Incidental Mutation 'R9210:Rabgap1'
ID 698762
Institutional Source Beutler Lab
Gene Symbol Rabgap1
Ensembl Gene ENSMUSG00000035437
Gene Name RAB GTPase activating protein 1
Synonyms Gapcena
MMRRC Submission 068983-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.239) question?
Stock # R9210 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 37333291-37456466 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37377152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 328 (V328A)
Ref Sequence ENSEMBL: ENSMUSP00000061624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061179] [ENSMUST00000066055] [ENSMUST00000112920] [ENSMUST00000133434] [ENSMUST00000183690]
AlphaFold A2AWA9
Predicted Effect probably damaging
Transcript: ENSMUST00000061179
AA Change: V328A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: V328A

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 possibly damaging
Transcript: ENSMUST00000066055
AA Change: V328A

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437
AA Change: V328A

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
PTB 138 271 2.99e-30 SMART
Pfam:DUF3694 301 433 7.1e-39 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
Predicted Effect probably damaging
Transcript: ENSMUST00000112920
AA Change: V328A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: V328A

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 probably damaging
Transcript: ENSMUST00000133434
AA Change: V328A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121963
Gene: ENSMUSG00000035437
AA Change: V328A

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
PTB 138 271 2.99e-30 SMART
Pfam:DUF3694 301 433 7.2e-39 PFAM
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
Meta Mutation Damage Score 0.2013 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A G 10: 76,287,165 (GRCm39) D40G probably damaging Het
Aass T C 6: 23,075,767 (GRCm39) D790G probably damaging Het
Abcb4 C T 5: 9,005,591 (GRCm39) P1158L probably damaging Het
Acod1 T C 14: 103,292,526 (GRCm39) V350A possibly damaging Het
Acot2 C A 12: 84,034,851 (GRCm39) P59Q probably damaging Het
Acyp1 A T 12: 85,326,820 (GRCm39) V10E possibly damaging Het
Adhfe1 A T 1: 9,637,036 (GRCm39) D396V possibly damaging Het
Agbl3 C T 6: 34,775,177 (GRCm39) T161I probably damaging Het
Ang6 T C 14: 44,239,407 (GRCm39) N107S probably benign Het
Arhgap28 A G 17: 68,162,430 (GRCm39) M639T probably benign Het
Arpc5 A G 1: 152,642,603 (GRCm39) D43G probably null Het
Asxl3 T C 18: 22,655,389 (GRCm39) I1133T probably benign Het
Atp7b T C 8: 22,487,406 (GRCm39) D1303G probably damaging Het
C2cd4b G A 9: 67,667,028 (GRCm39) R8H probably damaging Het
Catsper1 T A 19: 5,391,535 (GRCm39) V639E probably benign Het
Cbr1b A C 16: 93,427,127 (GRCm39) S243R possibly damaging Het
Ccdc113 T C 8: 96,283,874 (GRCm39) F316S probably damaging Het
Ccdc91 A G 6: 147,508,398 (GRCm39) I375V unknown Het
Cfap65 G A 1: 74,959,567 (GRCm39) T861I probably benign Het
Chd1 T G 17: 15,950,767 (GRCm39) S153A possibly damaging Het
Cln6 A G 9: 62,757,973 (GRCm39) H244R probably damaging Het
Cnn2 A T 10: 79,828,373 (GRCm39) M117L probably benign Het
Col19a1 A T 1: 24,500,555 (GRCm39) probably null Het
Csgalnact1 T C 8: 68,914,241 (GRCm39) probably benign Het
Dhx57 T G 17: 80,576,338 (GRCm39) D584A probably damaging Het
