Incidental Mutation 'R0528:Racgap1'
ID 49019
Institutional Source Beutler Lab
Gene Symbol Racgap1
Ensembl Gene ENSMUSG00000023015
Gene Name Rac GTPase-activating protein 1
Synonyms gtl11, MgcRacGAP, GTPase, Band25
MMRRC Submission 038720-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0528 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 99518377-99549504 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99526587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 325 (H325Q)
Ref Sequence ENSEMBL: ENSMUSP00000126417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023756] [ENSMUST00000168065] [ENSMUST00000169810] [ENSMUST00000171702]
AlphaFold Q9WVM1
Predicted Effect probably damaging
Transcript: ENSMUST00000023756
AA Change: H325Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023756
Gene: ENSMUSG00000023015
AA Change: H325Q

DomainStartEndE-ValueType
coiled coil region 35 110 N/A INTRINSIC
C1 288 336 2.44e-5 SMART
RhoGAP 361 537 3.4e-51 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165745
Predicted Effect probably benign
Transcript: ENSMUST00000168065
SMART Domains Protein: ENSMUSP00000132732
Gene: ENSMUSG00000023015

DomainStartEndE-ValueType
coiled coil region 6 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168976
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169700
Predicted Effect probably benign
Transcript: ENSMUST00000169810
SMART Domains Protein: ENSMUSP00000130876
Gene: ENSMUSG00000023015

DomainStartEndE-ValueType
coiled coil region 35 110 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171702
AA Change: H325Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126417
Gene: ENSMUSG00000023015
AA Change: H325Q

