Mutagenetix > Incidental Mutation

Incidental Mutation 'R0481:Rhbdl3'

43384

Institutional Source

Beutler Lab

Gene Symbol

Rhbdl3

Ensembl Gene

ENSMUSG00000017692

Gene Name

rhomboid like 3

Synonyms

Rhbdl4, Ventrhoid, Vrho

MMRRC Submission

038681-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R0481 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

80191738-80246781 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 80214175 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138846

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

95% (89/94)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,190,666 (GRCm39)	N39Y	probably benign	Het
Adamts10	C	T	17: 33,768,347 (GRCm39)	Q840*	probably null	Het
Aff2	C	T	X: 68,878,248 (GRCm39)	T678I	probably damaging	Het
Ahctf1	A	G	1: 179,587,836 (GRCm39)	V1418A	probably benign	Het
Ankrd11	G	A	8: 123,626,775 (GRCm39)	R136C	probably damaging	Het
Arf5	A	G	6: 28,426,075 (GRCm39)	Y154C	probably damaging	Het
AW551984	A	G	9: 39,511,912 (GRCm39)	V33A	probably null	Het
B4galt5	A	G	2: 167,151,154 (GRCm39)	L118P	probably damaging	Het
Bcl9l	A	G	9: 44,417,979 (GRCm39)	I606V	probably benign	Het
Bdp1	A	G	13: 100,177,962 (GRCm39)	I1969T	probably benign	Het
Bicd1	A	T	6: 149,413,389 (GRCm39)	D260V	possibly damaging	Het
Cap1	A	T	4: 122,756,868 (GRCm39)	H272Q	possibly damaging	Het
Ccnk	A	G	12: 108,165,568 (GRCm39)		probably benign	Het
Cd209f	A	T	8: 4,155,558 (GRCm39)		probably null	Het
Cdk13	C	A	13: 17,894,079 (GRCm39)	A1123S	probably damaging	Het
Cdx1	C	T	18: 61,153,564 (GRCm39)	R158H	probably damaging	Het
Chd8	A	G	14: 52,474,663 (GRCm39)	S123P	probably benign	Het
Cwc22	G	A	2: 77,738,455 (GRCm39)	A497V	probably damaging	Het
Cwh43	T	C	5: 73,575,370 (GRCm39)	S296P	probably damaging	Het
Dhx38	A	T	8: 110,282,848 (GRCm39)		probably benign	Het
Dnah5	T	A	15: 28,383,745 (GRCm39)	M2989K	probably benign	Het
Dpy19l4	A	C	4: 11,272,993 (GRCm39)		probably benign	Het
F11r	A	T	1: 171,288,847 (GRCm39)	H155L	probably benign	Het
Fcgbpl1	A	T	7: 27,853,174 (GRCm39)	D1487V	probably damaging	Het
Fitm2	A	G	2: 163,311,634 (GRCm39)	V193A	probably benign	Het
Foxk1	T	A	5: 142,434,578 (GRCm39)	S281T	probably benign	Het
Furin	A	G	7: 80,043,297 (GRCm39)	C305R	probably damaging	Het
Fut8	T	A	12: 77,495,334 (GRCm39)	V308D	probably damaging	Het
Gjb3	T	A	4: 127,220,125 (GRCm39)	I136F	probably benign	Het
Glmn	A	T	5: 107,708,800 (GRCm39)	S385T	probably benign	Het
Glp1r	T	A	17: 31,150,191 (GRCm39)	M371K	probably benign	Het
Gpr179	T	C	11: 97,240,544 (GRCm39)	H293R	probably damaging	Het
H2-M11	A	T	17: 36,859,846 (GRCm39)	R280*	probably null	Het
Hadhb	T	A	5: 30,373,543 (GRCm39)	H78Q	probably damaging	Het
Hectd4	A	G	5: 121,433,569 (GRCm39)		probably benign	Het
Hexa	A	G	9: 59,462,693 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Hyal6	G	A	6: 24,743,417 (GRCm39)	C371Y	probably damaging	Het
Il1rap	T	C	16: 26,511,585 (GRCm39)	Y210H	probably damaging	Het
Ino80	A	T	2: 119,261,497 (GRCm39)	H722Q	probably damaging	Het
