Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03028:Rhbdl3'

408282

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rhbdl3

Ensembl Gene

ENSMUSG00000017692

Gene Name

rhomboid like 3

Synonyms

Vrho, Ventrhoid, Rhbdl4

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

IGL03028

Quality Score

Status

Chromosome

Chromosomal Location

80300912-80355955 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 80323461 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 133 (Q133*)

Ref Sequence

ENSEMBL: ENSMUSP00000017836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017836]

Predicted Effect

probably null
Transcript: ENSMUST00000017836
AA Change: Q133*

SMART Domains

Protein: ENSMUSP00000017836
Gene: ENSMUSG00000017692
AA Change: Q133*

Domain	Start	End	E-Value	Type
SCOP:d1c7va_	36	104	2e-12	SMART
Blast:EFh	38	66	6e-11	BLAST
PDB:2RRT\|A	43	102	6e-6	PDB
Blast:EFh	74	102	9e-10	BLAST
transmembrane domain	162	184	N/A	INTRINSIC
Pfam:Rhomboid	205	362	1.6e-34	PFAM
transmembrane domain	370	392	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138846

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	C	9: 53,594,762	V86G	probably benign	Het
Adgra3	A	T	5: 50,016,852	W115R	probably benign	Het
Ahr	G	A	12: 35,504,710	A470V	probably benign	Het
AI481877	A	C	4: 59,094,274	I150S	possibly damaging	Het
Aoah	A	T	13: 20,816,582	Q62L	possibly damaging	Het
Arhgef12	A	T	9: 43,026,228	D100E	possibly damaging	Het
Asic1	A	G	15: 99,672,157	N120D	probably benign	Het
Atp2b2	A	G	6: 113,759,142	L988P	probably damaging	Het
Atxn2	T	A	5: 121,810,909	H789Q	probably damaging	Het
Clk1	G	T	1: 58,421,102	S123*	probably null	Het
Col10a1	C	T	10: 34,395,016	A328V	probably benign	Het
Col26a1	G	T	5: 136,743,118	D415E	possibly damaging	Het
Ctla2a	A	G	13: 60,935,459		probably benign	Het
Cwf19l2	A	G	9: 3,430,622	E318G	probably benign	Het
Dnajc16	C	T	4: 141,767,732	W523*	probably null	Het
Ehhadh	T	C	16: 21,762,394	E616G	probably damaging	Het
F5	A	T	1: 164,193,000	K1015*	probably null	Het
Fam78a	A	G	2: 32,082,882	W9R	possibly damaging	Het
Frs2	A	T	10: 117,073,933	M508K	possibly damaging	Het
Gm3164	A	T	14: 4,440,111	M200L	probably benign	Het
Gm44511	T	C	6: 128,780,395	S179G	probably damaging	Het
Gpr25	G	A	1: 136,260,812	S21L	probably benign	Het
Hsdl2	A	G	4: 59,594,471	D34G	probably damaging	Het
Kcnt1	A	G	2: 25,909,203		probably null	Het
Kl	A	G	5: 150,991,550	Y914C	probably damaging	Het
Map3k3	T	G	11: 106,110,751	V45G	probably damaging	Het
Mppe1	A	C	18: 67,227,684	C261W	probably damaging	Het
Nin	T	C	12: 70,035,270	T1640A	probably benign	Het
Olfr368	C	T	2: 37,331,956	L70F	probably damaging	Het
Olfr483	T	A	7: 108,104,173	M288K	probably damaging	Het
Olfr570	T	A	7: 102,900,829	I154N	possibly damaging	Het
Olfr616	A	G	7: 103,564,589		probably null	Het
Olfr844	A	T	9: 19,319,368	Y284F	probably damaging	Het
Oxr1	A	G	15: 41,817,163	N166D	probably damaging	Het
Pank4	T	A	4: 154,969,985		probably benign	Het
Pgd	A	G	4: 149,161,627		probably null	Het
Pitrm1	C	T	13: 6,574,393	H831Y	probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Rad51	A	C	2: 119,116,314	M1L	possibly damaging	Het
Recql5	G	T	11: 115,894,431	S746R	possibly damaging	Het
Rpp40	A	T	13: 35,904,511	L59Q	probably damaging	Het
Rtca	C	A	3: 116,493,092		probably benign	Het
Rtkn	C	T	6: 83,147,872	Q108*	probably null	Het
Sirt6	C	T	10: 81,627,541		probably benign	Het
Slc9a4	G	A	1: 40,610,377	V517M	probably benign	Het
Smarca2	G	T	19: 26,678,312		probably benign	Het
Snx33	A	T	9: 56,926,451	D111E	probably benign	Het
Tgfb1	T	C	7: 25,704,196	I311T	probably damaging	Het
Tgfb2	C	T	1: 186,630,609		probably null	Het
Tmem232	T	C	17: 65,256,389	T670A	probably benign	Het
Tnfsf4	T	C	1: 161,395,642	F21L	possibly damaging	Het
Ubr5	T	C	15: 38,047,593	T47A	probably benign	Het
Unc79	T	C	12: 103,173,526	V2515A	possibly damaging	Het
Utp6	T	C	11: 79,953,624	K192E	probably damaging	Het
Vmn2r102	T	C	17: 19,694,066	F631S	possibly damaging	Het
Zfp516	A	C	18: 82,955,913	I79L	possibly damaging	Het

