Incidental Mutation 'IGL00264:Arhgef9'
ID3109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef9
Ensembl Gene ENSMUSG00000025656
Gene NameCDC42 guanine nucleotide exchange factor (GEF) 9
Synonyms9630036L12Rik, collybistin
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.257) question?
Stock #IGL00264
Quality Score
Status
ChromosomeX
Chromosomal Location95048935-95196856 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 95081631 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113873] [ENSMUST00000113876] [ENSMUST00000113878] [ENSMUST00000113882] [ENSMUST00000113883] [ENSMUST00000113884] [ENSMUST00000113885] [ENSMUST00000128565] [ENSMUST00000181987] [ENSMUST00000182001] [ENSMUST00000196354] [ENSMUST00000197206] [ENSMUST00000197364] [ENSMUST00000198753] [ENSMUST00000199920] [ENSMUST00000200628]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
RhoGEF 54 233 1.63e-63 SMART
PH 266 374 5.41e-10 SMART
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
AA Change: D193G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000142905
Gene: ENSMUSG00000025656
AA Change: D193G

DomainStartEndE-ValueType
SH3 1 45 4e-9 SMART
RhoGEF 86 220 4.2e-20 SMART
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik T C 18: 12,179,219 V172A probably benign Het
Actr3 T G 1: 125,397,229 I319L probably benign Het
Akap7 C T 10: 25,171,240 D20N probably benign Het
Ambra1 T A 2: 91,911,589 S1070T probably benign Het
Ascc3 T G 10: 50,714,435 V1083G probably damaging Het
Asns T A 6: 7,680,179 E312D probably damaging Het
Bpifc A C 10: 85,960,528 V472G possibly damaging Het
Ccdc71 T A 9: 108,463,038 S17T probably damaging Het
Cebpzos T C 17: 78,918,348 probably benign Het
Cfi T C 3: 129,873,095 I489T probably damaging Het
Chrm2 T A 6: 36,523,391 F61Y probably damaging Het
Cpxm1 T C 2: 130,395,943 Y149C probably damaging Het
Dnah6 A G 6: 73,195,737 I246T probably benign Het
Ereg C A 5: 91,074,779 S7Y probably benign Het
Ghsr T A 3: 27,374,873 L349Q possibly damaging Het
Gm10754 A G 10: 97,682,412 probably benign Het
Gm8237 A T 14: 5,864,475 L29H probably benign Het
Hexim2 A G 11: 103,138,455 E111G probably damaging Het
Itga1 A T 13: 114,992,363 N586K possibly damaging Het
Kat6b A G 14: 21,668,559 D1102G probably benign Het
Kif27 A T 13: 58,337,604 M514K probably benign Het
Matn2 T C 15: 34,428,470 I660T probably damaging Het
Mki67 C A 7: 135,707,820 G301* probably null Het
Olfr1451 A G 19: 12,999,319 Y111C probably damaging Het
Olfr1480 A C 19: 13,529,850 Y103S probably damaging Het
Olfr364-ps1 T C 2: 37,147,067 F285S probably damaging Het
Olfr539 T A 7: 140,667,941 I211N probably benign Het
Pcdhb8 A T 18: 37,355,473 H68L probably benign Het
Pkhd1l1 T C 15: 44,491,029 V272A possibly damaging Het
Pstpip2 T C 18: 77,871,559 probably benign Het
Rdh14 G T 12: 10,391,134 G99W probably damaging Het
Sra1 A T 18: 36,668,739 S99R probably benign Het
Tbrg1 G T 9: 37,651,041 N280K probably benign Het
Ugt8a A G 3: 125,914,636 probably null Het
Usp40 A T 1: 88,004,238 probably benign Het
Vmn1r45 T A 6: 89,933,664 Y108F probably damaging Het
Zfp521 A G 18: 13,846,502 Y285H probably benign Het
Other mutations in Arhgef9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Arhgef9 APN X 95081679 missense probably damaging 1.00
IGL02536:Arhgef9 APN X 95058837 missense probably damaging 1.00
IGL02863:Arhgef9 APN X 95077504 missense probably damaging 1.00
R1820:Arhgef9 UTSW X 95081536 missense probably damaging 1.00
R4422:Arhgef9 UTSW X 95101064 missense possibly damaging 0.62
R4423:Arhgef9 UTSW X 95101064 missense possibly damaging 0.62
X0027:Arhgef9 UTSW X 95054999 missense probably damaging 1.00
Posted On2012-04-20