Incidental Mutation 'R1598:Rabgap1'
ID 175921
Institutional Source Beutler Lab
Gene Symbol Rabgap1
Ensembl Gene ENSMUSG00000035437
Gene Name RAB GTPase activating protein 1
Synonyms Gapcena
MMRRC Submission 039635-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.239) question?
Stock # R1598 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 37333291-37456466 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37451911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 937 (S937F)
Ref Sequence ENSEMBL: ENSMUSP00000108542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061179] [ENSMUST00000112920] [ENSMUST00000183690]
AlphaFold A2AWA9
Predicted Effect probably damaging
Transcript: ENSMUST00000061179
AA Change: S937F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: S937F

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
PTB 138 271 2.99e-30 SMART
Pfam:DUF3694 301 433 1.1e-38 PFAM
low complexity region 449 460 N/A INTRINSIC
low complexity region 473 481 N/A INTRINSIC
low complexity region 502 516 N/A INTRINSIC
TBC 558 770 9.27e-74 SMART
Blast:TBC 803 880 9e-33 BLAST
coiled coil region 986 1038 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112920
AA Change: S937F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: S937F

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
PTB 138 271 2.99e-30 SMART
Pfam:DUF3694 301 432 1.6e-35 PFAM
low complexity region 449 460 N/A INTRINSIC
low complexity region 473 481 N/A INTRINSIC
low complexity region 502 516 N/A INTRINSIC
TBC 558 770 9.27e-74 SMART
Blast:TBC 803 880 9e-33 BLAST
coiled coil region 986 1038 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159092
Predicted Effect probably benign
Transcript: ENSMUST00000183690
SMART Domains Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915

DomainStartEndE-ValueType
DZF 81 334 2.45e-168 SMART
DSRM 388 452 3.11e-16 SMART
low complexity region 474 497 N/A INTRINSIC
DSRM 511 575 1.2e-22 SMART
low complexity region 578 593 N/A INTRINSIC
low complexity region 608 618 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik G A 11: 80,254,838 (GRCm39) Q328* probably null Het
Aadacl4fm4 T A 4: 144,396,994 (GRCm39) K246I possibly damaging Het
Adamts1 G A 16: 85,595,399 (GRCm39) Q260* probably null Het
Add2 A T 6: 86,075,628 (GRCm39) Y259F probably benign Het
Bora T C 14: 99,305,840 (GRCm39) V403A probably benign Het
Ccnl1 G A 3: 65,854,191 (GRCm39) R477W probably damaging Het
Cdc25a CG CGG 9: 109,708,961 (GRCm39) probably null Het
Cdr2l T C 11: 115,284,203 (GRCm39) S180P probably damaging Het
Cep290 T A 10: 100,385,191 (GRCm39) L1889Q probably damaging Het
Ces4a T C 8: 105,869,453 (GRCm39) V208A probably damaging Het
Col2a1 T C 15: 97,877,131 (GRCm39) D1049G probably damaging Het
Coro1a A T 7: 126,300,864 (GRCm39) N154K possibly damaging Het
Cubn T A 2: 13,474,600 (GRCm39) R401S probably benign Het
Cul7 A T 17: 46,974,017 (GRCm39) Q1434L probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dars1 G T 1: 128,301,709 (GRCm39) D308E probably benign Het
Dna2 T A 10: 62,797,436 (GRCm39) F604I probably damaging Het
Dnah1 T G 14: 31,023,219 (GRCm39) I1033L probably benign Het
Erlin1 T C 19: 44,036,112 (GRCm39) E206G probably damaging Het
Esrp2 T A 8: 106,859,905 (GRCm39) E345D probably damaging Het
Foxa1 T C 12: 57,589,473 (GRCm39) D249G possibly damaging Het
Ghsr C A 3: 27,426,426 (GRCm39) L161M probably benign Het
Gm57858 C T 3: 36,073,146 (GRCm39) A379T probably damaging Het
Gpr155 C A 2: 73,200,434 (GRCm39) V358F probably damaging Het
H2-Eb2 A T 17: 34,553,348 (GRCm39) N178I probably damaging Het
