Mutagenetix > Incidental Mutation

Incidental Mutation 'R4278:Rhbdd3'

322772

Institutional Source

Beutler Lab

Gene Symbol

Rhbdd3

Ensembl Gene

ENSMUSG00000034175

Gene Name

rhomboid domain containing 3

Synonyms

5730411O18Rik

MMRRC Submission

068968-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5048926-5056093 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5055329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 226 (T226I)

Ref Sequence

ENSEMBL: ENSMUSP00000105504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036320] [ENSMUST00000062821] [ENSMUST00000101610] [ENSMUST00000109878] [ENSMUST00000148761] [ENSMUST00000139742] [ENSMUST00000150632] [ENSMUST00000134267] [ENSMUST00000163299]

AlphaFold

Q8BP97

Predicted Effect

probably benign
Transcript: ENSMUST00000036320

SMART Domains

Protein: ENSMUSP00000044703
Gene: ENSMUSG00000034175

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Rhomboid	44	185	2.2e-7	PFAM
SCOP:d1ifya_	308	351	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062821

SMART Domains

Protein: ENSMUSP00000061704
Gene: ENSMUSG00000034164

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:EMI	34	101	8.7e-18	PFAM
low complexity region	200	211	N/A	INTRINSIC
low complexity region	220	267	N/A	INTRINSIC
Pfam:Collagen	282	342	5e-10	PFAM
Pfam:Collagen	312	377	4.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101610
AA Change: T226I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099131
Gene: ENSMUSG00000034175
AA Change: T226I

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Rhomboid	44	187	2.5e-7	PFAM
Pfam:UBA	323	358	3.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109878
AA Change: T226I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105504
Gene: ENSMUSG00000034175
AA Change: T226I

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Rhomboid	44	187	2e-7	PFAM
SCOP:d1ifya_	318	361	2e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132196

Predicted Effect

probably benign
Transcript: ENSMUST00000132328

SMART Domains

Protein: ENSMUSP00000117779
Gene: ENSMUSG00000034164

Domain	Start	End	E-Value	Type
low complexity region	1	44	N/A	INTRINSIC
Pfam:Collagen	59	113	4.5e-10	PFAM
Pfam:Collagen	89	152	2e-13	PFAM
low complexity region	154	169	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146879

Predicted Effect

probably benign
Transcript: ENSMUST00000148761

SMART Domains

Protein: ENSMUSP00000120264
Gene: ENSMUSG00000034175

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Rhomboid	44	187	3.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139742

Predicted Effect

probably benign
Transcript: ENSMUST00000153308

SMART Domains

Protein: ENSMUSP00000125605
Gene: ENSMUSG00000034164

Domain	Start	End	E-Value	Type
Pfam:Collagen	1	49	1.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150632

Predicted Effect

probably benign
Transcript: ENSMUST00000151906

SMART Domains

Protein: ENSMUSP00000124014
Gene: ENSMUSG00000034164

Domain	Start	End	E-Value	Type
Pfam:Collagen	2	68	8.4e-14	PFAM
low complexity region	72	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134267

