Incidental Mutation 'IGL01138:Arhgap44'
ID 52371
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap44
Ensembl Gene ENSMUSG00000033389
Gene Name Rho GTPase activating protein 44
Synonyms AU040829
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01138
Quality Score
Status
Chromosome 11
Chromosomal Location 64892865-65053779 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64932275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 215 (F215S)
Ref Sequence ENSEMBL: ENSMUSP00000090681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047463] [ENSMUST00000093002]
AlphaFold Q5SSM3
Predicted Effect probably damaging
Transcript: ENSMUST00000047463
AA Change: F215S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389
AA Change: F215S

DomainStartEndE-ValueType
BAR 1 242 2.27e-71 SMART
RhoGAP 266 442 1.07e-66 SMART
low complexity region 530 556 N/A INTRINSIC
low complexity region 561 575 N/A INTRINSIC
low complexity region 592 606 N/A INTRINSIC
low complexity region 616 631 N/A INTRINSIC
low complexity region 664 689 N/A INTRINSIC
low complexity region 695 707 N/A INTRINSIC
low complexity region 716 746 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000093002
AA Change: F215S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389
AA Change: F215S

DomainStartEndE-ValueType
BAR 1 242 2.27e-71 SMART
RhoGAP 266 442 1.07e-66 SMART
low complexity region 536 562 N/A INTRINSIC
low complexity region 567 581 N/A INTRINSIC
low complexity region 598 612 N/A INTRINSIC
low complexity region 622 637 N/A INTRINSIC
low complexity region 670 695 N/A INTRINSIC
low complexity region 701 713 N/A INTRINSIC
low complexity region 722 752 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119723
Predicted Effect unknown
Transcript: ENSMUST00000130420
AA Change: F89S
SMART Domains Protein: ENSMUSP00000115612
Gene: ENSMUSG00000033389
AA Change: F89S

