Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00957:Rhbdd1'

26707

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rhbdd1

Ensembl Gene

ENSMUSG00000026142

Gene Name

rhomboid domain containing 1

Synonyms

4930418P06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

IGL00957

Quality Score

Status

Chromosome

Chromosomal Location

82294178-82423087 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82318362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 82 (Y82H)

Ref Sequence

ENSEMBL: ENSMUSP00000137770 (fasta)

Gene Model

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

AlphaFold

Q8BHC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027322
AA Change: Y82H

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

SMART Domains

Protein: ENSMUSP00000027322
Gene: ENSMUSG00000026142
AA Change: Y82H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000140020
AA Change: Y82H

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

SMART Domains

Protein: ENSMUSP00000137770
Gene: ENSMUSG00000026142
AA Change: Y82H

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	A	1: 63,573,470 (GRCm39)	I246N	probably benign	Het
Adora1	A	G	1: 134,130,951 (GRCm39)	L240P	probably damaging	Het
Ago4	C	T	4: 126,410,926 (GRCm39)	V188I	probably benign	Het
Ccdc138	T	A	10: 58,364,838 (GRCm39)		probably benign	Het
Cpeb4	A	G	11: 31,823,204 (GRCm39)	Y306C	probably damaging	Het
Ctsz	T	C	2: 174,269,771 (GRCm39)	E272G	probably damaging	Het
Dst	G	A	1: 34,267,488 (GRCm39)	V5155I	probably benign	Het
Fabp12	C	T	3: 10,315,273 (GRCm39)		probably null	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Hpcal1	G	A	12: 17,837,591 (GRCm39)	E142K	probably benign	Het
Hspa4	G	A	11: 53,171,514 (GRCm39)	T230I	probably benign	Het
Htt	T	C	5: 34,964,068 (GRCm39)	V387A	probably benign	Het
Loxl3	A	G	6: 83,025,747 (GRCm39)		probably benign	Het
Lrrc30	G	A	17: 67,939,499 (GRCm39)	S27L	probably benign	Het
Mtpn	A	G	6: 35,516,547 (GRCm39)		probably benign	Het
Mug2	A	G	6: 122,017,613 (GRCm39)	Y450C	probably damaging	Het
Ncl	A	G	1: 86,284,091 (GRCm39)		probably null	Het
Or8k23	A	T	2: 86,186,477 (GRCm39)	V83E	possibly damaging	Het
Psmd3	T	A	11: 98,576,394 (GRCm39)	S99T	probably benign	Het
Rb1cc1	G	A	1: 6,319,763 (GRCm39)	A1061T	probably damaging	Het
Slc5a6	T	C	5: 31,196,279 (GRCm39)		probably benign	Het
Sox6	T	C	7: 115,376,327 (GRCm39)	K135R	probably damaging	Het
Tasor2	T	A	13: 3,627,101 (GRCm39)	I950F	possibly damaging	Het
Tbx21	A	G	11: 96,989,920 (GRCm39)	V424A	probably benign	Het
Trpa1	A	T	1: 14,951,892 (GRCm39)	Y936N	probably damaging	Het
Ttn	G	T	2: 76,569,280 (GRCm39)	D25458E	probably damaging	Het
Zfp629	C	T	7: 127,211,896 (GRCm39)	V6M	probably damaging	Het

Other mutations in Rhbdd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Rhbdd1	APN	1	82,318,165 (GRCm39)	missense	possibly damaging	0.94
IGL01771:Rhbdd1	APN	1	82,355,313 (GRCm39)	missense	probably benign	0.41
IGL01980:Rhbdd1	APN	1	82,318,555 (GRCm39)	splice site	probably benign
IGL02654:Rhbdd1	APN	1	82,320,504 (GRCm39)	missense	probably benign	0.16
R0167:Rhbdd1	UTSW	1	82,320,505 (GRCm39)	missense	probably benign	0.00
R2005:Rhbdd1	UTSW	1	82,318,531 (GRCm39)	missense	probably benign	0.00
R2875:Rhbdd1	UTSW	1	82,346,090 (GRCm39)	missense	probably benign	0.02
R2876:Rhbdd1	UTSW	1	82,346,090 (GRCm39)	missense	probably benign	0.02
R4058:Rhbdd1	UTSW	1	82,348,102 (GRCm39)	missense	possibly damaging	0.80
R5572:Rhbdd1	UTSW	1	82,318,531 (GRCm39)	missense	possibly damaging	0.52
R6526:Rhbdd1	UTSW	1	82,318,380 (GRCm39)	missense	probably benign

Posted On

2013-04-17