Mutagenetix > Incidental Mutation

Incidental Mutation 'R4429:Rhbdf1'

328334

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf1

Ensembl Gene

ENSMUSG00000020282

Gene Name

rhomboid 5 homolog 1

Synonyms

Dist, Dist1, Egfr-rs

MMRRC Submission

041699-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32209585-32222300 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32213369 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 368 (E368K)

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

probably benign
Transcript: ENSMUST00000020524
AA Change: E368K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: E368K

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Abca5	T	C	11: 110,311,410	T390A	probably benign	Het
Ahcyl2	T	G	6: 29,894,875	V452G	probably damaging	Het
Ano4	T	A	10: 88,992,942	N545I	probably damaging	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
Catip	T	A	1: 74,368,732		probably benign	Het
Chrna4	A	G	2: 181,028,620	S448P	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Cnpy3	T	A	17: 46,747,144	Q111L	probably benign	Het
Dnah8	A	G	17: 30,752,146	N2725D	probably damaging	Het
Dock8	T	C	19: 25,065,390	V112A	probably benign	Het
Ephb3	G	A	16: 21,214,463	E66K	probably damaging	Het
Gm6594	T	A	17: 82,539,494	D79E	probably benign	Het
Gtf2e2	T	A	8: 33,752,493	Y74*	probably null	Het
Hacd4	A	T	4: 88,434,947	F103I	possibly damaging	Het
Hap1	T	C	11: 100,354,272	T38A	probably benign	Het
Havcr2	T	A	11: 46,456,560	D72E	probably damaging	Het
Iqcg	G	A	16: 33,019,490	T362I	probably benign	Het
Lect2	C	T	13: 56,545,725		probably null	Het
Lemd3	T	C	10: 120,977,988	T447A	probably benign	Het
Lrrc72	T	C	12: 36,208,624	N78S	probably damaging	Het
Map3k14	A	G	11: 103,227,584	L592P	probably damaging	Het
Meioc	T	C	11: 102,675,720	Y721H	probably damaging	Het
Mrps10	T	A	17: 47,378,199		probably null	Het
Myo5c	A	G	9: 75,294,001	Y1406C	probably damaging	Het
Myo7a	T	C	7: 98,053,188	Y2098C	probably damaging	Het
Nol9	C	T	4: 152,041,174	T194I	probably damaging	Het
Nox3	G	A	17: 3,682,958	T206I	probably benign	Het
Nsd2	T	G	5: 33,843,202	M21R	probably damaging	Het
Pcdh9	T	C	14: 93,887,384	N327S	probably damaging	Het
Pclo	T	G	5: 14,678,100		probably benign	Het
Pparg	T	A	6: 115,440,023	M59K	probably benign	Het
Prag1	A	G	8: 36,146,642	K1116R	probably damaging	Het
Rita1	A	G	5: 120,609,561	V224A	probably damaging	Het
Rsph6a	T	A	7: 19,074,063	W384R	probably damaging	Het
Scn1a	A	T	2: 66,350,985	Y65N	possibly damaging	Het
Serpina5	C	A	12: 104,103,406	F292L	probably benign	Het
Sf3b3	A	C	8: 110,826,118	L511V	probably benign	Het
Siglecg	C	T	7: 43,417,926	P639L	possibly damaging	Het
Slc12a3	A	T	8: 94,343,085	I541F	probably damaging	Het
Slco6d1	T	C	1: 98,496,366	V581A	possibly damaging	Het
Sptbn2	T	C	19: 4,738,355	Y1121H	probably damaging	Het
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Timm29	G	C	9: 21,593,479	A148P	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem67	T	A	4: 12,051,473	N785I	possibly damaging	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Uba6	C	T	5: 86,120,547	V941I	probably damaging	Het
Vmn1r174	T	C	7: 23,754,140	V77A	probably benign	Het
Zfp661	A	G	2: 127,578,708	V57A	probably damaging	Het
Zfp867	C	T	11: 59,465,037	D64N	possibly damaging	Het
Zp3r	T	C	1: 130,591,391	T294A	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
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
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'- ACAGCCAGAATGGTGACCAG -3'
(R):5'- TCCAGGCAGGAAGTGAACAC -3'

Sequencing Primer
(F):5'- TGGTGACCAGTGAGTGCAC -3'
(R):5'- AAGTGAACACGCTGGCC -3'

Posted On

2015-07-07