Incidental Mutation 'R7388:Arhgap44'
ID 573268
Institutional Source Beutler Lab
Gene Symbol Arhgap44
Ensembl Gene ENSMUSG00000033389
Gene Name Rho GTPase activating protein 44
Synonyms AU040829
MMRRC Submission 045470-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7388 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 64892865-65053779 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 64915094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 391 (Y391*)
Ref Sequence ENSEMBL: ENSMUSP00000039139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047463] [ENSMUST00000093002]
AlphaFold Q5SSM3
Predicted Effect probably null
Transcript: ENSMUST00000047463
AA Change: Y391*
SMART Domains Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389
AA Change: Y391*

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 null
Transcript: ENSMUST00000093002
AA Change: Y391*
SMART Domains Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389
AA Change: Y391*

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 null
Transcript: ENSMUST00000130420
AA Change: Y265*
SMART Domains Protein: ENSMUSP00000115612
Gene: ENSMUSG00000033389
AA Change: Y265*

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
Meta Mutation Damage Score 0.9712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 T C 18: 67,556,023 (GRCm39) E436G probably damaging Het
Agbl5 T A 5: 31,060,583 (GRCm39) L759* probably null Het
Ankrd13b T C 11: 77,363,583 (GRCm39) D460G probably benign Het
Apol10a A G 15: 77,373,225 (GRCm39) D287G possibly damaging Het
Asz1 G T 6: 18,074,900 (GRCm39) S271R probably benign Het
AW554918 A G 18: 25,473,170 (GRCm39) N325D probably benign Het
Brinp2 A T 1: 158,082,579 (GRCm39) L247Q probably damaging Het
Casz1 A G 4: 149,036,850 (GRCm39) D1704G unknown Het
Cdk5rap1 G A 2: 154,202,595 (GRCm39) R212W probably damaging Het
Cdkl2 T A 5: 92,167,318 (GRCm39) T444S probably benign Het
Cers2 T G 3: 95,228,656 (GRCm39) F160V probably benign Het
Cfap276 T C 3: 108,450,815 (GRCm39) F86L possibly damaging Het
Cga T A 4: 34,907,076 (GRCm39) M99K probably benign Het
Cspp1 C T 1: 10,135,572 (GRCm39) R138* probably null Het
Dao T G 5: 114,153,273 (GRCm39) *133E probably null Het
Ddx1 A T 12: 13,275,456 (GRCm39) C544S probably null Het
Dgkq A T 5: 108,806,112 (GRCm39) V98E probably damaging Het
Dnah6 T A 6: 73,169,300 (GRCm39) T434S possibly damaging Het
Dntt A G 19: 41,027,418 (GRCm39) N162D probably benign Het
Dpysl5 T C 5: 30,902,805 (GRCm39) V79A probably benign Het
Efcab3 T C 11: 104,611,871 (GRCm39) L571P probably damaging Het
Ep300 T C 15: 81,532,567 (GRCm39) C1602R unknown Het
Flrt3 C T 2: 140,503,672 (GRCm39) probably null Het
Gk2 A G 5: 97,604,757 (GRCm39) V27A probably damaging Het
Gnpat T G 8: 125,614,553 (GRCm39) M663R probably benign Het
Hc A T 2: 34,874,859 (GRCm39) probably null Het
Il12rb1 A G 8: 71,263,271 (GRCm39) Y67C probably damaging Het
Ints15 G A 5: 143,297,600 (GRCm39) A149V probably benign Het
Kmt2b C T 7: 30,281,385 (GRCm39) D1229N probably damaging Het
Lamc1 T C 1: 153,124,822 (GRCm39) T650A probably damaging Het
Lrp1 G A 10: 127,419,766 (GRCm39) R948* probably null Het
Map3k21 T C 8: 126,654,336 (GRCm39) I385T probably damaging Het
Mmrn1 T A 6: 60,953,236 (GRCm39) S506T probably benign Het
Nlrp1a A G 11: 71,014,023 (GRCm39) F409S probably damaging Het
Nlrp3 T A 11: 59,455,892 (GRCm39) I896N probably benign Het
Noxred1 C A 12: 87,273,799 (GRCm39) V81L probably damaging Het
Nrcam A T 12: 44,645,272 (GRCm39) I1225F probably damaging Het
Or2z2 C T 11: 58,346,481 (GRCm39) C98Y probably damaging Het
Otos T A 1: 92,572,241 (GRCm39) probably null Het
Pcdh20 A G 14: 88,706,103 (GRCm39) I399T probably benign Het
Pkhd1 C T 1: 20,309,528 (GRCm39) V2807I not run Het
Prrx2 A G 2: 30,770,902 (GRCm39) E235G probably damaging Het
Rab13 T C 3: 90,128,327 (GRCm39) I41T probably damaging Het
Rai1 A C 11: 60,080,201 (GRCm39) T1422P possibly damaging Het
Rcn1 C T 2: 105,222,336 (GRCm39) V217M probably damaging Het
Scn2a T A 2: 65,518,998 (GRCm39) V408E probably damaging Het
Sec16a C T 2: 26,318,376 (GRCm39) A121T Het
Slc35d1 A G 4: 103,046,982 (GRCm39) probably null Het
Slc39a6 A T 18: 24,717,106 (GRCm39) V642E probably damaging Het
Slc6a19 G A 13: 73,841,203 (GRCm39) A69V probably benign Het
Spink6 A T 18: 44,215,386 (GRCm39) T79S probably damaging Het
Spire1 T C 18: 67,652,950 (GRCm39) D170G probably damaging Het
Sugp1 T C 8: 70,505,269 (GRCm39) S79P probably damaging Het
Syne3 A G 12: 104,934,167 (GRCm39) Y201H probably damaging Het
Tbc1d10a T C 11: 4,155,858 (GRCm39) probably null Het
Tmem14a C T 1: 21,299,735 (GRCm39) Q122* probably null Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Trmt61a A G 12: 111,645,321 (GRCm39) I86V possibly damaging Het
Tubgcp4 G A 2: 121,020,447 (GRCm39) probably null Het
Vmn1r79 T A 7: 11,910,668 (GRCm39) Y183* probably null Het
Vmn2r11 A T 5: 109,202,742 (GRCm39) W112R probably benign Het
Vpreb1a T C 16: 16,686,516 (GRCm39) K125E probably benign Het
Wdr6 A T 9: 108,451,971 (GRCm39) F637L 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
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
Predicted Primers PCR Primer
(F):5'- CCTCCTGGCGCCAAGAGA -3'
(R):5'- CTGTCTGCTTTGGGGAAGAG -3'

Sequencing Primer
(F):5'- ACCGGCCATGTCAGAATTTG -3'
(R):5'- AGAATGAGTCTCCTTGCCAAG -3'
Posted On 2019-09-13