Mutagenetix > Incidental Mutation

Incidental Mutation 'R4423:Arhgef9'

327240

Institutional Source

Beutler Lab

Gene Symbol

Arhgef9

Ensembl Gene

ENSMUSG00000025656

Gene Name

CDC42 guanine nucleotide exchange factor 9

Synonyms

collybistin, 9630036L12Rik

MMRRC Submission

041143-MU

Accession Numbers

Essential gene?

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

Stock #

R4423 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

94092541-94240462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 94144670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 131 (I131L)

Ref Sequence

ENSEMBL: ENSMUSP00000142905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113873] [ENSMUST00000113876] [ENSMUST00000113878] [ENSMUST00000113882] [ENSMUST00000113883] [ENSMUST00000113884] [ENSMUST00000113885] [ENSMUST00000182562] [ENSMUST00000128565] [ENSMUST00000197206] [ENSMUST00000197364] [ENSMUST00000198753] [ENSMUST00000200628] [ENSMUST00000199920] [ENSMUST00000181987] [ENSMUST00000182001]

AlphaFold

Q3UTH8

Predicted Effect

probably benign
Transcript: ENSMUST00000113873
AA Change: I50L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109505
Gene: ENSMUSG00000025656
AA Change: I50L

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: I131L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109508
Gene: ENSMUSG00000025656
AA Change: I131L

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: I152L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109510
Gene: ENSMUSG00000025656
AA Change: I152L

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: I152L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109514
Gene: ENSMUSG00000025656
AA Change: I152L

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: I152L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109515
Gene: ENSMUSG00000025656
AA Change: I152L

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: I159L

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109516
Gene: ENSMUSG00000025656
AA Change: I159L

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: I152L

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109517
Gene: ENSMUSG00000025656
AA Change: I152L

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: ENSMUST00000182562
AA Change: I50L

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138147
Gene: ENSMUSG00000025656
AA Change: I50L

Domain	Start	End	E-Value	Type
Pfam:RhoGEF	5	54	6.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128565
AA Change: I99L

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138258
Gene: ENSMUSG00000025656
AA Change: I99L

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: ENSMUST00000197206
AA Change: I99L

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142769
Gene: ENSMUSG00000025656
AA Change: I99L

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: I159L

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142615
Gene: ENSMUSG00000025656
AA Change: I159L

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: I92L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142911
Gene: ENSMUSG00000025656
AA Change: I92L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200628
AA Change: I131L

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142905
Gene: ENSMUSG00000025656
AA Change: I131L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199920
AA Change: I131L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143779
Gene: ENSMUSG00000025656
AA Change: I131L

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: I159L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000138461
Gene: ENSMUSG00000025656
AA Change: I159L

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: I131L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138668
Gene: ENSMUSG00000025656
AA Change: I131L

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

Meta Mutation Damage Score

0.6685

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (57/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	A	10: 100,441,495 (GRCm39)	P100Q	probably damaging	Het
A630010A05Rik	A	G	16: 14,436,577 (GRCm39)	Y210C	probably benign	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Asgr2	G	A	11: 69,996,211 (GRCm39)	V218I	probably benign	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Cfap144	A	T	11: 58,687,357 (GRCm39)		probably null	Het
Cnot10	T	A	9: 114,446,988 (GRCm39)	I363F	probably damaging	Het
Coch	T	A	12: 51,644,932 (GRCm39)		probably null	Het
Dnah1	C	T	14: 31,006,718 (GRCm39)	G2199D	probably benign	Het
Dock9	A	G	14: 121,799,465 (GRCm39)		probably null	Het
Dst	T	C	1: 34,227,474 (GRCm39)	I1689T	possibly damaging	Het
Eif2ak4	T	C	2: 118,269,547 (GRCm39)	F762S	probably benign	Het
Eif2b5	A	G	16: 20,320,469 (GRCm39)	D195G	probably benign	Het
Elmo1	C	G	13: 20,784,382 (GRCm39)	Y646*	probably null	Het
Far1	T	A	7: 113,139,805 (GRCm39)	S84R	probably damaging	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Galnt15	A	T	14: 31,780,226 (GRCm39)	I508F	possibly damaging	Het
Grik1	T	C	16: 87,720,088 (GRCm39)	T745A	probably benign	Het
Hira	A	G	16: 18,774,952 (GRCm39)	D959G	possibly damaging	Het
Hsf5	T	C	11: 87,522,460 (GRCm39)	L351P	probably damaging	Het
Icosl	C	T	10: 77,907,707 (GRCm39)	T89I	possibly damaging	Het
Iws1	T	A	18: 32,216,503 (GRCm39)	N414K	probably damaging	Het
Kif1b	A	G	4: 149,298,562 (GRCm39)	S1035P	probably damaging	Het
Lcp2	G	T	11: 34,028,226 (GRCm39)		probably benign	Het
Map4	C	T	9: 109,896,662 (GRCm39)	T631I	probably damaging	Het
Nepn	T	A	10: 52,267,911 (GRCm39)	I59N	probably damaging	Het
Nin	T	A	12: 70,089,752 (GRCm39)	K1221M	probably damaging	Het
Nup155	A	G	15: 8,150,948 (GRCm39)	T333A	probably damaging	Het
Or10d4c	A	G	9: 39,558,412 (GRCm39)	Y130C	probably damaging	Het
Or52h9	T	C	7: 104,202,552 (GRCm39)	V142A	probably benign	Het
Or8b43	A	G	9: 38,360,662 (GRCm39)	T165A	probably benign	Het
Plod2	T	C	9: 92,484,042 (GRCm39)	L502S	probably benign	Het
Pnpt1	A	G	11: 29,103,375 (GRCm39)		probably null	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Prkcq	T	C	2: 11,260,980 (GRCm39)	I344T	possibly damaging	Het
Rbl1	A	G	2: 157,010,875 (GRCm39)		probably benign	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sec62	T	C	3: 30,868,431 (GRCm39)	M220T	unknown	Het
Shprh	T	G	10: 11,062,262 (GRCm39)	V1219G	possibly damaging	Het
Slc25a46	T	C	18: 31,742,651 (GRCm39)	T72A	probably benign	Het
Slc4a2	G	A	5: 24,644,846 (GRCm39)	W1040*	probably null	Het
Slc5a1	T	C	5: 33,312,018 (GRCm39)	V470A	possibly damaging	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tex47	G	T	5: 7,355,364 (GRCm39)	A182S	probably benign	Het
Top2a	A	G	11: 98,892,231 (GRCm39)	I1077T	probably benign	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Trpm2	T	C	10: 77,770,902 (GRCm39)	D678G	probably benign	Het
Tut7	T	C	13: 59,969,863 (GRCm39)	K11E	probably damaging	Het
Ube3a	T	C	7: 58,925,861 (GRCm39)	I234T	probably benign	Het
Vmn2r57	T	C	7: 41,076,064 (GRCm39)	K483E	probably damaging	Het
Wnk1	T	A	6: 119,903,387 (GRCm39)	S2111C	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
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
X0027:Arhgef9	UTSW	X	94,098,605 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCACACACTCTTCCATGG -3'
(R):5'- TCCCCTTATGAAAACTGAAAATGGG -3'

Sequencing Primer
(F):5'- ACACACTCTTCCATGGTTTCCTAGTG -3'
(R):5'- TCATGTGGGTCCTGAACAAC -3'

Posted On

2015-07-07