Kcnt1	A	G	2: 25,782,508 (GRCm39)	N200S	probably damaging	Het
Kif27	T	A	13: 58,459,078 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,852,537 (GRCm39)	V2179A	probably benign	Het
Macf1	C	A	4: 123,377,815 (GRCm39)		probably null	Het
Mamdc4	A	G	2: 25,461,228 (GRCm39)	M1T	probably null	Het
Mansc4	A	G	6: 146,976,725 (GRCm39)	I297T	possibly damaging	Het
Mdn1	G	A	4: 32,767,182 (GRCm39)		probably benign	Het
Mib2	A	G	4: 155,740,519 (GRCm39)		probably benign	Het
Mon2	A	G	10: 122,849,301 (GRCm39)	V1333A	possibly damaging	Het
Ndst2	T	C	14: 20,774,536 (GRCm39)	D840G	possibly damaging	Het
Nell2	A	T	15: 95,330,563 (GRCm39)		probably null	Het
Or4c102	A	T	2: 88,422,999 (GRCm39)	I284F	probably damaging	Het
Or4k51	T	A	2: 111,584,930 (GRCm39)	M112K	probably damaging	Het
Or5g29	C	A	2: 85,421,448 (GRCm39)	A188E	possibly damaging	Het
Pde5a	C	T	3: 122,611,726 (GRCm39)		probably benign	Het
Phip	A	G	9: 82,758,769 (GRCm39)		probably benign	Het
Polr2b	A	G	5: 77,479,929 (GRCm39)	I561V	possibly damaging	Het
Ppp4r3c2	T	C	X: 88,796,299 (GRCm39)	S44P	probably damaging	Het
Prkg2	A	T	5: 99,142,514 (GRCm39)		probably null	Het
Prl8a6	T	C	13: 27,617,084 (GRCm39)	D201G	probably benign	Het
Ptk6	G	A	2: 180,844,320 (GRCm39)		probably benign	Het
Ptprn2	T	C	12: 117,175,466 (GRCm39)		probably benign	Het
Rdh1	G	T	10: 127,598,993 (GRCm39)	R158L	probably damaging	Het
Rims4	A	T	2: 163,706,040 (GRCm39)	V198E	probably damaging	Het
Ripk1	T	C	13: 34,193,733 (GRCm39)	S32P	probably damaging	Het
Rnf13	T	A	3: 57,686,872 (GRCm39)	N88K	probably damaging	Het
Rnf13	C	A	3: 57,714,474 (GRCm39)	L178I	probably damaging	Het
Slc17a5	G	T	9: 78,445,584 (GRCm39)		probably null	Het
Sorcs1	A	G	19: 50,624,891 (GRCm39)		probably benign	Het
Spata31e3	T	A	13: 50,401,000 (GRCm39)	Q442L	probably benign	Het
Srpk1	G	A	17: 28,809,218 (GRCm39)		probably benign	Het
Stk10	A	G	11: 32,564,708 (GRCm39)	K840E	probably damaging	Het
Suco	A	G	1: 161,689,882 (GRCm39)		probably benign	Het
T2	G	A	17: 8,636,007 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,226,079 (GRCm39)	S255P	probably damaging	Het
Tenm1	T	C	X: 41,625,058 (GRCm39)	Y2254C	probably damaging	Het
Tex9	T	A	9: 72,385,678 (GRCm39)	K11*	probably null	Het
Tlr4	A	G	4: 66,746,153 (GRCm39)	I29V	probably benign	Het
Tmem255a	A	T	X: 37,288,523 (GRCm39)	V278D	probably damaging	Het
Trpc3	T	C	3: 36,678,566 (GRCm39)	I840V	probably benign	Het
Trpm3	G	A	19: 22,878,435 (GRCm39)	R622Q	possibly damaging	Het
Vmn1r214	T	A	13: 23,219,464 (GRCm39)	Y319*	probably null	Het
Vmn1r53	A	T	6: 90,200,700 (GRCm39)	V208E	probably damaging	Het
Vmn2r89	T	C	14: 51,693,577 (GRCm39)	F309S	probably damaging	Het
Xirp2	T	A	2: 67,340,253 (GRCm39)	F831L	possibly damaging	Het
Yes1	G	T	5: 32,797,749 (GRCm39)	E23*	probably null	Het
Zfp292	A	T	4: 34,810,059 (GRCm39)	M995K	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGACTCTCTGAACCTCGGTTTCC -3'
(R):5'- AGTACCACTTGCGGTCAATCTCCC -3'

Sequencing Primer
(F):5'- CGGAGTCCTCATCTAATGGAGAC -3'
(R):5'- CGGGGCAGAGTCTCGTAG -3'

Posted On

2013-05-23