Mutagenetix > Incidental Mutation

Incidental Mutation 'R0051:Rwdd4a'

16010

Institutional Source

Beutler Lab

Gene Symbol

Rwdd4a

Ensembl Gene

ENSMUSG00000031568

Gene Name

RWD domain containing 4A

Synonyms

MMRRC Submission

038345-MU

Accession Numbers

Essential gene?

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

Stock #

R0051 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

47986680-48005872 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 47990400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033973] [ENSMUST00000039061] [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: ENSMUST00000039061

SMART Domains

Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102

Domain	Start	End	E-Value	Type
Pfam:Foie-gras_1	263	522	3e-78	PFAM
Pfam:Gryzun	978	1114	3.9e-10	PFAM
Pfam:Gryzun-like	1036	1095	2.4e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125065

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

0.0898

Coding Region Coverage

1x: 88.8%
3x: 85.7%
10x: 76.8%
20x: 60.8%

Validation Efficiency

84% (69/82)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330444E15Rik	A	G	7: 29,278,526 (GRCm39)		noncoding transcript	Het
Ankrd11	C	A	8: 123,616,481 (GRCm39)	C2457F	probably damaging	Het
Anks3	G	C	16: 4,765,613 (GRCm39)	T163S	probably benign	Het
Cacna1d	G	A	14: 29,833,052 (GRCm39)	P908S	probably damaging	Het
Ccdc146	C	A	5: 21,521,902 (GRCm39)	R374L	possibly damaging	Het
Cdc45	G	T	16: 18,613,524 (GRCm39)	A348E	probably damaging	Het
Cfap46	A	G	7: 139,255,951 (GRCm39)	C300R	probably damaging	Het
Coq2	T	C	5: 100,811,551 (GRCm39)	N146S	probably benign	Het
Dalrd3	T	C	9: 108,449,414 (GRCm39)	V120A	possibly damaging	Het
Ddx39a	A	G	8: 84,447,251 (GRCm39)	K137R	possibly damaging	Het
Diaph3	A	G	14: 87,274,890 (GRCm39)		probably null	Het
Dmbt1	G	T	7: 130,721,225 (GRCm39)	R1668L	possibly damaging	Het
Dpp7	A	G	2: 25,246,107 (GRCm39)	Y49H	possibly damaging	Het
Drd5	A	G	5: 38,477,957 (GRCm39)	S317G	probably benign	Het
Ecpas	A	G	4: 58,832,729 (GRCm39)	L877S	probably damaging	Het
Ecsit	C	T	9: 21,987,584 (GRCm39)	V152I	probably benign	Het
Eeig1	G	A	2: 32,448,065 (GRCm39)	R58Q	possibly damaging	Het
Fcrl6	A	T	1: 172,426,320 (GRCm39)	L159Q	probably benign	Het
Frrs1	T	C	3: 116,678,946 (GRCm39)		probably benign	Het
Galnt14	C	A	17: 73,814,854 (GRCm39)	R403L	probably benign	Het
Hspd1	A	G	1: 55,121,205 (GRCm39)		probably benign	Het
Klf17	T	C	4: 117,617,589 (GRCm39)	Y256C	probably damaging	Het
Mafg	G	T	11: 120,520,430 (GRCm39)	R57S	probably damaging	Het
Med13l	T	A	5: 118,880,720 (GRCm39)	W1271R	probably damaging	Het
Mrpl4	C	A	9: 20,918,964 (GRCm39)	T203K	probably damaging	Het
Mtrf1l	T	C	10: 5,763,382 (GRCm39)	K316E	probably damaging	Het
Nbeal1	T	A	1: 60,349,422 (GRCm39)	N2361K	probably benign	Het
Ncaph2	T	C	15: 89,253,867 (GRCm39)	S320P	probably damaging	Het
Nek11	A	G	9: 105,095,738 (GRCm39)		probably benign	Het
Ptprn	A	G	1: 75,228,898 (GRCm39)		probably null	Het
Rab37	T	C	11: 115,049,491 (GRCm39)	L100P	probably damaging	Het
Rbm26	A	C	14: 105,389,976 (GRCm39)	V216G	possibly damaging	Het
Rnf115	A	G	3: 96,692,338 (GRCm39)	D178G	probably damaging	Het
Rtel1	C	T	2: 180,992,449 (GRCm39)	Q424*	probably null	Het
Ryr3	T	C	2: 112,699,420 (GRCm39)	D890G	probably damaging	Het
Serpina10	A	G	12: 103,593,156 (GRCm39)		probably benign	Het
Slc43a2	T	C	11: 75,453,676 (GRCm39)	C225R	probably damaging	Het
Slc6a9	T	C	4: 117,722,056 (GRCm39)	F440L	probably damaging	Het
Stk32b	A	G	5: 37,616,940 (GRCm39)		probably benign	Het
Syna	A	G	5: 134,588,397 (GRCm39)	L184P	probably damaging	Het
Tbx10	T	C	19: 4,046,798 (GRCm39)		probably null	Het
Tmprss7	T	C	16: 45,494,302 (GRCm39)	N401S	probably damaging	Het
Tut4	T	G	4: 108,384,201 (GRCm39)	S1089R	probably damaging	Het
Ugt2a3	A	G	5: 87,484,865 (GRCm39)	V53A	probably damaging	Het
Yeats2	T	A	16: 20,012,474 (GRCm39)	Y557*	probably null	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
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
R8864:Rwdd4a	UTSW	8	48,000,876 (GRCm39)	unclassified	probably benign

Posted On

2013-01-08