Mutagenetix > Incidental Mutation

Incidental Mutation 'R4058:Rhbdd1'

314314

Institutional Source

Beutler Lab

Gene Symbol

Rhbdd1

Ensembl Gene

ENSMUSG00000026142

Gene Name

rhomboid domain containing 1

Synonyms

4930418P06Rik

MMRRC Submission

040969-MU

Accession Numbers

Essential gene?

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

Stock #

R4058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82294178-82423087 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82348102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 235 (N235D)

Ref Sequence

ENSEMBL: ENSMUSP00000137770 (fasta)

Gene Model

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

AlphaFold

Q8BHC7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027322
AA Change: N235D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027322
Gene: ENSMUSG00000026142
AA Change: N235D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140020
AA Change: N235D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137770
Gene: ENSMUSG00000026142
AA Change: N235D

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

Predicted Effect

Meta Mutation Damage Score

0.0622

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

88% (38/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,586,821 (GRCm39)	V301A	probably benign	Het
Adam15	A	G	3: 89,254,362 (GRCm39)	V145A	possibly damaging	Het
Anxa4	C	T	6: 86,734,800 (GRCm39)		probably null	Het
Aqp9	C	A	9: 71,037,726 (GRCm39)	V184L	probably benign	Het
Atp13a3	C	A	16: 30,173,064 (GRCm39)	C271F	possibly damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cldn34c4	C	A	X: 126,629,060 (GRCm39)	V137F	probably benign	Het
Cngb1	T	C	8: 95,994,282 (GRCm39)	E163G	probably benign	Het
Dync1i1	A	G	6: 5,769,764 (GRCm39)	D113G	probably damaging	Het
Etl4	T	A	2: 20,810,830 (GRCm39)	V971D	possibly damaging	Het
Gys1	A	G	7: 45,097,810 (GRCm39)		probably benign	Het
H13	C	G	2: 152,533,794 (GRCm39)	P227R	probably damaging	Het
Ift22	C	A	5: 136,940,717 (GRCm39)	P84Q	unknown	Het
Igfn1	A	G	1: 135,897,494 (GRCm39)	V1024A	probably benign	Het
Kdm8	T	A	7: 125,055,666 (GRCm39)	Y65N	probably damaging	Het
Lbp	T	A	2: 158,166,550 (GRCm39)	V368E	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Megf6	T	C	4: 154,326,989 (GRCm39)		probably benign	Het
Mettl13	G	T	1: 162,373,755 (GRCm39)	H165Q	probably damaging	Het
Mitd1	C	T	1: 37,920,107 (GRCm39)	S167N	probably benign	Het
Mon2	A	G	10: 122,838,724 (GRCm39)	V1593A	probably benign	Het
Nkx3-2	T	A	5: 41,919,406 (GRCm39)	E194V	possibly damaging	Het
Nup210	A	T	6: 91,037,602 (GRCm39)	V757D	probably benign	Het
Opcml	A	G	9: 28,812,884 (GRCm39)	Y192C	probably damaging	Het
Or10ak7	T	C	4: 118,791,880 (GRCm39)	D53G	probably damaging	Het
Or5m8	T	A	2: 85,822,576 (GRCm39)	S138R	possibly damaging	Het
Pcdha2	A	G	18: 37,072,935 (GRCm39)	S189G	probably benign	Het
Pkd2l2	T	C	18: 34,561,245 (GRCm39)	F418L	probably benign	Het
Plekhg1	A	G	10: 3,907,087 (GRCm39)	D668G	probably damaging	Het
Prep	G	A	10: 45,034,467 (GRCm39)	V660M	probably benign	Het
Qrfprl	T	A	6: 65,358,525 (GRCm39)	I83N	probably damaging	Het
Rgs8	A	G	1: 153,566,742 (GRCm39)	T98A	probably null	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Sgo2b	A	T	8: 64,379,981 (GRCm39)	D950E	probably damaging	Het
Slc1a5	T	C	7: 16,529,778 (GRCm39)	V399A	probably damaging	Het
Spag16	A	T	1: 69,892,487 (GRCm39)	Q89H	probably damaging	Het
Spta1	T	C	1: 174,068,703 (GRCm39)	W2168R	probably damaging	Het
Taok1	T	A	11: 77,440,264 (GRCm39)	K581M	probably benign	Het
Tns3	T	C	11: 8,442,275 (GRCm39)	D696G	probably damaging	Het
Tspan8	C	T	10: 115,671,187 (GRCm39)	R115*	probably null	Het
Txnrd1	A	G	10: 82,721,114 (GRCm39)	E510G	probably benign	Het
Usp45	T	C	4: 21,810,746 (GRCm39)	I314T	probably damaging	Het
Vmn2r15	T	A	5: 109,441,312 (GRCm39)	H182L	probably damaging	Het
Vmn2r76	A	C	7: 85,879,508 (GRCm39)	M264R	probably benign	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
IGL00957:Rhbdd1	APN	1	82,318,362 (GRCm39)	missense	probably damaging	1.00
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
R5572:Rhbdd1	UTSW	1	82,318,531 (GRCm39)	missense	possibly damaging	0.52
R6526:Rhbdd1	UTSW	1	82,318,380 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGTTTCCTAAAGGGTTGGCTC -3'
(R):5'- TGCACCCTGGTTTATCAGCAC -3'

Sequencing Primer
(F):5'- TCCTAAAGGGTTGGCTCTAAAC -3'
(R):5'- GGTTTATCAGCACCCCATCCTG -3'

Posted On

2015-04-30