Mutagenetix > Incidental Mutation

Incidental Mutation 'R8456:Dtwd1'

655001

Institutional Source

Beutler Lab

Gene Symbol

Dtwd1

Ensembl Gene

ENSMUSG00000023330

Gene Name

DTW domain containing 1

Synonyms

1810033A06Rik

MMRRC Submission

067833-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125994061-126007199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126000451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 129 (E129G)

Ref Sequence

ENSEMBL: ENSMUSP00000106067 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110437] [ENSMUST00000170908]

AlphaFold

Q9D8U7

Predicted Effect

probably damaging
Transcript: ENSMUST00000110437
AA Change: E129G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106067
Gene: ENSMUSG00000023330
AA Change: E129G

Domain	Start	End	E-Value	Type
DTW	65	293	2.33e-58	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170908
AA Change: E129G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127662
Gene: ENSMUSG00000023330
AA Change: E129G

Domain	Start	End	E-Value	Type
DTW	65	293	2.33e-58	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,842,360 (GRCm39)	E1098G	probably benign	Het
Akap1	T	A	11: 88,725,557 (GRCm39)		probably null	Het
Arhgap26	T	C	18: 39,244,901 (GRCm39)	V182A	possibly damaging	Het
Arhgef19	A	G	4: 140,977,926 (GRCm39)	K545R	probably benign	Het
Asph	C	T	4: 9,537,722 (GRCm39)	R352Q	probably benign	Het
B3glct	T	A	5: 149,650,254 (GRCm39)	I119N	probably damaging	Het
Bltp3b	A	G	10: 89,647,954 (GRCm39)	T1339A	probably benign	Het
Camsap3	C	T	8: 3,650,679 (GRCm39)	R236*	probably null	Het
Ccser2	A	T	14: 36,612,331 (GRCm39)	M792K	probably benign	Het
Ceacam5	C	T	7: 17,479,624 (GRCm39)	T247I	possibly damaging	Het
Dnah9	A	G	11: 66,047,764 (GRCm39)	S19P	probably damaging	Het
Ebf3	T	A	7: 136,800,916 (GRCm39)	M490L	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Erbb4	A	G	1: 68,110,789 (GRCm39)	L1008S	probably damaging	Het
Ereg	C	T	5: 91,237,993 (GRCm39)	P160S	possibly damaging	Het
Exoc6b	ATTT	ATTTT	6: 84,821,077 (GRCm39)		probably null	Het
Fmn1	A	G	2: 113,195,385 (GRCm39)	T362A	unknown	Het
Gm14326	A	T	2: 177,590,312 (GRCm39)	D16E	probably benign	Het
H1f8	A	T	6: 115,925,745 (GRCm39)	M181L	probably benign	Het
H3c1	A	T	13: 23,946,083 (GRCm39)	F85Y	probably damaging	Het
Herc6	A	T	6: 57,575,548 (GRCm39)	T190S	probably benign	Het
Lama1	T	G	17: 68,044,491 (GRCm39)	I130S		Het
Letm2	T	C	8: 26,071,729 (GRCm39)	D391G	probably damaging	Het
Map3k9	T	C	12: 81,780,892 (GRCm39)	I423V	probably damaging	Het
Melk	T	A	4: 44,312,191 (GRCm39)	C168S	possibly damaging	Het
Naa16	A	T	14: 79,596,915 (GRCm39)	N356K	probably benign	Het
Nup214	A	G	2: 31,929,372 (GRCm39)	N1873S	probably benign	Het
Or2y1f	C	T	11: 49,184,385 (GRCm39)	P79L	probably damaging	Het
Or8b41	T	A	9: 38,054,981 (GRCm39)	C178*	probably null	Het
Pom121	A	G	5: 135,410,032 (GRCm39)	F1042L	unknown	Het
Pramel51	T	A	12: 88,143,986 (GRCm39)	T284S	probably benign	Het
Pxdn	T	C	12: 30,061,889 (GRCm39)	S1334P	probably damaging	Het
Ranbp1	C	T	16: 18,063,170 (GRCm39)	E69K	probably damaging	Het
Rasl11a	T	C	5: 146,782,045 (GRCm39)	S7P	probably damaging	Het
Rev1	G	A	1: 38,098,324 (GRCm39)	R740*	probably null	Het
Rnf157	C	T	11: 116,240,246 (GRCm39)	V443M	probably benign	Het
Scn3a	T	A	2: 65,291,017 (GRCm39)	T1910S	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	C	CAGCCACGGGGCCTAGCTA	7: 126,066,772 (GRCm39)		probably null	Het
Siah2	T	C	3: 58,583,503 (GRCm39)	N261S	probably benign	Het
Sumf2	T	G	5: 129,889,003 (GRCm39)	W264G	possibly damaging	Het
Tal1	G	T	4: 114,920,625 (GRCm39)	A100S	probably benign	Het
Tmprss9	A	G	10: 80,730,251 (GRCm39)	D717G	possibly damaging	Het
Tox2	G	T	2: 163,046,550 (GRCm39)	R9L	unknown	Het
Traj46	A	G	14: 54,409,795 (GRCm39)	E1G		Het
Unc80	A	G	1: 66,680,788 (GRCm39)	D2128G	possibly damaging	Het
Usp21	A	T	1: 171,112,290 (GRCm39)	F308I	probably damaging	Het
Vgf	A	T	5: 137,061,265 (GRCm39)	I476F	probably damaging	Het
Vps35	G	A	8: 85,987,934 (GRCm39)	T739I	possibly damaging	Het
Wdr95	G	T	5: 149,502,572 (GRCm39)	C279F	probably damaging	Het
Zbtb32	T	C	7: 30,289,381 (GRCm39)	S94G	unknown	Het
Zdhhc13	T	A	7: 48,452,747 (GRCm39)	I153N	probably damaging	Het

