Incidental Mutation 'IGL03352:Arhgap45'
ID419758
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap45
Ensembl Gene ENSMUSG00000035697
Gene NameRho GTPase activating protein 45
Synonyms6330406L22Rik, Hmha1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03352
Quality Score
Status
Chromosome10
Chromosomal Location80016653-80031472 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80030751 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 1029 (N1029K)
Ref Sequence ENSEMBL: ENSMUSP00000101012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043311] [ENSMUST00000099501] [ENSMUST00000105373]
Predicted Effect possibly damaging
Transcript: ENSMUST00000043311
AA Change: N902K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: N902K

DomainStartEndE-ValueType
low complexity region 142 153 N/A INTRINSIC
FCH 157 244 4.14e-17 SMART
low complexity region 255 269 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
low complexity region 330 345 N/A INTRINSIC
low complexity region 527 536 N/A INTRINSIC
C1 582 628 3.15e-8 SMART
RhoGAP 653 852 2.73e-73 SMART
low complexity region 856 869 N/A INTRINSIC
Blast:RhoGAP 876 999 1e-21 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000099501
AA Change: N1018K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: N1018K

DomainStartEndE-ValueType
low complexity region 258 269 N/A INTRINSIC
FCH 273 360 4.14e-17 SMART
low complexity region 371 385 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
low complexity region 446 461 N/A INTRINSIC
low complexity region 643 652 N/A INTRINSIC
C1 698 744 3.15e-8 SMART
RhoGAP 769 968 2.73e-73 SMART
low complexity region 972 985 N/A INTRINSIC
Blast:RhoGAP 992 1115 1e-21 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000105373
AA Change: N1029K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: N1029K

DomainStartEndE-ValueType
low complexity region 269 280 N/A INTRINSIC
FCH 284 371 4.14e-17 SMART
low complexity region 382 396 N/A INTRINSIC
low complexity region 436 451 N/A INTRINSIC
low complexity region 457 472 N/A INTRINSIC
low complexity region 654 663 N/A INTRINSIC
C1 709 755 3.15e-8 SMART
RhoGAP 780 979 2.73e-73 SMART
low complexity region 983 996 N/A INTRINSIC
Blast:RhoGAP 1003 1126 1e-21 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150022
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoah A G 13: 21,000,043 S426G probably benign Het
Arap3 T C 18: 37,981,302 probably benign Het
Arhgef10l A T 4: 140,583,931 M1K probably null Het
Bloc1s6 T C 2: 122,742,718 L71P probably damaging Het
Ccer1 G T 10: 97,693,577 R34M unknown Het
Cd44 T C 2: 102,845,414 probably benign Het
Col17a1 T C 19: 47,681,375 probably null Het
Cspp1 A G 1: 10,047,437 E38G possibly damaging Het
Dock10 A T 1: 80,606,296 probably benign Het
Dsg3 A T 18: 20,527,632 M343L probably benign Het
Eif3l G A 15: 79,077,051 probably benign Het
Fcrl1 T C 3: 87,385,091 L150P probably benign Het
Flg2 T G 3: 93,202,494 S610A unknown Het
Grin3b C T 10: 79,973,781 R374C probably damaging Het
H2-Oa A T 17: 34,094,403 I143F probably damaging Het
Itgae C T 11: 73,131,730 P924S probably damaging Het
Itpr2 T A 6: 146,157,104 D2521V probably damaging Het
