Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.167) 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 (GRCm38)

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]

AlphaFold

Q6PIX5

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 (GRCm38)	V6A	possibly damaging	Het
Accsl	G	T	2: 93,859,433 (GRCm38)	H376Q	probably damaging	Het
Adgrg1	T	C	8: 95,008,491 (GRCm38)		probably null	Het
Alyref	C	G	11: 120,595,932 (GRCm38)	V168L	probably damaging	Het
Ankrd12	T	C	17: 66,031,571 (GRCm38)	D128G	probably damaging	Het
Bcl2l14	A	G	6: 134,432,366 (GRCm38)	Y301C	probably damaging	Het
Camsap3	A	G	8: 3,604,789 (GRCm38)	T804A	probably damaging	Het
Capn11	A	T	17: 45,642,959 (GRCm38)	W154R	probably damaging	Het
Cd44	T	A	2: 102,853,087 (GRCm38)	T201S	probably damaging	Het
Cers4	G	A	8: 4,523,461 (GRCm38)	W319*	probably null	Het
Col27a1	T	A	4: 63,283,893 (GRCm38)		probably null	Het
Crnkl1	G	A	2: 145,928,200 (GRCm38)	A241V	probably damaging	Het
Cyp2c68	T	C	19: 39,712,528 (GRCm38)	Y282C	probably benign	Het
Dmd	T	A	X: 83,830,517 (GRCm38)	I1342N	probably damaging	Het
Dusp7	T	A	9: 106,370,829 (GRCm38)	C219S	probably benign	Het
Epha7	A	G	4: 28,950,474 (GRCm38)	N759S	probably damaging	Het
Fat1	T	C	8: 45,033,926 (GRCm38)	V3413A	probably benign	Het
Gls2	A	G	10: 128,209,362 (GRCm38)	H576R	probably benign	Het
Gm4884	G	A	7: 41,044,247 (GRCm38)	V547M	probably benign	Het
Hap1	A	G	11: 100,352,279 (GRCm38)	V174A	probably damaging	Het
Il12rb2	A	G	6: 67,292,316 (GRCm38)	S838P	probably damaging	Het
Ints8	T	C	4: 11,221,150 (GRCm38)	I742V	probably benign	Het
Katnal2	G	T	18: 76,980,011 (GRCm38)	S411R	probably benign	Het
Lrp1	A	C	10: 127,567,431 (GRCm38)	V2091G	probably damaging	Het
Mettl21c	A	T	1: 44,017,208 (GRCm38)	D20E	probably damaging	Het
Mib1	A	T	18: 10,812,077 (GRCm38)	E991D	possibly damaging	Het
Mip	T	C	10: 128,225,903 (GRCm38)	S8P	possibly damaging	Het
Mllt6	T	C	11: 97,677,222 (GRCm38)	S826P	probably damaging	Het
Mlst8	AT	ATT	17: 24,478,013 (GRCm38)		probably null	Het
Myrfl	C	T	10: 116,822,811 (GRCm38)	V414I	probably benign	Het
Nbeal1	T	C	1: 60,234,840 (GRCm38)	V409A	probably damaging	Het
Nin	T	A	12: 70,030,926 (GRCm38)	Q1035L	probably damaging	Het
Nlgn1	T	A	3: 25,436,300 (GRCm38)	D421V	probably damaging	Het
Nlrp10	A	G	7: 108,924,563 (GRCm38)	V570A	probably benign	Het
Olfm3	A	T	3: 115,101,940 (GRCm38)	E157V	probably null	Het
Or8g24	T	A	9: 39,078,284 (GRCm38)	I154F	probably benign	Het
