R)

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: Q431R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032570
Gene: ENSMUSG00000030410
AA Change: Q431R

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: Q431R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104119
Gene: ENSMUSG00000030410
AA Change: Q431R

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: 93.4%
3x: 91.3%
10x: 86.8%
20x: 76.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,259,041	N801D	probably benign	Het
Adcy2	T	C	13: 68,678,602	K661R	probably benign	Het
Akap1	A	T	11: 88,844,378	M486K	probably benign	Het
Arhgap40	T	A	2: 158,531,905	I202N	probably benign	Het
C1qtnf2	T	A	11: 43,491,195	L248Q	probably damaging	Het
Casp1	A	T	9: 5,306,135	H340L	probably benign	Het
Cd5	A	G	19: 10,726,386	V104A	possibly damaging	Het
Celsr1	T	A	15: 85,900,937	E3032V	possibly damaging	Het
Cts7	A	G	13: 61,356,572	I59T	probably damaging	Het
Cutc	G	T	19: 43,768,269	A267S	probably damaging	Het
Dnah6	T	C	6: 73,065,755	N3280S	probably benign	Het
Dnah7b	A	T	1: 46,373,348	N4039I	probably damaging	Het
Dnaja4	T	C	9: 54,710,634	I260T	probably benign	Het
Drd5	T	C	5: 38,320,584	F307L	probably damaging	Het
Dsc2	C	T	18: 20,046,243	S256N	probably damaging	Het
Dstyk	G	T	1: 132,455,896	E617*	probably null	Het
Dusp15	G	A	2: 152,945,476	H72Y	probably benign	Het
Dysf	C	T	6: 84,100,234	R660*	probably null	Het
Fbxl13	T	A	5: 21,522,148	I584L	probably benign	Het
Gm10354	T	C	5: 14,978,790	D29G	probably benign	Het
Gsap	T	C	5: 21,186,409	L16P	probably damaging	Het
Hgsnat	C	T	8: 25,945,199	A636T	possibly damaging	Het
Hivep1	A	G	13: 42,181,671	T161A		Het
Hspg2	T	C	4: 137,550,373	S2928P	possibly damaging	Het
Ifi214	G	A	1: 173,527,919	P108S	probably benign	Het
Il17ra	A	T	6: 120,481,406	Y506F	probably damaging	Het
Il9r	T	A	11: 32,194,734	Q53L	probably benign	Het
Irf2bp2	C	T	8: 126,592,659	G260R	probably damaging	Het
Jdp2	T	A	12: 85,638,852	I129N	probably damaging	Het
Kif1b	T	C	4: 149,220,792		probably null	Het
Klrd1	A	G	6: 129,596,707	T120A	unknown	Het
Lfng	A	G	5: 140,612,528	N202D	probably damaging	Het
Ltbp3	A	G	19: 5,752,067	E757G	probably damaging	Het
Ltn1	G	A	16: 87,420,323	P342L	probably damaging	Het
Lum	A	C	10: 97,568,876	Y211S	probably damaging	Het
Ncapd2	G	A	6: 125,184,027	R292*	probably null	Het
Nlrc4	T	C	17: 74,446,309	T360A	probably damaging	Het
Olfr1231	T	C	2: 89,303,383	I70V	probably benign	Het
Olfr850	T	C	9: 19,478,061	Y63C	probably damaging	Het
Palm2	C	A	4: 57,638,029	T22K	possibly damaging	Het
Pde3a	A	G	6: 141,492,310	D1035G	probably benign	Het
Phf20l1	A	T	15: 66,613,052	K322I	possibly damaging	Het
Pik3r3	A	C	4: 116,292,126	N349T	probably benign	Het
Poc1a	A	G	9: 106,349,829	Q420R		Het
Prl7d1	A	T	13: 27,714,337	M63K	possibly damaging	Het
Rap1gds1	C	A	3: 138,956,300	M398I	probably benign	Het
Rapgef6	T	A	11: 54,679,377	V1192D	probably damaging	Het
Rif1	T	C	2: 52,111,958	V166A		Het
Robo4	T	C	9: 37,411,391	Y847H	probably damaging	Het
Sardh	T	C	2: 27,228,314	N468S	probably damaging	Het
Sema5a	A	G	15: 32,628,199	T553A	probably benign	Het
Serpina12	A	G	12: 104,035,717	Y247H	probably damaging	Het
Ston2	G	T	12: 91,648,502	D377E	possibly damaging	Het
Syne1	A	G	10: 5,333,023	S1557P	probably damaging	Het
Syt6	C	T	3: 103,575,453	R26W	possibly damaging	Het
Tep1	C	T	14: 50,829,227	G2305R	possibly damaging	Het
Ticrr	A	G	7: 79,679,023	T637A	possibly damaging	Het
Tnn	A	T	1: 160,086,077	F1546Y	possibly damaging	Het
Tpr	A	G	1: 150,440,137	D2055G	possibly damaging	Het
Trim39	A	G	17: 36,268,970	V31A	possibly damaging	Het
Trpc7	G	T	13: 56,887,508	T204K	probably benign	Het
Urgcp	T	C	11: 5,717,996	Y157C	probably damaging	Het
Vmn1r81	A	T	7: 12,260,663	I6K	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
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

Predicted Primers

PCR Primer
(F):5'- TCAACGCTGTAGCCTTTGATCC -3'
(R):5'- AGGCTCCATCGATGCACTAG -3'

Sequencing Primer
(F):5'- TGATCCCTACACCACTCGCG -3'
(R):5'- TCGATGCACTAGGCCCAC -3'

Posted On

2019-06-07