Mutagenetix > Incidental Mutation

Incidental Mutation 'R7763:Dmwd'

598021

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

045819-MU

Accession Numbers

Essential gene?

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

Stock #

R7763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18810152-18816701 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18814265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 305 (L305Q)

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: L305Q

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

SMART Domains

Protein: ENSMUSP00000032570
Gene: ENSMUSG00000030410
AA Change: L305Q

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: L305Q

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

SMART Domains

Protein: ENSMUSP00000104119
Gene: ENSMUSG00000030410
AA Change: L305Q

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: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,113,825 (GRCm39)	W899R	probably damaging	Het
Abca5	A	T	11: 110,163,323 (GRCm39)	W1631R	possibly damaging	Het
Actg2	T	A	6: 83,504,350 (GRCm39)	D25V	probably damaging	Het
Akap10	G	C	11: 61,806,331 (GRCm39)	D132E	probably damaging	Het
Angptl2	G	T	2: 33,132,394 (GRCm39)	E334*	probably null	Het
Aprt	T	C	8: 123,301,674 (GRCm39)	R165G	probably benign	Het
Bmp1	A	G	14: 70,729,524 (GRCm39)	F549S	probably damaging	Het
Capzb	C	T	4: 139,007,864 (GRCm39)	T215I	probably benign	Het
Car14	C	T	3: 95,811,684 (GRCm39)	M1I	probably null	Het
Ccdc148	T	A	2: 58,713,648 (GRCm39)	Q501L	probably benign	Het
Ccdc32	G	A	2: 118,857,828 (GRCm39)	T12I	probably damaging	Het
Ccnf	G	A	17: 24,443,986 (GRCm39)	S594L	probably damaging	Het
Cdadc1	C	T	14: 59,811,283 (GRCm39)	C409Y	probably damaging	Het
Cdh23	G	T	10: 60,148,356 (GRCm39)	S2670R	probably damaging	Het
Cdh8	T	A	8: 100,006,306 (GRCm39)	K94*	probably null	Het
Cdhr2	A	T	13: 54,865,505 (GRCm39)	Y193F	probably damaging	Het
Cdon	T	A	9: 35,365,711 (GRCm39)	Y153*	probably null	Het
Chd1	G	A	17: 15,953,303 (GRCm39)	G413R	probably damaging	Het
Cit	A	T	5: 116,125,060 (GRCm39)	T1582S	probably benign	Het
Clec4a3	T	C	6: 122,941,299 (GRCm39)	L98P	probably benign	Het
Cpa4	T	A	6: 30,583,644 (GRCm39)	D253E	probably damaging	Het
Cyp2c40	T	A	19: 39,795,612 (GRCm39)	N189I	possibly damaging	Het
Daam2	G	T	17: 49,797,050 (GRCm39)	A245E	probably benign	Het
Dennd5b	A	G	6: 148,970,156 (GRCm39)	F121S	probably damaging	Het
Dgkd	A	G	1: 87,854,671 (GRCm39)	T658A	probably benign	Het
Dnah5	A	T	15: 28,314,001 (GRCm39)	Y1939F	probably damaging	Het
Dock5	T	C	14: 68,058,776 (GRCm39)	T512A	probably damaging	Het
Dop1b	T	A	16: 93,552,402 (GRCm39)	D398E	probably benign	Het