Or8g37	T	C	9: 39,820,067 (GRCm38)	S143P	probably benign	Het
Otud7a	A	G	7: 63,650,876 (GRCm38)	D21G	probably damaging	Het
Pax2	A	G	19: 44,788,832 (GRCm38)	T155A	probably benign	Het
Pcf11	A	T	7: 92,661,338 (GRCm38)	S481T	probably damaging	Het
Prkab2	T	C	3: 97,666,627 (GRCm38)	V194A	probably benign	Het
Prl3a1	G	A	13: 27,270,153 (GRCm38)	G38E	possibly damaging	Het
Psmb8	T	C	17: 34,200,910 (GRCm38)	V246A	probably damaging	Het
Ptpn12	A	T	5: 20,998,310 (GRCm38)	V490E	probably benign	Het
Ptprm	A	T	17: 66,940,580 (GRCm38)	S587T	probably benign	Het
Qars1	G	A	9: 108,513,181 (GRCm38)	R427H	probably benign	Het
R3hdml	T	C	2: 163,498,296 (GRCm38)	F128L	probably benign	Het
Rapgef4	A	G	2: 72,208,127 (GRCm38)	M541V	probably benign	Het
Rufy1	A	T	11: 50,406,406 (GRCm38)	D406E	probably benign	Het
Satb1	A	T	17: 51,740,145 (GRCm38)	L683Q	probably damaging	Het
Satb2	T	C	1: 56,899,070 (GRCm38)	T132A	probably damaging	Het
Sbspon	A	G	1: 15,860,295 (GRCm38)	S156P	probably damaging	Het
Shb	A	T	4: 45,458,347 (GRCm38)		probably null	Het
She	A	G	3: 89,849,485 (GRCm38)	K282R	possibly damaging	Het
Slc25a13	A	G	6: 6,152,482 (GRCm38)	L85P	probably damaging	Het
Slc7a13	A	T	4: 19,841,578 (GRCm38)	H475L	probably benign	Het
Sorl1	C	T	9: 42,046,624 (GRCm38)	V575I	probably benign	Het
Spag9	T	A	11: 94,097,358 (GRCm38)	C833S	possibly damaging	Het
Speer2	A	C	16: 69,857,164 (GRCm38)	N232K	probably damaging	Het
Syncrip	A	T	9: 88,476,874 (GRCm38)	M194K	probably damaging	Het
Sytl3	A	C	17: 6,728,333 (GRCm38)	T171P	probably damaging	Het
Taar7f	T	A	10: 24,049,849 (GRCm38)	Y114N	probably damaging	Het
Tamalin	T	C	15: 101,224,500 (GRCm38)	Y67H	probably benign	Het
Tap1	C	G	17: 34,193,507 (GRCm38)	P506R	probably damaging	Het
Tle6	T	C	10: 81,595,485 (GRCm38)	D212G	possibly damaging	Het
Trim80	G	T	11: 115,441,329 (GRCm38)	E116*	probably null	Het
Ttll4	A	G	1: 74,687,559 (GRCm38)	R745G	probably damaging	Het
Vdac2	A	T	14: 21,837,879 (GRCm38)	I85F	possibly damaging	Het
Vmn1r188	A	G	13: 22,088,139 (GRCm38)	R88G	probably damaging	Het
Washc2	T	C	6: 116,255,091 (GRCm38)	S821P	possibly damaging	Het
Wdhd1	T	C	14: 47,270,190 (GRCm38)	Y213C	probably damaging	Het
Wdr55	C	A	18: 36,760,384 (GRCm38)	P33Q	probably damaging	Het
Yrdc	C	T	4: 124,851,946 (GRCm38)	A32V	probably benign	Het
Zfp608	T	A	18: 54,897,779 (GRCm38)	K1030*	probably null	Het
Zfp618	T	A	4: 63,132,318 (GRCm38)		probably null	Het

