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, DMR-N9, 59

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

PIT4305001 (G1)

Quality Score

98.0078

Status

Not validated

Chromosome

Chromosomal Location

18810152-18816701 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18814643 bp (GRCm39)

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: 171,086,610 (GRCm39)	N801D	probably benign	Het
Adcy2	T	C	13: 68,826,721 (GRCm39)	K661R	probably benign	Het
Akap1	A	T	11: 88,735,204 (GRCm39)	M486K	probably benign	Het
Arhgap40	T	A	2: 158,373,825 (GRCm39)	I202N	probably benign	Het
C1qtnf2	T	A	11: 43,382,022 (GRCm39)	L248Q	probably damaging	Het
Casp1	A	T	9: 5,306,135 (GRCm39)	H340L	probably benign	Het
Cd5	A	G	19: 10,703,750 (GRCm39)	V104A	possibly damaging	Het
Celsr1	T	A	15: 85,785,138 (GRCm39)	E3032V	possibly damaging	Het
Cts7	A	G	13: 61,504,386 (GRCm39)	I59T	probably damaging	Het
Cutc	G	T	19: 43,756,708 (GRCm39)	A267S	probably damaging	Het
Dnah6	T	C	6: 73,042,738 (GRCm39)	N3280S	probably benign	Het
Dnah7b	A	T	1: 46,412,508 (GRCm39)	N4039I	probably damaging	Het
Dnaja4	T	C	9: 54,617,918 (GRCm39)	I260T	probably benign	Het
Drd5	T	C	5: 38,477,927 (GRCm39)	F307L	probably damaging	Het
Dsc2	C	T	18: 20,179,300 (GRCm39)	S256N	probably damaging	Het
Dstyk	G	T	1: 132,383,634 (GRCm39)	E617*	probably null	Het
Dusp15	G	A	2: 152,787,396 (GRCm39)	H72Y	probably benign	Het
Dysf	C	T	6: 84,077,216 (GRCm39)	R660*	probably null	Het
Fbxl13	T	A	5: 21,727,146 (GRCm39)	I584L	probably benign	Het
Gsap	T	C	5: 21,391,407 (GRCm39)	L16P	probably damaging	Het
Hgsnat	C	T	8: 26,435,227 (GRCm39)	A636T	possibly damaging	Het
Hivep1	A	G	13: 42,335,147 (GRCm39)	T161A		Het
Hspg2	T	C	4: 137,277,684 (GRCm39)	S2928P	possibly damaging	Het
Ifi214	G	A	1: 173,355,485 (GRCm39)	P108S	probably benign	Het
Il17ra	A	T	6: 120,458,367 (GRCm39)	Y506F	probably damaging	Het
Il9r	T	A	11: 32,144,734 (GRCm39)	Q53L	probably benign	Het
Irf2bp2	C	T	8: 127,319,398 (GRCm39)	G260R	probably damaging	Het
Jdp2	T	A	12: 85,685,626 (GRCm39)	I129N	probably damaging	Het
Kif1b	T	C	4: 149,305,249 (GRCm39)		probably null	Het
Klrd1	A	G	6: 129,573,670 (GRCm39)	T120A	unknown	Het
Lfng	A	G	5: 140,598,283 (GRCm39)	N202D	probably damaging	Het
Ltbp3	A	G	19: 5,802,095 (GRCm39)	E757G	probably damaging	Het
Ltn1	G	A	16: 87,217,211 (GRCm39)	P342L	probably damaging	Het
Lum	A	C	10: 97,404,738 (GRCm39)	Y211S	probably damaging	Het
Ncapd2	G	A	6: 125,160,990 (GRCm39)	R292*	probably null	Het
Nlrc4	T	C	17: 74,753,304 (GRCm39)	T360A	probably damaging	Het
Or4c1	T	C	2: 89,133,727 (GRCm39)	I70V	probably benign	Het
Or7g32	T	C	9: 19,389,357 (GRCm39)	Y63C	probably damaging	Het
Pakap	C	A	4: 57,638,029 (GRCm39)	T22K	possibly damaging	Het
Pde3a	A	G	6: 141,438,036 (GRCm39)	D1035G	probably benign	Het
Phf20l1	A	T	15: 66,484,901 (GRCm39)	K322I	possibly damaging	Het
Pik3r3	A	C	4: 116,149,323 (GRCm39)	N349T	probably benign	Het
Poc1a	A	G	9: 106,227,028 (GRCm39)	Q420R		Het
Prl7d1	A	T	13: 27,898,320 (GRCm39)	M63K	possibly damaging	Het
Rap1gds1	C	A	3: 138,662,061 (GRCm39)	M398I	probably benign	Het
Rapgef6	T	A	11: 54,570,203 (GRCm39)	V1192D	probably damaging	Het
Rif1	T	C	2: 52,001,970 (GRCm39)	V166A		Het
Robo4	T	C	9: 37,322,687 (GRCm39)	Y847H	probably damaging	Het
Sardh	T	C	2: 27,118,326 (GRCm39)	N468S	probably damaging	Het
Sema5a	A	G	15: 32,628,345 (GRCm39)	T553A	probably benign	Het
Serpina12	A	G	12: 104,001,976 (GRCm39)	Y247H	probably damaging	Het
Speer4e2	T	C	5: 15,028,804 (GRCm39)	D29G	probably benign	Het
Ston2	G	T	12: 91,615,276 (GRCm39)	D377E	possibly damaging	Het
Syne1	A	G	10: 5,283,023 (GRCm39)	S1557P	probably damaging	Het
Syt6	C	T	3: 103,482,769 (GRCm39)	R26W	possibly damaging	Het
Tep1	C	T	14: 51,066,684 (GRCm39)	G2305R	possibly damaging	Het
Ticrr	A	G	7: 79,328,771 (GRCm39)	T637A	possibly damaging	Het
Tnn	A	T	1: 159,913,647 (GRCm39)	F1546Y	possibly damaging	Het
Tpr	A	G	1: 150,315,888 (GRCm39)	D2055G	possibly damaging	Het
Trim39	A	G	17: 36,579,862 (GRCm39)	V31A	possibly damaging	Het
Trpc7	G	T	13: 57,035,321 (GRCm39)	T204K	probably benign	Het
Urgcp	T	C	11: 5,667,996 (GRCm39)	Y157C	probably damaging	Het
Vmn1r81	A	T	7: 11,994,590 (GRCm39)	I6K	probably benign	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
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
R5165:Dmwd	UTSW	7	18,811,960 (GRCm39)	intron	probably benign
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'- TCAACGCTGTAGCCTTTGATCC -3'
(R):5'- AGGCTCCATCGATGCACTAG -3'

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

Posted On

2019-06-07