Mutagenetix > Incidental Mutation

Incidental Mutation 'R6083:Rhbdf1'

482317

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf1

Ensembl Gene

ENSMUSG00000020282

Gene Name

rhomboid 5 homolog 1

Synonyms

Dist, Egfr-rs, Dist1

MMRRC Submission

044242-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R6083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32159585-32172300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32160066 bp (GRCm39)

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] [ENSMUST00000149043] [ENSMUST00000146179]

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

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

noncoding transcript
Transcript: ENSMUST00000143036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155736

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

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

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: 58,769,677 (GRCm39)	P73Q	possibly damaging	Het
Aak1	A	T	6: 86,940,978 (GRCm39)	I591F	unknown	Het
Ace	C	A	11: 105,876,093 (GRCm39)	Y816*	probably null	Het
Ahnak2	A	G	12: 112,746,715 (GRCm39)	V1205A	probably benign	Het
Ahnak2	T	G	12: 112,746,589 (GRCm39)	Q1076P	probably benign	Het
Ap2a1	G	A	7: 44,557,175 (GRCm39)	R263W	probably damaging	Het
Arhgap29	A	G	3: 121,786,397 (GRCm39)	T257A	probably benign	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Ccdc17	A	T	4: 116,454,123 (GRCm39)	Q47L	possibly damaging	Het
Cep170	C	T	1: 176,602,191 (GRCm39)	R305H	probably damaging	Het
Cyb5r4	C	T	9: 86,939,221 (GRCm39)	P335S	probably damaging	Het
Cyp2c54	A	G	19: 40,062,206 (GRCm39)	L17P	probably benign	Het
Cyp2c69	A	T	19: 39,837,900 (GRCm39)	V394E	probably damaging	Het
Dedd2	G	A	7: 24,910,715 (GRCm39)	P154S	probably benign	Het
Defb36	A	T	2: 152,446,408 (GRCm39)	M1L	unknown	Het
Dnaja1	A	G	4: 40,731,713 (GRCm39)	D263G	probably benign	Het
Dock10	T	C	1: 80,510,148 (GRCm39)	N1560S	probably damaging	Het
Efnb2	T	C	8: 8,672,328 (GRCm39)		probably null	Het
Eif3e	A	G	15: 43,129,540 (GRCm39)	I196T	probably damaging	Het
Ercc4	T	A	16: 12,927,903 (GRCm39)	C24*	probably null	Het
Fmn1	A	G	2: 113,194,648 (GRCm39)	E116G	unknown	Het
Gnas	A	G	2: 174,139,655 (GRCm39)	M1V	probably null	Het
Grin2a	C	A	16: 9,397,404 (GRCm39)	M894I	probably benign	Het
Herc2	G	T	7: 55,878,253 (GRCm39)	S4566I	probably benign	Het
Hmcn1	G	A	1: 150,631,044 (GRCm39)	P918L	probably damaging	Het
Hmcn1	G	T	1: 150,631,045 (GRCm39)	P918T	probably damaging	Het
Hsd3b2	T	A	3: 98,619,372 (GRCm39)	Y191F	possibly damaging	Het
Ifit1bl2	A	C	19: 34,597,217 (GRCm39)	F133C	possibly damaging	Het
Itih2	T	C	2: 10,113,705 (GRCm39)		probably benign	Het
Itsn1	T	C	16: 91,649,899 (GRCm39)	L191P	probably benign	Het
Kdr	T	C	5: 76,105,026 (GRCm39)	K1068R	probably damaging	Het
Lmtk2	T	C	5: 144,119,574 (GRCm39)	L1345P	probably damaging	Het
Man2b2	T	A	5: 36,966,385 (GRCm39)	D936V	probably damaging	Het
Mapk1ip1	G	A	7: 138,438,317 (GRCm39)	R38*	probably null	Het
