Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00264:Arhgef9'

3109

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?

Possibly non essential (E-score: 0.266) question?

Stock #

IGL00264

Quality Score

Status

Chromosome

Chromosomal Location

94092541-94240462 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 94125237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143086 (fasta)

Gene Model

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

AlphaFold

Q3UTH8

Predicted Effect

probably benign
Transcript: ENSMUST00000113873
AA Change: D112G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109505
Gene: ENSMUSG00000025656
AA Change: D112G

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 benign
Transcript: ENSMUST00000113876
AA Change: D193G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109508
Gene: ENSMUSG00000025656
AA Change: D193G

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: ENSMUST00000113878
AA Change: D214G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109510
Gene: ENSMUSG00000025656
AA Change: D214G

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 benign
Transcript: ENSMUST00000113882
AA Change: D214G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109514
Gene: ENSMUSG00000025656
AA Change: D214G

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 benign
Transcript: ENSMUST00000113883
AA Change: D214G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109515
Gene: ENSMUSG00000025656
AA Change: D214G

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 benign
Transcript: ENSMUST00000113884
AA Change: D221G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000109516
Gene: ENSMUSG00000025656
AA Change: D221G

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 benign
Transcript: ENSMUST00000113885
AA Change: D214G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109517
Gene: ENSMUSG00000025656
AA Change: D214G

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 benign
Transcript: ENSMUST00000128565
AA Change: D161G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138258
Gene: ENSMUSG00000025656
AA Change: D161G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200628
AA Change: D193G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000142905
Gene: ENSMUSG00000025656
AA Change: D193G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197206
AA Change: D161G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142769
Gene: ENSMUSG00000025656
AA Change: D161G

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 benign
Transcript: ENSMUST00000197364
AA Change: D221G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142615
Gene: ENSMUSG00000025656
AA Change: D221G

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 benign
Transcript: ENSMUST00000198753
AA Change: D154G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142911
Gene: ENSMUSG00000025656
AA Change: D154G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199920
AA Change: D193G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143779
Gene: ENSMUSG00000025656
AA Change: D193G

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: ENSMUST00000181987
AA Change: D221G

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138461
Gene: ENSMUSG00000025656
AA Change: D221G

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 benign
Transcript: ENSMUST00000182001
AA Change: D193G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138668
Gene: ENSMUSG00000025656
AA Change: D193G

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 null
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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	T	G	1: 125,324,966 (GRCm39)	I319L	probably benign	Het
Akap7	C	T	10: 25,047,138 (GRCm39)	D20N	probably benign	Het
Ambra1	T	A	2: 91,741,934 (GRCm39)	S1070T	probably benign	Het
Ascc3	T	G	10: 50,590,531 (GRCm39)	V1083G	probably damaging	Het
Asns	T	A	6: 7,680,179 (GRCm39)	E312D	probably damaging	Het
Bpifc	A	C	10: 85,796,392 (GRCm39)	V472G	possibly damaging	Het
Ccdc71	T	A	9: 108,340,237 (GRCm39)	S17T	probably damaging	Het
Cebpzos	T	C	17: 79,225,777 (GRCm39)		probably benign	Het
Cfi	T	C	3: 129,666,744 (GRCm39)	I489T	probably damaging	Het
Chrm2	T	A	6: 36,500,326 (GRCm39)	F61Y	probably damaging	Het
Cpxm1	T	C	2: 130,237,863 (GRCm39)	Y149C	probably damaging	Het
Dnah6	A	G	6: 73,172,720 (GRCm39)	I246T	probably benign	Het
Ereg	C	A	5: 91,222,638 (GRCm39)	S7Y	probably benign	Het
Ghsr	T	A	3: 27,429,022 (GRCm39)	L349Q	possibly damaging	Het
Gm10754	A	G	10: 97,518,274 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,864,475 (GRCm38)	L29H	probably benign	Het
Hexim2	A	G	11: 103,029,281 (GRCm39)	E111G	probably damaging	Het
Itga1	A	T	13: 115,128,899 (GRCm39)	N586K	possibly damaging	Het
Kat6b	A	G	14: 21,718,627 (GRCm39)	D1102G	probably benign	Het
Kif27	A	T	13: 58,485,418 (GRCm39)	M514K	probably benign	Het
Matn2	T	C	15: 34,428,616 (GRCm39)	I660T	probably damaging	Het
Mki67	C	A	7: 135,309,549 (GRCm39)	G301*	probably null	Het
Or13a25	T	A	7: 140,247,854 (GRCm39)	I211N	probably benign	Het
Or1l4b	T	C	2: 37,037,079 (GRCm39)	F285S	probably damaging	Het
Or5b121	A	C	19: 13,507,214 (GRCm39)	Y103S	probably damaging	Het
Or5b99	A	G	19: 12,976,683 (GRCm39)	Y111C	probably damaging	Het
Pcdhb8	A	T	18: 37,488,526 (GRCm39)	H68L	probably benign	Het
Pkhd1l1	T	C	15: 44,354,425 (GRCm39)	V272A	possibly damaging	Het
Pstpip2	T	C	18: 77,959,259 (GRCm39)		probably benign	Het
Rdh14	G	T	12: 10,441,134 (GRCm39)	G99W	probably damaging	Het
Rmc1	T	C	18: 12,312,276 (GRCm39)	V172A	probably benign	Het
Sra1	A	T	18: 36,801,792 (GRCm39)	S99R	probably benign	Het
Tbrg1	G	T	9: 37,562,337 (GRCm39)	N280K	probably benign	Het
Ugt8a	A	G	3: 125,708,285 (GRCm39)		probably null	Het
Usp40	A	T	1: 87,931,960 (GRCm39)		probably benign	Het
Vmn1r45	T	A	6: 89,910,646 (GRCm39)	Y108F	probably damaging	Het
Zfp521	A	G	18: 13,979,559 (GRCm39)	Y285H	probably benign	Het

Other mutations in Arhgef9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Arhgef9	APN	X	94,125,285 (GRCm39)	missense	probably damaging	1.00
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

2012-04-20