Mutagenetix > Incidental Mutation

Incidental Mutation 'R4920:Dtwd2'

378536

Institutional Source

Beutler Lab

Gene Symbol

Dtwd2

Ensembl Gene

ENSMUSG00000024505

Gene Name

DTW domain containing 2

Synonyms

8030470C17Rik, 1190002H09Rik

MMRRC Submission

042522-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R4920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49829212-49888668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 49831507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 167 (R167S)

Ref Sequence

ENSEMBL: ENSMUSP00000128219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025383] [ENSMUST00000163590]

AlphaFold

Q9D0U1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025383
AA Change: R263S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025383
Gene: ENSMUSG00000024505
AA Change: R263S

Domain	Start	End	E-Value	Type
low complexity region	10	26	N/A	INTRINSIC
low complexity region	32	45	N/A	INTRINSIC
DTW	65	260	4.42e-59	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139852

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163590
AA Change: R167S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128219
Gene: ENSMUSG00000024505
AA Change: R167S

Domain	Start	End	E-Value	Type
low complexity region	10	26	N/A	INTRINSIC
low complexity region	32	45	N/A	INTRINSIC
DTW	65	164	3.12e-4	SMART

Meta Mutation Damage Score

0.1935

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 87.9%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092K14Rik	A	T	11: 114,089,871 (GRCm39)		noncoding transcript	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Apbb1ip	A	G	2: 22,709,696 (GRCm39)	D51G	unknown	Het
Bmal1	A	G	7: 112,884,321 (GRCm39)	T120A	probably damaging	Het
Brca1	A	T	11: 101,415,785 (GRCm39)	V783D	probably damaging	Het
Ccdc141	T	C	2: 76,998,907 (GRCm39)	D58G	probably damaging	Het
Ccr9	G	T	9: 123,608,504 (GRCm39)	G62V	probably damaging	Het
Ces2b	T	C	8: 105,563,538 (GRCm39)	Y422H	probably benign	Het
Cpa4	T	C	6: 30,568,462 (GRCm39)		probably null	Het
Dennd3	A	G	15: 73,412,574 (GRCm39)	H412R	probably benign	Het
Dpy19l3	A	T	7: 35,407,467 (GRCm39)		probably benign	Het
Dync1i2	G	A	2: 71,077,668 (GRCm39)	R243Q	probably damaging	Het
Ear2	G	A	14: 44,340,582 (GRCm39)	G80E	probably damaging	Het
Fam171b	A	G	2: 83,710,703 (GRCm39)	K792E	possibly damaging	Het
Fam83b	G	A	9: 76,399,150 (GRCm39)	T651I	probably benign	Het
Fcrl5	T	G	3: 87,351,480 (GRCm39)	F243V	probably damaging	Het
Galntl6	T	C	8: 58,880,807 (GRCm39)	I115M	probably damaging	Het
Glrx3	A	G	7: 137,065,859 (GRCm39)	D163G	probably null	Het
Gm14488	A	T	2: 30,605,044 (GRCm39)		noncoding transcript	Het
Gm973	T	C	1: 59,666,725 (GRCm39)	S683P	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Gsdmd	T	C	15: 75,736,206 (GRCm39)	S112P	probably damaging	Het
Ighv14-3	A	G	12: 114,023,877 (GRCm39)	V6A	probably benign	Het
Lca5l	T	A	16: 95,980,035 (GRCm39)	S32C	probably damaging	Het
Lrba	T	A	3: 86,571,765 (GRCm39)	Y260*	probably null	Het
Lyst	T	C	13: 13,821,645 (GRCm39)	S1340P	possibly damaging	Het
Mfsd13a	T	G	19: 46,355,655 (GRCm39)	F59V	probably damaging	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Noa1	T	C	5: 77,454,334 (GRCm39)		probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Pgm1	C	T	4: 99,843,930 (GRCm39)	T571M	probably damaging	Het
Pramel23	T	C	4: 143,425,853 (GRCm39)	D30G	probably benign	Het
Rfc1	C	A	5: 65,445,271 (GRCm39)	V460F	probably damaging	Het
Rrn3	A	G	16: 13,608,503 (GRCm39)	D182G	probably benign	Het
Sap25	T	A	5: 137,640,507 (GRCm39)		probably benign	Het
Slc9a2	A	G	1: 40,794,878 (GRCm39)	I480V	probably benign	Het
Smo	T	C	6: 29,759,593 (GRCm39)	S642P	probably damaging	Het
Tbc1d22a	A	C	15: 86,195,949 (GRCm39)	I307L	probably benign	Het
Tent2	G	A	13: 93,322,833 (GRCm39)	Q39*	probably null	Het
Ubr3	A	G	2: 69,783,212 (GRCm39)	Q716R	probably benign	Het
Vmn2r96	A	G	17: 18,802,918 (GRCm39)	E276G	probably benign	Het
Zfp189	G	A	4: 49,529,302 (GRCm39)	C135Y	probably damaging	Het

Other mutations in Dtwd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Dtwd2	APN	18	49,856,776 (GRCm39)	nonsense	probably null
IGL00858:Dtwd2	APN	18	49,861,452 (GRCm39)	missense	probably damaging	1.00
R0575:Dtwd2	UTSW	18	49,831,539 (GRCm39)	missense	probably damaging	1.00
R0691:Dtwd2	UTSW	18	49,861,424 (GRCm39)	splice site	probably benign
R2336:Dtwd2	UTSW	18	49,833,320 (GRCm39)	splice site	probably benign
R4110:Dtwd2	UTSW	18	49,831,373 (GRCm39)	utr 3 prime	probably benign
R4543:Dtwd2	UTSW	18	49,857,175 (GRCm39)	splice site	probably null
R8246:Dtwd2	UTSW	18	49,831,492 (GRCm39)	missense	probably benign	0.21
R8722:Dtwd2	UTSW	18	49,833,385 (GRCm39)	missense	probably damaging	1.00
R9213:Dtwd2	UTSW	18	49,856,799 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCGTCCTTCAGCACAAGAATGG -3'
(R):5'- GCCATTGCTCCTCATAGTTAAAAG -3'

Sequencing Primer
(F):5'- ATGGGCCAACGATTCTTCAG -3'
(R):5'- GATGTAGATAGAATACAAGTTGAC -3'

Posted On

2016-04-15