Incidental Mutation 'IGL01866:Arhgap19'
ID 178521
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap19
Ensembl Gene ENSMUSG00000025154
Gene Name Rho GTPase activating protein 19
Synonyms 4933411B03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01866
Quality Score
Status
Chromosome 19
Chromosomal Location 41755027-41790486 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41775016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 198 (H198Q)
Ref Sequence ENSEMBL: ENSMUSP00000129586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026150] [ENSMUST00000163265] [ENSMUST00000177495]
AlphaFold Q8BRH3
Predicted Effect probably benign
Transcript: ENSMUST00000026150
AA Change: H198Q

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000026150
Gene: ENSMUSG00000025154
AA Change: H198Q

DomainStartEndE-ValueType
low complexity region 88 96 N/A INTRINSIC
RhoGAP 119 305 8.26e-41 SMART
low complexity region 361 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163265
AA Change: H198Q

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000129586
Gene: ENSMUSG00000025154
AA Change: H198Q

DomainStartEndE-ValueType
low complexity region 88 96 N/A INTRINSIC
RhoGAP 119 305 8.26e-41 SMART
low complexity region 361 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177495
AA Change: H198Q

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000135293
Gene: ENSMUSG00000025154
AA Change: H198Q

DomainStartEndE-ValueType
low complexity region 88 96 N/A INTRINSIC
RhoGAP 119 305 8.26e-41 SMART
low complexity region 346 356 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele are viable with no obvious abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T C 4: 144,255,119 (GRCm39) Y180H possibly damaging Het
Abi3bp A T 16: 56,492,336 (GRCm39) I1361L probably benign Het
Amph A T 13: 19,326,172 (GRCm39) D634V probably damaging Het
Ank1 G A 8: 23,583,871 (GRCm39) V317I possibly damaging Het
Ap4e1 G A 2: 126,888,830 (GRCm39) V460I possibly damaging Het
Cacna1g C T 11: 94,347,937 (GRCm39) G717D probably damaging Het
Camkk2 A G 5: 122,902,013 (GRCm39) S99P probably damaging Het
Catsperb T A 12: 101,475,570 (GRCm39) Y371* probably null Het
Cbl A T 9: 44,065,122 (GRCm39) C735* probably null Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Col1a2 G T 6: 4,524,132 (GRCm39) D531Y probably damaging Het
Dscam T A 16: 96,486,550 (GRCm39) T1042S probably benign Het
Dtnb A G 12: 3,782,626 (GRCm39) Y363C probably benign Het
Ear10 A G 14: 44,160,785 (GRCm39) L14P probably damaging Het
Egf A G 3: 129,529,529 (GRCm39) S294P probably benign Het
Erbb3 T C 10: 128,405,237 (GRCm39) *1340W probably null Het
Fam217b A G 2: 178,062,224 (GRCm39) T63A probably benign Het
Fig4 G A 10: 41,108,160 (GRCm39) P680L possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm6882 T A 7: 21,161,512 (GRCm39) I119F probably damaging Het
Hdac10 C A 15: 89,008,736 (GRCm39) G442W probably damaging Het
Mc2r C T 18: 68,540,494 (GRCm39) M266I possibly damaging Het
Mep1b A G 18: 21,228,050 (GRCm39) Q551R probably benign Het
Mtrf1 T A 14: 79,638,948 (GRCm39) C27S probably benign Het
Myo5c T A 9: 75,176,864 (GRCm39) M603K probably benign Het
Nuf2 A G 1: 169,326,407 (GRCm39) L448P possibly damaging Het
Or10a49 C T 7: 108,468,006 (GRCm39) M118I possibly damaging Het
Or1e30 A T 11: 73,678,654 (GRCm39) I297L probably benign Het
Or2b7 T C 13: 21,739,343 (GRCm39) N283S probably benign Het
Or8g33 A T 9: 39,338,025 (GRCm39) M114K probably damaging Het
Ppp2r5c T C 12: 110,534,261 (GRCm39) Y375H probably benign Het
Pstpip2 A G 18: 77,965,325 (GRCm39) I317M probably benign Het
Pxdn A G 12: 30,034,570 (GRCm39) T208A probably benign Het
Rab3gap1 C T 1: 127,818,817 (GRCm39) H116Y probably damaging Het
Rarb T A 14: 16,443,751 (GRCm38) D179V probably benign Het
Rasal1 G A 5: 120,813,488 (GRCm39) A621T probably damaging Het
Rnf6 G A 5: 146,147,717 (GRCm39) R434C probably damaging Het
Scn10a C A 9: 119,464,568 (GRCm39) E1011* probably null Het
Sec24d C T 3: 123,087,244 (GRCm39) Q137* probably null Het
Slc35g1 C A 19: 38,391,642 (GRCm39) A308E probably damaging Het
Smtnl1 C A 2: 84,649,089 (GRCm39) C55F possibly damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stt3a A T 9: 36,645,662 (GRCm39) D676E probably benign Het
Sytl2 T C 7: 90,031,047 (GRCm39) probably benign Het
Trabd2b A G 4: 114,266,117 (GRCm39) T44A probably damaging Het
Trim12a T C 7: 103,953,360 (GRCm39) probably benign Het
Tti1 A T 2: 157,849,618 (GRCm39) D540E probably benign Het
Tubgcp6 A G 15: 88,987,691 (GRCm39) V1094A probably benign Het
Vmn1r34 A G 6: 66,614,373 (GRCm39) Y122H probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp579 T A 7: 4,997,257 (GRCm39) Q218L possibly damaging Het
Other mutations in Arhgap19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03005:Arhgap19 APN 19 41,772,856 (GRCm39) splice site probably benign
IGL03077:Arhgap19 APN 19 41,769,760 (GRCm39) missense probably benign 0.01
R0367:Arhgap19 UTSW 19 41,790,417 (GRCm39) missense probably benign 0.00
R0380:Arhgap19 UTSW 19 41,761,576 (GRCm39) splice site probably benign
R0755:Arhgap19 UTSW 19 41,769,614 (GRCm39) missense probably damaging 1.00
R1622:Arhgap19 UTSW 19 41,790,412 (GRCm39) missense probably benign 0.01
R1738:Arhgap19 UTSW 19 41,772,820 (GRCm39) missense probably benign
R1858:Arhgap19 UTSW 19 41,767,592 (GRCm39) missense probably benign 0.10
R1980:Arhgap19 UTSW 19 41,776,784 (GRCm39) missense possibly damaging 0.65
R3749:Arhgap19 UTSW 19 41,762,518 (GRCm39) missense probably damaging 1.00
R4951:Arhgap19 UTSW 19 41,762,545 (GRCm39) missense probably benign 0.00
R5552:Arhgap19 UTSW 19 41,772,819 (GRCm39) missense probably benign 0.06
R5711:Arhgap19 UTSW 19 41,773,227 (GRCm39) missense possibly damaging 0.91
R6500:Arhgap19 UTSW 19 41,775,077 (GRCm39) missense probably damaging 1.00
R7476:Arhgap19 UTSW 19 41,770,802 (GRCm39) missense probably benign 0.09
R8356:Arhgap19 UTSW 19 41,762,615 (GRCm39) missense probably damaging 1.00
R9350:Arhgap19 UTSW 19 41,761,566 (GRCm39) missense probably benign 0.12
Posted On 2014-05-07