Incidental Mutation 'R1980:Arhgap19'
ID222236
Institutional Source Beutler Lab
Gene Symbol Arhgap19
Ensembl Gene ENSMUSG00000025154
Gene NameRho GTPase activating protein 19
Synonyms
MMRRC Submission 039992-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1980 (G1)
Quality Score225
Status Not validated
Chromosome19
Chromosomal Location41766588-41802084 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 41788345 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 122 (I122L)
Ref Sequence ENSEMBL: ENSMUSP00000135293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026150] [ENSMUST00000163265] [ENSMUST00000177495]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026150
AA Change: I122L

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026150
Gene: ENSMUSG00000025154
AA Change: I122L

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 possibly damaging
Transcript: ENSMUST00000163265
AA Change: I122L

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129586
Gene: ENSMUSG00000025154
AA Change: I122L

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 possibly damaging
Transcript: ENSMUST00000177495
AA Change: I122L

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135293
Gene: ENSMUSG00000025154
AA Change: I122L

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.1%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415L06Rik A T X: 89,931,445 V382E probably damaging Het
A730017C20Rik T A 18: 59,075,667 M129K probably damaging Het
Acly A C 11: 100,495,876 I620S possibly damaging Het
Acot8 A G 2: 164,795,044 F262S probably damaging Het
Adgb C T 10: 10,433,498 V246I probably benign Het
Akap9 T A 5: 3,972,771 M1200K probably damaging Het
Alg11 T A 8: 22,061,887 F16I possibly damaging Het
Apol7c A G 15: 77,526,044 V234A probably benign Het
Arhgef37 A G 18: 61,508,696 S201P probably damaging Het
Asgr1 A T 11: 70,054,946 D16V probably damaging Het
Camta2 A T 11: 70,682,482 C227S probably benign Het
Cd22 A T 7: 30,873,233 L317Q probably damaging Het
Cenpf A T 1: 189,653,915 I2056K probably benign Het
Cenpi T A X: 134,318,033 F161L possibly damaging Het
Ciapin1 C T 8: 94,832,533 V43I probably benign Het
Dach1 A G 14: 97,831,341 L601P probably damaging Het
Ddx11 T A 17: 66,148,739 L711Q probably damaging Het
Dsg1a A T 18: 20,338,650 N653I probably damaging Het
Fezf2 G T 14: 12,344,405 P261T probably benign Het
Galnt5 T C 2: 58,024,723 probably null Het
Gemin5 A G 11: 58,136,917 L935P probably damaging Het
Gm11273 T G 13: 21,501,124 T99P possibly damaging Het
Gm9507 A T 10: 77,811,685 C53* probably null Het
Irgm2 A G 11: 58,220,076 I198V probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 52,725,906 probably benign Het
Klf12 A C 14: 100,149,726 probably null Het
Lpp C T 16: 24,661,701 P73L probably damaging Het
Lrrc34 G A 3: 30,642,741 H127Y probably benign Het
Lyar T C 5: 38,224,709 S12P probably damaging Het
Maml3 A G 3: 52,104,052 I31T unknown Het
Mei1 A G 15: 82,103,312 N859S probably benign Het
Mysm1 A T 4: 94,952,213 N655K probably benign Het
Npnt T C 3: 132,948,132 I29M probably benign Het
Nrxn1 A G 17: 91,088,318 W137R probably benign Het
Numb C T 12: 83,797,344 probably null Het
Obsl1 A G 1: 75,505,836 F130S probably damaging Het
Olfr1297 T A 2: 111,621,241 I278F probably benign Het
Olfr91 T G 17: 37,093,403 Q157P probably damaging Het
Pbx4 T C 8: 69,870,126 V294A probably benign Het
Pde4dip A C 3: 97,756,996 L524R possibly damaging Het
Plppr1 G A 4: 49,337,655 A319T probably benign Het
Ppid A T 3: 79,593,618 I32F probably damaging Het
Prkcsh A G 9: 22,012,868 D458G probably damaging Het
Prr27 A G 5: 87,843,402 E291G probably benign Het
Psme4 A T 11: 30,832,615 K923N possibly damaging Het
Rab25 T C 3: 88,543,458 T45A probably damaging Het
Rapgef1 C T 2: 29,722,227 P630S probably benign Het
Rasa2 T C 9: 96,570,768 D355G probably damaging Het
Rel C T 11: 23,742,761 G424D probably benign Het
Rtn4 A T 11: 29,708,634 E929D probably benign Het
Samt3 A C X: 86,047,134 M211L probably benign Het
Slk T G 19: 47,611,989 I151S probably damaging Het
Spin1 T A 13: 51,144,470 V175D probably damaging Het
Ssxb10 A G X: 8,331,019 D77G probably benign Het
Ticam1 C T 17: 56,271,555 R180H probably damaging Het
Tmem151b G C 17: 45,545,461 P351R possibly damaging Het
Tmod1 A C 4: 46,061,043 Y10S probably damaging Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Trpm1 T C 7: 64,208,434 Y225H possibly damaging Het
Ttc17 T C 2: 94,326,704 N411S possibly damaging Het
Tyro3 A G 2: 119,808,817 D335G probably benign Het
Unc79 C A 12: 103,011,279 Y180* probably null Het
Upp1 A T 11: 9,134,872 D197V possibly damaging Het
Vmn1r226 T A 17: 20,688,046 M180K possibly damaging Het
Vtn T A 11: 78,501,898 I434N probably damaging Het
Zfp329 T A 7: 12,811,468 N43I probably benign Het
Zfp819 A G 7: 43,616,461 T47A probably benign Het
Zyg11b G A 4: 108,265,930 T280I probably damaging Het
Other mutations in Arhgap19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01866:Arhgap19 APN 19 41786577 missense probably benign 0.09
IGL03005:Arhgap19 APN 19 41784417 splice site probably benign
IGL03077:Arhgap19 APN 19 41781321 missense probably benign 0.01
R0367:Arhgap19 UTSW 19 41801978 missense probably benign 0.00
R0380:Arhgap19 UTSW 19 41773137 splice site probably benign
R0755:Arhgap19 UTSW 19 41781175 missense probably damaging 1.00
R1622:Arhgap19 UTSW 19 41801973 missense probably benign 0.01
R1738:Arhgap19 UTSW 19 41784381 missense probably benign
R1858:Arhgap19 UTSW 19 41779153 missense probably benign 0.10
R3749:Arhgap19 UTSW 19 41774079 missense probably damaging 1.00
R4951:Arhgap19 UTSW 19 41774106 missense probably benign 0.00
R5552:Arhgap19 UTSW 19 41784380 missense probably benign 0.06
R5711:Arhgap19 UTSW 19 41784788 missense possibly damaging 0.91
R6500:Arhgap19 UTSW 19 41786638 missense probably damaging 1.00
R7476:Arhgap19 UTSW 19 41782363 missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TCTACCACCCAAAATTATCAGAGGTTC -3'
(R):5'- ATGCTTGGATGATTTTAGAACCGTG -3'

Sequencing Primer
(F):5'- CCCAAAATTATCAGAGGTTCTTTTTG -3'
(R):5'- TCTCAGGTAAAGGCATCCGATG -3'
Posted On2014-08-25