Hydin T A 8: 111,137,306 (GRCm39) I703N possibly damaging Het
Kctd15 A G 7: 34,341,417 (GRCm39) V170A probably damaging Het
Klhl31 A T 9: 77,558,298 (GRCm39) Y338F possibly damaging Het
Krt5 C T 15: 101,620,876 (GRCm39) A124T probably benign Het
Krt72 T A 15: 101,688,688 (GRCm39) I331F probably benign Het
Lrp1b T A 2: 41,401,490 (GRCm39) D388V probably damaging Het
Ly9 A G 1: 171,424,075 (GRCm39) V382A probably benign Het
Mon2 T C 10: 122,852,301 (GRCm39) Y1024C probably damaging Het
Myh14 A G 7: 44,287,818 (GRCm39) F572L probably damaging Het
Myh3 A T 11: 66,983,997 (GRCm39) D987V probably damaging Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nphp4 A G 4: 152,646,547 (GRCm39) T1360A probably benign Het
Oog4 A G 4: 143,164,571 (GRCm39) L320P probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5m9 C T 2: 85,877,657 (GRCm39) T277I probably damaging Het
Or5w8 T A 2: 87,688,095 (GRCm39) I192K probably benign Het
Pcnx2 T C 8: 126,498,825 (GRCm39) N1558S probably benign Het
Pde10a A G 17: 9,147,976 (GRCm39) E147G probably damaging Het
Pgbd5 T A 8: 125,101,026 (GRCm39) H410L probably benign Het
Plce1 A C 19: 38,709,440 (GRCm39) D1098A probably damaging Het
Psg25 G A 7: 18,265,928 (GRCm39) Q16* probably null Het
Psmd9 T A 5: 123,379,980 (GRCm39) V133E probably damaging Het
Rbck1 A G 2: 152,165,090 (GRCm39) probably null Het
Rprd2 C G 3: 95,726,051 (GRCm39) probably benign Het
Rrs1 A G 1: 9,616,137 (GRCm39) N130S probably benign Het
Scmh1 A T 4: 120,372,327 (GRCm39) I377F possibly damaging Het
Skor1 G T 9: 63,053,286 (GRCm39) R228S probably damaging Het
Slc2a4 A G 11: 69,835,844 (GRCm39) V335A probably benign Het
Slc4a9 G A 18: 36,661,424 (GRCm39) W62* probably null Het
Styxl2 G A 1: 165,937,828 (GRCm39) T77I probably benign Het
Taar9 G T 10: 23,985,305 (GRCm39) A43D possibly damaging Het
Tns4 T C 11: 98,961,243 (GRCm39) Y645C probably damaging Het
Tpcn2 G T 7: 144,830,957 (GRCm39) Y129* probably null Het
Trpm3 T C 19: 22,710,388 (GRCm39) S278P possibly damaging Het
Ttc3 T C 16: 94,223,156 (GRCm39) W615R probably damaging Het
Ttll5 T C 12: 85,910,372 (GRCm39) V207A probably damaging Het
Ubr7 G T 12: 102,736,153 (GRCm39) M358I probably damaging Het
Urb1 C A 16: 90,574,328 (GRCm39) V918F possibly damaging Het
Vmn2r51 G A 7: 9,839,432 (GRCm39) T52I probably benign Het
Vmn2r95 A T 17: 18,672,575 (GRCm39) I771F probably benign Het
Wfdc16 T C 2: 164,477,350 (GRCm39) S107G probably benign Het
Zmym2 A G 14: 57,140,226 (GRCm39) T22A possibly damaging Het
Zmym2 G A 14: 57,151,524 (GRCm39) G470R probably damaging Het
Other mutations in Rabgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Rabgap1 APN 2 37,359,558 (GRCm39) missense probably damaging 1.00
IGL01456:Rabgap1 APN 2 37,431,187 (GRCm39) missense probably damaging 0.99
IGL01599:Rabgap1 APN 2 37,446,281 (GRCm39) missense probably damaging 1.00
IGL01834:Rabgap1 APN 2 37,454,773 (GRCm39) intron probably benign
IGL01940:Rabgap1 APN 2 37,377,079 (GRCm39) missense probably damaging 1.00
IGL02416:Rabgap1 APN 2 37,451,962 (GRCm39) missense probably benign 0.00
IGL02683:Rabgap1 APN 2 37,392,951 (GRCm39) missense probably damaging 1.00
IGL02755:Rabgap1 APN 2 37,427,326 (GRCm39) missense probably damaging 0.98
IGL02999:Rabgap1 APN 2 37,373,838 (GRCm39) missense possibly damaging 0.56
IGL03144:Rabgap1 APN 2 37,430,544 (GRCm39) missense probably damaging 0.99
Dread UTSW 2 37,427,319 (GRCm39) nonsense probably null
Evanescence UTSW 2 37,422,627 (GRCm39) missense probably damaging 1.00
