Mutagenetix > Incidental Mutation

Incidental Mutation 'R1820:Arhgef9'

204827

Institutional Source

Beutler Lab

Gene Symbol

Arhgef9

Ensembl Gene

ENSMUSG00000025656

Gene Name

CDC42 guanine nucleotide exchange factor 9

Synonyms

collybistin, 9630036L12Rik

MMRRC Submission

039848-MU

Accession Numbers

Essential gene?

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

Stock #

R1820 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

94092541-94240462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94125142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 225 (I225F)

Ref Sequence

ENSEMBL: ENSMUSP00000143779 (fasta)

Gene Model

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

AlphaFold

Q3UTH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000113873
AA Change: I144F

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

SMART Domains

Protein: ENSMUSP00000109505
Gene: ENSMUSG00000025656
AA Change: I144F

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: I225F

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

SMART Domains

Protein: ENSMUSP00000109508
Gene: ENSMUSG00000025656
AA Change: I225F

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: I246F

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

SMART Domains

Protein: ENSMUSP00000109510
Gene: ENSMUSG00000025656
AA Change: I246F

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: I246F

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

SMART Domains

Protein: ENSMUSP00000109514
Gene: ENSMUSG00000025656
AA Change: I246F

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: I246F

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

SMART Domains

Protein: ENSMUSP00000109515
Gene: ENSMUSG00000025656
AA Change: I246F

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: I253F

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

SMART Domains

Protein: ENSMUSP00000109516
Gene: ENSMUSG00000025656
AA Change: I253F

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: I246F

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

SMART Domains

Protein: ENSMUSP00000109517
Gene: ENSMUSG00000025656
AA Change: I246F

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: ENSMUST00000198753
AA Change: I186F

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

SMART Domains

Protein: ENSMUSP00000142911
Gene: ENSMUSG00000025656
AA Change: I186F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000196354
AA Change: I32F

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

SMART Domains

Protein: ENSMUSP00000143086
Gene: ENSMUSG00000025656
AA Change: I32F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000128565
AA Change: I193F

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

SMART Domains

Protein: ENSMUSP00000138258
Gene: ENSMUSG00000025656
AA Change: I193F

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: ENSMUST00000197206
AA Change: I193F

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

SMART Domains

Protein: ENSMUSP00000142769
Gene: ENSMUSG00000025656
AA Change: I193F

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: ENSMUST00000197364
AA Change: I253F

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

SMART Domains

Protein: ENSMUSP00000142615
Gene: ENSMUSG00000025656
AA Change: I253F

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: ENSMUST00000181987
AA Change: I253F

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

SMART Domains

Protein: ENSMUSP00000138461
Gene: ENSMUSG00000025656
AA Change: I253F

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: ENSMUST00000182001
AA Change: I225F

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

SMART Domains

Protein: ENSMUSP00000138668
Gene: ENSMUSG00000025656
AA Change: I225F

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: ENSMUST00000199920
AA Change: I225F

