Mutagenetix > Incidental Mutations

Incidental Mutation 'R6083:Rhbdf1'

482317

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf1

Ensembl Gene

ENSMUSG00000020282

Gene Name

rhomboid 5 homolog 1

Synonyms

Dist, Dist1, Egfr-rs

MMRRC Submission

044242-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R6083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32209585-32222300 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32210066 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 145 (N145S)

Ref Sequence

ENSEMBL: ENSMUSP00000117471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020524] [ENSMUST00000039601] [ENSMUST00000121182] [ENSMUST00000132578] [ENSMUST00000143988] [ENSMUST00000146179] [ENSMUST00000149043]

AlphaFold

Q6PIX5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020524
AA Change: N770S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: N770S

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: ENSMUST00000039601

SMART Domains

Protein: ENSMUSP00000046654
Gene: ENSMUSG00000040767

Domain	Start	End	E-Value	Type
PDB:1V2Y\|A	31	123	4e-63	PDB
Blast:UBQ	32	119	1e-30	BLAST
SCOP:d1euvb_	32	121	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121182

SMART Domains

Protein: ENSMUSP00000112483
Gene: ENSMUSG00000040767

Domain	Start	End	E-Value	Type
PDB:1V2Y\|A	31	83	4e-28	PDB
Blast:UBQ	32	83	2e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125837

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 damaging
Transcript: ENSMUST00000143988
AA Change: N145S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117471
Gene: ENSMUSG00000020282
AA Change: N145S

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: 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: ENSMUST00000149043

SMART Domains

Protein: ENSMUSP00000119306
Gene: ENSMUSG00000040767

Domain	Start	End	E-Value	Type
PDB:1V2Y\|A	31	96	1e-40	PDB
Blast:UBQ	32	96	3e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155736

