Incidental Mutation 'IGL03166:Arhgap24'
ID 411657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap24
Ensembl Gene ENSMUSG00000057315
Gene Name Rho GTPase activating protein 24
Synonyms 0610025G21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03166
Quality Score
Status
Chromosome 5
Chromosomal Location 102629257-103045803 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 103023552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070000] [ENSMUST00000073302] [ENSMUST00000094559] [ENSMUST00000112852] [ENSMUST00000112853] [ENSMUST00000112854]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070000
SMART Domains Protein: ENSMUSP00000070048
Gene: ENSMUSG00000057315

DomainStartEndE-ValueType
RhoGAP 58 234 7.04e-67 SMART
low complexity region 476 487 N/A INTRINSIC
low complexity region 520 539 N/A INTRINSIC
coiled coil region 558 638 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073302
SMART Domains Protein: ENSMUSP00000073028
Gene: ENSMUSG00000057315

DomainStartEndE-ValueType
Blast:RhoGAP 1 38 5e-16 BLAST
RhoGAP 55 231 7.04e-67 SMART
low complexity region 473 484 N/A INTRINSIC
low complexity region 517 536 N/A INTRINSIC
coiled coil region 555 635 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094559
SMART Domains Protein: ENSMUSP00000092138
Gene: ENSMUSG00000057315

DomainStartEndE-ValueType
PH 18 125 5.35e-23 SMART
RhoGAP 148 324 7.04e-67 SMART
low complexity region 566 577 N/A INTRINSIC
low complexity region 610 629 N/A INTRINSIC
coiled coil region 648 728 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112852
SMART Domains Protein: ENSMUSP00000108473
Gene: ENSMUSG00000057315

DomainStartEndE-ValueType
Blast:RhoGAP 1 38 5e-16 BLAST
RhoGAP 55 231 7.04e-67 SMART
low complexity region 473 484 N/A INTRINSIC
low complexity region 517 536 N/A INTRINSIC
coiled coil region 555 635 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112853
SMART Domains Protein: ENSMUSP00000108474
Gene: ENSMUSG00000057315

DomainStartEndE-ValueType
Blast:RhoGAP 1 38 5e-16 BLAST
RhoGAP 55 231 7.04e-67 SMART
low complexity region 473 484 N/A INTRINSIC
low complexity region 517 536 N/A INTRINSIC
coiled coil region 555 635 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112854
SMART Domains Protein: ENSMUSP00000108475
Gene: ENSMUSG00000057315

