Incidental Mutation 'R2134:Rabgap1'
ID 233614
Institutional Source Beutler Lab
Gene Symbol Rabgap1
Ensembl Gene ENSMUSG00000035437
Gene Name RAB GTPase activating protein 1
Synonyms Gapcena
MMRRC Submission 040137-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.239) question?
Stock # R2134 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 37333291-37456466 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 37453499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 976 (R976*)
Ref Sequence ENSEMBL: ENSMUSP00000108542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061179] [ENSMUST00000112920] [ENSMUST00000183690]
AlphaFold A2AWA9
Predicted Effect probably null
Transcript: ENSMUST00000061179
AA Change: R976*
SMART Domains Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: R976*

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 null
Transcript: ENSMUST00000112920
AA Change: R976*
SMART Domains Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: R976*

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,921,743 (GRCm39) V1437E probably null Het
Adam12 G A 7: 133,614,017 (GRCm39) R80* probably null Het
Adgrb3 G T 1: 25,133,038 (GRCm39) F479L probably damaging Het
Atf7ip T A 6: 136,582,485 (GRCm39) V1165E possibly damaging Het
Atm C T 9: 53,379,264 (GRCm39) probably null Het
Atp11c A G X: 59,322,143 (GRCm39) Y593H probably damaging Het
Btnl1 A G 17: 34,604,608 (GRCm39) D463G possibly damaging Het
Cdc34b T G 11: 94,633,252 (GRCm39) W151G probably damaging Het
Cdkal1 A G 13: 29,538,660 (GRCm39) S500P possibly damaging Het
Cenpf T C 1: 189,390,839 (GRCm39) N998D probably benign Het
Ces2e T A 8: 105,659,171 (GRCm39) probably null Het
Chd7 A G 4: 8,753,147 (GRCm39) Q548R probably damaging Het
Chfr T A 5: 110,292,627 (GRCm39) probably null Het
Clu A G 14: 66,212,290 (GRCm39) probably null Het
Cntnap5c A G 17: 58,714,717 (GRCm39) D1235G probably damaging Het
Col6a4 T C 9: 105,943,860 (GRCm39) S1205G probably benign Het
Ddx47 G T 6: 134,992,313 (GRCm39) E113* probably null Het
Dock4 A G 12: 40,795,667 (GRCm39) Y828C probably benign Het
Dync1h1 T A 12: 110,623,065 (GRCm39) N3553K possibly damaging Het
Egflam C T 15: 7,263,760 (GRCm39) C730Y probably damaging Het
Fam83b T C 9: 76,398,298 (GRCm39) Y935C probably damaging Het
Fam83g A G 11: 61,594,510 (GRCm39) I681M probably benign Het
Fastk T C 5: 24,650,139 (GRCm39) R3G probably damaging Het
Fxr1 A T 3: 34,112,196 (GRCm39) E367D probably damaging Het
Gatb A G 3: 85,518,677 (GRCm39) D261G probably damaging Het
Gm5617 T C 9: 48,407,117 (GRCm39) S84P possibly damaging Het
Hecw1 C T 13: 14,552,285 (GRCm39) E104K probably damaging Het
Il31ra T C 13: 112,680,422 (GRCm39) K265R possibly damaging Het
Khsrp GTCATT GT 17: 57,331,410 (GRCm39) probably null Het
Lrp2 T A 2: 69,341,411 (GRCm39) D923V probably damaging Het
Ltn1 A G 16: 87,179,601 (GRCm39) L1520P probably damaging Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Map1s T G 8: 71,366,526 (GRCm39) V477G probably benign Het
Mical1 T C 10: 41,358,708 (GRCm39) L542P probably damaging Het
Mtcl3 T A 10: 29,072,395 (GRCm39) Y562* probably null Het
Mycbp2 T C 14: 103,446,329 (GRCm39) Y1800C probably damaging Het
Mylk A T 16: 34,806,846 (GRCm39) D1697V probably benign Het
Nlrp1a A T 11: 71,015,014 (GRCm39) F79I probably benign Het
Or52d3 T C 7: 104,228,848 (GRCm39) probably benign Het
Pde9a A G 17: 31,605,284 (GRCm39) Y6C probably damaging Het
Plxnd1 A T 6: 115,934,509 (GRCm39) I1808N probably damaging Het
Ppp1r13b T A 12: 111,800,167 (GRCm39) T537S probably benign Het
Ppp2r2a A G 14: 67,253,924 (GRCm39) F415L possibly damaging Het
Rbfox3 T C 11: 118,387,842 (GRCm39) H195R probably damaging Het
Ripk4 A T 16: 97,544,933 (GRCm39) D571E probably damaging Het
Sdhaf4 T A 1: 24,044,634 (GRCm39) R16S probably benign Het
Slc17a1 G T 13: 24,059,658 (GRCm39) G130* probably null Het
Slc6a1 G T 6: 114,278,977 (GRCm39) A23S probably benign Het
Slco1a8 T C 6: 141,926,704 (GRCm39) I541V probably damaging Het
Spock1 T A 13: 57,583,952 (GRCm39) Q321L probably damaging Het
Syne2 A G 12: 75,999,560 (GRCm39) I2318V probably damaging Het
Terf2ip T C 8: 112,738,271 (GRCm39) V53A possibly damaging Het
Thrb T C 14: 18,033,487 (GRCm38) F403L probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Uqcrfs1 T C 13: 30,724,787 (GRCm39) K251R probably benign Het
Vmn2r111 T C 17: 22,792,085 (GRCm39) E57G possibly damaging Het
Vmn2r114 T A 17: 23,510,737 (GRCm39) Y581F probably damaging Het
Vps13d A G 4: 144,874,909 (GRCm39) V1866A probably benign Het
Washc5 A T 15: 59,241,083 (GRCm39) F84Y probably damaging Het
Yars1 T A 4: 129,090,992 (GRCm39) Y28* probably null Het
Zfp638 A G 6: 83,905,964 (GRCm39) Y43C probably damaging Het
Zfp750 T A 11: 121,404,758 (GRCm39) H39L probably damaging Het
Zfr2 C A 10: 81,078,735 (GRCm39) S322R probably damaging Het
Zzef1 A G 11: 72,771,450 (GRCm39) D1644G probably benign 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
R1598:Rabgap1 UTSW 2 37,451,911 (GRCm39) missense probably damaging 1.00
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
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'- CAACCAGGTAGTCTTTGAAGTAGG -3'
(R):5'- GGTGTTTCTAGTCCATCCCG -3'

Sequencing Primer
(F):5'- AGGTTGTCTGACATTTTTCCAAG -3'
(R):5'- CCCGTAAATTTGACTGTTAAAGGGG -3'
Posted On 2014-10-01