foreboding UTSW 2 37,422,531 (GRCm39) missense probably damaging 1.00
Temporality UTSW 2 37,377,152 (GRCm39) missense probably damaging 0.96
IGL02796:Rabgap1 UTSW 2 37,362,318 (GRCm39) missense probably damaging 0.99
R0117:Rabgap1 UTSW 2 37,451,897 (GRCm39) splice site probably null
R0455:Rabgap1 UTSW 2 37,377,132 (GRCm39) missense probably damaging 1.00
R0569:Rabgap1 UTSW 2 37,379,729 (GRCm39) intron probably benign
R0586:Rabgap1 UTSW 2 37,433,235 (GRCm39) missense probably benign
R0962:Rabgap1 UTSW 2 37,450,481 (GRCm39) intron probably benign
R1055:Rabgap1 UTSW 2 37,382,080 (GRCm39) missense possibly damaging 0.91
R1086:Rabgap1 UTSW 2 37,359,458 (GRCm39) missense probably damaging 0.99
R1251:Rabgap1 UTSW 2 37,433,246 (GRCm39) splice site probably null
R1924:Rabgap1 UTSW 2 37,385,771 (GRCm39) critical splice donor site probably null
R1957:Rabgap1 UTSW 2 37,373,774 (GRCm39) missense possibly damaging 0.93
R2134:Rabgap1 UTSW 2 37,453,499 (GRCm39) nonsense probably null
R2154:Rabgap1 UTSW 2 37,365,453 (GRCm39) missense probably damaging 1.00
R4328:Rabgap1 UTSW 2 37,422,627 (GRCm39) missense probably damaging 1.00
R4351:Rabgap1 UTSW 2 37,373,794 (GRCm39) missense probably benign
R4658:Rabgap1 UTSW 2 37,377,561 (GRCm39) nonsense probably null
R4821:Rabgap1 UTSW 2 37,422,531 (GRCm39) missense probably damaging 1.00
R4897:Rabgap1 UTSW 2 37,450,583 (GRCm39) missense probably benign 0.01
R5014:Rabgap1 UTSW 2 37,377,152 (GRCm39) missense probably damaging 1.00
R5252:Rabgap1 UTSW 2 37,365,369 (GRCm39) missense probably benign 0.11
R5392:Rabgap1 UTSW 2 37,359,501 (GRCm39) missense probably damaging 1.00
R5794:Rabgap1 UTSW 2 37,392,914 (GRCm39) missense probably benign 0.03
R5941:Rabgap1 UTSW 2 37,451,908 (GRCm39) missense possibly damaging 0.62
R6002:Rabgap1 UTSW 2 37,363,614 (GRCm39) missense probably benign 0.05
R6209:Rabgap1 UTSW 2 37,453,610 (GRCm39) nonsense probably null
R6317:Rabgap1 UTSW 2 37,432,659 (GRCm39) missense possibly damaging 0.88
R7011:Rabgap1 UTSW 2 37,430,492 (GRCm39) missense probably damaging 1.00
R7014:Rabgap1 UTSW 2 37,450,575 (GRCm39) missense probably benign 0.08
R7514:Rabgap1 UTSW 2 37,427,354 (GRCm39) missense probably damaging 1.00
R7543:Rabgap1 UTSW 2 37,359,444 (GRCm39) missense probably damaging 0.99
R7599:Rabgap1 UTSW 2 37,392,908 (GRCm39) frame shift probably null
R7709:Rabgap1 UTSW 2 37,427,339 (GRCm39) missense possibly damaging 0.89
R7784:Rabgap1 UTSW 2 37,377,544 (GRCm39) missense possibly damaging 0.91
R7816:Rabgap1 UTSW 2 37,453,476 (GRCm39) missense probably benign 0.01
R7834:Rabgap1 UTSW 2 37,359,419 (GRCm39) intron probably benign
R7869:Rabgap1 UTSW 2 37,377,142 (GRCm39) missense probably benign 0.31
R7888:Rabgap1 UTSW 2 37,427,319 (GRCm39) nonsense probably null
R7949:Rabgap1 UTSW 2 37,453,491 (GRCm39) missense probably benign 0.44
R8084:Rabgap1 UTSW 2 37,427,317 (GRCm39) missense probably damaging 1.00
R8333:Rabgap1 UTSW 2 37,385,710 (GRCm39) missense probably benign
R8440:Rabgap1 UTSW 2 37,432,692 (GRCm39) critical splice donor site probably null
R9210:Rabgap1 UTSW 2 37,377,152 (GRCm39) missense probably damaging 0.96
R9212:Rabgap1 UTSW 2 37,377,152 (GRCm39) missense probably damaging 0.96
R9574:Rabgap1 UTSW 2 37,433,246 (GRCm39) splice site probably null
Z1176:Rabgap1 UTSW 2 37,450,556 (GRCm39) missense probably benign 0.06
Z1177:Rabgap1 UTSW 2 37,359,540 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCAGAGTGCCCAGCATATAGGAG -3'
(R):5'- TGAATTAAGAATCCCCGCCTCAAGC -3'

Sequencing Primer
(F):5'- GGAGTCTGAATATTAGCAAACCAC -3'
(R):5'- GTTGTTGAACCTGAACCAGGC -3'
Posted On 2014-04-24