Mutagenetix > Incidental Mutations

Incidental Mutation 'R1952:Rhbdf1'

217399

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf1

Ensembl Gene

ENSMUSG00000020282

Gene Name

rhomboid 5 homolog 1

Synonyms

Dist, Dist1, Egfr-rs

MMRRC Submission

039966-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R1952 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32209585-32222300 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 32214277 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 234 (R234*)

Ref Sequence

ENSEMBL: ENSMUSP00000020524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020524] [ENSMUST00000132578] [ENSMUST00000143988] [ENSMUST00000144902] [ENSMUST00000146179] [ENSMUST00000150381]

Predicted Effect

probably null
Transcript: ENSMUST00000020524
AA Change: R234*

SMART Domains

Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: R234*

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
Pfam:Rhomboid_SP	91	308	1.6e-116	PFAM
Pfam:Rhomboid	648	792	2.1e-32	PFAM
transmembrane domain	805	827	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132578

SMART Domains

Protein: ENSMUSP00000120543
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
Pfam:Rhomboid_SP	91	158	7.9e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143036

Predicted Effect

probably benign
Transcript: ENSMUST00000143988

SMART Domains

Protein: ENSMUSP00000117471
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
Pfam:Rhomboid	52	167	1.6e-24	PFAM
transmembrane domain	181	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144902

SMART Domains

Protein: ENSMUSP00000122533
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146179

SMART Domains

Protein: ENSMUSP00000118985
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
Pfam:Rhomboid_SP	91	155	7.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150381

SMART Domains

Protein: ENSMUSP00000118769
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a null allele show pleiotropic phenotypes and postnatal lethality largely dependent on the genetic background. Observed defects range from small size, reduced fat mass, and brain haemorrhages to small lymph organs, thrombosis, abnormal pancreatic acini, and behavioral deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	G	14: 32,388,336	V6A	possibly damaging	Het
Accsl	G	T	2: 93,859,433	H376Q	probably damaging	Het
Adgrg1	T	C	8: 95,008,491		probably null	Het
Alyref	C	G	11: 120,595,932	V168L	probably damaging	Het
Ankrd12	T	C	17: 66,031,571	D128G	probably damaging	Het
Bcl2l14	A	G	6: 134,432,366	Y301C	probably damaging	Het
Camsap3	A	G	8: 3,604,789	T804A	probably damaging	Het
Capn11	A	T	17: 45,642,959	W154R	probably damaging	Het
Cd44	T	A	2: 102,853,087	T201S	probably damaging	Het
Cers4	G	A	8: 4,523,461	W319*	probably null	Het
Col27a1	T	A	4: 63,283,893		probably null	Het
Crnkl1	G	A	2: 145,928,200	A241V	probably damaging	Het
Cyp2c68	T	C	19: 39,712,528	Y282C	probably benign	Het
Dmd	T	A	X: 83,830,517	I1342N	probably damaging	Het
Dusp7	T	A	9: 106,370,829	C219S	probably benign	Het
Epha7	A	G	4: 28,950,474	N759S	probably damaging	Het
Fat1	T	C	8: 45,033,926	V3413A	probably benign	Het
Gls2	A	G	10: 128,209,362	H576R	probably benign	Het
Gm4884	G	A	7: 41,044,247	V547M	probably benign	Het
Grasp	T	C	15: 101,224,500	Y67H	probably benign	Het
Hap1	A	G	11: 100,352,279	V174A	probably damaging	Het
Il12rb2	A	G	6: 67,292,316	S838P	probably damaging	Het
Ints8	T	C	4: 11,221,150	I742V	probably benign	Het
Katnal2	G	T	18: 76,980,011	S411R	probably benign	Het
Lrp1	A	C	10: 127,567,431	V2091G	probably damaging	Het
Mettl21c	A	T	1: 44,017,208	D20E	probably damaging	Het
Mib1	A	T	18: 10,812,077	E991D	possibly damaging	Het
Mip	T	C	10: 128,225,903	S8P	possibly damaging	Het
Mllt6	T	C	11: 97,677,222	S826P	probably damaging	Het
Mlst8	AT	ATT	17: 24,478,013		probably null	Het
Myrfl	C	T	10: 116,822,811	V414I	probably benign	Het
Nbeal1	T	C	1: 60,234,840	V409A	probably damaging	Het
Nin	T	A	12: 70,030,926	Q1035L	probably damaging	Het
Nlgn1	T	A	3: 25,436,300	D421V	probably damaging	Het
Nlrp10	A	G	7: 108,924,563	V570A	probably benign	Het
Olfm3	A	T	3: 115,101,940	E157V	probably null	Het
Olfr938	T	A	9: 39,078,284	I154F	probably benign	Het
Olfr970	T	C	9: 39,820,067	S143P	probably benign	Het
Otud7a	A	G	7: 63,650,876	D21G	probably damaging	Het
Pax2	A	G	19: 44,788,832	T155A	probably benign	Het
Pcf11	A	T	7: 92,661,338	S481T	probably damaging	Het
Prkab2	T	C	3: 97,666,627	V194A	probably benign	Het
Prl3a1	G	A	13: 27,270,153	G38E	possibly damaging	Het
Psmb8	T	C	17: 34,200,910	V246A	probably damaging	Het
Ptpn12	A	T	5: 20,998,310	V490E	probably benign	Het
Ptprm	A	T	17: 66,940,580	S587T	probably benign	Het
Qars	G	A	9: 108,513,181	R427H	probably benign	Het
R3hdml	T	C	2: 163,498,296	F128L	probably benign	Het
Rapgef4	A	G	2: 72,208,127	M541V	probably benign	Het
Rufy1	A	T	11: 50,406,406	D406E	probably benign	Het
Satb1	A	T	17: 51,740,145	L683Q	probably damaging	Het
Satb2	T	C	1: 56,899,070	T132A	probably damaging	Het
Sbspon	A	G	1: 15,860,295	S156P	probably damaging	Het
Shb	A	T	4: 45,458,347		probably null	Het
She	A	G	3: 89,849,485	K282R	possibly damaging	Het
Slc25a13	A	G	6: 6,152,482	L85P	probably damaging	Het
Slc7a13	A	T	4: 19,841,578	H475L	probably benign	Het
Sorl1	C	T	9: 42,046,624	V575I	probably benign	Het
Spag9	T	A	11: 94,097,358	C833S	possibly damaging	Het
Speer2	A	C	16: 69,857,164	N232K	probably damaging	Het
Syncrip	A	T	9: 88,476,874	M194K	probably damaging	Het
Sytl3	A	C	17: 6,728,333	T171P	probably damaging	Het
Taar7f	T	A	10: 24,049,849	Y114N	probably damaging	Het
Tap1	C	G	17: 34,193,507	P506R	probably damaging	Het
Tle6	T	C	10: 81,595,485	D212G	possibly damaging	Het
Trim80	G	T	11: 115,441,329	E116*	probably null	Het
Ttll4	A	G	1: 74,687,559	R745G	probably damaging	Het
Vdac2	A	T	14: 21,837,879	I85F	possibly damaging	Het
Vmn1r188	A	G	13: 22,088,139	R88G	probably damaging	Het
Washc2	T	C	6: 116,255,091	S821P	possibly damaging	Het
Wdhd1	T	C	14: 47,270,190	Y213C	probably damaging	Het
Wdr55	C	A	18: 36,760,384	P33Q	probably damaging	Het
Yrdc	C	T	4: 124,851,946	A32V	probably benign	Het
Zfp608	T	A	18: 54,897,779	K1030*	probably null	Het
Zfp618	T	A	4: 63,132,318		probably null	Het

