Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00690:Arhgef9'

9040

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef9

Ensembl Gene

ENSMUSG00000025656

Gene Name

CDC42 guanine nucleotide exchange factor 9

Synonyms

collybistin, 9630036L12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

IGL00690

Quality Score

Status

Chromosome

Chromosomal Location

94092541-94240462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94125285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 177 (C177Y)

Ref Sequence

ENSEMBL: ENSMUSP00000142905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113873] [ENSMUST00000113876] [ENSMUST00000113878] [ENSMUST00000113882] [ENSMUST00000113883] [ENSMUST00000113884] [ENSMUST00000113885] [ENSMUST00000128565] [ENSMUST00000181987] [ENSMUST00000197206] [ENSMUST00000200628] [ENSMUST00000197364] [ENSMUST00000198753] [ENSMUST00000199920] [ENSMUST00000182001] [ENSMUST00000196354]

AlphaFold

Q3UTH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000113873
AA Change: C96Y

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

SMART Domains

Protein: ENSMUSP00000109505
Gene: ENSMUSG00000025656
AA Change: C96Y

Domain	Start	End	E-Value	Type
RhoGEF	5	184	1.63e-63	SMART
PH	217	325	5.41e-10	SMART
low complexity region	363	372	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113876
AA Change: C177Y

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

SMART Domains

Protein: ENSMUSP00000109508
Gene: ENSMUSG00000025656
AA Change: C177Y

Domain	Start	End	E-Value	Type
SH3	1	45	6.5e-7	SMART
RhoGEF	86	265	1.63e-63	SMART
PH	298	406	5.41e-10	SMART
low complexity region	444	453	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113878
AA Change: C198Y

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

SMART Domains

Protein: ENSMUSP00000109510
Gene: ENSMUSG00000025656
AA Change: C198Y

Domain	Start	End	E-Value	Type
SH3	11	66	2.11e-15	SMART
RhoGEF	107	286	1.63e-63	SMART
PH	319	427	5.41e-10	SMART
low complexity region	465	474	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113882
AA Change: C198Y

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

SMART Domains

Protein: ENSMUSP00000109514
Gene: ENSMUSG00000025656
AA Change: C198Y

Domain	Start	End	E-Value	Type
SH3	11	66	2.11e-15	SMART
RhoGEF	107	286	1.63e-63	SMART
PH	319	427	5.41e-10	SMART
low complexity region	465	474	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113883
AA Change: C198Y

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

SMART Domains

Protein: ENSMUSP00000109515
Gene: ENSMUSG00000025656
AA Change: C198Y

Domain	Start	End	E-Value	Type
SH3	11	66	2.11e-15	SMART
RhoGEF	107	286	1.63e-63	SMART
PH	319	427	5.41e-10	SMART
low complexity region	465	474	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113884
AA Change: C205Y

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

SMART Domains

Protein: ENSMUSP00000109516
Gene: ENSMUSG00000025656
AA Change: C205Y

Domain	Start	End	E-Value	Type
SH3	18	73	2.11e-15	SMART
RhoGEF	114	293	1.63e-63	SMART
PH	326	434	5.41e-10	SMART
low complexity region	509	518	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113885
AA Change: C198Y

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

SMART Domains

Protein: ENSMUSP00000109517
Gene: ENSMUSG00000025656
AA Change: C198Y

Domain	Start	End	E-Value	Type
SH3	11	66	2.11e-15	SMART
RhoGEF	107	286	1.63e-63	SMART
PH	319	427	5.41e-10	SMART
low complexity region	465	474	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000128565
AA Change: C145Y

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

SMART Domains

Protein: ENSMUSP00000138258
Gene: ENSMUSG00000025656
AA Change: C145Y

Domain	Start	End	E-Value	Type
RhoGEF	54	233	1.63e-63	SMART
PH	266	374	5.41e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000181987
AA Change: C205Y

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

SMART Domains

Protein: ENSMUSP00000138461
Gene: ENSMUSG00000025656
AA Change: C205Y

Domain	Start	End	E-Value	Type
SH3	18	73	2.11e-15	SMART
RhoGEF	114	293	1.63e-63	SMART
PH	326	434	5.41e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000197206
AA Change: C145Y

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

SMART Domains

Protein: ENSMUSP00000142769
Gene: ENSMUSG00000025656
AA Change: C145Y

Domain	Start	End	E-Value	Type
RhoGEF	54	233	1e-65	SMART
PH	266	374	2.4e-12	SMART
low complexity region	412	421	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000200628
AA Change: C177Y