Med13l	T	C	5: 118,859,551 (GRCm39)	V246A	possibly damaging	Het
Mlec	T	A	5: 115,286,108 (GRCm39)	T248S	probably benign	Het
Mslnl	T	A	17: 25,956,876 (GRCm39)	V54D	possibly damaging	Het
Muc16	G	A	9: 18,568,508 (GRCm39)	T1337I	unknown	Het
Nek7	C	T	1: 138,443,392 (GRCm39)	S187N	probably damaging	Het
Neto2	A	G	8: 86,367,214 (GRCm39)	V538A	probably benign	Het
Nktr	T	C	9: 121,579,202 (GRCm39)		probably benign	Het
Npy6r	A	G	18: 44,409,559 (GRCm39)	K327E	probably damaging	Het
Or2ag1	A	G	7: 106,472,789 (GRCm39)	I221T	probably damaging	Het
Or3a1c	A	G	11: 74,046,396 (GRCm39)	M139V	possibly damaging	Het
Or4a72	T	C	2: 89,406,016 (GRCm39)	D18G	probably benign	Het
Or4c123	T	A	2: 89,127,368 (GRCm39)	D82V	probably damaging	Het
Or5b109	A	T	19: 13,211,889 (GRCm39)	I92F	probably benign	Het
Pcdhga4	A	T	18: 37,820,478 (GRCm39)	N676Y	probably damaging	Het
Pde2a	T	C	7: 101,152,086 (GRCm39)	I331T	possibly damaging	Het
Pip5k1b	A	T	19: 24,281,399 (GRCm39)	Y486*	probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Rbm12	G	A	2: 155,939,646 (GRCm39)		probably benign	Het
Rgs19	T	C	2: 181,331,300 (GRCm39)	E111G	probably damaging	Het
Rnf4	T	A	5: 34,508,565 (GRCm39)		probably null	Het
Rpa1	T	C	11: 75,205,737 (GRCm39)	T207A	probably damaging	Het
Rufy4	A	C	1: 74,168,556 (GRCm39)	Q113P	probably damaging	Het
Sh3pxd2b	T	G	11: 32,372,985 (GRCm39)	S717R	probably benign	Het
Sin3a	A	T	9: 57,014,824 (GRCm39)	I682F	probably damaging	Het
Sipa1l2	A	T	8: 126,195,212 (GRCm39)	V842E	possibly damaging	Het
Slc5a4a	A	G	10: 75,983,431 (GRCm39)	I23V	unknown	Het
Slitrk5	A	G	14: 111,919,157 (GRCm39)	N927S	probably benign	Het
Smc6	A	G	12: 11,326,354 (GRCm39)	K117R	possibly damaging	Het
Sod2	G	A	17: 13,226,918 (GRCm39)		probably benign	Het
Stxbp1	A	G	2: 32,686,030 (GRCm39)	I567T	possibly damaging	Het
Tbkbp1	C	A	11: 97,038,206 (GRCm39)	L209F	probably damaging	Het
Tll1	G	T	8: 64,491,620 (GRCm39)		probably null	Het
Tmem38b	T	C	4: 53,840,765 (GRCm39)	L60S	probably damaging	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Trim30b	A	G	7: 104,015,349 (GRCm39)	V13A	probably damaging	Het
Trip11	G	A	12: 101,856,001 (GRCm39)	T425I	probably benign	Het
Ttn	C	A	2: 76,720,317 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ush2a	T	A	1: 187,999,220 (GRCm39)	S177T	probably damaging	Het
Usp40	A	T	1: 87,906,281 (GRCm39)	S651R	probably benign	Het
Vmn1r125	T	C	7: 21,006,644 (GRCm39)	S181P	probably damaging	Het
Vmn1r198	T	A	13: 22,538,928 (GRCm39)	V138D	possibly damaging	Het
Vmn1r56	A	G	7: 5,199,317 (GRCm39)	L100P	probably damaging	Het
Vmn2r32	T	A	7: 7,467,209 (GRCm39)	D773V	probably benign	Het
Vmn2r53	A	C	7: 12,315,808 (GRCm39)	H670Q	probably benign	Het
Vmn2r69	A	T	7: 85,055,711 (GRCm39)	I809N	probably damaging	Het
Wdr7	G	A	18: 63,861,540 (GRCm39)	G184D	probably damaging	Het
Wnk1	C	T	6: 120,014,562 (GRCm39)	G11D	probably damaging	Het
Zfp110	A	C	7: 12,578,602 (GRCm39)	E171A	possibly damaging	Het
Zkscan6	T	C	11: 65,706,757 (GRCm39)	V134A	probably damaging	Het