Other mutations in Rhbdf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01863:Rhbdf1	APN	11	32,213,484 (GRCm38)	missense	probably benign
IGL02183:Rhbdf1	APN	11	32,210,543 (GRCm38)	missense	probably damaging	1.00
IGL02793:Rhbdf1	APN	11	32,213,293 (GRCm38)	missense	possibly damaging	0.92
IGL02875:Rhbdf1	APN	11	32,213,293 (GRCm38)	missense	possibly damaging	0.92
BB005:Rhbdf1	UTSW	11	32,209,898 (GRCm38)	missense	possibly damaging	0.93
BB015:Rhbdf1	UTSW	11	32,209,898 (GRCm38)	missense	possibly damaging	0.93
FR4589:Rhbdf1	UTSW	11	32,214,391 (GRCm38)	unclassified	probably benign
R0071:Rhbdf1	UTSW	11	32,210,498 (GRCm38)	missense	probably damaging	1.00
R0180:Rhbdf1	UTSW	11	32,210,042 (GRCm38)	missense	possibly damaging	0.76
R0512:Rhbdf1	UTSW	11	32,210,875 (GRCm38)	nonsense	probably null
R0843:Rhbdf1	UTSW	11	32,215,053 (GRCm38)	missense	probably damaging	1.00
R0880:Rhbdf1	UTSW	11	32,213,432 (GRCm38)	splice site	probably null
R2017:Rhbdf1	UTSW	11	32,210,471 (GRCm38)	missense	probably damaging	1.00
R2076:Rhbdf1	UTSW	11	32,214,088 (GRCm38)	missense	probably benign	0.01
R3032:Rhbdf1	UTSW	11	32,209,985 (GRCm38)	missense	probably damaging	1.00
R4355:Rhbdf1	UTSW	11	32,216,236 (GRCm38)	missense	probably damaging	1.00
R4429:Rhbdf1	UTSW	11	32,213,369 (GRCm38)	missense	probably benign	0.00
R4865:Rhbdf1	UTSW	11	32,214,517 (GRCm38)	missense	probably damaging	1.00
R5585:Rhbdf1	UTSW	11	32,210,222 (GRCm38)	splice site	probably null
R5728:Rhbdf1	UTSW	11	32,209,901 (GRCm38)	splice site	probably null
R5925:Rhbdf1	UTSW	11	32,212,906 (GRCm38)	missense	probably benign	0.24
R5940:Rhbdf1	UTSW	11	32,209,847 (GRCm38)	missense	probably benign	0.00
R6083:Rhbdf1	UTSW	11	32,210,066 (GRCm38)	missense	probably damaging	1.00
R6088:Rhbdf1	UTSW	11	32,212,007 (GRCm38)	missense	possibly damaging	0.62
R6361:Rhbdf1	UTSW	11	32,212,915 (GRCm38)	missense	possibly damaging	0.92
R6692:Rhbdf1	UTSW	11	32,215,652 (GRCm38)	missense	probably damaging	0.98
R6727:Rhbdf1	UTSW	11	32,214,042 (GRCm38)	missense	possibly damaging	0.78
R6825:Rhbdf1	UTSW	11	32,209,970 (GRCm38)	missense	probably damaging	1.00
R7589:Rhbdf1	UTSW	11	32,212,903 (GRCm38)	missense	probably benign	0.01
R7928:Rhbdf1	UTSW	11	32,209,898 (GRCm38)	missense	possibly damaging	0.93
R7940:Rhbdf1	UTSW	11	32,216,258 (GRCm38)	start codon destroyed	possibly damaging	0.79
R7957:Rhbdf1	UTSW	11	32,210,523 (GRCm38)	missense	probably damaging	1.00
R8220:Rhbdf1	UTSW	11	32,214,563 (GRCm38)	missense	probably benign	0.30
R8490:Rhbdf1	UTSW	11	32,210,162 (GRCm38)	missense	probably damaging	0.98
R8939:Rhbdf1	UTSW	11	32,210,093 (GRCm38)	missense	probably benign	0.00
R9040:Rhbdf1	UTSW	11	32,213,063 (GRCm38)	missense	probably benign	0.23
R9257:Rhbdf1	UTSW	11	32,210,754 (GRCm38)	missense	probably benign	0.00
R9509:Rhbdf1	UTSW	11	32,215,055 (GRCm38)	missense	possibly damaging	0.96
R9575:Rhbdf1	UTSW	11	32,213,101 (GRCm38)	missense	probably benign	0.00
R9654:Rhbdf1	UTSW	11	32,216,028 (GRCm38)	missense	probably benign
V3553:Rhbdf1	UTSW	11	32,211,583 (GRCm38)	missense	probably damaging	1.00
Z1176:Rhbdf1	UTSW	11	32,215,125 (GRCm38)	critical splice acceptor site	probably null

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