Other mutations in Rhbdl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Rhbdl3	APN	11	80353442	missense	probably damaging	1.00
IGL02003:Rhbdl3	APN	11	80337516	missense	possibly damaging	0.82
IGL02302:Rhbdl3	APN	11	80353681	makesense	probably null
IGL02972:Rhbdl3	APN	11	80331916	splice site	probably benign
IGL03033:Rhbdl3	APN	11	80346827	missense	probably damaging	0.99
IGL03113:Rhbdl3	APN	11	80353613	missense	possibly damaging	0.69
R0193:Rhbdl3	UTSW	11	80353574	missense	possibly damaging	0.55
R0358:Rhbdl3	UTSW	11	80353631	missense	probably damaging	0.99
R0481:Rhbdl3	UTSW	11	80323349	splice site	probably benign
R0616:Rhbdl3	UTSW	11	80331861	missense	probably damaging	0.99
R1171:Rhbdl3	UTSW	11	80353592	missense	possibly damaging	0.52
R2166:Rhbdl3	UTSW	11	80319697	missense	probably damaging	1.00
R3500:Rhbdl3	UTSW	11	80319705	missense	probably damaging	0.98
R4580:Rhbdl3	UTSW	11	80353645	missense	probably damaging	1.00
R4900:Rhbdl3	UTSW	11	80319613	missense	probably benign	0.13
R5276:Rhbdl3	UTSW	11	80319666	missense	probably benign	0.07
R5513:Rhbdl3	UTSW	11	80331842	missense	probably damaging	0.99
R5595:Rhbdl3	UTSW	11	80337583	missense	probably damaging	0.99
R5941:Rhbdl3	UTSW	11	80331889	missense	probably benign	0.18
R6372:Rhbdl3	UTSW	11	80330656	missense	probably damaging	1.00
R6935:Rhbdl3	UTSW	11	80337496	missense	probably damaging	1.00
R7252:Rhbdl3	UTSW	11	80337585	missense	possibly damaging	0.60
R7389:Rhbdl3	UTSW	11	80346839	missense	possibly damaging	0.95
R7404:Rhbdl3	UTSW	11	80346833	missense	probably damaging	1.00
R7745:Rhbdl3	UTSW	11	80323579	missense	possibly damaging	0.74
R7768:Rhbdl3	UTSW	11	80330621	missense	probably benign
R8669:Rhbdl3	UTSW	11	80353513	missense	probably damaging	1.00

Posted On

2016-08-02