Other mutations in Rhbdf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01863:Rhbdf1	APN	11	32,163,484 (GRCm39)	missense	probably benign
IGL02183:Rhbdf1	APN	11	32,160,543 (GRCm39)	missense	probably damaging	1.00
IGL02793:Rhbdf1	APN	11	32,163,293 (GRCm39)	missense	possibly damaging	0.92
IGL02875:Rhbdf1	APN	11	32,163,293 (GRCm39)	missense	possibly damaging	0.92
BB005:Rhbdf1	UTSW	11	32,159,898 (GRCm39)	missense	possibly damaging	0.93
BB015:Rhbdf1	UTSW	11	32,159,898 (GRCm39)	missense	possibly damaging	0.93
FR4589:Rhbdf1	UTSW	11	32,164,391 (GRCm39)	unclassified	probably benign
R0071:Rhbdf1	UTSW	11	32,160,498 (GRCm39)	missense	probably damaging	1.00
R0180:Rhbdf1	UTSW	11	32,160,042 (GRCm39)	missense	possibly damaging	0.76
R0512:Rhbdf1	UTSW	11	32,160,875 (GRCm39)	nonsense	probably null
R0843:Rhbdf1	UTSW	11	32,165,053 (GRCm39)	missense	probably damaging	1.00
R0880:Rhbdf1	UTSW	11	32,163,432 (GRCm39)	splice site	probably null
R1952:Rhbdf1	UTSW	11	32,164,277 (GRCm39)	nonsense	probably null
R2017:Rhbdf1	UTSW	11	32,160,471 (GRCm39)	missense	probably damaging	1.00
R2076:Rhbdf1	UTSW	11	32,164,088 (GRCm39)	missense	probably benign	0.01
R3032:Rhbdf1	UTSW	11	32,159,985 (GRCm39)	missense	probably damaging	1.00
R4355:Rhbdf1	UTSW	11	32,166,236 (GRCm39)	missense	probably damaging	1.00
R4429:Rhbdf1	UTSW	11	32,163,369 (GRCm39)	missense	probably benign	0.00
R4865:Rhbdf1	UTSW	11	32,164,517 (GRCm39)	missense	probably damaging	1.00
R5585:Rhbdf1	UTSW	11	32,160,222 (GRCm39)	splice site	probably null
R5728:Rhbdf1	UTSW	11	32,159,901 (GRCm39)	splice site	probably null
R5925:Rhbdf1	UTSW	11	32,162,906 (GRCm39)	missense	probably benign	0.24
R5940:Rhbdf1	UTSW	11	32,159,847 (GRCm39)	missense	probably benign	0.00
R6088:Rhbdf1	UTSW	11	32,162,007 (GRCm39)	missense	possibly damaging	0.62
R6361:Rhbdf1	UTSW	11	32,162,915 (GRCm39)	missense	possibly damaging	0.92
R6692:Rhbdf1	UTSW	11	32,165,652 (GRCm39)	missense	probably damaging	0.98
R6727:Rhbdf1	UTSW	11	32,164,042 (GRCm39)	missense	possibly damaging	0.78
R6825:Rhbdf1	UTSW	11	32,159,970 (GRCm39)	missense	probably damaging	1.00
R7589:Rhbdf1	UTSW	11	32,162,903 (GRCm39)	missense	probably benign	0.01
R7928:Rhbdf1	UTSW	11	32,159,898 (GRCm39)	missense	possibly damaging	0.93
R7940:Rhbdf1	UTSW	11	32,166,258 (GRCm39)	start codon destroyed	possibly damaging	0.79
R7957:Rhbdf1	UTSW	11	32,160,523 (GRCm39)	missense	probably damaging	1.00
R8220:Rhbdf1	UTSW	11	32,164,563 (GRCm39)	missense	probably benign	0.30
R8490:Rhbdf1	UTSW	11	32,160,162 (GRCm39)	missense	probably damaging	0.98
R8939:Rhbdf1	UTSW	11	32,160,093 (GRCm39)	missense	probably benign	0.00
R9040:Rhbdf1	UTSW	11	32,163,063 (GRCm39)	missense	probably benign	0.23
R9257:Rhbdf1	UTSW	11	32,160,754 (GRCm39)	missense	probably benign	0.00
R9509:Rhbdf1	UTSW	11	32,165,055 (GRCm39)	missense	possibly damaging	0.96
R9575:Rhbdf1	UTSW	11	32,163,101 (GRCm39)	missense	probably benign	0.00
R9654:Rhbdf1	UTSW	11	32,166,028 (GRCm39)	missense	probably benign
V3553:Rhbdf1	UTSW	11	32,161,583 (GRCm39)	missense	probably damaging	1.00
Z1176:Rhbdf1	UTSW	11	32,165,125 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

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

Posted On

2017-07-14