Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02996:Rwdd1'

407152

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rwdd1

Ensembl Gene

ENSMUSG00000019782

Gene Name

RWD domain containing 1

Synonyms

2610002D06Rik, 2700069A07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02996

Quality Score

Status

Chromosome

Chromosomal Location

33872551-33895612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33878512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 108 (Q108K)

Ref Sequence

ENSEMBL: ENSMUSP00000019917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019917]

AlphaFold

Q9CQK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000019917
AA Change: Q108K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019917
Gene: ENSMUSG00000019782
AA Change: Q108K

Domain	Start	End	E-Value	Type
RWD	10	114	1.53e-26	SMART
low complexity region	123	139	N/A	INTRINSIC
Blast:RWD	157	200	2e-10	BLAST
low complexity region	217	231	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219414

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B4galnt1	C	T	10: 127,002,872 (GRCm39)	R130W	probably damaging	Het
Cd200r3	T	C	16: 44,774,680 (GRCm39)	L231P	probably damaging	Het
Cd200r4	C	A	16: 44,653,396 (GRCm39)	N55K	probably benign	Het
Cyb561d1	C	T	3: 108,106,961 (GRCm39)	R86Q	probably damaging	Het
Dst	T	C	1: 34,227,479 (GRCm39)	S1869P	possibly damaging	Het
Dusp6	T	C	10: 99,100,628 (GRCm39)	V208A	possibly damaging	Het
Dync2h1	A	T	9: 6,935,279 (GRCm39)	V4248E	probably damaging	Het
Exoc6b	T	A	6: 84,885,195 (GRCm39)	D248V	probably benign	Het
Fat4	A	C	3: 39,012,674 (GRCm39)	D2323A	probably damaging	Het
Fbxo6	T	C	4: 148,231,348 (GRCm39)	Y144C	probably damaging	Het
Gm7334	C	A	17: 51,006,084 (GRCm39)	N123K	possibly damaging	Het
Large2	T	C	2: 92,196,273 (GRCm39)	H518R	possibly damaging	Het
Marchf4	G	A	1: 72,468,058 (GRCm39)	Q325*	probably null	Het
Mccc2	C	A	13: 100,097,487 (GRCm39)		probably benign	Het
Mical3	T	C	6: 120,935,519 (GRCm39)	D1669G	probably damaging	Het
Mkrn2	T	C	6: 115,588,868 (GRCm39)	F204L	probably benign	Het
Or1p1	T	C	11: 74,179,991 (GRCm39)	V173A	probably benign	Het
Or8g26	A	G	9: 39,096,361 (GRCm39)	R293G	probably damaging	Het
Pkn3	A	G	2: 29,970,627 (GRCm39)	D148G	probably benign	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Senp3	T	C	11: 69,565,086 (GRCm39)	E496G	probably damaging	Het
St6gal1	T	A	16: 23,139,904 (GRCm39)	V25E	probably damaging	Het
Syt4	T	C	18: 31,577,199 (GRCm39)	K52E	probably damaging	Het
Tap1	C	A	17: 34,410,370 (GRCm39)	A349E	probably damaging	Het
Tfr2	T	A	5: 137,581,728 (GRCm39)	M605K	probably benign	Het
Tmem192	A	G	8: 65,421,442 (GRCm39)		probably null	Het
Trf	T	C	9: 103,098,102 (GRCm39)	E52G	probably benign	Het
Ttn	A	G	2: 76,556,531 (GRCm39)	V30158A	probably damaging	Het
Unc5a	A	G	13: 55,143,991 (GRCm39)	E152G	probably damaging	Het
Vmn2r57	T	A	7: 41,049,165 (GRCm39)	K861N	probably benign	Het

Other mutations in Rwdd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02583:Rwdd1	APN	10	33,877,669 (GRCm39)	nonsense	probably null
R2255:Rwdd1	UTSW	10	33,878,466 (GRCm39)	missense	probably damaging	1.00
R4915:Rwdd1	UTSW	10	33,885,074 (GRCm39)	missense	possibly damaging	0.75
R5981:Rwdd1	UTSW	10	33,885,081 (GRCm39)	missense	probably damaging	1.00
R7610:Rwdd1	UTSW	10	33,877,134 (GRCm39)	missense	probably benign	0.00
R8012:Rwdd1	UTSW	10	33,885,198 (GRCm39)	intron	probably benign
R8212:Rwdd1	UTSW	10	33,878,523 (GRCm39)	missense	probably damaging	1.00
R8848:Rwdd1	UTSW	10	33,884,987 (GRCm39)	critical splice donor site	probably null
R8960:Rwdd1	UTSW	10	33,895,383 (GRCm39)	missense	possibly damaging	0.62
R9269:Rwdd1	UTSW	10	33,888,095 (GRCm39)	missense	probably damaging	0.96
R9712:Rwdd1	UTSW	10	33,877,152 (GRCm39)	missense

Posted On

2016-08-02