Other mutations in Dtwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Dtwd1	APN	2	126,006,739 (GRCm39)	missense	probably damaging	1.00
IGL01380:Dtwd1	APN	2	126,001,847 (GRCm39)	missense	probably benign	0.25
IGL02097:Dtwd1	APN	2	126,006,715 (GRCm39)	missense	probably damaging	1.00
R0991:Dtwd1	UTSW	2	126,001,940 (GRCm39)	missense	probably damaging	1.00
R1103:Dtwd1	UTSW	2	125,996,643 (GRCm39)	missense	probably damaging	1.00
R2145:Dtwd1	UTSW	2	126,001,904 (GRCm39)	missense	probably damaging	1.00
R5249:Dtwd1	UTSW	2	125,996,694 (GRCm39)	missense	probably benign
R5777:Dtwd1	UTSW	2	126,001,733 (GRCm39)	missense	probably damaging	1.00
R5874:Dtwd1	UTSW	2	126,000,359 (GRCm39)	missense	probably damaging	1.00
R5951:Dtwd1	UTSW	2	126,000,342 (GRCm39)	missense	probably benign	0.36
R7261:Dtwd1	UTSW	2	126,000,424 (GRCm39)	missense	probably benign	0.00
R7829:Dtwd1	UTSW	2	126,006,679 (GRCm39)	missense	probably damaging	1.00
R8356:Dtwd1	UTSW	2	126,000,451 (GRCm39)	missense	probably damaging	0.98
R8770:Dtwd1	UTSW	2	125,996,727 (GRCm39)	missense	probably damaging	0.99
R9278:Dtwd1	UTSW	2	126,006,728 (GRCm39)	missense	probably damaging	1.00
R9746:Dtwd1	UTSW	2	125,996,595 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTGCACTCATAGGAACTCAGTC -3'
(R):5'- TCTACAAGCAATACAGACAGGG -3'

Sequencing Primer
(F):5'- GCTTCAGAGCTTATATTGGCAC -3'
(R):5'- TACAAGCAATACAGACAGGGGAATTC -3'

Posted On

2020-10-20