Mutagenetix > Incidental Mutations

Incidental Mutation 'R6727:Rhbdf1'

529918

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: 0.155) question?

Stock #

R6727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32209585-32222300 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32214042 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 288 (A288E)

Ref Sequence

ENSEMBL: ENSMUSP00000020524 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020524
AA Change: A288E

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: A288E

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: 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: ENSMUST00000150381

SMART Domains

Protein: ENSMUSP00000118769
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC

Meta Mutation Damage Score

0.0837

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

98% (44/45)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109A12Rik	A	G	5: 93,206,575		probably benign	Het
4930563M21Rik	C	T	9: 55,989,476	V283I	possibly damaging	Het
4933408B17Rik	T	A	18: 34,580,841	M244L	probably benign	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Allc	T	A	12: 28,557,389	H288L	probably damaging	Het
Atg16l1	T	C	1: 87,774,854	I279T	possibly damaging	Het
Atp6v1b1	A	G	6: 83,751,875		probably benign	Het
Barhl1	G	A	2: 28,915,483	P66L	probably benign	Het
Cfap58	A	T	19: 47,955,417	D352V	probably benign	Het
Cyp3a44	T	A	5: 145,794,971	K122*	probably null	Het
Dnaic1	G	T	4: 41,625,308	R424L	probably benign	Het
Dync1li2	G	T	8: 104,440,535	H79Q	probably damaging	Het
Fem1b	A	G	9: 62,796,733	V415A	possibly damaging	Het
Fgb	C	T	3: 83,046,787	S48N	possibly damaging	Het
Gm5624	T	C	14: 44,561,875	D31G	possibly damaging	Het
Gm8909	A	T	17: 36,165,730	V284E	probably damaging	Het
Gzmn	T	A	14: 56,165,975	I226F	probably damaging	Het
Il31ra	T	C	13: 112,547,368	S184G	probably damaging	Het
Insrr	C	T	3: 87,813,566	R1044C	probably damaging	Het
Kcnj15	A	G	16: 95,296,334	S272G	probably damaging	Het
Kcnk16	C	T	14: 20,262,929	A106T	probably benign	Het
Kmt2b	A	G	7: 30,584,559	V876A	probably damaging	Het
Large2	G	T	2: 92,370,870		probably benign	Het
Maml2	A	T	9: 13,621,551		probably benign	Het
Me1	A	G	9: 86,582,798	L533P	possibly damaging	Het
Muc16	A	G	9: 18,566,690		probably null	Het
Nova2	C	A	7: 18,958,494	T516K	probably damaging	Het
Olfr365	T	A	2: 37,202,106	N288K	probably damaging	Het
Olfr657	T	C	7: 104,635,887	I71T	probably damaging	Het
Otogl	G	A	10: 107,777,117		silent	Het
Ppp2r1a	T	A	17: 20,955,825	V103E	probably benign	Het
Prl3d3	G	A	13: 27,157,164		probably null	Het
Rnf213	T	C	11: 119,430,321	S1202P	possibly damaging	Het
Slc25a17	A	G	15: 81,337,953	V106A	probably benign	Het
Slc4a4	T	G	5: 89,170,765	S640A	probably benign	Het
Smc4	T	A	3: 69,016,772	Y298N	probably damaging	Het
Tek	G	T	4: 94,853,495	G830*	probably null	Het
Tgfb1	A	T	7: 25,689,162		probably benign	Het
Themis	T	C	10: 28,781,907	I157T	probably damaging	Het
Trmt12	A	G	15: 58,872,665		probably benign	Het
Trrap	T	C	5: 144,856,950	W3654R	probably damaging	Het
Tspan3	C	T	9: 56,147,440	G108S	probably damaging	Het
Ugt1a10	T	A	1: 88,056,257		probably null	Het
Vps13b	A	G	15: 35,770,683	K2091E	probably benign	Het
Wdr62	A	T	7: 30,271,620	V184D	probably damaging	Het
Zfp958	C	A	8: 4,628,247	Q90K	probably benign	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	unclassified	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	unclassified	probably null
R5728:Rhbdf1	UTSW	11	32209901	unclassified	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
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
R8220:Rhbdf1	UTSW	11	32214563	missense	probably benign	0.30
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'- CCAGGCTAGATTCCAAAGTCC -3'
(R):5'- CTGCCAGCTTTCTTGAGGAAG -3'

Sequencing Primer
(F):5'- GGCTAGATTCCAAAGTCCAAGCTATG -3'
(R):5'- CCAGCTTTCTTGAGGAAGACATG -3'

Posted On

2018-08-01