Other mutations in Rhbdf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01863:Rhbdf1	APN	11	32213484	missense	probably benign
IGL02183:Rhbdf1	APN	11	32210543	missense	probably damaging	1.00
IGL02793:Rhbdf1	APN	11	32213293	missense	possibly damaging	0.92
IGL02875:Rhbdf1	APN	11	32213293	missense	possibly damaging	0.92
FR4589:Rhbdf1	UTSW	11	32214391	unclassified	probably benign
R0071:Rhbdf1	UTSW	11	32210498	missense	probably damaging	1.00
R0180:Rhbdf1	UTSW	11	32210042	missense	possibly damaging	0.76
R0512:Rhbdf1	UTSW	11	32210875	nonsense	probably null
R0843:Rhbdf1	UTSW	11	32215053	missense	probably damaging	1.00
R0880:Rhbdf1	UTSW	11	32213432	unclassified	probably null
R2017:Rhbdf1	UTSW	11	32210471	missense	probably damaging	1.00
R2076:Rhbdf1	UTSW	11	32214088	missense	probably benign	0.01
R3032:Rhbdf1	UTSW	11	32209985	missense	probably damaging	1.00
R4355:Rhbdf1	UTSW	11	32216236	missense	probably damaging	1.00
R4429:Rhbdf1	UTSW	11	32213369	missense	probably benign	0.00
R4865:Rhbdf1	UTSW	11	32214517	missense	probably damaging	1.00
R5585:Rhbdf1	UTSW	11	32210222	unclassified	probably null
R5728:Rhbdf1	UTSW	11	32209901	unclassified	probably null
R5925:Rhbdf1	UTSW	11	32212906	missense	probably benign	0.24
R5940:Rhbdf1	UTSW	11	32209847	missense	probably benign	0.00
R6083:Rhbdf1	UTSW	11	32210066	missense	probably damaging	1.00
R6088:Rhbdf1	UTSW	11	32212007	missense	possibly damaging	0.62
R6361:Rhbdf1	UTSW	11	32212915	missense	possibly damaging	0.92
R6692:Rhbdf1	UTSW	11	32215652	missense	probably damaging	0.98
R6727:Rhbdf1	UTSW	11	32214042	missense	possibly damaging	0.78
R6825:Rhbdf1	UTSW	11	32209970	missense	probably damaging	1.00
R7589:Rhbdf1	UTSW	11	32212903	missense	probably benign	0.01
V3553:Rhbdf1	UTSW	11	32211583	missense	probably damaging	1.00
Z1176:Rhbdf1	UTSW	11	32215125	critical splice acceptor site	unknown

Predicted Primers

PCR Primer
(F):5'- TCTGATGGGGACTCAAACACCTC -3'
(R):5'- TCGCAAACGTGAATCGGTGG -3'

Sequencing Primer
(F):5'- AAACACCTCATCTGGGTACGTGG -3'
(R):5'- ATCGGTGGCCAAGATGAGCTTC -3'

Posted On

2014-08-01