DomainStartEndE-ValueType
Blast:RhoGAP 1 38 5e-16 BLAST
RhoGAP 55 231 7.04e-67 SMART
low complexity region 473 484 N/A INTRINSIC
low complexity region 517 536 N/A INTRINSIC
coiled coil region 555 635 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130222
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Ankfn1 G T 11: 89,429,264 (GRCm39) A40D probably benign Het
Arhgap20 T A 9: 51,761,077 (GRCm39) I940K possibly damaging Het
Bdp1 T C 13: 100,172,308 (GRCm39) T2103A probably benign Het
Cep350 A G 1: 155,739,346 (GRCm39) S2166P possibly damaging Het
Dlg2 T C 7: 91,549,938 (GRCm39) probably benign Het
Fhip2b A T 14: 70,827,616 (GRCm39) C160S probably damaging Het
Fyco1 A T 9: 123,657,452 (GRCm39) L908H probably benign Het
Gprc5b C A 7: 118,583,222 (GRCm39) A216S probably benign Het
Lamc1 A G 1: 153,208,047 (GRCm39) V80A probably benign Het
Lilra6 T C 7: 3,915,626 (GRCm39) I370V possibly damaging Het
Lim2 T A 7: 43,080,047 (GRCm39) C11* probably null Het
Lrp1b T A 2: 41,001,050 (GRCm39) H2058L probably damaging Het
Lrp3 G T 7: 34,901,905 (GRCm39) L659I probably benign Het
Lrrc8a T G 2: 30,145,377 (GRCm39) S64A probably benign Het
Lsr C T 7: 30,661,522 (GRCm39) probably null Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Man2c1 T A 9: 57,046,382 (GRCm39) V479E probably damaging Het
Mtf2 T A 5: 108,254,586 (GRCm39) D462E probably benign Het
Mx2 T C 16: 97,347,990 (GRCm39) I205T probably damaging Het
Nos1 T A 5: 118,052,517 (GRCm39) probably benign Het
Optc C T 1: 133,831,530 (GRCm39) probably benign Het
Or51e2 T C 7: 102,391,254 (GRCm39) N319D probably benign Het
Orm1 C A 4: 63,262,831 (GRCm39) probably benign Het
Pdzd8 T C 19: 59,288,940 (GRCm39) E820G probably damaging Het
Pkp1 A T 1: 135,805,862 (GRCm39) M612K probably damaging Het
Pno1 T A 11: 17,154,513 (GRCm39) probably null Het
Rbm34 T C 8: 127,697,606 (GRCm39) Q35R probably damaging Het
Ryr3 A T 2: 112,471,457 (GRCm39) Y4564* probably null Het
Slc34a3 T C 2: 25,122,186 (GRCm39) I140V probably damaging Het
Slc43a1 T C 2: 84,687,700 (GRCm39) I419T possibly damaging Het
Sltm C A 9: 70,450,251 (GRCm39) A17E possibly damaging Het
Smpdl3b T C 4: 132,468,842 (GRCm39) D125G probably benign Het
Snorc A C 1: 87,402,933 (GRCm39) probably benign Het
Supt3 G T 17: 45,234,106 (GRCm39) A48S probably damaging Het
Tlr3 A G 8: 45,855,965 (GRCm39) F72L probably benign Het
Trim36 T C 18: 46,345,388 (GRCm39) E15G probably benign Het
Tubb4b-ps1 A T 5: 7,229,965 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,871,331 (GRCm39) T651A probably benign Het
Wdr76 G T 2: 121,364,787 (GRCm39) V462F possibly damaging Het
Wnk2 C A 13: 49,224,520 (GRCm39) G1112* probably null Het
Zfp868 A C 8: 70,064,965 (GRCm39) C123W probably damaging Het
Zyg11b T A 4: 108,123,086 (GRCm39) M294L probably benign Het
Other mutations in Arhgap24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Arhgap24 APN 5 103,008,265 (GRCm39) missense possibly damaging 0.94
IGL01483:Arhgap24 APN 5 103,008,243 (GRCm39) missense possibly damaging 0.91
IGL02641:Arhgap24 APN 5 103,040,386 (GRCm39) missense probably damaging 1.00
bullmarket UTSW 5 103,023,643 (GRCm39) missense probably damaging 0.99
buyers UTSW 5 103,045,086 (GRCm39) missense probably damaging 1.00
wallstreet UTSW 5 102,700,163 (GRCm39) splice site probably null
BB009:Arhgap24 UTSW 5 102,993,835 (GRCm39) intron probably benign
BB019:Arhgap24 UTSW 5 102,993,835 (GRCm39) intron probably benign
R0506:Arhgap24 UTSW 5 103,023,643 (GRCm39) missense probably damaging 0.99
R0606:Arhgap24 UTSW 5 103,045,086 (GRCm39) missense probably damaging 1.00
R1457:Arhgap24 UTSW 5 102,811,972 (GRCm39) missense probably damaging 0.98
R1491:Arhgap24 UTSW 5 103,008,198 (GRCm39) missense possibly damaging 0.47
R1707:Arhgap24 UTSW 5 103,039,953 (GRCm39) missense probably benign 0.40
R2112:Arhgap24 UTSW 5 103,040,366 (GRCm39) missense probably damaging 1.00
R2300:Arhgap24 UTSW 5 103,008,291 (GRCm39) missense probably damaging 1.00
R2516:Arhgap24 UTSW 5 103,039,776 (GRCm39) missense probably benign
R3803:Arhgap24 UTSW 5 103,040,308 (GRCm39) missense probably damaging 0.98
R4257:Arhgap24 UTSW 5 102,811,983 (GRCm39) missense probably benign 0.00
R4761:Arhgap24 UTSW 5 102,812,080 (GRCm39) intron probably benign
R5045:Arhgap24 UTSW 5 103,039,743 (GRCm39) missense possibly damaging 0.79
R5121:Arhgap24 UTSW 5 102,989,201 (GRCm39) missense probably damaging 1.00
R5209:Arhgap24 UTSW 5 103,040,015 (GRCm39) missense probably benign 0.12
R5667:Arhgap24 UTSW 5 102,994,037 (GRCm39) critical splice donor site probably null
R5914:Arhgap24 UTSW 5 102,700,025 (GRCm39) splice site probably null
R6039:Arhgap24 UTSW 5 103,028,652 (GRCm39) missense probably damaging 0.98
R6039:Arhgap24 UTSW 5 103,028,652 (GRCm39) missense probably damaging 0.98
R6158:Arhgap24 UTSW 5 103,040,778 (GRCm39) missense probably benign 0.12
R6410:Arhgap24 UTSW 5 103,040,017 (GRCm39) missense probably benign 0.10
R6450:Arhgap24 UTSW 5 103,044,990 (GRCm39) missense probably benign 0.01
R6520:Arhgap24 UTSW 5 103,028,659 (GRCm39) missense probably benign 0.00
R6666:Arhgap24 UTSW 5 102,700,163 (GRCm39) splice site probably null
R7233:Arhgap24 UTSW 5 103,026,367 (GRCm39) missense probably benign 0.03
R7311:Arhgap24 UTSW 5 103,040,551 (GRCm39) missense probably damaging 1.00
R7460:Arhgap24 UTSW 5 103,040,212 (GRCm39) missense probably benign 0.36
R7483:Arhgap24 UTSW 5 102,989,174 (GRCm39) missense probably benign 0.13
R7515:Arhgap24 UTSW 5 102,993,882 (GRCm39) intron probably benign
R7667:Arhgap24 UTSW 5 103,026,323 (GRCm39) missense probably benign
R7932:Arhgap24 UTSW 5 102,993,835 (GRCm39) intron probably benign
R8227:Arhgap24 UTSW 5 103,023,647 (GRCm39) missense probably benign 0.02
R8289:Arhgap24 UTSW 5 103,028,692 (GRCm39) missense possibly damaging 0.88
R8431:Arhgap24 UTSW 5 103,040,464 (GRCm39) missense possibly damaging 0.49
R8721:Arhgap24 UTSW 5 103,023,565 (GRCm39) missense possibly damaging 0.46
R8767:Arhgap24 UTSW 5 103,039,740 (GRCm39) missense probably benign
R8954:Arhgap24 UTSW 5 103,040,136 (GRCm39) missense probably benign 0.00
R9120:Arhgap24 UTSW 5 103,040,016 (GRCm39) missense probably benign 0.05
R9306:Arhgap24 UTSW 5 102,994,008 (GRCm39) missense possibly damaging 0.91
R9687:Arhgap24 UTSW 5 102,994,022 (GRCm39) missense probably benign
Z1176:Arhgap24 UTSW 5 103,028,673 (GRCm39) missense probably benign 0.00
Z1176:Arhgap24 UTSW 5 103,023,625 (GRCm39) missense probably damaging 0.97
Posted On 2016-08-02