Mutagenetix > Incidental Mutation

Incidental Mutation 'R4270:Rwdd3'

322121

Institutional Source

Beutler Lab

Gene Symbol

Rwdd3

Ensembl Gene

ENSMUSG00000028133

Gene Name

RWD domain containing 3

Synonyms

3110037C01Rik, 2510027J23Rik, RSUME

MMRRC Submission

041075-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4270 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120949047-120965344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120952550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 147 (D147G)

Ref Sequence

ENSEMBL: ENSMUSP00000129262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039761] [ENSMUST00000106466] [ENSMUST00000106467] [ENSMUST00000164925] [ENSMUST00000170781]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039761
AA Change: D147G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040826
Gene: ENSMUSG00000028133
AA Change: D147G

Domain	Start	End	E-Value	Type
RWD	7	114	3.63e-10	SMART
Pfam:DUF1115	144	262	1.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106465

Predicted Effect

probably damaging
Transcript: ENSMUST00000106466
AA Change: D147G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102074
Gene: ENSMUSG00000028133
AA Change: D147G

Domain	Start	End	E-Value	Type
RWD	7	114	3.63e-10	SMART
Pfam:DUF1115	144	262	1.7e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106467
AA Change: D219G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102075
Gene: ENSMUSG00000028133
AA Change: D219G

Domain	Start	End	E-Value	Type
RWD	7	186	1.52e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164573

SMART Domains

Protein: ENSMUSP00000130734
Gene: ENSMUSG00000028133

Domain	Start	End	E-Value	Type
Blast:RWD	2	36	1e-13	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000164925
AA Change: D49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133036
Gene: ENSMUSG00000028133
AA Change: D49G

Domain	Start	End	E-Value	Type
PDB:2EBK\|A	1	23	2e-6	PDB
Blast:RWD	26	111	6e-42	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164968

Predicted Effect

probably damaging
Transcript: ENSMUST00000170781
AA Change: D147G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129262
Gene: ENSMUSG00000028133
AA Change: D147G

Domain	Start	End	E-Value	Type
RWD	7	114	3.63e-10	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ash1l	T	A	3: 88,889,347 (GRCm39)	C409S	probably benign	Het
Aspg	T	C	12: 112,087,629 (GRCm39)	S327P	probably damaging	Het
Ccdc88c	G	T	12: 100,913,478 (GRCm39)	Q516K	probably damaging	Het
Cdh11	T	A	8: 103,391,258 (GRCm39)	D326V	possibly damaging	Het
Ctsa	G	T	2: 164,677,222 (GRCm39)	M210I	probably benign	Het
Ctsh	A	G	9: 89,943,651 (GRCm39)	H92R	probably damaging	Het
Fanca	A	G	8: 123,995,533 (GRCm39)	L117P	probably damaging	Het
Foxo1	A	G	3: 52,252,826 (GRCm39)	T330A	probably benign	Het
Ighv1-43	C	G	12: 114,909,772 (GRCm39)	G50A	probably benign	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Kif26a	C	T	12: 112,139,848 (GRCm39)	S460F	probably damaging	Het
Mxra8	C	A	4: 155,925,594 (GRCm39)	P98Q	probably damaging	Het
Nbr1	T	C	11: 101,458,048 (GRCm39)	Y276H	possibly damaging	Het
Nckap1l	T	C	15: 103,381,549 (GRCm39)	L430P	possibly damaging	Het
Nubp2	A	T	17: 25,104,567 (GRCm39)	C58S	probably damaging	Het
Or8c10	A	G	9: 38,278,997 (GRCm39)	N52D	probably damaging	Het
Pramel51	A	T	12: 88,145,053 (GRCm39)	I91K	probably damaging	Het
Rbms3	T	A	9: 116,885,816 (GRCm39)	N94I	probably damaging	Het
Rimbp2	T	G	5: 128,896,841 (GRCm39)	N23T	probably benign	Het
Slc30a5	T	G	13: 100,965,521 (GRCm39)	R29S	probably benign	Het
Syt10	C	A	15: 89,675,095 (GRCm39)	R417L	probably benign	Het
Trim58	T	C	11: 58,542,093 (GRCm39)	V351A	probably damaging	Het
Trpc3	G	T	3: 36,717,074 (GRCm39)	Y321*	probably null	Het
Vmn2r107	G	T	17: 20,576,041 (GRCm39)	V124F	probably benign	Het
Xkr7	T	C	2: 152,896,235 (GRCm39)	V363A	possibly damaging	Het
Zfp597	A	T	16: 3,689,954 (GRCm39)	M1K	probably null	Het

Other mutations in Rwdd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Rwdd3	APN	3	120,965,282 (GRCm39)	missense	possibly damaging	0.79
IGL02367:Rwdd3	APN	3	120,952,679 (GRCm39)	missense	probably damaging	0.99
R0466:Rwdd3	UTSW	3	120,952,668 (GRCm39)	missense	possibly damaging	0.82
R0733:Rwdd3	UTSW	3	120,965,256 (GRCm39)	missense	probably benign
R4384:Rwdd3	UTSW	3	120,952,406 (GRCm39)	intron	probably benign
R4650:Rwdd3	UTSW	3	120,952,826 (GRCm39)	missense	probably damaging	1.00
R4960:Rwdd3	UTSW	3	120,952,470 (GRCm39)	missense	probably damaging	1.00
R5061:Rwdd3	UTSW	3	120,953,432 (GRCm39)	intron	probably benign
R6000:Rwdd3	UTSW	3	120,950,162 (GRCm39)	missense	probably damaging	1.00
R6480:Rwdd3	UTSW	3	120,950,101 (GRCm39)	missense	probably damaging	1.00
R7117:Rwdd3	UTSW	3	120,964,987 (GRCm39)	missense	probably benign	0.21
R7471:Rwdd3	UTSW	3	120,964,961 (GRCm39)	missense	probably benign	0.10
R7615:Rwdd3	UTSW	3	120,965,253 (GRCm39)	start gained	probably benign
R8531:Rwdd3	UTSW	3	120,952,788 (GRCm39)	missense	probably benign	0.34
R9055:Rwdd3	UTSW	3	120,952,871 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCATGCTTCGACTAGCTCAC -3'
(R):5'- AGGAAGCTCGTGTCAGAAC -3'

Sequencing Primer
(F):5'- TCGACTAGCTCACTGTTATAAAACAC -3'
(R):5'- AGCTCGTGTCAGAACCGATG -3'

Posted On

2015-06-20