Mutagenetix > Incidental Mutation

Incidental Mutation 'R8864:Rwdd4a'

695731

Institutional Source

Beutler Lab

Gene Symbol

Rwdd4a

Ensembl Gene

ENSMUSG00000031568

Gene Name

RWD domain containing 4A

Synonyms

MMRRC Submission

068680-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R8864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47986680-48005872 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 48000876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033973] [ENSMUST00000175692] [ENSMUST00000176379]

AlphaFold

Q9CPR1

Predicted Effect

probably benign
Transcript: ENSMUST00000033973

SMART Domains

Protein: ENSMUSP00000033973
Gene: ENSMUSG00000031568

Domain	Start	End	E-Value	Type
RWD	9	111	1.07e-12	SMART
low complexity region	131	153	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175692

Predicted Effect

probably benign
Transcript: ENSMUST00000176379

SMART Domains

Protein: ENSMUSP00000135059
Gene: ENSMUSG00000031568

Domain	Start	End	E-Value	Type
RWD	9	111	1.07e-12	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,023,497 (GRCm39)	C297*	probably null	Het
Adamts3	T	C	5: 89,854,981 (GRCm39)		probably benign	Het
Best2	T	A	8: 85,735,942 (GRCm39)	M331L	probably benign	Het
Cachd1	T	A	4: 100,852,026 (GRCm39)	S1207R	probably damaging	Het
Cacna2d3	G	T	14: 29,055,735 (GRCm39)	N298K	probably damaging	Het
Cyp2j12	T	C	4: 96,009,750 (GRCm39)	Y203C	probably damaging	Het
Dnah8	T	C	17: 30,981,616 (GRCm39)	I3046T	possibly damaging	Het
Eif3b	T	C	5: 140,412,287 (GRCm39)	V252A	probably benign	Het
Ergic2	A	G	6: 148,083,393 (GRCm39)	V355A	probably benign	Het
F13a1	C	T	13: 37,061,753 (GRCm39)	G670D	probably damaging	Het
Gfpt1	T	A	6: 87,031,605 (GRCm39)	D82E	probably benign	Het
Ggnbp2	G	A	11: 84,730,902 (GRCm39)	R376C	probably damaging	Het
Grn	T	C	11: 102,327,211 (GRCm39)	F191L	unknown	Het
Ighv1-16	C	T	12: 114,629,619 (GRCm39)	G56D	probably benign	Het
Jrkl	T	C	9: 13,244,326 (GRCm39)	D445G	probably benign	Het
Loxl3	A	G	6: 83,012,739 (GRCm39)	T93A	probably damaging	Het
Lrp1b	C	T	2: 41,002,718 (GRCm39)	A2094T		Het
Lrriq3	T	A	3: 154,893,575 (GRCm39)	D425E	probably damaging	Het
Majin	T	C	19: 6,261,650 (GRCm39)	V55A	possibly damaging	Het
Mapk8ip3	A	T	17: 25,118,492 (GRCm39)	V1192E	probably damaging	Het
Mdga1	T	C	17: 30,150,295 (GRCm39)	S106G	unknown	Het
Mtch2	C	T	2: 90,685,274 (GRCm39)	R135*	probably null	Het
Naip1	T	C	13: 100,562,828 (GRCm39)	N779S	possibly damaging	Het
Nfia	T	C	4: 97,951,382 (GRCm39)	V403A	possibly damaging	Het
Npas4	C	A	19: 5,038,556 (GRCm39)	D121Y	probably damaging	Het
Rab3gap1	C	T	1: 127,837,630 (GRCm39)	R231W	probably damaging	Het
Rangap1	C	G	15: 81,610,270 (GRCm39)		probably benign	Het
Rgs5	T	A	1: 169,517,990 (GRCm39)	F75I	probably benign	Het
Rnf19a	T	C	15: 36,265,452 (GRCm39)	D215G	possibly damaging	Het
Setd5	G	A	6: 113,088,469 (GRCm39)	R199H	probably damaging	Het
Spata31e1	T	C	13: 49,940,988 (GRCm39)	N241D	probably benign	Het
Spef2	T	C	15: 9,599,833 (GRCm39)	Q2004R	unknown	Het
Syne1	T	C	10: 5,370,473 (GRCm39)	K236E	probably benign	Het
Tas2r104	A	G	6: 131,662,632 (GRCm39)	F26L	possibly damaging	Het
Tbc1d32	T	A	10: 55,963,655 (GRCm39)	E954D	probably benign	Het
Tenm2	A	C	11: 35,918,022 (GRCm39)	S1914A	possibly damaging	Het
Tln2	G	T	9: 67,237,834 (GRCm39)	Y32*	probably null	Het
Tnc	C	T	4: 63,911,296 (GRCm39)	R1425H	probably damaging	Het
Unc13b	T	C	4: 43,174,724 (GRCm39)	C1851R	unknown	Het
Wapl	T	A	14: 34,414,159 (GRCm39)	D340E	probably benign	Het
Zfp74	T	C	7: 29,634,235 (GRCm39)	E491G	probably damaging	Het

Other mutations in Rwdd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Rwdd4a	APN	8	47,997,219 (GRCm39)	missense	probably damaging	1.00
IGL01092:Rwdd4a	APN	8	47,997,147 (GRCm39)	missense	possibly damaging	0.96
IGL01717:Rwdd4a	APN	8	47,997,140 (GRCm39)	splice site	probably benign
IGL02268:Rwdd4a	APN	8	48,003,731 (GRCm39)	nonsense	probably null
IGL02813:Rwdd4a	APN	8	47,990,396 (GRCm39)	critical splice donor site	probably null
IGL03023:Rwdd4a	APN	8	47,995,803 (GRCm39)	missense	probably benign	0.00
R0051:Rwdd4a	UTSW	8	47,990,400 (GRCm39)	splice site	probably benign
R0051:Rwdd4a	UTSW	8	47,990,400 (GRCm39)	splice site	probably benign
R0149:Rwdd4a	UTSW	8	47,997,255 (GRCm39)	missense	probably null	0.02
R0179:Rwdd4a	UTSW	8	47,995,742 (GRCm39)	missense	probably damaging	1.00
R5046:Rwdd4a	UTSW	8	47,995,837 (GRCm39)	critical splice donor site	probably null
R5141:Rwdd4a	UTSW	8	48,003,709 (GRCm39)	intron	probably benign
R6280:Rwdd4a	UTSW	8	47,995,832 (GRCm39)	missense	probably benign	0.00
R6742:Rwdd4a	UTSW	8	48,000,998 (GRCm39)	splice site	probably null
R7816:Rwdd4a	UTSW	8	47,990,335 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGGAGCTTTAAGGTCACAAAG -3'
(R):5'- CGCGTCTGAGAAAGAACACC -3'

Sequencing Primer
(F):5'- CTTTAAGGTCACAAAGCTACTGAGAC -3'
(R):5'- GCGTCTGAGAAAGAACACCTAACAG -3'

Posted On

2022-01-21