Eef1akmt4	A	G	16: 20,437,279 (GRCm39)	H207R	probably damaging	Het
Egfr	T	C	11: 16,841,266 (GRCm39)	V719A	probably damaging	Het
Ep300	A	T	15: 81,470,784 (GRCm39)		probably benign	Het
Epha4	A	G	1: 77,366,668 (GRCm39)		probably null	Het
Erc2	T	G	14: 27,598,161 (GRCm39)		probably null	Het
Ergic1	A	T	17: 26,857,801 (GRCm39)	Y209F	possibly damaging	Het
Fbxw28	A	G	9: 109,155,701 (GRCm39)	I357T	probably damaging	Het
Flnb	A	T	14: 7,926,478 (GRCm38)	T1841S	probably benign	Het
Foxc1	G	A	13: 31,992,011 (GRCm39)	S274N	probably benign	Het
Fto	C	T	8: 92,136,071 (GRCm39)	T115M	probably damaging	Het
Gm10228	C	G	16: 88,838,187 (GRCm39)	C39S	unknown	Het
Gm7334	T	C	17: 51,005,743 (GRCm39)	F10L	possibly damaging	Het
Hfm1	A	G	5: 107,029,727 (GRCm39)	Y785H	probably damaging	Het
Hivep1	T	A	13: 42,312,937 (GRCm39)	S1726T	probably benign	Het
Htt	G	T	5: 35,009,534 (GRCm39)	C1505F	probably damaging	Het
Hydin	T	C	8: 111,232,475 (GRCm39)	S1665P	possibly damaging	Het
Ifi209	T	A	1: 173,470,445 (GRCm39)	N344K	probably damaging	Het
Ifnar2	T	C	16: 91,196,181 (GRCm39)	M262T	probably benign	Het
Ighv7-3	T	A	12: 114,116,827 (GRCm39)	S112C	probably damaging	Het
Igkv4-86	A	G	6: 68,887,563 (GRCm39)	S59P	probably benign	Het
Iglv1	A	G	16: 18,904,239 (GRCm39)		probably benign	Het
Ipo7	T	A	7: 109,652,006 (GRCm39)	D928E	possibly damaging	Het
Itgae	G	T	11: 73,014,095 (GRCm39)		probably null	Het
Kbtbd12	T	A	6: 88,595,179 (GRCm39)	Q217L	probably benign	Het
Kcnma1	T	A	14: 23,350,074 (GRCm39)	Y1155F	possibly damaging	Het
Kif14	A	G	1: 136,444,121 (GRCm39)	E1371G	probably benign	Het
Lilrb4a	A	T	10: 51,367,142 (GRCm39)	Y10F	probably benign	Het
Lrp2	A	T	2: 69,333,732 (GRCm39)	V1503E	probably damaging	Het
Mfsd6	A	T	1: 52,747,799 (GRCm39)	D355E	probably benign	Het
Mri1	T	C	8: 84,977,657 (GRCm39)	H226R		Het
Mroh4	C	T	15: 74,496,554 (GRCm39)	E278K	probably damaging	Het
Muc4	T	A	16: 32,574,739 (GRCm39)	L1063H	probably benign	Het
Mzf1	A	T	7: 12,778,018 (GRCm39)	I541N	probably damaging	Het
Nasp	T	A	4: 116,469,230 (GRCm39)	E116D	probably benign	Het
Nlrp10	T	A	7: 108,525,033 (GRCm39)	E149V	probably damaging	Het
Notch4	G	A	17: 34,801,392 (GRCm39)	C1080Y	probably damaging	Het
Nova1	T	G	12: 46,767,481 (GRCm39)	I147L	unknown	Het
Ogdh	A	G	11: 6,288,558 (GRCm39)	M223V	probably benign	Het
Or2a56	T	C	6: 42,932,723 (GRCm39)	I97T	probably benign	Het
Or2y1e	G	T	11: 49,218,498 (GRCm39)	A87S	probably benign	Het
Or4n4	A	T	14: 50,518,945 (GRCm39)	I255N	probably damaging	Het
Or6c66b	G	T	10: 129,377,324 (GRCm39)	R306L	probably benign	Het
P3h3	T	C	6: 124,831,395 (GRCm39)	Q330R	probably benign	Het
Pcdhb10	A	G	18: 37,544,935 (GRCm39)	T4A	not run	Het
Pkd2l2	A	T	18: 34,566,340 (GRCm39)		probably null	Het
