Incidental Mutation 'IGL01481:Arhgef7'
ID88624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef7
Ensembl Gene ENSMUSG00000031511
Gene NameRho guanine nucleotide exchange factor (GEF7)
Synonymscool-1, betaPix, Cool, PIX, Pak interacting exchange factor, p85SPR, betaPix-b, betaPix-c
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.788) question?
Stock #IGL01481
Quality Score
Status
Chromosome8
Chromosomal Location11727721-11835219 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 11815256 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 410 (V410L)
Ref Sequence ENSEMBL: ENSMUSP00000106529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074856] [ENSMUST00000098938] [ENSMUST00000110904] [ENSMUST00000110909]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000033908
SMART Domains Protein: ENSMUSP00000033908
Gene: ENSMUSG00000031511

DomainStartEndE-ValueType
CH 3 107 7.28e-13 SMART
SH3 166 221 9.97e-26 SMART
RhoGEF 254 429 8.36e-43 SMART
PH 459 559 3.77e-9 SMART
low complexity region 600 614 N/A INTRINSIC
low complexity region 630 647 N/A INTRINSIC
low complexity region 660 672 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074856
AA Change: V404L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074399
Gene: ENSMUSG00000031511
AA Change: V404L

DomainStartEndE-ValueType
SH3 9 64 9.97e-26 SMART
RhoGEF 97 272 8.36e-43 SMART
PH 302 402 3.77e-9 SMART
low complexity region 443 457 N/A INTRINSIC
low complexity region 473 490 N/A INTRINSIC
low complexity region 503 515 N/A INTRINSIC
PDB:3L4F|C 587 646 2e-32 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000098938
AA Change: V404L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000096538
Gene: ENSMUSG00000031511
AA Change: V404L

DomainStartEndE-ValueType
SH3 9 64 9.97e-26 SMART
RhoGEF 97 272 8.36e-43 SMART
PH 302 402 3.77e-9 SMART
low complexity region 443 457 N/A INTRINSIC
low complexity region 473 490 N/A INTRINSIC
low complexity region 503 515 N/A INTRINSIC
low complexity region 569 600 N/A INTRINSIC
PDB:3L4F|C 646 705 2e-32 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000110904
AA Change: V410L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000106529
Gene: ENSMUSG00000031511
AA Change: V410L

DomainStartEndE-ValueType
SH3 9 64 9.97e-26 SMART
RhoGEF 97 272 8.36e-43 SMART
PH 302 402 3.77e-9 SMART
low complexity region 428 440 N/A INTRINSIC
low complexity region 494 525 N/A INTRINSIC
PDB:3L4F|C 571 630 2e-32 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000110909
AA Change: V561L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106534
Gene: ENSMUSG00000031511
AA Change: V561L

