Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00584:Farp1'

10686

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Farp1

Ensembl Gene

ENSMUSG00000025555

Gene Name

FERM, ARH/RhoGEF and pleckstrin domain protein 1

Synonyms

Cdep

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00584

Quality Score

Status

Chromosome

Chromosomal Location

121272612-121521156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 121474561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 258 (I258S)

Ref Sequence

ENSEMBL: ENSMUSP00000026635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026635] [ENSMUST00000135010]

AlphaFold

F8VPU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000026635
AA Change: I258S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026635
Gene: ENSMUSG00000025555
AA Change: I258S

Domain	Start	End	E-Value	Type
B41	36	230	3.27e-68	SMART
FERM_C	234	324	3.87e-32	SMART
FA	328	374	6.07e-16	SMART
RhoGEF	546	732	2.07e-47	SMART
PH	763	861	1.05e-16	SMART
PH	936	1034	1.55e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135010

SMART Domains

Protein: ENSMUSP00000116985
Gene: ENSMUSG00000025555

Domain	Start	End	E-Value	Type
B41	36	210	3.4e-48	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153607

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cep162	T	C	9: 87,103,143 (GRCm39)		probably benign	Het
Ces4a	G	T	8: 105,871,795 (GRCm39)	M288I	probably benign	Het
Dusp19	G	A	2: 80,461,126 (GRCm39)		probably null	Het
Eif4g1	C	A	16: 20,505,504 (GRCm39)		probably benign	Het
Galnt18	T	A	7: 111,071,202 (GRCm39)	Q589L	probably damaging	Het
Gimap7	T	A	6: 48,700,667 (GRCm39)	C84*	probably null	Het
Il12rb2	T	C	6: 67,334,676 (GRCm39)	T168A	probably damaging	Het
Krba1	T	C	6: 48,383,252 (GRCm39)	L216S	possibly damaging	Het
Mki67	T	C	7: 135,297,424 (GRCm39)	K2537E	probably damaging	Het
Myo6	G	T	9: 80,149,555 (GRCm39)		probably benign	Het
Nbea	T	A	3: 55,989,869 (GRCm39)	N329I	probably damaging	Het
Ndufb11	T	A	X: 20,483,339 (GRCm39)	Q54L	possibly damaging	Het
Nudt1	T	C	5: 140,323,465 (GRCm39)	F139S	probably damaging	Het
Rgn	A	T	X: 20,423,756 (GRCm39)	M118L	probably benign	Het
Syt12	C	T	19: 4,497,873 (GRCm39)	V370M	probably damaging	Het
Syt14	A	T	1: 192,612,792 (GRCm39)	N669K	possibly damaging	Het