Predicted Effect

probably benign
Transcript: ENSMUST00000163299

SMART Domains

Protein: ENSMUSP00000131391
Gene: ENSMUSG00000034164

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:EMI	33	101	7.3e-24	PFAM
low complexity region	198	209	N/A	INTRINSIC
low complexity region	218	265	N/A	INTRINSIC
Pfam:Collagen	280	340	5.1e-10	PFAM
Pfam:Collagen	310	375	4.3e-12	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered stimulated NK cell activation and acute inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anln	A	G	9: 22,245,296 (GRCm39)		probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Bltp3b	T	G	10: 89,642,571 (GRCm39)		probably null	Het
Capza3	T	A	6: 139,987,786 (GRCm39)	Y128*	probably null	Het
Ccdc187	T	A	2: 26,172,239 (GRCm39)		probably benign	Het
Dpp4	T	C	2: 62,209,667 (GRCm39)	R119G	probably damaging	Het
Espn	T	C	4: 152,218,874 (GRCm39)	D308G	probably damaging	Het
Gm9857	T	C	3: 108,847,419 (GRCm39)		probably benign	Het
Hhatl	G	A	9: 121,613,285 (GRCm39)	A470V	probably benign	Het
Igfals	A	T	17: 25,100,191 (GRCm39)	E427D	probably benign	Het
Il22ra1	C	T	4: 135,478,024 (GRCm39)	A365V	possibly damaging	Het
Kctd6	G	C	14: 8,222,806 (GRCm38)	R216P	probably damaging	Het
Lama1	A	T	17: 68,098,512 (GRCm39)	M1864L	probably null	Het
Mbd5	T	G	2: 49,162,305 (GRCm39)	I37S	probably damaging	Het
Nsf	C	A	11: 103,821,632 (GRCm39)	A5S	probably damaging	Het
Nsun5	A	G	5: 135,398,914 (GRCm39)	Y26C	probably damaging	Het
Or9q1	A	G	19: 13,805,793 (GRCm39)		probably benign	Het
Pitpnm3	C	T	11: 71,965,342 (GRCm39)	V164I	probably damaging	Het
Plk2	A	G	13: 110,532,637 (GRCm39)	K117R	probably benign	Het
Ppp1r13b	G	T	12: 111,796,818 (GRCm39)	N908K	probably damaging	Het
Rapgef4	T	A	2: 72,028,739 (GRCm39)	N385K	possibly damaging	Het
Rbp3	G	A	14: 33,680,607 (GRCm39)	V1070I	probably benign	Het
Slc27a3	C	T	3: 90,296,495 (GRCm39)		probably benign	Het
Slc30a2	G	A	4: 134,073,360 (GRCm39)	E136K	probably null	Het
Sptlc2	A	C	12: 87,382,925 (GRCm39)	I393R	probably benign	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn1r80	G	T	7: 11,927,454 (GRCm39)	C188F	probably benign	Het
Vwa2	C	A	19: 56,891,915 (GRCm39)	Q283K	probably benign	Het
Zfp52	A	G	17: 21,782,132 (GRCm39)	K660R	probably benign	Het

Other mutations in Rhbdd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02157:Rhbdd3	APN	11	5,055,424 (GRCm39)	unclassified	probably benign
IGL02376:Rhbdd3	APN	11	5,053,192 (GRCm39)	unclassified	probably benign
R1387:Rhbdd3	UTSW	11	5,054,121 (GRCm39)	missense	probably damaging	1.00
R1438:Rhbdd3	UTSW	11	5,053,332 (GRCm39)	missense	probably damaging	1.00
R4196:Rhbdd3	UTSW	11	5,049,460 (GRCm39)	unclassified	probably benign
R4554:Rhbdd3	UTSW	11	5,055,946 (GRCm39)	missense	probably benign	0.03
R4809:Rhbdd3	UTSW	11	5,055,949 (GRCm39)	missense	probably damaging	0.99
R5594:Rhbdd3	UTSW	11	5,055,710 (GRCm39)	missense	probably damaging	1.00
R5687:Rhbdd3	UTSW	11	5,055,707 (GRCm39)	missense	probably damaging	1.00
R7863:Rhbdd3	UTSW	11	5,053,236 (GRCm39)	missense	probably benign	0.23
R7876:Rhbdd3	UTSW	11	5,055,832 (GRCm39)	missense	possibly damaging	0.91
R8138:Rhbdd3	UTSW	11	5,054,303 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CACATGGCCTTTATCCCACG -3'
(R):5'- TTCCATGTCAGCTGTCCAGG -3'

Sequencing Primer
(F):5'- ATGGCCTTTATCCCACGTCATC -3'
(R):5'- CGTGGTGGGAGCTGAGCAG -3'

Posted On

2015-06-20