Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02972:Rhbdl3'

365878

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rhbdl3

Ensembl Gene

ENSMUSG00000017692

Gene Name

rhomboid like 3

Synonyms

Rhbdl4, Ventrhoid, Vrho

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL02972

Quality Score

Status

Chromosome

Chromosomal Location

80191738-80246781 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 80222742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000017836 (fasta)

Gene Model

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

AlphaFold

P58873

Predicted Effect

probably benign
Transcript: ENSMUST00000017836

SMART Domains

Protein: ENSMUSP00000017836
Gene: ENSMUSG00000017692

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	A	17: 37,289,412 (GRCm39)	I105F	possibly damaging	Het
Bmpr1b	C	T	3: 141,576,519 (GRCm39)	D105N	probably benign	Het
Ces2e	A	T	8: 105,653,693 (GRCm39)	S44C	probably damaging	Het
Chd7	T	A	4: 8,855,174 (GRCm39)	N2134K	probably benign	Het
Chst15	T	C	7: 131,870,902 (GRCm39)	D211G	probably damaging	Het
Dpp4	T	C	2: 62,182,569 (GRCm39)	S571G	probably damaging	Het
Gna11	T	C	10: 81,369,225 (GRCm39)	I113V	probably benign	Het
Grm3	T	C	5: 9,562,410 (GRCm39)	Y480C	probably damaging	Het
Mccc1	C	T	3: 36,039,238 (GRCm39)	V252I	possibly damaging	Het
Nol12	A	G	15: 78,824,799 (GRCm39)	T209A	probably damaging	Het
Or2y14	G	A	11: 49,404,918 (GRCm39)	G151D	probably damaging	Het
Or52a33	A	G	7: 103,289,101 (GRCm39)	M82T	probably damaging	Het
Or7e168	T	C	9: 19,720,238 (GRCm39)	F208S	probably damaging	Het
P3h1	C	A	4: 119,105,157 (GRCm39)	Q712K	possibly damaging	Het
Per2	T	A	1: 91,351,703 (GRCm39)	E934D	possibly damaging	Het
Pfkl	T	C	10: 77,824,108 (GRCm39)	D760G	probably benign	Het
Piezo2	C	A	18: 63,197,856 (GRCm39)		probably benign	Het
Pkd1l1	C	T	11: 8,813,908 (GRCm39)	R1481Q	probably damaging	Het
Plpp3	T	C	4: 105,065,989 (GRCm39)	V189A	possibly damaging	Het
Pnpla1	A	G	17: 29,105,921 (GRCm39)	E592G	probably null	Het
Prdm2	A	T	4: 142,858,736 (GRCm39)	M1518K	probably benign	Het
Rnf145	C	T	11: 44,454,865 (GRCm39)	S582F	probably benign	Het
Rsf1	A	G	7: 97,310,533 (GRCm39)	D421G	probably benign	Het
Serac1	A	C	17: 6,121,039 (GRCm39)	L85*	probably null	Het
Slc43a1	T	G	2: 84,690,462 (GRCm39)	V460G	probably damaging	Het
Slc7a6	G	A	8: 106,906,059 (GRCm39)	C97Y	probably damaging	Het
Slco5a1	A	T	1: 13,060,379 (GRCm39)	L114*	probably null	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Taok1	A	G	11: 77,450,584 (GRCm39)	V396A	probably benign	Het
Tmem232	T	A	17: 65,783,668 (GRCm39)	H233L	probably benign	Het
Tmprss11c	C	T	5: 86,385,692 (GRCm39)	S247N	possibly damaging	Het
Tnc	C	T	4: 63,894,715 (GRCm39)	S1557N	probably benign	Het
Txlng	A	G	X: 161,590,551 (GRCm39)	M94T	probably damaging	Het
Ube2b	A	T	11: 51,879,509 (GRCm39)	I87K	probably damaging	Het
Ubr5	A	T	15: 38,042,196 (GRCm39)	S133R	probably damaging	Het
Ugt1a5	C	T	1: 88,094,144 (GRCm39)	T124I	probably benign	Het
Vamp1	G	T	6: 125,196,610 (GRCm39)	R117L	probably benign	Het
Vmn1r87	G	T	7: 12,866,256 (GRCm39)	Y10*	probably null	Het
Zan	G	A	5: 137,461,948 (GRCm39)	T1077I	unknown	Het
Zc2hc1b	C	A	10: 13,047,025 (GRCm39)	V29F	probably damaging	Het
Zfp597	T	C	16: 3,684,387 (GRCm39)	D123G	probably benign	Het