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

SMART Domains

Protein: ENSMUSP00000143779
Gene: ENSMUSG00000025656
AA Change: I225F

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: ENSMUST00000200628

SMART Domains

Protein: ENSMUSP00000142905
Gene: ENSMUSG00000025656

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,197,018 (GRCm39)	V197A	possibly damaging	Het
9230109A22Rik	T	C	15: 25,139,176 (GRCm39)		noncoding transcript	Het
Acbd3	A	G	1: 180,572,703 (GRCm39)	N321S	probably benign	Het
Actr3b	T	C	5: 26,054,156 (GRCm39)		probably null	Het
Aldh5a1	T	C	13: 25,111,555 (GRCm39)	D124G	probably benign	Het
Arhgap35	G	A	7: 16,295,874 (GRCm39)	R1064W	possibly damaging	Het
Arl16	T	C	11: 120,357,587 (GRCm39)	T43A	probably damaging	Het
Camsap3	T	C	8: 3,653,485 (GRCm39)	W409R	probably damaging	Het
Cfap43	T	A	19: 47,885,655 (GRCm39)	H320L	probably damaging	Het
Chac2	T	A	11: 30,927,496 (GRCm39)	N141I	probably damaging	Het
Chtf18	C	A	17: 25,944,913 (GRCm39)	G211C	probably damaging	Het
Cplane1	A	G	15: 8,299,129 (GRCm39)	K3106E	unknown	Het
Cwf19l1	T	A	19: 44,115,826 (GRCm39)	Y201F	probably benign	Het
Dcun1d1	A	T	3: 35,973,153 (GRCm39)	L114*	probably null	Het
Fdps	A	T	3: 89,002,350 (GRCm39)	H249Q	probably benign	Het
Fhip1a	T	A	3: 85,573,136 (GRCm39)	T938S	probably damaging	Het
Gabrg1	T	A	5: 70,931,756 (GRCm39)	Y329F	probably damaging	Het
Kctd8	T	A	5: 69,497,684 (GRCm39)	I321F	probably damaging	Het
Kdm5b	G	T	1: 134,525,408 (GRCm39)	R299L	possibly damaging	Het
Kif23	T	C	9: 61,833,720 (GRCm39)	T494A	possibly damaging	Het
Kmt2e	A	G	5: 23,678,545 (GRCm39)	H208R	probably damaging	Het
Lipo5	A	T	19: 33,441,995 (GRCm39)		probably null	Het
Lrrc28	G	T	7: 67,290,859 (GRCm39)	T54K	probably damaging	Het
Luc7l2	G	A	6: 38,575,754 (GRCm39)		probably null	Het
Man2a2	A	G	7: 80,008,681 (GRCm39)	F899L	probably benign	Het
Myo9b	T	C	8: 71,786,002 (GRCm39)	I633T	probably damaging	Het
Nynrin	A	T	14: 56,107,835 (GRCm39)	I981F	possibly damaging	Het
Or5an1c	A	T	19: 12,218,612 (GRCm39)	S138T	probably damaging	Het
Or8g28	A	G	9: 39,169,695 (GRCm39)	I91T	possibly damaging	Het
Pank1	A	G	19: 34,855,084 (GRCm39)		probably null	Het
Phc2	C	T	4: 128,637,336 (GRCm39)	A47V	probably damaging	Het
Plekhs1	A	G	19: 56,466,954 (GRCm39)	R262G	possibly damaging	Het
Pnp2	C	A	14: 51,201,914 (GRCm39)	P300Q	possibly damaging	Het
Polq	T	A	16: 36,849,780 (GRCm39)	S345T	possibly damaging	Het
Prag1	A	G	8: 36,570,958 (GRCm39)	T514A	probably benign	Het
Psmd5	T	C	2: 34,760,758 (GRCm39)		probably null	Het
Rfx6	T	G	10: 51,599,221 (GRCm39)		probably null	Het
Rhbdd2	G	A	5: 135,664,903 (GRCm39)	C78Y	probably damaging	Het
Rnf157	G	T	11: 116,245,477 (GRCm39)	P313T	probably damaging	Het
Ryr2	A	G	13: 11,602,202 (GRCm39)	L4560P	probably damaging	Het
Scai	A	T	2: 38,996,990 (GRCm39)	M268K	possibly damaging	Het
Scd3	A	T	19: 44,230,245 (GRCm39)	T343S	probably benign	Het
Scimp	A	T	11: 70,682,423 (GRCm39)	S98T	probably benign	Het
Sfrp2	A	G	3: 83,680,461 (GRCm39)	N207S	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Sp1	T	A	15: 102,317,511 (GRCm39)	S343R	possibly damaging	Het
Spata31d1a	A	T	13: 59,849,069 (GRCm39)	C1020S	possibly damaging	Het
Spink5	A	G	18: 44,122,486 (GRCm39)	N317S	possibly damaging	Het
Sptbn2	A	G	19: 4,776,624 (GRCm39)	D224G	probably damaging	Het
St8sia3	T	C	18: 64,402,703 (GRCm39)	I114T	probably damaging	Het
Zscan5b	C	A	7: 6,242,162 (GRCm39)	H460Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGTGTACAGAGTAGCTCACAAC -3'
(R):5'- AGCAAGATGGATTCTGGATATACTCTG -3'

Sequencing Primer
(F):5'- AAGCAACTCTCTAGGGCTTG -3'
(R):5'- CTCTGAATATTGTAACAACCACCTGG -3'

Posted On

2014-06-23