Mutagenetix > Incidental Mutation

Incidental Mutation 'R1307:Rhof'

157827

Institutional Source

Beutler Lab

Gene Symbol

Rhof

Ensembl Gene

ENSMUSG00000029449

Gene Name

ras homolog family member F (in filopodia)

Synonyms

Arhf, Ifld1

MMRRC Submission

039373-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1307 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

123256243-123279871 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123258378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 151 (E151G)

Ref Sequence

ENSEMBL: ENSMUSP00000140177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031401] [ENSMUST00000067505] [ENSMUST00000111619] [ENSMUST00000160479] [ENSMUST00000186469]

AlphaFold

Q8BYP3

Predicted Effect

probably damaging
Transcript: ENSMUST00000031401
AA Change: E151G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031401
Gene: ENSMUSG00000029449
AA Change: E151G

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
RHO	22	195	1.5e-98	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000067505

SMART Domains

Protein: ENSMUSP00000068551
Gene: ENSMUSG00000054434

Domain	Start	End	E-Value	Type
Pfam:TMPIT	9	332	1.9e-158	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111619

SMART Domains

Protein: ENSMUSP00000107246
Gene: ENSMUSG00000054434

Domain	Start	End	E-Value	Type
Pfam:TMPIT	7	64	1.3e-14	PFAM
Pfam:TMPIT	60	298	1.3e-127	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160479
AA Change: E151G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124866
Gene: ENSMUSG00000029449
AA Change: E151G

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
RHO	22	195	1.5e-98	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162208

Predicted Effect

probably damaging
Transcript: ENSMUST00000186469
AA Change: E151G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140177
Gene: ENSMUSG00000029449
AA Change: E151G

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
RHO	22	195	1.5e-98	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181022

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.6%
20x: 91.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit macrothrombocytopenia without an effect on filopodia generation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc1	A	T	10: 59,848,321 (GRCm39)	I83L	probably benign	Het
Bcl2a1b	T	C	9: 89,081,543 (GRCm39)	V44A	probably damaging	Het
Bdp1	T	C	13: 100,186,271 (GRCm39)	D1727G	possibly damaging	Het
Cabp1	A	G	5: 115,310,965 (GRCm39)	F294L	probably damaging	Het
Coq8b	T	A	7: 26,950,016 (GRCm39)	M365K	probably damaging	Het
Gk2	A	T	5: 97,603,268 (GRCm39)	D523E	probably benign	Het
Havcr1	C	T	11: 46,647,097 (GRCm39)	T177I	probably damaging	Het
Kdm4a	T	C	4: 118,032,839 (GRCm39)	T76A	probably benign	Het
Lama4	A	T	10: 38,946,028 (GRCm39)	I804F	probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Pcdh10	A	G	3: 45,336,314 (GRCm39)	N876S	probably benign	Het
Polr3f	T	C	2: 144,375,113 (GRCm39)	V95A	probably damaging	Het
Ptk2	A	G	15: 73,163,895 (GRCm39)	V389A	probably benign	Het
Slc25a28	T	C	19: 43,655,470 (GRCm39)	N135S	probably benign	Het
Sphk1	G	A	11: 116,426,928 (GRCm39)	V295I	probably benign	Het
Sv2b	G	T	7: 74,856,182 (GRCm39)	T36K	probably damaging	Het
Sybu	T	C	15: 44,538,786 (GRCm39)	E291G	probably damaging	Het
Tnc	T	C	4: 63,927,096 (GRCm39)	E810G	probably damaging	Het
Uba52	T	C	8: 70,961,166 (GRCm39)	H68R	probably damaging	Het
Unc79	A	G	12: 103,036,335 (GRCm39)	N552S	probably damaging	Het
Ush2a	T	C	1: 188,090,164 (GRCm39)	C416R	probably damaging	Het
Ush2a	T	C	1: 188,184,037 (GRCm39)	V1447A	probably damaging	Het
Zfp985	C	T	4: 147,667,704 (GRCm39)	L191F	probably benign	Het

Other mutations in Rhof

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0811:Rhof	UTSW	5	123,269,950 (GRCm39)	missense	probably damaging	0.99
R0812:Rhof	UTSW	5	123,269,950 (GRCm39)	missense	probably damaging	0.99
R3926:Rhof	UTSW	5	123,242,593 (GRCm39)	critical splice acceptor site	probably null
R4125:Rhof	UTSW	5	123,257,588 (GRCm39)	missense	probably damaging	1.00
R4708:Rhof	UTSW	5	123,258,454 (GRCm39)	missense	probably benign	0.21
R5299:Rhof	UTSW	5	123,258,611 (GRCm39)	missense	probably damaging	1.00
R6732:Rhof	UTSW	5	123,269,999 (GRCm39)	missense	probably damaging	1.00
R8530:Rhof	UTSW	5	123,257,581 (GRCm39)	missense	probably damaging	0.98
R9024:Rhof	UTSW	5	123,269,963 (GRCm39)	nonsense	probably null
R9112:Rhof	UTSW	5	123,258,571 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCACCATGCACAGTATTTAACCC -3'
(R):5'- GATGTCATGAACCCCACCAGTTACG -3'

Sequencing Primer
(F):5'- catgcacagTATTTAACCCTTGTTTG -3'
(R):5'- AACGTCCTCATCAAGGTACTGTC -3'

Posted On

2014-02-18