Other mutations in Rhbdl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Rhbdl3	APN	11	80,244,268 (GRCm39)	missense	probably damaging	1.00
IGL02003:Rhbdl3	APN	11	80,228,342 (GRCm39)	missense	possibly damaging	0.82
IGL02302:Rhbdl3	APN	11	80,244,507 (GRCm39)	makesense	probably null
IGL03028:Rhbdl3	APN	11	80,214,287 (GRCm39)	nonsense	probably null
IGL03033:Rhbdl3	APN	11	80,237,653 (GRCm39)	missense	probably damaging	0.99
IGL03113:Rhbdl3	APN	11	80,244,439 (GRCm39)	missense	possibly damaging	0.69
R0193:Rhbdl3	UTSW	11	80,244,400 (GRCm39)	missense	possibly damaging	0.55
R0358:Rhbdl3	UTSW	11	80,244,457 (GRCm39)	missense	probably damaging	0.99
R0481:Rhbdl3	UTSW	11	80,214,175 (GRCm39)	splice site	probably benign
R0616:Rhbdl3	UTSW	11	80,222,687 (GRCm39)	missense	probably damaging	0.99
R1171:Rhbdl3	UTSW	11	80,244,418 (GRCm39)	missense	possibly damaging	0.52
R2166:Rhbdl3	UTSW	11	80,210,523 (GRCm39)	missense	probably damaging	1.00
R3500:Rhbdl3	UTSW	11	80,210,531 (GRCm39)	missense	probably damaging	0.98
R4580:Rhbdl3	UTSW	11	80,244,471 (GRCm39)	missense	probably damaging	1.00
R4900:Rhbdl3	UTSW	11	80,210,439 (GRCm39)	missense	probably benign	0.13
R5276:Rhbdl3	UTSW	11	80,210,492 (GRCm39)	missense	probably benign	0.07
R5513:Rhbdl3	UTSW	11	80,222,668 (GRCm39)	missense	probably damaging	0.99
R5595:Rhbdl3	UTSW	11	80,228,409 (GRCm39)	missense	probably damaging	0.99
R5941:Rhbdl3	UTSW	11	80,222,715 (GRCm39)	missense	probably benign	0.18
R6372:Rhbdl3	UTSW	11	80,221,482 (GRCm39)	missense	probably damaging	1.00
R6935:Rhbdl3	UTSW	11	80,228,322 (GRCm39)	missense	probably damaging	1.00
R7252:Rhbdl3	UTSW	11	80,228,411 (GRCm39)	missense	possibly damaging	0.60
R7389:Rhbdl3	UTSW	11	80,237,665 (GRCm39)	missense	possibly damaging	0.95
R7404:Rhbdl3	UTSW	11	80,237,659 (GRCm39)	missense	probably damaging	1.00
R7745:Rhbdl3	UTSW	11	80,214,405 (GRCm39)	missense	possibly damaging	0.74
R7768:Rhbdl3	UTSW	11	80,221,447 (GRCm39)	missense	probably benign
R8669:Rhbdl3	UTSW	11	80,244,339 (GRCm39)	missense	probably damaging	1.00
R9557:Rhbdl3	UTSW	11	80,244,277 (GRCm39)	missense	probably benign	0.37
R9779:Rhbdl3	UTSW	11	80,214,317 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18