Meta Mutation Damage Score

0.9533

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (76/79)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	A	11: 58,878,851	P73Q	possibly damaging	Het
Aak1	A	T	6: 86,963,996	I591F	unknown	Het
Ace	C	A	11: 105,985,267	Y816*	probably null	Het
Ahnak2	A	G	12: 112,782,612	V1205A	probably benign	Het
Ahnak2	T	G	12: 112,782,999	Q1076P	probably benign	Het
Ap2a1	G	A	7: 44,907,751	R263W	probably damaging	Het
Arhgap29	A	G	3: 121,992,748	T257A	probably benign	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Ccdc17	A	T	4: 116,596,926	Q47L	possibly damaging	Het
Cep170	C	T	1: 176,774,625	R305H	probably damaging	Het
Cyb5r4	C	T	9: 87,057,168	P335S	probably damaging	Het
Cyp2c54	A	G	19: 40,073,762	L17P	probably benign	Het
Cyp2c69	A	T	19: 39,849,456	V394E	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Defb36	A	T	2: 152,604,488	M1L	unknown	Het
Dnaja1	A	G	4: 40,731,713	D263G	probably benign	Het
Dock10	T	C	1: 80,532,431	N1560S	probably damaging	Het
Efnb2	T	C	8: 8,622,328		probably null	Het
Eif3e	A	G	15: 43,266,144	I196T	probably damaging	Het
Ercc4	T	A	16: 13,110,039	C24*	probably null	Het
Fmn1	A	G	2: 113,364,303	E116G	unknown	Het
Gnas	A	G	2: 174,297,862	M1V	probably null	Het
Grin2a	C	A	16: 9,579,540	M894I	probably benign	Het
Herc2	G	T	7: 56,228,505	S4566I	probably benign	Het
Hmcn1	G	A	1: 150,755,293	P918L	probably damaging	Het
Hmcn1	G	T	1: 150,755,294	P918T	probably damaging	Het
Hsd3b2	T	A	3: 98,712,056	Y191F	possibly damaging	Het
Ifit1bl2	A	C	19: 34,619,817	F133C	possibly damaging	Het
Itih2	T	C	2: 10,108,894		probably benign	Het
Itsn1	T	C	16: 91,853,011	L191P	probably benign	Het
Kdr	T	C	5: 75,944,366	K1068R	probably damaging	Het
Lmtk2	T	C	5: 144,182,756	L1345P	probably damaging	Het
Man2b2	T	A	5: 36,809,041	D936V	probably damaging	Het
Mapk1ip1	G	A	7: 138,836,588	R38*	probably null	Het
Med13l	T	C	5: 118,721,486	V246A	possibly damaging	Het
Mlec	T	A	5: 115,148,049	T248S	probably benign	Het
Mslnl	T	A	17: 25,737,902	V54D	possibly damaging	Het
Muc16	G	A	9: 18,657,212	T1337I	unknown	Het
Nek7	C	T	1: 138,515,654	S187N	probably damaging	Het
Neto2	A	G	8: 85,640,585	V538A	probably benign	Het
Nktr	T	C	9: 121,750,136		probably benign	Het
Npy6r	A	G	18: 44,276,492	K327E	probably damaging	Het
Olfr1230	T	A	2: 89,297,024	D82V	probably damaging	Het
Olfr1245	T	C	2: 89,575,672	D18G	probably benign	Het
Olfr1463	A	T	19: 13,234,525	I92F	probably benign	Het
Olfr402	A	G	11: 74,155,570	M139V	possibly damaging	Het
Olfr705	A	G	7: 106,873,582	I221T	probably damaging	Het
Pcdhga4	A	T	18: 37,687,425	N676Y	probably damaging	Het
Pde2a	T	C	7: 101,502,879	I331T	possibly damaging	Het
Pip5k1b	A	T	19: 24,304,035	Y486*	probably null	Het
Plch2	A	G	4: 155,000,818	M272T	probably benign	Het
Rbm12	G	A	2: 156,097,726		probably benign	Het
Rgs19	T	C	2: 181,689,507	E111G	probably damaging	Het
Rnf4	T	A	5: 34,351,221		probably null	Het
Rpa1	T	C	11: 75,314,911	T207A	probably damaging	Het
Rufy4	A	C	1: 74,129,397	Q113P	probably damaging	Het
Sh3pxd2b	T	G	11: 32,422,985	S717R	probably benign	Het
Sin3a	A	T	9: 57,107,540	I682F	probably damaging	Het
Sipa1l2	A	T	8: 125,468,473	V842E	possibly damaging	Het
Slc5a4a	A	G	10: 76,147,597	I23V	unknown	Het
Slitrk5	A	G	14: 111,681,725	N927S	probably benign	Het
Smc6	A	G	12: 11,276,353	K117R	possibly damaging	Het
Sod2	G	A	17: 13,008,031		probably benign	Het
Stxbp1	A	G	2: 32,796,018	I567T	possibly damaging	Het
Tbkbp1	C	A	11: 97,147,380	L209F	probably damaging	Het
Tll1	G	T	8: 64,038,586		probably null	Het
Tmem38b	T	C	4: 53,840,765	L60S	probably damaging	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Trim30b	A	G	7: 104,366,142	V13A	probably damaging	Het
Trip11	G	A	12: 101,889,742	T425I	probably benign	Het
Ttn	C	A	2: 76,889,973		probably benign	Het
Tymp	GC	GCC	15: 89,374,364		probably null	Het
Ush2a	T	A	1: 188,267,023	S177T	probably damaging	Het
Usp40	A	T	1: 87,978,559	S651R	probably benign	Het
Vmn1r125	T	C	7: 21,272,719	S181P	probably damaging	Het
Vmn1r198	T	A	13: 22,354,758	V138D	possibly damaging	Het
Vmn1r56	A	G	7: 5,196,318	L100P	probably damaging	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r53	A	C	7: 12,581,881	H670Q	probably benign	Het
Vmn2r69	A	T	7: 85,406,503	I809N	probably damaging	Het
Wdr7	G	A	18: 63,728,469	G184D	probably damaging	Het
Wnk1	C	T	6: 120,037,601	G11D	probably damaging	Het
Zfp110	A	C	7: 12,844,675	E171A	possibly damaging	Het
Zkscan6	T	C	11: 65,815,931	V134A	probably damaging	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
BB005:Rhbdf1	UTSW	11	32209898	missense	possibly damaging	0.93
BB015:Rhbdf1	UTSW	11	32209898	missense	possibly damaging	0.93
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	splice site	probably null
R1952:Rhbdf1	UTSW	11	32214277	nonsense	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	splice site	probably null
R5728:Rhbdf1	UTSW	11	32209901	splice site	probably null
R5925:Rhbdf1	UTSW	11	32212906	missense	probably benign	0.24
R5940:Rhbdf1	UTSW	11	32209847	missense	probably benign	0.00
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
R7928:Rhbdf1	UTSW	11	32209898	missense	possibly damaging	0.93
R7940:Rhbdf1	UTSW	11	32216258	start codon destroyed	possibly damaging	0.79
R7957:Rhbdf1	UTSW	11	32210523	missense	probably damaging	1.00
R8220:Rhbdf1	UTSW	11	32214563	missense	probably benign	0.30
R8490:Rhbdf1	UTSW	11	32210162	missense	probably damaging	0.98
R8939:Rhbdf1	UTSW	11	32210093	missense	probably benign	0.00
R9040:Rhbdf1	UTSW	11	32213063	missense	probably benign	0.23
R9257:Rhbdf1	UTSW	11	32210754	missense	probably benign	0.00
V3553:Rhbdf1	UTSW	11	32211583	missense	probably damaging	1.00
Z1176:Rhbdf1	UTSW	11	32215125	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCCGTGAAAGGGATGCAG -3'
(R):5'- GTGCAGCCTCAGTAGCTTAGAG -3'

Posted On

2017-07-14