Incidental Mutation 'R9344:Arhgap44'
ID 707698
Institutional Source Beutler Lab
Gene Symbol Arhgap44
Ensembl Gene ENSMUSG00000033389
Gene Name Rho GTPase activating protein 44
Synonyms AU040829
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9344 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 64892865-65053779 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 65053463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000039139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020855] [ENSMUST00000047463] [ENSMUST00000093001] [ENSMUST00000093002] [ENSMUST00000108696]
AlphaFold Q5SSM3
Predicted Effect probably benign
Transcript: ENSMUST00000020855
SMART Domains Protein: ENSMUSP00000020855
Gene: ENSMUSG00000020548

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 106 115 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000047463
AA Change: M1T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389
AA Change: M1T

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: ENSMUST00000093001
SMART Domains Protein: ENSMUSP00000090680
Gene: ENSMUSG00000033389

DomainStartEndE-ValueType
BAR 5 210 8.8e-26 SMART
Predicted Effect probably null
Transcript: ENSMUST00000093002
AA Change: M1T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389
AA Change: M1T

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: ENSMUST00000108696
SMART Domains Protein: ENSMUSP00000104336
Gene: ENSMUSG00000020548

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 106 115 N/A INTRINSIC
Meta Mutation Damage Score 0.9387 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,591,135 (GRCm39) V31A possibly damaging Het
Adss2 A G 1: 177,597,527 (GRCm39) Y378H probably damaging Het
Aldh1a1 T A 19: 20,608,150 (GRCm39) V324D probably damaging Het
Ankrd33b A G 15: 31,297,903 (GRCm39) S285P probably damaging Het
Arel1 C T 12: 84,981,371 (GRCm39) G269S probably damaging Het
Arpin C T 7: 79,577,983 (GRCm39) V149I probably benign Het
Arpp21 A G 9: 112,014,720 (GRCm39) L28P possibly damaging Het
Ccr8 G A 9: 119,923,133 (GRCm39) V83I probably damaging Het
Cnksr1 T C 4: 133,963,508 (GRCm39) E58G probably damaging Het
Dctn2 T A 10: 127,114,084 (GRCm39) H341Q probably damaging Het
Ddx21 C A 10: 62,428,825 (GRCm39) A362S possibly damaging Het
Dnajc1 C T 2: 18,289,586 (GRCm39) V274I probably benign Het
Dock3 A C 9: 106,870,763 (GRCm39) C550W probably damaging Het
Dst T C 1: 34,220,676 (GRCm39) L2160S probably damaging Het
Duox1 T A 2: 122,168,163 (GRCm39) M1096K probably benign Het
Dync2h1 A T 9: 7,148,659 (GRCm39) D928E probably benign Het
E030025P04Rik C T 11: 109,030,454 (GRCm39) probably null Het
Eid2b T C 7: 27,977,591 (GRCm39) M129T possibly damaging Het
Fnip2 G A 3: 79,407,717 (GRCm39) S288F possibly damaging Het
Grm4 G T 17: 27,653,737 (GRCm39) R738S probably benign Het
Gsto2 A G 19: 47,864,884 (GRCm39) D139G probably benign Het
Herc2 T A 7: 55,772,112 (GRCm39) V1097E probably benign Het
Impg1 G A 9: 80,312,040 (GRCm39) A181V probably benign Het
Irs2 G T 8: 11,057,289 (GRCm39) S381* probably null Het
Itprid1 C T 6: 55,955,470 (GRCm39) T1026I probably benign Het
Lrrd1 A C 5: 3,908,819 (GRCm39) D697A possibly damaging Het
Nat10 A G 2: 103,573,460 (GRCm39) S346P probably damaging Het
Ncapg2 G A 12: 116,388,273 (GRCm39) R319H probably damaging Het
Nid1 A G 13: 13,652,894 (GRCm39) Y568C probably damaging Het
Noc2l G A 4: 156,325,130 (GRCm39) C325Y probably damaging Het
Or12e9 A T 2: 87,202,161 (GRCm39) D95V possibly damaging Het
Or1e17 C A 11: 73,831,744 (GRCm39) S224Y possibly damaging Het
Pde2a G T 7: 101,144,891 (GRCm39) V169F possibly damaging Het
Pon3 T C 6: 5,221,586 (GRCm39) K348R probably benign Het
Ppp6c A G 2: 39,090,052 (GRCm39) probably null Het
Prrc2b G A 2: 32,103,600 (GRCm39) G1026D probably benign Het
Psg22 A T 7: 18,460,816 (GRCm39) T482S possibly damaging Het
Rdh19 G A 10: 127,692,740 (GRCm39) V136M probably damaging Het
Sbf2 T A 7: 109,940,535 (GRCm39) N1275I probably benign Het
Sema4c T C 1: 36,592,395 (GRCm39) N182D probably damaging Het
Slc7a12 T A 3: 14,570,491 (GRCm39) H414Q probably damaging Het
Slitrk5 A G 14: 111,916,702 (GRCm39) I109V probably damaging Het
Spag17 C T 3: 100,010,793 (GRCm39) P2096S probably benign Het
Steap1 T A 5: 5,786,459 (GRCm39) D326V probably damaging Het
Tacr1 C T 6: 82,380,847 (GRCm39) T86I probably damaging Het
Tenm4 C T 7: 96,545,352 (GRCm39) T2493I probably damaging Het
Tet2 A G 3: 133,175,115 (GRCm39) S1411P possibly damaging Het
Tom1 C T 8: 75,785,076 (GRCm39) R303C probably damaging Het
Trav7n-4 T A 14: 53,329,200 (GRCm39) I70N possibly damaging Het
Utrn A C 10: 12,560,275 (GRCm39) V1338G probably benign Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r122 A T 7: 20,867,271 (GRCm39) H261Q probably benign Het
Vmn1r40 G T 6: 89,691,235 (GRCm39) L17F probably benign Het
Vmn2r54 A G 7: 12,366,283 (GRCm39) V217A probably benign Het
Vmn2r55 C A 7: 12,385,782 (GRCm39) G733* probably null Het
Vmn2r98 A T 17: 19,286,777 (GRCm39) N425I probably benign Het
Vps51 C T 19: 6,126,345 (GRCm39) V136I unknown Het
Zfp184 T C 13: 22,144,411 (GRCm39) C706R probably 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
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
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
Predicted Primers PCR Primer
(F):5'- GAGGAAAGGTCTCACCAACG -3'
(R):5'- GCTGTCCCTACAAACTTTGGAC -3'

Sequencing Primer
(F):5'- GGTCTCACCAACGACCCG -3'
(R):5'- TGTCCCTACAAACTTTGGACAGAGG -3'
Posted On 2022-04-18