Laptm4a G A 12: 8,931,719 G143D probably benign Het
Lrp6 T C 6: 134,479,763 Y846C probably damaging Het
Mcm10 A T 2: 4,994,596 S749T probably damaging Het
Nemf T C 12: 69,331,905 N548D probably damaging Het
Nlrp4e T A 7: 23,320,826 L246Q probably damaging Het
Nsun6 A T 2: 14,996,346 C466* probably null Het
Olfm2 T C 9: 20,668,723 D252G probably damaging Het
Olfr112 T A 17: 37,563,790 I174F probably damaging Het
Olfr1499 T C 19: 13,814,928 I221V probably damaging Het
Olfr16 A C 1: 172,957,283 M163L probably benign Het
Olfr91 G A 17: 37,093,419 L152F probably benign Het
Pcdhb14 C T 18: 37,449,004 R388C possibly damaging Het
Piwil1 C T 5: 128,751,072 T712I probably benign Het
Piwil4 G T 9: 14,725,887 T377K probably damaging Het
Prg3 T C 2: 84,993,026 F182L probably damaging Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Retsat T C 6: 72,598,683 V19A probably damaging Het
Rpl21-ps4 A T 14: 11,227,760 noncoding transcript Het
Sh3glb2 A G 2: 30,345,351 V370A probably damaging Het
Skint4 G T 4: 112,165,686 W459C possibly damaging Het
Slco1a1 T A 6: 141,911,885 R573S probably benign Het
Smgc T C 15: 91,860,678 S694P probably damaging Het
Spaca6 A G 17: 17,838,139 Y7C probably damaging Het
Spn T C 7: 127,137,006 T110A probably benign Het
Ssfa2 T A 2: 79,645,101 M468K probably damaging Het
Tepsin C T 11: 120,091,877 V456I probably benign Het
Tex261 C T 6: 83,771,267 R171Q possibly damaging Het
Tmem184a A T 5: 139,813,000 F65I probably damaging Het
Tpm3 G A 3: 90,087,745 probably null Het
Tubgcp2 T A 7: 140,001,027 H671L probably benign Het
Unc13b T G 4: 43,237,110 D3393E possibly damaging Het
Vcan T A 13: 89,705,006 M612L probably benign Het
Vmn1r180 C A 7: 23,952,652 S80* probably null Het
Vmn1r64 C T 7: 5,884,071 V158I probably benign Het
Vps13d C T 4: 145,167,502 V496I possibly damaging Het
Wee2 T G 6: 40,452,655 probably null Het
Zfp804b T C 5: 6,770,039 N972S probably benign Het
Other mutations in Arhgap45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01360:Arhgap45 APN 10 80028648 splice site probably benign
IGL01414:Arhgap45 APN 10 80027104 missense probably damaging 1.00
IGL01505:Arhgap45 APN 10 80026542 missense probably benign 0.10
IGL02203:Arhgap45 APN 10 80027553 nonsense probably null
IGL02557:Arhgap45 APN 10 80021638 missense probably damaging 1.00
IGL02858:Arhgap45 APN 10 80017934 missense probably benign 0.20
IGL03292:Arhgap45 APN 10 80020969 missense probably benign 0.04
Celt UTSW 10 80020818 missense probably damaging 1.00
druid UTSW 10 80026347 critical splice donor site probably null
Mistletoe UTSW 10 80027102 nonsense probably null
Roman UTSW 10 80027597 missense probably damaging 1.00
stonehenge UTSW 10 80025482 missense possibly damaging 0.81
IGL03048:Arhgap45 UTSW 10 80017017 missense probably damaging 0.99
PIT4677001:Arhgap45 UTSW 10 80020749 missense probably benign
R0532:Arhgap45 UTSW 10 80022083 missense possibly damaging 0.92
R1233:Arhgap45 UTSW 10 80027582 missense probably damaging 1.00
R1579:Arhgap45 UTSW 10 80028977 missense probably damaging 1.00
R1666:Arhgap45 UTSW 10 80028750 missense possibly damaging 0.82
R1668:Arhgap45 UTSW 10 80028750 missense possibly damaging 0.82
