Mutagenetix > Incidental Mutations

Incidental Mutation 'R7957:Rhbdf1'

649903

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: 0.162) question?

Stock #

R7957 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32209585-32222300 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32210523 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 676 (F676L)

Ref Sequence

ENSEMBL: ENSMUSP00000020524 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020524
AA Change: F676L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: F676L

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

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: 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: 99.7%
20x: 99.0%

Validation Efficiency

98% (46/47)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 110,091,613	M1T	probably null	Het
Abhd2	T	A	7: 79,325,446	M128K	probably benign	Het
Adamts12	A	G	15: 11,317,212	T1333A	possibly damaging	Het
Alg8	A	G	7: 97,390,924	T438A	probably benign	Het
Cebpa	A	G	7: 35,120,442	I342V	possibly damaging	Het
Chd9	T	C	8: 91,051,698	M2779T	probably damaging	Het
Cnot3	C	A	7: 3,658,222	P577T	probably benign	Het
Col17a1	T	C	19: 47,661,117	D755G	probably damaging	Het
Col5a3	A	G	9: 20,774,051	V1443A	unknown	Het
Crygs	C	T	16: 22,805,332	R175H	probably damaging	Het
Fam193a	A	G	5: 34,462,086	D1031G	probably damaging	Het
Fam83b	T	A	9: 76,491,985	H612L	probably benign	Het
Gabrr2	A	G	4: 33,081,410	T149A	probably damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm3667	T	C	14: 6,872,332	N156D	probably benign	Het
Hpcal1	T	A	12: 17,791,170	L183Q	probably damaging	Het
Ilf2	G	T	3: 90,487,470	E342*	probably null	Het
Ints13	A	G	6: 146,550,766	S652P	probably damaging	Het
Kansl2	C	A	15: 98,524,618	E356D	probably benign	Het
Klhl6	T	C	16: 19,949,451	E448G	probably null	Het
Mmp14	A	G	14: 54,436,250	I124V	probably benign	Het
Morc2b	A	T	17: 33,135,773	D1008E	probably benign	Het
Muc16	A	C	9: 18,643,471	V3842G	unknown	Het
Myo9b	A	T	8: 71,354,761	I1614F	probably benign	Het
Nipa1	A	T	7: 55,979,799	C189S	probably damaging	Het
Nov	G	T	15: 54,746,338	S78I	possibly damaging	Het
Ntn4	T	C	10: 93,644,473		probably benign	Het
Olfr1274-ps	A	T	2: 90,401,051	Y130F	probably damaging	Het
Olfr146	T	G	9: 39,019,053	I163L	probably benign	Het
Olfr329-ps	A	G	11: 58,542,798	L239P	probably damaging	Het
Olfr358	A	G	2: 37,004,960	I218T	probably benign	Het
Olfr399	A	C	11: 74,054,156	L201R	probably damaging	Het
Pank1	T	A	19: 34,813,696	H528L	probably damaging	Het
Pappa2	A	T	1: 158,761,561	L1698*	probably null	Het
Park7	A	G	4: 150,903,884	S85P	probably damaging	Het
Pik3r4	A	G	9: 105,687,209	D1334G	probably damaging	Het
Rapgef2	T	C	3: 79,214,969	E30G	probably benign	Het
Rsf1	GGC	GGCCACGGCAGC	7: 97,579,906		probably benign	Het
Scd4	G	T	19: 44,341,248	M219I	probably benign	Het
Slfn5	T	A	11: 82,956,787	I166N	probably benign	Het
Smim22	A	T	16: 5,008,225	D85V	probably damaging	Het
Socs2	T	C	10: 95,414,950	E7G	probably benign	Het
Thumpd2	T	C	17: 81,026,728	E477G	probably benign	Het
Tlr12	C	T	4: 128,616,690	G589D	probably benign	Het
Ttn	A	T	2: 76,764,855	I20317K	probably damaging	Het
Ttyh2	A	G	11: 114,708,864		probably null	Het
Ugt2a3	T	A	5: 87,327,191	D398V	probably damaging	Het
Vmn2r88	A	T	14: 51,413,132	M101L		Het
Vmn2r93	A	T	17: 18,325,692	R609*	probably null	Het
Zfp473	C	T	7: 44,732,492	E806K	probably damaging	Het
Zfp93	T	C	7: 24,275,574	L328P	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
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
R8220:Rhbdf1	UTSW	11	32214563	missense	probably benign	0.30
R8490:Rhbdf1	UTSW	11	32210162	missense	probably damaging	0.98
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'- GCCACAGGTACACATAGAGG -3'
(R):5'- CACTGCATGGACGATGTCTG -3'

Sequencing Primer
(F):5'- AGGTACACATAGAGGGTCCCC -3'
(R):5'- TCAATCCTGAGGTGCCTGAC -3'

Posted On

2020-09-15