Incidental Mutation 'R4351:Rabgap1'
ID 328497
Institutional Source Beutler Lab
Gene Symbol Rabgap1
Ensembl Gene ENSMUSG00000035437
Gene Name RAB GTPase activating protein 1
Synonyms Gapcena
MMRRC Submission 041106-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.239) question?
Stock # R4351 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 37333291-37456466 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37373794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 269 (T269A)
Ref Sequence ENSEMBL: ENSMUSP00000121963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061179] [ENSMUST00000066055] [ENSMUST00000112920] [ENSMUST00000133434] [ENSMUST00000183690]
AlphaFold A2AWA9
Predicted Effect probably benign
Transcript: ENSMUST00000061179
AA Change: T269A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: T269A

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 benign
Transcript: ENSMUST00000066055
AA Change: T269A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437
AA Change: T269A

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 benign
Transcript: ENSMUST00000112920
AA Change: T269A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: T269A

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 benign
Transcript: ENSMUST00000133434
AA Change: T269A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121963
Gene: ENSMUSG00000035437
AA Change: T269A

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 noncoding transcript
Transcript: ENSMUST00000153145
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203017
Meta Mutation Damage Score 0.0582 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Aak1 A G 6: 86,912,519 (GRCm39) probably null Het
Abtb2 T A 2: 103,513,738 (GRCm39) D382E possibly damaging Het
Adamts1 T A 16: 85,599,234 (GRCm39) D122V probably benign Het
Adcy6 A T 15: 98,502,041 (GRCm39) V191E probably benign Het
Adh1 A G 3: 137,986,258 (GRCm39) T82A probably benign Het
Ak6 C T 13: 100,792,111 (GRCm39) Q185* probably null Het
Aldh6a1 A G 12: 84,490,535 (GRCm39) Y27H probably benign Het
Apob A G 12: 8,043,054 (GRCm39) M812V probably benign Het
Arhgef10 C A 8: 15,041,145 (GRCm39) S748* probably null Het
Brd3 A T 2: 27,347,028 (GRCm39) Y369N probably damaging Het
Cracdl A G 1: 37,663,993 (GRCm39) F635S probably benign Het
Dhh A G 15: 98,796,099 (GRCm39) probably benign Het
Disp1 A G 1: 182,881,542 (GRCm39) V200A probably benign Het
Dvl3 T C 16: 20,344,394 (GRCm39) Y257H possibly damaging Het
Dzip1 T C 14: 119,120,938 (GRCm39) D673G probably benign Het
Evx1 A G 6: 52,290,846 (GRCm39) D6G probably damaging Het
Garin1b C G 6: 29,320,800 (GRCm39) I141M probably damaging Het
Gfy T C 7: 44,827,040 (GRCm39) E352G probably benign Het
Hars2 A G 18: 36,919,231 (GRCm39) E123G probably damaging Het
Hsd17b4 A T 18: 50,275,701 (GRCm39) D115V probably damaging Het
Lyn G A 4: 3,789,796 (GRCm39) R443H probably damaging Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Nckap1l A G 15: 103,395,246 (GRCm39) T909A probably damaging Het
Ncor1 A G 11: 62,301,644 (GRCm39) probably null Het
Nrp2 A G 1: 62,777,576 (GRCm39) D127G probably damaging Het
Or2v2 A G 11: 49,004,530 (GRCm39) S8P probably damaging Het
Or8g52 T A 9: 39,630,865 (GRCm39) M114K probably damaging Het
Prb1b T G 6: 132,290,624 (GRCm39) Y25S unknown Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Rnf31 AAC A 14: 55,838,555 (GRCm39) probably null Het
Sptbn5 T C 2: 119,913,680 (GRCm39) noncoding transcript Het
Sst A G 16: 23,708,565 (GRCm39) S89P probably damaging Het
Tm2d3 A G 7: 65,344,939 (GRCm39) Y49C probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Wdr81 A G 11: 75,332,638 (GRCm39) L1921P 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
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
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'- AACTGCTGTTCTGAACTGTATCC -3'
(R):5'- GCATAAACGTATTCCCTGTAGAAG -3'

Sequencing Primer
(F):5'- GCTGTTCTGAACTGTATCCTTAAAAG -3'
(R):5'- AGTCTGACCTAGTTTCTTCTGTAC -3'
Posted On 2015-07-07