DomainStartEndE-ValueType
coiled coil region 35 110 N/A INTRINSIC
C1 288 336 2.44e-5 SMART
RhoGAP 361 537 3.4e-51 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170369
Meta Mutation Damage Score 0.9410 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 96% (65/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]
PHENOTYPE: Embryos homozygous for a gene-trapped allele exhibit pre-implantation lethality associated with the formation of multinucleated blastomeres and failure to complete cytokinesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,838,848 (GRCm39) W674G probably damaging Het
Abcc9 G A 6: 142,638,606 (GRCm39) H103Y probably damaging Het
Ano7 A G 1: 93,323,224 (GRCm39) N495S probably null Het
Aoc1l3 T A 6: 48,964,965 (GRCm39) D324E probably benign Het
Ash1l A G 3: 88,889,584 (GRCm39) N488D probably benign Het
Astn2 A G 4: 65,563,119 (GRCm39) probably benign Het
Atraid T A 5: 31,209,796 (GRCm39) probably benign Het
Baz2b T C 2: 59,767,083 (GRCm39) R866G probably damaging Het
Cep164 T A 9: 45,688,234 (GRCm39) probably benign Het
Clec4f G A 6: 83,629,776 (GRCm39) Q261* probably null Het
Cpne4 A T 9: 104,563,640 (GRCm39) N6Y probably damaging Het
Dhx38 G T 8: 110,289,293 (GRCm39) Q36K probably benign Het
Dna2 C A 10: 62,793,910 (GRCm39) Q341K probably benign Het
Dynap A G 18: 70,375,165 (GRCm39) probably benign Het
Eif3l T C 15: 78,973,809 (GRCm39) V408A probably benign Het
Foxi3 T A 6: 70,934,122 (GRCm39) I203N probably damaging Het
Gcc2 T A 10: 58,134,511 (GRCm39) L1495Q probably damaging Het
Gpr158 A G 2: 21,830,019 (GRCm39) D688G probably damaging Het
Hcfc2 C A 10: 82,575,079 (GRCm39) T246K probably damaging Het
Hdc C T 2: 126,458,152 (GRCm39) E57K probably benign Het
Iqsec3 G C 6: 121,389,743 (GRCm39) probably benign Het
Islr2 T A 9: 58,106,645 (GRCm39) E205V probably damaging Het
Klf9 T C 19: 23,119,498 (GRCm39) L127P probably benign Het
Lamc2 A T 1: 152,999,840 (GRCm39) L1173Q probably damaging Het
Lipe G A 7: 25,097,901 (GRCm39) T14I possibly damaging Het
Lnpep A G 17: 17,751,394 (GRCm39) probably benign Het
Lrrc15 A G 16: 30,092,566 (GRCm39) S258P probably damaging Het
Macc1 A T 12: 119,410,780 (GRCm39) Y516F probably benign Het
Megf6 A G 4: 154,343,630 (GRCm39) T718A probably benign Het
Mtcl2 A G 2: 156,862,612 (GRCm39) L1439P probably damaging Het
Myh1 A G 11: 67,111,445 (GRCm39) D1628G probably damaging Het
Naca C T 10: 127,879,162 (GRCm39) T1398I probably benign Het
Or1f12 A G 13: 21,721,416 (GRCm39) F238S possibly damaging Het
Or2a54 A T 6: 43,093,150 (GRCm39) H158L possibly damaging Het
Padi4 A G 4: 140,496,740 (GRCm39) V52A possibly damaging Het
Paqr5 G A 9: 61,863,527 (GRCm39) T251I probably damaging Het
Pcm1 A G 8: 41,768,967 (GRCm39) D1611G probably damaging Het
Prss12 G A 3: 123,276,445 (GRCm39) R358K probably benign Het
Rbm12b1 A G 4: 12,145,657 (GRCm39) H543R probably benign Het
Rc3h1 A T 1: 160,795,228 (GRCm39) N1076I probably damaging Het
Rp1 A G 1: 4,415,088 (GRCm39) L2008P possibly damaging Het
Rsph3a A G 17: 8,164,919 (GRCm39) H93R possibly damaging Het
Sbf1 C T 15: 89,172,915 (GRCm39) R1840H probably damaging Het
Skic8 T A 9: 54,630,219 (GRCm39) probably benign Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tbc1d9 T C 8: 83,937,085 (GRCm39) S56P probably damaging Het
Tiam2 A T 17: 3,561,346 (GRCm39) M1304L probably damaging Het
Tmprss11b G T 5: 86,819,753 (GRCm39) R9S probably damaging Het
Tnfrsf21 T A 17: 43,348,505 (GRCm39) I39N probably benign Het
Tnrc6b T C 15: 80,763,604 (GRCm39) S369P probably benign Het
Tpra1 T C 6: 88,887,372 (GRCm39) V217A probably benign Het
Uckl1 G C 2: 181,212,283 (GRCm39) probably benign Het
Vmn1r199 A T 13: 22,566,736 (GRCm39) Q10L probably benign Het
Vmn2r76 A G 7: 85,879,506 (GRCm39) S265P possibly damaging Het
Vwa5b1 A T 4: 138,321,662 (GRCm39) L377Q probably damaging Het
Wrap73 A G 4: 154,229,776 (GRCm39) D49G probably damaging Het
Zfp764 T A 7: 127,004,051 (GRCm39) Q360L possibly damaging Het
Zfp846 G A 9: 20,499,224 (GRCm39) probably benign Het
Zranb2 T C 3: 157,240,096 (GRCm39) I14T probably benign Het
Other mutations in Racgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Racgap1 APN 15 99,534,003 (GRCm39) unclassified probably benign
IGL01450:Racgap1 APN 15 99,524,244 (GRCm39) missense probably benign 0.00
IGL01907:Racgap1 APN 15 99,524,214 (GRCm39) nonsense probably null
IGL02584:Racgap1 APN 15 99,521,515 (GRCm39) missense probably benign 0.00
IGL02733:Racgap1 APN 15 99,537,585 (GRCm39) missense probably damaging 1.00
IGL03137:Racgap1 APN 15 99,526,622 (GRCm39) missense probably damaging 0.96
IGL03145:Racgap1 APN 15 99,521,521 (GRCm39) missense probably benign 0.00
IGL02799:Racgap1 UTSW 15 99,530,628 (GRCm39) missense probably benign 0.09
R0106:Racgap1 UTSW 15 99,540,839 (GRCm39) missense possibly damaging 0.66
R0106:Racgap1 UTSW 15 99,540,839 (GRCm39) missense possibly damaging 0.66
R0140:Racgap1 UTSW 15 99,521,532 (GRCm39) missense probably benign 0.00
R0398:Racgap1 UTSW 15 99,526,508 (GRCm39) splice site probably benign
R0496:Racgap1 UTSW 15 99,537,713 (GRCm39) splice site probably benign
R0893:Racgap1 UTSW 15 99,524,411 (GRCm39) missense probably benign
R0947:Racgap1 UTSW 15 99,522,195 (GRCm39) missense possibly damaging 0.83
R1348:Racgap1 UTSW 15 99,524,246 (GRCm39) missense possibly damaging 0.54
R1470:Racgap1 UTSW 15 99,537,656 (GRCm39) missense probably damaging 0.99
R1470:Racgap1 UTSW 15 99,537,656 (GRCm39) missense probably damaging 0.99
R1720:Racgap1 UTSW 15 99,526,650 (GRCm39) nonsense probably null
R2235:Racgap1 UTSW 15 99,524,417 (GRCm39) missense probably benign
R3624:Racgap1 UTSW 15 99,540,772 (GRCm39) missense probably damaging 0.97
R4621:Racgap1 UTSW 15 99,524,087 (GRCm39) missense probably benign 0.10
R4622:Racgap1 UTSW 15 99,524,087 (GRCm39) missense probably benign 0.10
R4623:Racgap1 UTSW 15 99,524,087 (GRCm39) missense probably benign 0.10
R5046:Racgap1 UTSW 15 99,526,643 (GRCm39) missense probably damaging 1.00
R5899:Racgap1 UTSW 15 99,521,509 (GRCm39) missense possibly damaging 0.80
R6306:Racgap1 UTSW 15 99,521,834 (GRCm39) missense probably benign
R6513:Racgap1 UTSW 15 99,522,156 (GRCm39) missense probably damaging 1.00
R6618:Racgap1 UTSW 15 99,521,875 (GRCm39) missense probably damaging 0.97
R6953:Racgap1 UTSW 15 99,524,210 (GRCm39) missense probably damaging 1.00
R7359:Racgap1 UTSW 15 99,529,081 (GRCm39) missense probably benign
R7463:Racgap1 UTSW 15 99,540,839 (GRCm39) missense probably benign
R8292:Racgap1 UTSW 15 99,520,127 (GRCm39) nonsense probably null
R8883:Racgap1 UTSW 15 99,526,540 (GRCm39) missense probably benign 0.00
R9227:Racgap1 UTSW 15 99,534,078 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- CGACCTGCTGTAGAAAGGTCCAAAC -3'
(R):5'- CATACACACTGTGCGCTTGATGC -3'

Sequencing Primer
(F):5'- ctgcctctgcctcctaaatg -3'
(R):5'- CTTGATGCATGTGGTTGACAATAAC -3'
Posted On 2013-06-12