Other mutations in Farp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Farp1	APN	14	121,510,186 (GRCm39)	missense	possibly damaging	0.64
IGL02309:Farp1	APN	14	121,480,928 (GRCm39)	missense	probably benign
IGL02376:Farp1	APN	14	121,510,268 (GRCm39)	missense	probably damaging	0.98
IGL03018:Farp1	APN	14	121,339,581 (GRCm39)	missense	probably benign
IGL03400:Farp1	APN	14	121,444,733 (GRCm39)	missense	probably damaging	1.00
R0034:Farp1	UTSW	14	121,492,841 (GRCm39)	missense	probably benign	0.00
R0046:Farp1	UTSW	14	121,492,925 (GRCm39)	missense	probably benign	0.00
R0046:Farp1	UTSW	14	121,492,925 (GRCm39)	missense	probably benign	0.00
R0219:Farp1	UTSW	14	121,481,012 (GRCm39)	missense	possibly damaging	0.88
R0359:Farp1	UTSW	14	121,492,808 (GRCm39)	splice site	probably benign
R0616:Farp1	UTSW	14	121,514,434 (GRCm39)	missense	probably damaging	1.00
R0653:Farp1	UTSW	14	121,471,258 (GRCm39)	critical splice donor site	probably null
R0710:Farp1	UTSW	14	121,474,555 (GRCm39)	missense	probably damaging	1.00
R1391:Farp1	UTSW	14	121,495,378 (GRCm39)	nonsense	probably null
R1791:Farp1	UTSW	14	121,494,157 (GRCm39)	missense	probably damaging	1.00
R1920:Farp1	UTSW	14	121,492,908 (GRCm39)	missense	probably benign	0.16
R1953:Farp1	UTSW	14	121,492,894 (GRCm39)	missense	probably benign
R1958:Farp1	UTSW	14	121,456,787 (GRCm39)	critical splice acceptor site	probably null
R2891:Farp1	UTSW	14	121,494,148 (GRCm39)	missense	probably damaging	1.00
R3121:Farp1	UTSW	14	121,460,138 (GRCm39)	splice site	probably benign
R4005:Farp1	UTSW	14	121,513,809 (GRCm39)	missense	probably damaging	0.99
R4257:Farp1	UTSW	14	121,492,891 (GRCm39)	missense	probably benign	0.00
R4559:Farp1	UTSW	14	121,510,213 (GRCm39)	missense	probably damaging	1.00
R4654:Farp1	UTSW	14	121,513,716 (GRCm39)	missense	possibly damaging	0.50
R4739:Farp1	UTSW	14	121,476,199 (GRCm39)	missense	probably damaging	1.00
R4831:Farp1	UTSW	14	121,514,469 (GRCm39)	missense	probably damaging	1.00
R4988:Farp1	UTSW	14	121,513,019 (GRCm39)	missense	probably damaging	1.00
R5379:Farp1	UTSW	14	121,494,169 (GRCm39)	missense	possibly damaging	0.88
R5463:Farp1	UTSW	14	121,472,489 (GRCm39)	missense	probably damaging	1.00
R5466:Farp1	UTSW	14	121,472,489 (GRCm39)	missense	probably damaging	1.00
R5467:Farp1	UTSW	14	121,472,489 (GRCm39)	missense	probably damaging	1.00
R5511:Farp1	UTSW	14	121,474,584 (GRCm39)	missense	probably damaging	0.98
R5520:Farp1	UTSW	14	121,472,489 (GRCm39)	missense	probably damaging	1.00
R5635:Farp1	UTSW	14	121,513,716 (GRCm39)	missense	possibly damaging	0.96
R5639:Farp1	UTSW	14	121,512,794 (GRCm39)	missense	probably damaging	1.00
R5954:Farp1	UTSW	14	121,460,079 (GRCm39)	missense	probably damaging	0.99
R6765:Farp1	UTSW	14	121,460,066 (GRCm39)	missense	probably benign	0.00
R7469:Farp1	UTSW	14	121,512,833 (GRCm39)	missense	probably damaging	1.00
R7549:Farp1	UTSW	14	121,472,589 (GRCm39)	missense	possibly damaging	0.89
R7660:Farp1	UTSW	14	121,514,334 (GRCm39)	missense	probably benign	0.00
R7752:Farp1	UTSW	14	121,495,359 (GRCm39)	missense	probably damaging	1.00
R7788:Farp1	UTSW	14	121,513,665 (GRCm39)	missense	probably benign	0.12
R7911:Farp1	UTSW	14	121,479,818 (GRCm39)	missense	probably damaging	1.00
R8013:Farp1	UTSW	14	121,479,813 (GRCm39)	missense	probably damaging	1.00
R8078:Farp1	UTSW	14	121,513,712 (GRCm39)	missense	probably benign	0.04
R8113:Farp1	UTSW	14	121,513,008 (GRCm39)	missense	probably benign	0.35
R8116:Farp1	UTSW	14	121,471,232 (GRCm39)	missense	probably damaging	1.00
R8716:Farp1	UTSW	14	121,479,855 (GRCm39)	missense	probably benign
R9103:Farp1	UTSW	14	121,509,104 (GRCm39)	missense	possibly damaging	0.55
R9190:Farp1	UTSW	14	121,492,988 (GRCm39)	missense	probably damaging	0.97
R9193:Farp1	UTSW	14	121,518,281 (GRCm39)	missense	probably benign	0.34
R9581:Farp1	UTSW	14	121,480,841 (GRCm39)	missense	probably benign	0.09
RF024:Farp1	UTSW	14	121,474,560 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06