Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01771:Rhbdd1'

153850

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rhbdd1

Ensembl Gene

ENSMUSG00000026142

Gene Name

rhomboid domain containing 1

Synonyms

4930418P06Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL01771

Quality Score

Status

Chromosome

Chromosomal Location

82316452-82445366 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82377592 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 248 (D248E)

Ref Sequence

ENSEMBL: ENSMUSP00000137770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027322] [ENSMUST00000140020]

Predicted Effect

probably benign
Transcript: ENSMUST00000027322
AA Change: D248E

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027322
Gene: ENSMUSG00000026142
AA Change: D248E

Domain	Start	End	E-Value	Type
Pfam:Rhomboid	60	213	6.1e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140020
AA Change: D248E

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137770
Gene: ENSMUSG00000026142
AA Change: D248E

Domain	Start	End	E-Value	Type
Pfam:Rhomboid	59	213	2.7e-20	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Capn10	T	A	1: 92,940,365	W185R	probably damaging	Het
Frmd8	A	G	19: 5,869,575	L148P	probably damaging	Het
Gk5	T	C	9: 96,177,435	C447R	probably damaging	Het
Hip1r	T	A	5: 123,999,543	V704D	possibly damaging	Het
Kcnj10	C	A	1: 172,369,583	H221Q	probably benign	Het
Klk1b8	A	T	7: 43,954,866	I253L	probably damaging	Het
Olfr1090	C	T	2: 86,754,282	C152Y	probably benign	Het
Olfr204	T	C	16: 59,314,528	N293S	probably damaging	Het
Olfr389	A	T	11: 73,776,664	I221N	probably damaging	Het
Olfr431-ps1	T	C	1: 174,051,321		probably benign	Het
Olfr51	A	G	11: 51,007,766	T265A	probably benign	Het
Pdp2	A	T	8: 104,594,122	Y201F	probably benign	Het
Ppfia1	A	T	7: 144,482,357	I1112K	probably benign	Het
Ppwd1	A	G	13: 104,217,116	I378T	probably damaging	Het
Sec14l5	T	C	16: 5,178,630		probably null	Het
Sel1l3	T	G	5: 53,121,841	D960A	probably damaging	Het
Slc35f3	T	C	8: 126,389,212	Y293H	probably benign	Het
Wwc1	A	G	11: 35,853,358		probably null	Het
Zan	T	C	5: 137,393,068	N4718S	unknown	Het
Zfyve16	T	C	13: 92,522,172	I410M	probably benign	Het

Other mutations in Rhbdd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Rhbdd1	APN	1	82340444	missense	possibly damaging	0.94
IGL00957:Rhbdd1	APN	1	82340641	missense	probably damaging	1.00
IGL01980:Rhbdd1	APN	1	82340834	splice site	probably benign
IGL02654:Rhbdd1	APN	1	82342783	missense	probably benign	0.16
R0167:Rhbdd1	UTSW	1	82342784	missense	probably benign	0.00
R2005:Rhbdd1	UTSW	1	82340810	missense	probably benign	0.00
R2875:Rhbdd1	UTSW	1	82368369	missense	probably benign	0.02
R2876:Rhbdd1	UTSW	1	82368369	missense	probably benign	0.02
R4058:Rhbdd1	UTSW	1	82370381	missense	possibly damaging	0.80
R5572:Rhbdd1	UTSW	1	82340810	missense	possibly damaging	0.52
R6526:Rhbdd1	UTSW	1	82340659	missense	probably benign

Posted On

2014-02-04