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

SMART Domains

Protein: ENSMUSP00000142905
Gene: ENSMUSG00000025656
AA Change: C177Y

Domain	Start	End	E-Value	Type
SH3	1	45	4e-9	SMART
RhoGEF	86	220	4.2e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000197364
AA Change: C205Y

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

SMART Domains

Protein: ENSMUSP00000142615
Gene: ENSMUSG00000025656
AA Change: C205Y

Domain	Start	End	E-Value	Type
SH3	18	73	1.3e-17	SMART
RhoGEF	114	293	1e-65	SMART
PH	326	434	2.4e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000198753
AA Change: C138Y

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

SMART Domains

Protein: ENSMUSP00000142911
Gene: ENSMUSG00000025656
AA Change: C138Y

Domain	Start	End	E-Value	Type
RhoGEF	47	226	1e-65	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000199920
AA Change: C177Y

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

SMART Domains

Protein: ENSMUSP00000143779
Gene: ENSMUSG00000025656
AA Change: C177Y

Domain	Start	End	E-Value	Type
SH3	1	45	6.5e-7	SMART
RhoGEF	86	265	1.63e-63	SMART
PH	298	406	5.41e-10	SMART
low complexity region	444	453	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182001
AA Change: C177Y

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

SMART Domains

Protein: ENSMUSP00000138668
Gene: ENSMUSG00000025656
AA Change: C177Y

Domain	Start	End	E-Value	Type
SH3	1	45	6.5e-7	SMART
RhoGEF	86	265	1.63e-63	SMART
PH	298	406	5.41e-10	SMART
low complexity region	444	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196354

SMART Domains

Protein: ENSMUSP00000143086
Gene: ENSMUSG00000025656

Domain	Start	End	E-Value	Type
Pfam:RhoGEF	1	72	1.6e-15	PFAM
Blast:PH	90	169	5e-46	BLAST
low complexity region	207	216	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
PHENOTYPE: Male mice hemizygous for a null allele exhibit impaired spatial learning, increased anxiety-associated behaviors, and altered central nervous system synaptic transmission. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,078,336 (GRCm39)		probably benign	Het
Adcy8	A	G	15: 64,571,151 (GRCm39)	V1164A	probably damaging	Het
Ascc3	C	T	10: 50,576,039 (GRCm39)	Q765*	probably null	Het
Brwd1	A	G	16: 95,818,786 (GRCm39)	Y1349H	probably damaging	Het
Cep57	A	T	9: 13,730,312 (GRCm39)	N48K	probably damaging	Het
Crlf3	A	G	11: 79,950,163 (GRCm39)	S156P	probably damaging	Het
Edn2	G	A	4: 120,020,649 (GRCm39)	R92H	probably damaging	Het
Eml2	T	A	7: 18,940,068 (GRCm39)	W647R	probably damaging	Het
Gcm1	A	T	9: 77,972,298 (GRCm39)	D413V	probably benign	Het
Med1	A	C	11: 98,060,226 (GRCm39)	D234E	possibly damaging	Het
Nfatc4	T	C	14: 56,070,019 (GRCm39)	F729S	probably damaging	Het
Pcbd1	T	C	10: 60,928,469 (GRCm39)		probably benign	Het
Pramel28	G	T	4: 143,692,392 (GRCm39)	P203Q	possibly damaging	Het
Serpina3c	A	T	12: 104,118,198 (GRCm39)	L47M	possibly damaging	Het
Strn3	T	C	12: 51,657,221 (GRCm39)	I631V	possibly damaging	Het
Trp53bp1	A	G	2: 121,066,476 (GRCm39)	I750T	probably damaging	Het

Other mutations in Arhgef9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Arhgef9	APN	X	94,125,237 (GRCm39)	splice site	probably null
IGL02536:Arhgef9	APN	X	94,102,443 (GRCm39)	missense	probably damaging	1.00
IGL02863:Arhgef9	APN	X	94,121,110 (GRCm39)	missense	probably damaging	1.00
R1820:Arhgef9	UTSW	X	94,125,142 (GRCm39)	missense	probably damaging	1.00
R4422:Arhgef9	UTSW	X	94,144,670 (GRCm39)	missense	possibly damaging	0.62
R4423:Arhgef9	UTSW	X	94,144,670 (GRCm39)	missense	possibly damaging	0.62
X0027:Arhgef9	UTSW	X	94,098,605 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06