Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02654:Rhbdd1'

302264

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: 0.098) question?

Stock #

IGL02654

Quality Score

Status

Chromosome

Chromosomal Location

82316452-82445366 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82342783 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 163 (V163F)

Ref Sequence

ENSEMBL: ENSMUSP00000137770 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027322
AA Change: V163F

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027322
Gene: ENSMUSG00000026142
AA Change: V163F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140020
AA Change: V163F

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137770
Gene: ENSMUSG00000026142
AA Change: V163F

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,927,826	I468T	possibly damaging	Het
Anxa13	A	G	15: 58,342,001		noncoding transcript	Het
Arhgef33	A	G	17: 80,370,311	Y429C	probably damaging	Het
BC024978	A	G	7: 27,203,873	E289G	probably damaging	Het
Bdh1	T	C	16: 31,456,615		probably benign	Het
C77080	C	T	4: 129,222,319	G851R	probably damaging	Het
Dennd4a	A	G	9: 64,910,191		probably benign	Het
Dld	G	T	12: 31,333,917	H396N	probably benign	Het
Dsg1b	T	C	18: 20,409,262	V942A	probably damaging	Het
Eln	A	T	5: 134,717,054		probably benign	Het
Fat3	G	A	9: 15,996,975	T2577M	possibly damaging	Het
Gad1	A	T	2: 70,572,781	K73M	possibly damaging	Het
Gipc1	T	C	8: 83,663,151	V253A	probably damaging	Het
Gm21671	T	A	5: 25,953,207	H49L	probably benign	Het
Gtpbp10	A	C	5: 5,543,372		probably benign	Het
Hgf	A	T	5: 16,561,051	T62S	probably benign	Het
Hivep1	T	C	13: 42,157,685	S1134P	probably damaging	Het
Hnrnpc	A	G	14: 52,084,117	L80S	probably damaging	Het
Kif20a	G	A	18: 34,632,023	R770H	probably damaging	Het
Lcat	T	C	8: 105,939,769	T374A	possibly damaging	Het
Mlana	A	G	19: 29,704,618		probably null	Het
Nynrin	A	G	14: 55,863,259	I169V	possibly damaging	Het
Olfr697	A	T	7: 106,741,348	Y195*	probably null	Het
P3h3	A	G	6: 124,845,265	V585A	possibly damaging	Het
Pcdhb17	T	A	18: 37,486,561	M468K	probably benign	Het
Prl8a2	T	G	13: 27,352,797	I134S	possibly damaging	Het
Rev3l	T	C	10: 39,862,734	V2828A	probably damaging	Het
Rrp1	A	G	10: 78,412,939	V5A	probably benign	Het
Sephs1	A	T	2: 4,884,555	N48I	probably benign	Het
Vmn1r71	A	G	7: 10,748,315	Y149H	probably benign	Het
Wiz	T	C	17: 32,359,350	D396G	probably damaging	Het
Xirp2	A	G	2: 67,514,671	S2419G	possibly damaging	Het
Zfp128	A	G	7: 12,884,679	T35A	possibly damaging	Het
Zmym2	T	A	14: 56,911,315	F362Y	probably damaging	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
IGL01771:Rhbdd1	APN	1	82377592	missense	probably benign	0.41
IGL01980:Rhbdd1	APN	1	82340834	splice site	probably benign
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

2015-04-16