DomainStartEndE-ValueType
Pfam:BAR 1 117 1.1e-29 PFAM
RhoGAP 141 317 1.07e-66 SMART
low complexity region 411 437 N/A INTRINSIC
low complexity region 442 456 N/A INTRINSIC
low complexity region 473 487 N/A INTRINSIC
low complexity region 497 512 N/A INTRINSIC
low complexity region 545 570 N/A INTRINSIC
low complexity region 576 588 N/A INTRINSIC
low complexity region 597 627 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 61,002,673 (GRCm39) V27A probably benign Het
Abcg5 T A 17: 84,972,275 (GRCm39) R499S possibly damaging Het
Adamts13 T C 2: 26,873,054 (GRCm39) S341P probably damaging Het
Adgrg1 T A 8: 95,730,085 (GRCm39) C96S probably damaging Het
Arhgef25 A G 10: 127,020,039 (GRCm39) F400L probably damaging Het
Baz1a T C 12: 54,977,110 (GRCm39) E384G probably damaging Het
Col12a1 T C 9: 79,585,335 (GRCm39) D1314G probably damaging Het
Col6a3 T A 1: 90,735,232 (GRCm39) I806F probably damaging Het
Coro1c G A 5: 113,990,222 (GRCm39) probably benign Het
Dnmt3b A T 2: 153,503,361 (GRCm39) D4V probably benign Het
Ermn G T 2: 57,942,707 (GRCm39) L8M possibly damaging Het
F13b T A 1: 139,444,950 (GRCm39) N533K probably damaging Het
Fam171a1 T C 2: 3,203,657 (GRCm39) V93A possibly damaging Het
Gpr107 T A 2: 31,062,028 (GRCm39) L152Q probably benign Het
Guca1a C A 17: 47,711,309 (GRCm39) E12D probably damaging Het
Igtp A G 11: 58,096,970 (GRCm39) N47S possibly damaging Het
Lratd2 T A 15: 60,694,967 (GRCm39) I260F probably damaging Het
Lrrc8e A G 8: 4,284,084 (GRCm39) N103S probably damaging Het
Lsmem1 A G 12: 40,230,698 (GRCm39) L68P probably damaging Het
Maml3 A G 3: 51,597,979 (GRCm39) S902P possibly damaging Het
Mkln1 A T 6: 31,409,925 (GRCm39) N188Y probably damaging Het
Mlxip C T 5: 123,588,219 (GRCm39) R771W probably damaging Het
Myf6 T C 10: 107,330,259 (GRCm39) R103G probably damaging Het
Ncam2 T A 16: 81,314,467 (GRCm39) I481K probably damaging Het
Nrap T A 19: 56,343,970 (GRCm39) S645C probably damaging Het
Nup205 G T 6: 35,185,019 (GRCm39) E813* probably null Het
Or13c7c A G 4: 43,835,617 (GRCm39) L291P probably damaging Het
Plekhg5 C T 4: 152,191,435 (GRCm39) R410W probably damaging Het
Pnma8b C A 7: 16,679,088 (GRCm39) T24K unknown Het
Polq A T 16: 36,866,231 (GRCm39) Y476F possibly damaging Het
Prkd2 T C 7: 16,582,736 (GRCm39) S200P probably damaging Het
Rif1 C A 2: 52,001,534 (GRCm39) L1663I probably damaging Het
Serpina5 A G 12: 104,070,003 (GRCm39) Y300C possibly damaging Het
Shroom4 T C X: 6,497,257 (GRCm39) S806P probably damaging Het
Sirpa T C 2: 129,472,085 (GRCm39) V290A probably damaging Het
Slc25a47 C T 12: 108,821,948 (GRCm39) R246C probably damaging Het
Slc9a6 A G X: 55,668,791 (GRCm39) D199G probably damaging Het
Smarca5 T A 8: 81,427,705 (GRCm39) K1048M possibly damaging Het
Sos2 C T 12: 69,663,623 (GRCm39) probably benign Het
Trpm5 T A 7: 142,628,306 (GRCm39) M990L probably benign Het
Vmn2r99 A T 17: 19,602,885 (GRCm39) T547S probably damaging Het
Vps13b T C 15: 35,446,916 (GRCm39) probably benign Het
Zfp994 G A 17: 22,421,649 (GRCm39) probably benign Het
Other mutations in Arhgap44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01553:Arhgap44 APN 11 64,943,944 (GRCm39) missense probably damaging 1.00
IGL01868:Arhgap44 APN 11 64,902,904 (GRCm39) missense probably damaging 1.00
IGL01996:Arhgap44 APN 11 64,896,322 (GRCm39) utr 3 prime probably benign
IGL02093:Arhgap44 APN 11 64,965,360 (GRCm39) missense probably damaging 1.00
IGL02962:Arhgap44 APN 11 64,957,987 (GRCm39) splice site probably benign
IGL02963:Arhgap44 APN 11 64,922,489 (GRCm39) missense probably damaging 1.00
IGL03032:Arhgap44 APN 11 64,915,038 (GRCm39) missense probably damaging 1.00
R0071:Arhgap44 UTSW 11 64,902,721 (GRCm39) missense possibly damaging 0.90
R0152:Arhgap44 UTSW 11 64,902,745 (GRCm39) missense probably benign 0.13
R0402:Arhgap44 UTSW 11 64,922,903 (GRCm39) splice site probably benign
R1109:Arhgap44 UTSW 11 64,917,642 (GRCm39) missense probably benign 0.00
R1694:Arhgap44 UTSW 11 64,944,023 (GRCm39) missense probably damaging 1.00
R1946:Arhgap44 UTSW 11 64,902,922 (GRCm39) missense probably damaging 0.99
R2036:Arhgap44 UTSW 11 64,932,318 (GRCm39) missense possibly damaging 0.83
R2356:Arhgap44 UTSW 11 64,900,851 (GRCm39) missense probably damaging 1.00
R4342:Arhgap44 UTSW 11 64,902,887 (GRCm39) nonsense probably null
R4657:Arhgap44 UTSW 11 64,896,278 (GRCm39) critical splice donor site probably null
R4763:Arhgap44 UTSW 11 64,929,991 (GRCm39) missense probably damaging 0.98
R4803:Arhgap44 UTSW 11 64,943,921 (GRCm39) missense probably benign 0.00
R5652:Arhgap44 UTSW 11 64,915,064 (GRCm39) missense probably damaging 1.00
R5663:Arhgap44 UTSW 11 64,915,117 (GRCm39) missense probably damaging 1.00
R5833:Arhgap44 UTSW 11 64,929,503 (GRCm39) missense probably damaging 1.00
R6000:Arhgap44 UTSW 11 64,922,910 (GRCm39) frame shift probably null
R6001:Arhgap44 UTSW 11 64,922,910 (GRCm39) frame shift probably null
R6046:Arhgap44 UTSW 11 64,922,910 (GRCm39) frame shift probably null
R6066:Arhgap44 UTSW 11 64,922,910 (GRCm39) frame shift probably null
R6160:Arhgap44 UTSW 11 65,053,375 (GRCm39) unclassified probably benign
R6661:Arhgap44 UTSW 11 64,900,834 (GRCm39) missense probably damaging 0.97
R7062:Arhgap44 UTSW 11 64,902,758 (GRCm39) missense probably benign 0.25
R7388:Arhgap44 UTSW 11 64,915,094 (GRCm39) nonsense probably null
R7793:Arhgap44 UTSW 11 64,900,750 (GRCm39) missense probably damaging 0.99
R8190:Arhgap44 UTSW 11 64,929,479 (GRCm39) missense probably damaging 1.00
R8270:Arhgap44 UTSW 11 64,912,860 (GRCm39) missense possibly damaging 0.58
R8321:Arhgap44 UTSW 11 64,899,053 (GRCm39) missense probably benign 0.00
R8369:Arhgap44 UTSW 11 64,950,680 (GRCm39) missense probably damaging 1.00
R8876:Arhgap44 UTSW 11 64,898,896 (GRCm39) missense possibly damaging 0.93
R9296:Arhgap44 UTSW 11 64,957,933 (GRCm39) missense probably damaging 0.99
R9344:Arhgap44 UTSW 11 65,053,463 (GRCm39) start codon destroyed probably null 0.04
R9428:Arhgap44 UTSW 11 64,899,168 (GRCm39) missense probably damaging 1.00
X0022:Arhgap44 UTSW 11 64,944,038 (GRCm39) missense probably damaging 1.00
X0061:Arhgap44 UTSW 11 64,929,471 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21