Mutagenetix > Incidental Mutation

Incidental Mutation 'R6361:Rhbdf1'

513126

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf1

Ensembl Gene

ENSMUSG00000020282

Gene Name

rhomboid 5 homolog 1

Synonyms

Dist, Dist1, Egfr-rs

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6361 (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 32212915 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 451 (N451D)

Ref Sequence

ENSEMBL: ENSMUSP00000020524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020524] [ENSMUST00000039601] [ENSMUST00000121182] [ENSMUST00000132578] [ENSMUST00000143988] [ENSMUST00000144902] [ENSMUST00000146179] [ENSMUST00000149043] [ENSMUST00000150381]

AlphaFold

Q6PIX5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020524
AA Change: N451D

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: N451D

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 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: 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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

98% (43/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,972,695	D676V	probably benign	Het
6430531B16Rik	T	A	7: 139,976,672	D134V	possibly damaging	Het
Asap1	C	T	15: 64,349,823		probably null	Het
Cabin1	G	A	10: 75,726,865	A29V	possibly damaging	Het
Cadps	G	A	14: 12,491,778	Q791*	probably null	Het
Cdc14b	T	C	13: 64,216,209		probably null	Het
Cep89	C	T	7: 35,398,047	P33S	probably damaging	Het
Clec18a	A	G	8: 111,081,029		probably benign	Het
Cln5	T	A	14: 103,076,201	D296E	probably benign	Het
Col6a4	A	T	9: 106,066,703	S1191T	probably benign	Het
Crispld1	A	G	1: 17,762,231	I480M	probably damaging	Het
Dhrs7	A	C	12: 72,664,659	L32V	probably damaging	Het
Dscam	T	C	16: 96,622,811	T1645A	probably benign	Het
Eif2b3	A	G	4: 117,028,425	T55A	possibly damaging	Het
Ercc6	T	C	14: 32,517,110	Y52H	probably benign	Het
Fam170b	C	A	14: 32,836,071	Q288K	unknown	Het
Flt4	A	G	11: 49,630,578	T442A	probably benign	Het
Gm19402	A	T	10: 77,690,061		probably benign	Het
Gm4841	A	G	18: 60,270,760	I87T	probably damaging	Het
Hspb7	A	G	4: 141,422,549	E82G	possibly damaging	Het
Itgb3	A	G	11: 104,665,582	K750E	possibly damaging	Het
Itsn2	A	G	12: 4,629,655	M155V	probably benign	Het
March8	A	T	6: 116,402,101	D332V	probably null	Het
Mst1r	A	G	9: 107,915,853	M1042V	probably benign	Het
Muc4	T	C	16: 32,767,351	F2756L	probably benign	Het
Myl6b	T	A	10: 128,497,209	K55*	probably null	Het
Olfr1230	A	T	2: 89,296,646	I208N	probably damaging	Het
Olfr1301	G	T	2: 111,754,595	L115F	probably damaging	Het
Olfr150	A	C	9: 39,737,672	N286H	probably damaging	Het
Olfr348	A	G	2: 36,786,780	N85S	probably damaging	Het
Olfr830	T	C	9: 18,875,731	Y132H	probably damaging	Het
Pcca	A	G	14: 122,638,382	D141G	probably benign	Het
Pkd2	C	T	5: 104,486,680	R526*	probably null	Het
Polr2a	C	A	11: 69,743,337	A756S	probably damaging	Het
Prkd2	T	C	7: 16,847,654	S145P	probably damaging	Het
Rundc3a	G	A	11: 102,400,795	R358Q	probably damaging	Het
Tbc1d4	T	C	14: 101,507,174	K339E	probably damaging	Het
Usp37	A	G	1: 74,453,893	I723T	probably benign	Het
Vwa2	A	T	19: 56,901,526		probably null	Het
Zdbf2	A	C	1: 63,303,321	R286S	possibly damaging	Het
Zfp422	G	A	6: 116,626,820	H73Y	probably damaging	Het
Zfp868	T	C	8: 69,611,913	H257R	probably damaging	Het
Zzef1	A	G	11: 72,884,349	S1723G	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
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
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'- AGGATGAAGCTGTGCACCTG -3'
(R):5'- CTGTGTGCATCTATGGCATAGC -3'

Sequencing Primer
(F):5'- AAGCTGTGCACCTGTGGGTC -3'
(R):5'- AACTTGGAGTCTAGGCTG -3'

Posted On

2018-04-27