Dnaaf2 G A 12: 69,244,602 (GRCm39) A153V probably damaging Het
Egfem1 T G 3: 29,207,743 (GRCm39) C144W probably damaging Het
Ercc6 T A 14: 32,291,822 (GRCm39) I1062N probably benign Het
Ermap A T 4: 119,035,706 (GRCm39) C427* probably null Het
Fam193a T C 5: 34,597,481 (GRCm39) V94A probably benign Het
Fbxl14 T C 6: 119,457,635 (GRCm39) M272T probably benign Het
Grm7 T A 6: 110,622,869 (GRCm39) M14K probably benign Het
Herc6 A G 6: 57,639,350 (GRCm39) Y906C probably damaging Het
Hps4 C A 5: 112,497,227 (GRCm39) T70N possibly damaging Het
Hspg2 A G 4: 137,289,790 (GRCm39) H3880R probably benign Het
Hus1b A C 13: 31,130,858 (GRCm39) I267S possibly damaging Het
Igkv13-84 G T 6: 68,916,886 (GRCm39) G61V probably damaging Het
Mrgprb2 A T 7: 48,202,392 (GRCm39) V111D possibly damaging Het
Mta3 A T 17: 84,015,846 (GRCm39) N16I probably damaging Het
Mtus2 T A 5: 148,014,124 (GRCm39) S306T probably benign Het
Ncl G A 1: 86,280,239 (GRCm39) P523S probably benign Het
Npepps G T 11: 97,129,047 (GRCm39) A379E probably damaging Het
Ntng1 A T 3: 109,779,633 (GRCm39) C315S probably damaging Het
Nyap2 C T 1: 81,219,042 (GRCm39) P355S probably damaging Het
Or5p54 C A 7: 107,554,017 (GRCm39) H56Q probably benign Het
Orc2 A G 1: 58,515,695 (GRCm39) L271P probably damaging Het
Pck2 G A 14: 55,779,907 (GRCm39) R52H probably benign Het
Pikfyve T C 1: 65,291,719 (GRCm39) S1313P probably damaging Het
Pink1 A G 4: 138,053,278 (GRCm39) F85L probably benign Het
Ppp2r3d T C 9: 101,063,175 (GRCm39) T154A probably benign Het
Prkg2 T C 5: 99,095,333 (GRCm39) T613A probably damaging Het
Ptprz1 A G 6: 23,050,493 (GRCm39) M2254V probably damaging Het
Rag1 T C 2: 101,474,852 (GRCm39) S97G probably benign Het
Rai1 C T 11: 60,080,217 (GRCm39) P1427L probably benign Het
Rrp15 G C 1: 186,471,922 (GRCm39) A95G probably damaging Het
Rttn T C 18: 89,064,286 (GRCm39) probably null Het
Ryr2 A C 13: 11,844,560 (GRCm39) I392S probably damaging Het
Scoc T C 8: 84,162,543 (GRCm39) K121R possibly damaging Het
Septin5 A T 16: 18,442,961 (GRCm39) I206K possibly damaging Het
Sh2d2a C A 3: 87,756,655 (GRCm39) L167I probably damaging Het
Slc5a2 C A 7: 127,867,939 (GRCm39) Q202K probably damaging Het
Slco4a1 A T 2: 180,114,271 (GRCm39) S518C probably damaging Het
Tbc1d2b A T 9: 90,087,183 (GRCm39) L932Q possibly damaging Het
Tex15 T A 8: 34,064,319 (GRCm39) Y1250N possibly damaging Het
Tln1 G T 4: 43,536,119 (GRCm39) T2022K probably damaging Het
Trpc4 T A 3: 54,173,741 (GRCm39) F378L probably benign Het
Ush2a A T 1: 188,516,866 (GRCm39) Q3192L probably null Het
Usp40 A T 1: 87,885,035 (GRCm39) W938R possibly damaging Het
Wdr24 T C 17: 26,043,472 (GRCm39) V98A probably benign Het
Zfp280d A G 9: 72,269,789 (GRCm39) *975W probably null Het
Zfp317 A T 9: 19,558,442 (GRCm39) K219* probably null Het
Zfp986 A G 4: 145,625,798 (GRCm39) K153E probably benign Het
Zmiz2 T A 11: 6,346,277 (GRCm39) S71T possibly 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
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
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
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'- CTTGCTATTACTTGTAAACCAGAGG -3'
(R):5'- CTTTTCCTGGGCTAAGGAGAAG -3'

Sequencing Primer
(F):5'- TTACTTGTAAACCAGAGGAAAGAATC -3'
(R):5'- GTGATTTTGAGAGTAAGAAACACTGC -3'
Posted On 2022-02-07