Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03113:Rhbdl3'

419292

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 #

IGL03113

Quality Score

Status

Chromosome

Chromosomal Location

80191738-80246781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80244439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 382 (V382A)

Ref Sequence

ENSEMBL: ENSMUSP00000017836 (fasta)

Gene Model

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

AlphaFold

P58873

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017836
AA Change: V382A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000017836
Gene: ENSMUSG00000017692
AA Change: V382A

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: ENSMUST00000157016

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
Apof	G	A	10: 128,105,568 (GRCm39)	V241M	probably benign	Het
Arhgef10	T	A	8: 15,004,505 (GRCm39)	I91N	probably damaging	Het
Arhgef17	G	A	7: 100,578,938 (GRCm39)	T670I	probably benign	Het
Barhl1	T	C	2: 28,805,468 (GRCm39)	D75G	probably benign	Het
Capn13	T	C	17: 73,638,108 (GRCm39)	T432A	probably benign	Het
Casd1	T	A	6: 4,640,951 (GRCm39)	Y691N	probably damaging	Het
Ccdc175	C	A	12: 72,191,557 (GRCm39)	V340L	probably benign	Het
Cdc5l	A	T	17: 45,744,348 (GRCm39)	M5K	possibly damaging	Het
Cgn	A	G	3: 94,686,544 (GRCm39)	F253L	probably benign	Het
Csmd1	T	C	8: 16,078,712 (GRCm39)	K2003R	probably benign	Het
Disp2	T	A	2: 118,621,259 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,472,163 (GRCm39)	N3535D	possibly damaging	Het
Exoc3	G	A	13: 74,341,232 (GRCm39)	Q191*	probably null	Het
Fstl5	T	A	3: 76,337,099 (GRCm39)	Y219*	probably null	Het
Gad2	T	A	2: 22,571,367 (GRCm39)	L435Q	probably benign	Het
Gcnt3	A	G	9: 69,941,983 (GRCm39)	V195A	probably damaging	Het
Haus6	G	A	4: 86,501,343 (GRCm39)	Q843*	probably null	Het
Hivep2	T	A	10: 14,006,395 (GRCm39)	F998I	probably damaging	Het
Hsf5	A	T	11: 87,548,190 (GRCm39)	E624D	probably benign	Het
Klb	A	G	5: 65,540,813 (GRCm39)	N969D	probably benign	Het
Klhl6	T	A	16: 19,776,001 (GRCm39)	S186C	possibly damaging	Het
Klk15	T	C	7: 43,587,805 (GRCm39)	F78L	probably benign	Het
Ldlr	A	G	9: 21,651,124 (GRCm39)	E514G	possibly damaging	Het
Map9	T	A	3: 82,267,285 (GRCm39)		probably benign	Het
Miga2	A	T	2: 30,274,022 (GRCm39)	I99F	possibly damaging	Het
Morc4	T	C	X: 138,758,605 (GRCm39)	E189G	probably benign	Het
Nhlrc3	A	T	3: 53,365,984 (GRCm39)	Y170N	possibly damaging	Het
Or3a1b	G	A	11: 74,012,529 (GRCm39)	R138Q	probably benign	Het
Or4c111	A	G	2: 88,844,379 (GRCm39)	F10L	probably damaging	Het
Or51b6b	A	T	7: 103,309,851 (GRCm39)	V202D	possibly damaging	Het
Or52u1	A	T	7: 104,237,940 (GRCm39)	R310W	probably benign	Het
Or5o1	T	A	X: 48,815,939 (GRCm39)	N291Y	probably damaging	Het
Or5w15	T	C	2: 87,568,506 (GRCm39)	Q54R	probably benign	Het
Or8g32	A	C	9: 39,305,981 (GRCm39)	K295T	probably damaging	Het
Pkd1l1	G	A	11: 8,784,793 (GRCm39)	T1997I	probably benign	Het
Poln	A	G	5: 34,274,206 (GRCm39)	S377P	probably benign	Het
Rab22a	T	A	2: 173,503,265 (GRCm39)	V26E	probably damaging	Het
Slitrk3	G	T	3: 72,957,723 (GRCm39)	Q350K	probably benign	Het
Sult1d1	A	T	5: 87,707,738 (GRCm39)	Y127*	probably null	Het
Vmn1r73	A	T	7: 11,490,527 (GRCm39)	Y115F	probably benign	Het
Zfp128	T	A	7: 12,624,314 (GRCm39)	D227E	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
IGL02972:Rhbdl3	APN	11	80,222,742 (GRCm39)	splice site	probably benign
IGL03028:Rhbdl3	APN	11	80,214,287 (GRCm39)	nonsense	probably null
IGL03033:Rhbdl3	APN	11	80,237,653 (GRCm39)	missense	probably damaging	0.99
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

2016-08-02