R1688:Arhgap45 UTSW 10 80029095 missense probably damaging 1.00
R1710:Arhgap45 UTSW 10 80018098 nonsense probably null
R1902:Arhgap45 UTSW 10 80025466 missense probably damaging 0.99
R1912:Arhgap45 UTSW 10 80020690 missense probably benign 0.08
R1935:Arhgap45 UTSW 10 80030954 missense probably damaging 1.00
R1936:Arhgap45 UTSW 10 80030954 missense probably damaging 1.00
R1955:Arhgap45 UTSW 10 80026492 missense probably benign 0.15
R1968:Arhgap45 UTSW 10 80027702 missense probably damaging 1.00
R1977:Arhgap45 UTSW 10 80020818 missense probably damaging 1.00
R1986:Arhgap45 UTSW 10 80020696 missense probably damaging 1.00
R2074:Arhgap45 UTSW 10 80027180 missense probably damaging 1.00
R2081:Arhgap45 UTSW 10 80027674 missense probably damaging 1.00
R2162:Arhgap45 UTSW 10 80016979 start codon destroyed probably null 0.02
R2937:Arhgap45 UTSW 10 80029002 missense probably damaging 1.00
R2938:Arhgap45 UTSW 10 80029002 missense probably damaging 1.00
R3081:Arhgap45 UTSW 10 80026447 missense probably damaging 1.00
R4695:Arhgap45 UTSW 10 80025530 missense probably damaging 1.00
R4736:Arhgap45 UTSW 10 80026172 missense probably damaging 1.00
R4758:Arhgap45 UTSW 10 80030293 missense probably benign 0.00
R4860:Arhgap45 UTSW 10 80027066 missense probably damaging 1.00
R4860:Arhgap45 UTSW 10 80027066 missense probably damaging 1.00
R4934:Arhgap45 UTSW 10 80020957 missense probably damaging 1.00
R4943:Arhgap45 UTSW 10 80026503 missense probably benign 0.00
R5102:Arhgap45 UTSW 10 80021428 missense probably benign 0.01
R5128:Arhgap45 UTSW 10 80030959 missense probably benign 0.16
R5667:Arhgap45 UTSW 10 80025476 missense probably damaging 1.00
R5671:Arhgap45 UTSW 10 80025476 missense probably damaging 1.00
R5920:Arhgap45 UTSW 10 80029131 missense possibly damaging 0.87
R5998:Arhgap45 UTSW 10 80030950 missense probably damaging 0.99
R6276:Arhgap45 UTSW 10 80026234 missense probably benign 0.25
R6675:Arhgap45 UTSW 10 80018104 missense probably null 0.98
R6738:Arhgap45 UTSW 10 80027597 missense probably damaging 1.00
R6783:Arhgap45 UTSW 10 80017864 missense possibly damaging 0.92
R6863:Arhgap45 UTSW 10 80017782 missense probably benign 0.03
R6978:Arhgap45 UTSW 10 80021848 missense probably benign 0.00
R7089:Arhgap45 UTSW 10 80026347 critical splice donor site probably null
R7215:Arhgap45 UTSW 10 80025482 missense possibly damaging 0.81
R7307:Arhgap45 UTSW 10 80029182 missense probably benign 0.14
R7308:Arhgap45 UTSW 10 80026558 critical splice donor site probably null
R7480:Arhgap45 UTSW 10 80027102 nonsense probably null
R7481:Arhgap45 UTSW 10 80022300 missense possibly damaging 0.80
R7649:Arhgap45 UTSW 10 80031001 missense probably benign 0.00
R7652:Arhgap45 UTSW 10 80028838 missense probably benign 0.01
R7748:Arhgap45 UTSW 10 80016932 unclassified probably benign
R7883:Arhgap45 UTSW 10 80027589 nonsense probably null
R7966:Arhgap45 UTSW 10 80027589 nonsense probably null
X0023:Arhgap45 UTSW 10 80030800 missense probably damaging 0.98
X0063:Arhgap45 UTSW 10 80030356 missense possibly damaging 0.51
Z1176:Arhgap45 UTSW 10 80025536 missense probably damaging 1.00
Z1176:Arhgap45 UTSW 10 80029052 missense probably damaging 0.99
Posted On2016-08-02