Mutagenetix > Incidental Mutation

Incidental Mutation 'R1022:Rwdd2b'

98807

Institutional Source

Beutler Lab

Gene Symbol

Rwdd2b

Ensembl Gene

ENSMUSG00000041079

Gene Name

RWD domain containing 2B

Synonyms

ORF5

MMRRC Submission

039124-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1022 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87230295-87237461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87233738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 121 (C121S)

Ref Sequence

ENSEMBL: ENSMUSP00000049168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039101] [ENSMUST00000039449] [ENSMUST00000232095]

AlphaFold

Q99M03

Predicted Effect

probably damaging
Transcript: ENSMUST00000039101
AA Change: C121S

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

SMART Domains

Protein: ENSMUSP00000049168
Gene: ENSMUSG00000041079
AA Change: C121S

Domain	Start	End	E-Value	Type
RWD	12	136	3.17e-24	SMART
Pfam:DUF1115	162	284	1.6e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000039449

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299

Domain	Start	End	E-Value	Type
low complexity region	160	176	N/A	INTRINSIC
low complexity region	400	410	N/A	INTRINSIC
low complexity region	509	522	N/A	INTRINSIC
low complexity region	553	569	N/A	INTRINSIC
low complexity region	815	832	N/A	INTRINSIC
low complexity region	1380	1392	N/A	INTRINSIC
low complexity region	1427	1451	N/A	INTRINSIC
RING	1716	1762	1.05e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231843

Predicted Effect

probably benign
Transcript: ENSMUST00000232095

Coding Region Coverage

1x: 98.9%
3x: 97.7%
10x: 94.5%
20x: 87.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn2l	A	T	7: 126,096,466 (GRCm39)	N425K	probably benign	Het
Ccar2	A	G	14: 70,377,964 (GRCm39)	S674P	probably damaging	Het
Cdc14b	A	T	13: 64,363,490 (GRCm39)	V257E	probably damaging	Het
Cfap100	T	A	6: 90,389,986 (GRCm39)	T101S	possibly damaging	Het
Dock6	A	T	9: 21,744,908 (GRCm39)	L556H	probably damaging	Het
Dqx1	G	A	6: 83,038,070 (GRCm39)	C486Y	probably damaging	Het
Drd1	T	A	13: 54,207,333 (GRCm39)	M294L	probably benign	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fcho2	A	T	13: 98,869,167 (GRCm39)	I568N	probably damaging	Het
Folr1	A	G	7: 101,507,810 (GRCm39)	M210T	probably damaging	Het
Gatc	T	A	5: 115,478,904 (GRCm39)		probably null	Het
H1f7	G	A	15: 98,154,636 (GRCm39)	T171I	unknown	Het
Hnrnpd	C	A	5: 100,114,016 (GRCm39)	*87L	probably null	Het
Hpd	C	T	5: 123,312,532 (GRCm39)	R279H	possibly damaging	Het
Igfals	G	A	17: 25,099,457 (GRCm39)	V183M	probably damaging	Het
Marchf2	C	A	17: 33,928,762 (GRCm39)	G45C	probably damaging	Het
Myo15a	A	T	11: 60,370,442 (GRCm39)	R1067S	probably benign	Het
Nell1	A	G	7: 49,770,411 (GRCm39)	S157G	probably damaging	Het
Nf1	A	T	11: 79,437,859 (GRCm39)	E2072D	probably damaging	Het
Nop2	T	A	6: 125,114,149 (GRCm39)	V205E	probably benign	Het
Nudt8	T	A	19: 4,051,925 (GRCm39)	W179R	probably damaging	Het
Or4k5	A	T	14: 50,385,384 (GRCm39)	F316I	probably benign	Het
Otx2	TCTGCTGCTGCTGCTGCTG	TCTGCTGCTGCTGCTG	14: 48,896,729 (GRCm39)		probably benign	Het
Prl5a1	G	A	13: 28,333,880 (GRCm39)	V128I	probably damaging	Het
Pth1r	A	T	9: 110,571,295 (GRCm39)	L25Q	probably damaging	Het
Pth1r	T	C	9: 110,558,689 (GRCm39)	D96G	probably benign	Het
Scn10a	A	G	9: 119,438,340 (GRCm39)	I1843T	probably damaging	Het
Sirt5	A	G	13: 43,524,245 (GRCm39)	I6V	probably benign	Het
Slc5a3	G	A	16: 91,874,383 (GRCm39)	A147T	probably damaging	Het
Stxbp1	T	C	2: 32,704,979 (GRCm39)		probably null	Het
Syt3	G	T	7: 44,040,106 (GRCm39)	G113V	probably damaging	Het
Tatdn2	A	G	6: 113,686,506 (GRCm39)	T644A	probably damaging	Het
Trim9	T	A	12: 70,298,791 (GRCm39)		probably null	Het
Tut1	A	G	19: 8,936,719 (GRCm39)	N181S	probably benign	Het
Vmn2r90	A	T	17: 17,948,400 (GRCm39)	I549F	probably damaging	Het

Other mutations in Rwdd2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02000:Rwdd2b	APN	16	87,233,828 (GRCm39)	unclassified	probably benign
IGL02351:Rwdd2b	APN	16	87,234,336 (GRCm39)	missense	probably benign	0.06
IGL02358:Rwdd2b	APN	16	87,234,336 (GRCm39)	missense	probably benign	0.06
R1024:Rwdd2b	UTSW	16	87,233,738 (GRCm39)	missense	probably damaging	1.00
R1086:Rwdd2b	UTSW	16	87,233,446 (GRCm39)	unclassified	probably benign
R1886:Rwdd2b	UTSW	16	87,234,013 (GRCm39)	missense	probably benign	0.08
R2359:Rwdd2b	UTSW	16	87,233,809 (GRCm39)	missense	probably benign	0.06
R4308:Rwdd2b	UTSW	16	87,233,615 (GRCm39)	missense	probably damaging	1.00
R4495:Rwdd2b	UTSW	16	87,231,450 (GRCm39)	missense	probably benign	0.00
R4680:Rwdd2b	UTSW	16	87,233,950 (GRCm39)	critical splice donor site	probably null
R4943:Rwdd2b	UTSW	16	87,231,422 (GRCm39)	missense	possibly damaging	0.54
R6260:Rwdd2b	UTSW	16	87,231,356 (GRCm39)	missense	probably damaging	1.00
R7622:Rwdd2b	UTSW	16	87,231,500 (GRCm39)	missense	probably benign	0.03
R7768:Rwdd2b	UTSW	16	87,233,633 (GRCm39)	missense	probably benign	0.01
R8100:Rwdd2b	UTSW	16	87,233,509 (GRCm39)	missense	possibly damaging	0.90
R9746:Rwdd2b	UTSW	16	87,233,641 (GRCm39)	missense	probably benign	0.05
RF022:Rwdd2b	UTSW	16	87,233,558 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCAGGGACAATTCCTTTGCCCAC -3'
(R):5'- CAGTCCTGCCCGAAATTACAGTGAG -3'

Sequencing Primer
(F):5'- AATTCCTTTGCCCACTCTAGGATG -3'
(R):5'- AATCGTGTCCACTATGCAGG -3'

Posted On

2014-01-09