DomainStartEndE-ValueType
CH 3 107 7.28e-13 SMART
Pfam:RhoGEF67_u1 117 163 8e-21 PFAM
SH3 166 221 9.97e-26 SMART
RhoGEF 254 429 8.36e-43 SMART
PH 459 559 3.77e-9 SMART
Pfam:RhoGEF67_u2 611 711 2.3e-53 PFAM
low complexity region 726 757 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211510
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,933,098 S523C probably damaging Het
Apaf1 A T 10: 91,031,588 D798E possibly damaging Het
Capn7 T C 14: 31,355,339 L338P probably damaging Het
Cldn17 A G 16: 88,506,583 V86A probably benign Het
Clec4a2 A G 6: 123,142,500 N237S probably benign Het
Cmtr1 T G 17: 29,698,657 I654S probably benign Het
Cryzl2 G A 1: 157,470,739 probably null Het
Ctif A G 18: 75,611,784 probably benign Het
Dcaf7 T A 11: 106,054,746 I307N probably damaging Het
Drosha A T 15: 12,842,439 T399S probably benign Het
Eef2k A T 7: 120,895,218 Y35F probably benign Het
Emc1 T C 4: 139,362,099 S193P probably benign Het
Fpr2 T C 17: 17,892,763 I7T probably benign Het
Fras1 C A 5: 96,657,241 N1247K probably damaging Het
Gipr T C 7: 19,159,506 probably benign Het
Heatr5a C T 12: 51,955,425 G243S probably damaging Het
Hivep2 G A 10: 14,149,237 R2265Q probably benign Het
Iars T C 13: 49,728,698 S1073P probably benign Het
Inpp4b T C 8: 81,997,380 S514P probably damaging Het
Inpp5b T A 4: 124,800,699 probably null Het
Itga2 C T 13: 114,859,632 V708I possibly damaging Het
Itih5 A C 2: 10,190,289 Q164P probably damaging Het
Map3k19 T A 1: 127,822,478 E1045D probably damaging Het
Mbd5 T C 2: 49,278,939 V1374A possibly damaging Het
Mrps34 T C 17: 24,897,336 probably benign Het
Nadsyn1 T C 7: 143,812,584 D191G probably damaging Het
Nlrc3 T G 16: 3,963,905 N563H probably damaging Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1252 A G 2: 89,721,526 L195P probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr654 C A 7: 104,587,860 P36T probably damaging Het
Olfr981 T C 9: 40,023,278 M295T possibly damaging Het
Pdgfd C A 9: 6,337,271 T195K probably null Het
Ptprz1 C A 6: 22,999,980 Q690K probably benign Het
Scfd1 T A 12: 51,384,120 M23K probably damaging Het
Scn10a G A 9: 119,609,194 R1869C probably damaging Het
Scp2 T C 4: 108,074,442 probably null Het
Sec61a1 A G 6: 88,506,847 V354A probably benign Het
Sgpp1 T C 12: 75,722,657 I246V probably benign Het
Slco2a1 G T 9: 103,070,251 D250Y probably damaging Het
Slit2 A G 5: 48,302,931 N1435D probably benign Het
Sspo A G 6: 48,448,515 I23M probably benign Het
Steap4 A T 5: 7,976,858 T274S probably damaging Het
Tbc1d22b T C 17: 29,568,598 L107P possibly damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem45a2 T A 16: 57,047,012 I109F probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Tox T A 4: 6,842,396 T45S probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wdr7 G A 18: 63,739,179 D395N probably damaging Het
Other mutations in Arhgef7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Arhgef7 APN 8 11782540 missense probably damaging 1.00
IGL02376:Arhgef7 APN 8 11817735 missense probably damaging 1.00
IGL02812:Arhgef7 APN 8 11781245 unclassified probably benign
IGL02813:Arhgef7 APN 8 11800767 unclassified probably benign
IGL02864:Arhgef7 APN 8 11815247 missense possibly damaging 0.49
Mental_fitness UTSW 8 11800811 missense probably damaging 1.00
R0139:Arhgef7 UTSW 8 11800503 missense probably damaging 0.99
R0157:Arhgef7 UTSW 8 11785812 missense probably damaging 1.00
R0332:Arhgef7 UTSW 8 11824701 nonsense probably null
R0448:Arhgef7 UTSW 8 11819659 missense possibly damaging 0.78
R0973:Arhgef7 UTSW 8 11819659 missense possibly damaging 0.78
R1491:Arhgef7 UTSW 8 11819733 critical splice donor site probably null
R1566:Arhgef7 UTSW 8 11782620 missense possibly damaging 0.85
R1601:Arhgef7 UTSW 8 11782638 unclassified probably null
R1716:Arhgef7 UTSW 8 11808713 splice site probably null
R1717:Arhgef7 UTSW 8 11808712 unclassified probably benign
R1717:Arhgef7 UTSW 8 11808713 splice site probably null
R1719:Arhgef7 UTSW 8 11808713 splice site probably null
R1901:Arhgef7 UTSW 8 11808713 splice site probably null
R1902:Arhgef7 UTSW 8 11808713 splice site probably null
R1933:Arhgef7 UTSW 8 11808713 splice site probably null
R1934:Arhgef7 UTSW 8 11808713 splice site probably null
R1956:Arhgef7 UTSW 8 11805266 missense probably damaging 1.00
R2122:Arhgef7 UTSW 8 11728256 missense possibly damaging 0.94
R2273:Arhgef7 UTSW 8 11815010 missense possibly damaging 0.94
R2275:Arhgef7 UTSW 8 11815010 missense possibly damaging 0.94
R2306:Arhgef7 UTSW 8 11812680 nonsense probably null
R2375:Arhgef7 UTSW 8 11814995 missense probably benign 0.08
R4530:Arhgef7 UTSW 8 11800802 missense possibly damaging 0.60
R4805:Arhgef7 UTSW 8 11831552 missense probably damaging 1.00
R5204:Arhgef7 UTSW 8 11800775 nonsense probably null
R5212:Arhgef7 UTSW 8 11728388 missense probably benign 0.40
R5256:Arhgef7 UTSW 8 11800811 missense probably damaging 1.00
R5718:Arhgef7 UTSW 8 11785774 missense probably damaging 1.00
R6195:Arhgef7 UTSW 8 11822017 missense probably damaging 1.00
R6503:Arhgef7 UTSW 8 11833054 missense possibly damaging 0.58
R6679:Arhgef7 UTSW 8 11824667 missense possibly damaging 0.79
Posted On2013-11-18