Mutagenetix > Incidental Mutation

Incidental Mutation 'R9257:Rhbdf1'

701960

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf1

Ensembl Gene

ENSMUSG00000020282

Gene Name

rhomboid 5 homolog 1

Synonyms

Dist, Dist1, Egfr-rs

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R9257 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32209585-32222300 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32210754 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 634 (H634R)

Ref Sequence

ENSEMBL: ENSMUSP00000020524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020524] [ENSMUST00000039601] [ENSMUST00000121182] [ENSMUST00000132578] [ENSMUST00000143988] [ENSMUST00000146179] [ENSMUST00000149043] [ENSMUST00000150381]

AlphaFold

Q6PIX5

Predicted Effect

probably benign
Transcript: ENSMUST00000020524
AA Change: H634R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: H634R

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

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

probably benign
Transcript: ENSMUST00000143988
AA Change: H37R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117471
Gene: ENSMUSG00000020282
AA Change: H37R

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

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	A	2: 151,473,707	D17V	probably benign	Het
4933415F23Rik	G	T	1: 23,102,194	T13N	probably benign	Het
9130401M01Rik	A	C	15: 58,029,018	H128Q	possibly damaging	Het
Abcd2	T	C	15: 91,191,112	Y166C	possibly damaging	Het
Adamtsl4	C	A	3: 95,681,265	V546F	probably damaging	Het
AI464131	T	C	4: 41,499,030	D200G	probably benign	Het
Als2cl	T	A	9: 110,894,687	V717E	probably damaging	Het
Atm	A	G	9: 53,495,850		probably null	Het
Atp2c1	C	A	9: 105,414,652	E904*	probably null	Het
Ccdc88c	G	A	12: 100,923,215	S1523F	possibly damaging	Het
Cds1	A	T	5: 101,815,885	I357F	probably benign	Het
Cilp	T	A	9: 65,267,169	V13D	possibly damaging	Het
Copz2	A	G	11: 96,857,560	D180G	possibly damaging	Het
Cpsf1	C	T	15: 76,600,792	E546K	probably benign	Het
Ctsm	T	C	13: 61,536,599	N320D	probably damaging	Het
Fat3	G	A	9: 15,996,567	T2713I	probably benign	Het
Fcrl5	T	A	3: 87,435,888	S2T	probably benign	Het
Fgfr4	T	C	13: 55,168,161	S796P	unknown	Het
Flrt3	A	G	2: 140,660,239	F490L	probably benign	Het
Fras1	A	T	5: 96,762,500	I3263F	probably damaging	Het
Gm13089	T	A	4: 143,699,115	D86V	probably damaging	Het
Hydin	A	T	8: 110,575,016	D3793V	probably damaging	Het
Kif5c	T	A	2: 49,700,592	L269*	probably null	Het
Klhl32	A	G	4: 24,649,608	V396A	probably benign	Het
Krt2	C	T	15: 101,816,491	R228Q	probably benign	Het
Lcn9	T	C	2: 25,824,772		probably null	Het
Lingo4	A	C	3: 94,403,369	D538A	probably benign	Het
Lonp1	G	T	17: 56,620,516	Y299*	probably null	Het
Mettl16	T	A	11: 74,817,301	V442D	possibly damaging	Het
Mis18bp1	A	G	12: 65,133,857	V950A	probably benign	Het
Mndal	A	T	1: 173,862,708	V352E	probably damaging	Het
Mrpl55	T	C	11: 59,205,752	V117A	probably benign	Het
Muc6	T	A	7: 141,640,471	S1430C	unknown	Het
Myh11	C	A	16: 14,269,256	G119C		Het
Neu1	A	G	17: 34,931,420	D5G	probably benign	Het
Nrcam	T	A	12: 44,564,054	D512E	probably benign	Het
Nup214	T	G	2: 32,033,335	V1292G	possibly damaging	Het
Nwd1	T	A	8: 72,670,938	L602M	probably damaging	Het
Olfr803	C	A	10: 129,691,134	L302F	probably benign	Het
Pck2	G	T	14: 55,545,245	G379W	probably damaging	Het
Per2	C	T	1: 91,448,723	V143M	probably damaging	Het
Pfkl	A	T	10: 77,989,655	Y634N	probably damaging	Het
Phlpp1	A	G	1: 106,172,551	D183G	possibly damaging	Het
Pkdrej	T	A	15: 85,815,897	Y1946F	probably damaging	Het
Plxna4	C	T	6: 32,162,083	D1717N	probably damaging	Het
Prdm16	A	T	4: 154,337,698	V879E	probably damaging	Het
Prr23a3	T	C	9: 98,865,245	V84A	probably benign	Het
Ptp4a1	A	G	1: 30,946,265		probably benign	Het
Rmi2	T	C	16: 10,835,225	S46P	probably benign	Het
Rrnad1	G	T	3: 87,924,461	Q397K	probably benign	Het
Rsf1	A	T	7: 97,685,711	E1350D		Het
Slc6a6	T	A	6: 91,739,971	F276Y	possibly damaging	Het
Sppl3	A	G	5: 115,083,473	Y120C	probably benign	Het
Stard13	G	T	5: 151,062,491	A518E	probably benign	Het
Taf2	A	T	15: 55,066,013	V49E	possibly damaging	Het
Tas2r137	T	A	6: 40,491,658	W141R	probably damaging	Het
Tlx2	T	A	6: 83,070,054	H9L	unknown	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tmem132d	G	A	5: 127,784,427	Q877*	probably null	Het
Unc5d	A	T	8: 28,725,146		probably null	Het
Upp1	A	T	11: 9,125,661	T4S	probably benign	Het
Uros	A	T	7: 133,691,124	I146N	probably damaging	Het
Vsig10	A	T	5: 117,325,066	D119V	probably benign	Het
Washc2	C	A	6: 116,216,108	Y138*	probably null	Het
Ywhah	T	A	5: 33,026,751	D99E	probably benign	Het
Zdbf2	G	A	1: 63,306,241	G1260R	probably damaging	Het
Zfp663	T	C	2: 165,354,054	T82A	probably benign	Het
Zfp831	T	A	2: 174,646,363	C944S	possibly 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
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
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
R9509:Rhbdf1	UTSW	11	32215055	missense	possibly damaging	0.96
R9575:Rhbdf1	UTSW	11	32213101	missense	not run
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'- AAGGGAGCTTCTCTTTTGCC -3'
(R):5'- AGAGCACAGGTGACTATAGATCTC -3'

Sequencing Primer
(F):5'- GGAGCTTCTCTTTTGCCTCCAG -3'
(R):5'- GGTGACTATAGATCTCAGCAGCCTC -3'

Posted On

2022-03-25