Incidental Mutation 'IGL01996:Arhgap44'
ID 182929
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 # IGL01996
Quality Score
Status
Chromosome 11
Chromosomal Location 64892865-65053779 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to A at 64896322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000047463] [ENSMUST00000071891] [ENSMUST00000093002] [ENSMUST00000101049] [ENSMUST00000108697]
AlphaFold Q5SSM3
Predicted Effect probably benign
Transcript: ENSMUST00000047463
SMART Domains Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389

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 benign
Transcript: ENSMUST00000071891
SMART Domains Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549

DomainStartEndE-ValueType
Pfam:Lactamase_B_4 53 112 1.5e-16 PFAM
Lactamase_B 494 698 1.75e0 SMART
low complexity region 772 791 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093002
SMART Domains Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389

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 probably benign
Transcript: ENSMUST00000101049
SMART Domains Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549

DomainStartEndE-ValueType
Pfam:Lactamase_B_4 53 112 3.1e-17 PFAM
Lactamase_B 494 698 1.75e0 SMART
low complexity region 772 791 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108697
SMART Domains Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549

DomainStartEndE-ValueType
Pfam:Lactamase_B_4 53 112 9.8e-19 PFAM
Lactamase_B 493 697 1.75e0 SMART
low complexity region 771 790 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140369
Predicted Effect probably benign
Transcript: ENSMUST00000130420
SMART Domains Protein: ENSMUSP00000115612
Gene: ENSMUSG00000033389

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,078,430 (GRCm39) V29A possibly damaging Het
Adarb1 A G 10: 77,158,051 (GRCm39) L132P probably damaging Het
Afg3l1 T G 8: 124,228,633 (GRCm39) M733R probably damaging Het
Aox1 C T 1: 58,121,225 (GRCm39) R899C probably benign Het
Asns T C 6: 7,682,378 (GRCm39) D189G possibly damaging Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Ccdc138 T A 10: 58,397,852 (GRCm39) L564H probably damaging Het
Ccdc167 A G 17: 29,924,461 (GRCm39) probably null Het
Ccdc178 A G 18: 22,230,813 (GRCm39) Y353H probably damaging Het
Clca3b A T 3: 144,554,924 (GRCm39) S41R probably benign Het
Dpep3 T C 8: 106,701,358 (GRCm39) N397S probably damaging Het
Eif1 T C 11: 100,211,826 (GRCm39) I83T probably benign Het
Enah A T 1: 181,784,070 (GRCm39) W80R unknown Het
F2rl1 C T 13: 95,650,432 (GRCm39) C150Y probably damaging Het
Fbxw24 T C 9: 109,434,440 (GRCm39) R387G possibly damaging Het
Fsd1l A G 4: 53,647,760 (GRCm39) T68A probably benign Het
Greb1 T C 12: 16,740,846 (GRCm39) K1412R possibly damaging Het
Grin2b T C 6: 135,709,584 (GRCm39) S1321G probably damaging Het
H4c11 G A 13: 21,919,308 (GRCm39) G15S unknown Het
Itgb7 C T 15: 102,126,412 (GRCm39) G508D probably damaging Het
Kcnq3 A G 15: 65,895,545 (GRCm39) I333T probably damaging Het
Knl1 A G 2: 118,934,542 (GRCm39) D2115G probably damaging Het
Lmtk3 G A 7: 45,442,871 (GRCm39) probably null Het
Lrpprc A G 17: 85,080,698 (GRCm39) Y176H probably benign Het
Mier1 T C 4: 102,984,473 (GRCm39) S22P possibly damaging Het
Mme A T 3: 63,250,970 (GRCm39) N337I probably benign Het
Mthfd1 A G 12: 76,350,679 (GRCm39) Y687C probably damaging Het
Nrp2 T C 1: 62,788,419 (GRCm39) M373T probably damaging Het
Nudcd1 A T 15: 44,269,357 (GRCm39) F101Y probably benign Het
Nup133 T A 8: 124,673,334 (GRCm39) I66L probably benign Het
Or10j7 T C 1: 173,011,294 (GRCm39) T236A probably benign Het
Or11j4 T G 14: 50,631,116 (GRCm39) M301R probably damaging Het
Or1e19 T A 11: 73,316,794 (GRCm39) N5I probably damaging Het
Osbpl5 A G 7: 143,261,081 (GRCm39) probably null Het
Paqr8 T C 1: 21,005,628 (GRCm39) F261L probably damaging Het
Plxna2 A G 1: 194,482,084 (GRCm39) E1452G probably damaging Het
Polh T C 17: 46,483,927 (GRCm39) D446G probably benign Het
Psg19 A T 7: 18,523,986 (GRCm39) M353K possibly damaging Het
Sap25 T C 5: 137,640,080 (GRCm39) probably null Het
Sap30l C T 11: 57,700,777 (GRCm39) R144* probably null Het
Sema6b C T 17: 56,438,157 (GRCm39) V144M probably damaging Het
Sfmbt2 T C 2: 10,444,837 (GRCm39) Y228H probably benign Het
Shank2 A G 7: 143,965,230 (GRCm39) D946G probably damaging Het
Slc11a1 T A 1: 74,415,965 (GRCm39) L52Q possibly damaging Het
Sptlc3 T C 2: 139,423,424 (GRCm39) probably benign Het
Tgfb1i1 T C 7: 127,848,464 (GRCm39) probably benign Het
Tifa T C 3: 127,590,229 (GRCm39) probably benign Het
Tomm40l C T 1: 171,047,224 (GRCm39) V265M possibly damaging Het
Trim45 C A 3: 100,835,425 (GRCm39) Y469* probably null Het
Ttc21a G T 9: 119,787,182 (GRCm39) A730S probably damaging Het
Vmn1r18 A T 6: 57,367,001 (GRCm39) D184E possibly damaging Het
Vmn2r120 A T 17: 57,832,222 (GRCm39) I189N possibly damaging Het
Other mutations in Arhgap44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Arhgap44 APN 11 64,932,275 (GRCm39) missense probably damaging 0.96
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
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 2014-05-07