Plekhb1	C	T	7: 100,294,870 (GRCm39)	V168I	probably benign	Het
Plxna4	C	T	6: 32,200,915 (GRCm39)	R753H	probably damaging	Het
Pramel17	T	C	4: 101,694,338 (GRCm39)	I182V	possibly damaging	Het
Prex1	G	C	2: 166,555,629 (GRCm39)	P4A	unknown	Het
Ptgdr	A	G	14: 45,096,535 (GRCm39)	V59A	probably damaging	Het
Ralgapa1	T	A	12: 55,804,740 (GRCm39)	I519F	probably benign	Het
Rbpms	A	G	8: 34,279,481 (GRCm39)	I170T	probably benign	Het
Sec31b	T	A	19: 44,512,274 (GRCm39)		probably null	Het
Skint11	A	T	4: 114,084,905 (GRCm39)	Y138F	probably benign	Het
Slain2	A	G	5: 73,105,953 (GRCm39)	Y196C	probably damaging	Het
Slco1b2	T	A	6: 141,621,950 (GRCm39)	C503*	probably null	Het
Slfn3	A	T	11: 83,105,614 (GRCm39)	Y537F	possibly damaging	Het
Slu7	T	C	11: 43,335,592 (GRCm39)	Y443H	probably damaging	Het
Sorl1	T	A	9: 41,955,205 (GRCm39)	E683D	probably damaging	Het
Sos1	T	A	17: 80,721,142 (GRCm39)	I893L	probably benign	Het
St8sia2	T	A	7: 73,593,069 (GRCm39)	Y329F	probably damaging	Het
Stra6l	C	A	4: 45,869,570 (GRCm39)	S212*	probably null	Het
Syne3	C	T	12: 104,963,754 (GRCm39)		probably benign	Het
Tenm4	T	A	7: 96,544,899 (GRCm39)	I2342N	probably benign	Het
Tescl	T	A	7: 24,032,688 (GRCm39)	E212D	probably benign	Het
Trip11	A	G	12: 101,811,114 (GRCm39)	S1879P	probably benign	Het
Ube2c	A	T	2: 164,613,211 (GRCm39)		probably null	Het
Umodl1	T	A	17: 31,205,430 (GRCm39)	I675N	probably benign	Het
Vipr2	T	C	12: 116,086,338 (GRCm39)	F121S	probably damaging	Het
Vmn1r206	A	T	13: 22,804,839 (GRCm39)	S123T	possibly damaging	Het
Vmn1r58	A	G	7: 5,413,912 (GRCm39)	V106A	probably damaging	Het
Vmn2r112	A	G	17: 22,822,099 (GRCm39)	Y259C	probably damaging	Het
Vmn2r66	T	C	7: 84,654,909 (GRCm39)	K467E	probably benign	Het
Vmn2r98	T	C	17: 19,300,797 (GRCm39)	F600L	probably benign	Het
Vps13a	T	A	19: 16,723,364 (GRCm39)	N278I	possibly damaging	Het
Vwa5a	A	C	9: 38,652,458 (GRCm39)	D747A	possibly damaging	Het
Xdh	G	A	17: 74,241,829 (GRCm39)	P157S	possibly damaging	Het
Xrn1	G	A	9: 95,880,401 (GRCm39)		probably null	Het
Zfp362	T	A	4: 128,680,824 (GRCm39)	H180L	probably benign	Het
Zfp560	A	T	9: 20,258,619 (GRCm39)	W748R	possibly damaging	Het
Zfp808	A	T	13: 62,320,478 (GRCm39)	Q569L	probably benign	Het
Zfp93	T	A	7: 23,974,643 (GRCm39)	D209E	possibly damaging	Het
Zftraf1	A	T	15: 76,542,747 (GRCm39)	Y138N	probably damaging	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
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
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'- GTACCTCTACAACGTCAGTCAC -3'
(R):5'- AAAGGCTACAGCGTTGACCC -3'

Sequencing Primer
(F):5'- TCTACAACGTCAGTCACCCCTG -3'
(R):5'- TACAGCGTTGACCCAGGACTTG -3'

Posted On

2019-11-26