Incidental Mutation 'R4821:Rabgap1'
ID 370198
Institutional Source Beutler Lab
Gene Symbol Rabgap1
Ensembl Gene ENSMUSG00000035437
Gene Name RAB GTPase activating protein 1
Synonyms Gapcena
MMRRC Submission 042437-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.239) question?
Stock # R4821 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 37333291-37456466 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37422531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 595 (S595P)
Ref Sequence ENSEMBL: ENSMUSP00000108542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061179] [ENSMUST00000066055] [ENSMUST00000112920] [ENSMUST00000183690]
AlphaFold A2AWA9
Predicted Effect probably damaging
Transcript: ENSMUST00000061179
AA Change: S595P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: S595P

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: ENSMUST00000066055
AA Change: S595P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437
AA Change: S595P

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: S595P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: S595P

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
Meta Mutation Damage Score 0.1522 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,871 (GRCm39) K150R probably damaging Het
Aak1 T C 6: 86,827,171 (GRCm39) V46A probably damaging Het
Abcb9 T C 5: 124,228,212 (GRCm39) T10A probably benign Het
Acaca A G 11: 84,185,813 (GRCm39) D116G possibly damaging Het
Adam33 G A 2: 130,903,115 (GRCm39) P43L probably benign Het
Adamtsl2 T A 2: 26,988,604 (GRCm39) probably null Het
Akap13 A G 7: 75,327,255 (GRCm39) probably benign Het
Art1 T A 7: 101,756,385 (GRCm39) L192Q probably damaging Het
Baalc A G 15: 38,796,575 (GRCm39) probably benign Het
Baz2a A G 10: 127,946,978 (GRCm39) E164G probably damaging Het
Bcs1l A G 1: 74,631,144 (GRCm39) I391V probably benign Het
Cacna1c T C 6: 118,673,386 (GRCm39) T497A probably damaging Het
Cap2 C A 13: 46,763,586 (GRCm39) T164N probably damaging Het
Ccdc57 A G 11: 120,751,225 (GRCm39) probably null Het
Ccdc88c T C 12: 100,904,338 (GRCm39) N1120S probably benign Het
Cfap210 T C 2: 69,612,452 (GRCm39) E96G possibly damaging Het
Chd7 T A 4: 8,844,706 (GRCm39) V1605D probably damaging Het
Col12a1 A T 9: 79,622,622 (GRCm39) probably benign Het
Commd3 T C 2: 18,677,339 (GRCm39) S22P probably benign Het
Cpd T C 11: 76,737,063 (GRCm39) I244V probably benign Het
Cpeb2 C A 5: 43,390,817 (GRCm39) probably benign Het
Cyp2c65 A G 19: 39,060,635 (GRCm39) D165G probably damaging Het
Ddx1 T C 12: 13,289,148 (GRCm39) Y152C probably damaging Het
Dennd4a G A 9: 64,804,531 (GRCm39) C1290Y possibly damaging Het
Ebf4 G A 2: 130,148,965 (GRCm39) M232I probably benign Het
Farp2 A G 1: 93,502,192 (GRCm39) probably null Het
Frk T C 10: 34,360,233 (GRCm39) V78A probably benign Het
Gm5799 A G 14: 43,782,098 (GRCm39) D90G probably damaging Het
Gpr45 C G 1: 43,069,613 (GRCm39) probably benign Het
Hfm1 C T 5: 107,002,606 (GRCm39) probably null Het
Igkv4-57-1 T A 6: 69,521,387 (GRCm39) D105V probably damaging Het
Impdh2-ps A G 8: 100,757,995 (GRCm39) noncoding transcript Het
Kctd4 G A 14: 76,200,217 (GRCm39) V63I probably benign Het
Lcn6 T A 2: 25,570,822 (GRCm39) L137M probably damaging Het
Lonrf1 T C 8: 36,687,126 (GRCm39) N737D probably benign Het
Mcu C T 10: 59,303,511 (GRCm39) V109M probably damaging Het
Mecom C A 3: 30,039,500 (GRCm39) K186N probably damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Mybpc1 T C 10: 88,384,727 (GRCm39) D533G probably damaging Het
Nae1 A C 8: 105,246,416 (GRCm39) C294G probably damaging Het
Ncapg2 T G 12: 116,379,077 (GRCm39) H190Q probably damaging Het
Nkx2-2 A T 2: 147,027,763 (GRCm39) L59Q possibly damaging Het
Nrxn3 C T 12: 90,171,483 (GRCm39) T295I probably damaging Het
Obscn C T 11: 58,897,652 (GRCm39) probably benign Het
Obscn A T 11: 58,931,293 (GRCm39) M5781K probably damaging Het
Or11g24 A G 14: 50,662,206 (GRCm39) T77A possibly damaging Het
Or4k39 T C 2: 111,239,570 (GRCm39) noncoding transcript Het
Or4z4 T A 19: 12,076,110 (GRCm39) M298L probably benign Het
Pcdhb6 C A 18: 37,467,381 (GRCm39) P101T probably damaging Het
Pot1b A G 17: 55,979,885 (GRCm39) S324P possibly damaging Het
Potefam1 T C 2: 111,034,490 (GRCm39) probably null Het
Ppcdc C T 9: 57,342,194 (GRCm39) V43I probably benign Het
Prr13 A T 15: 102,369,120 (GRCm39) probably benign Het
Rab10os T A 12: 3,287,322 (GRCm39) noncoding transcript Het
Rap1gap T C 4: 137,439,440 (GRCm39) S126P probably damaging Het
Rgs6 A T 12: 83,114,185 (GRCm39) probably null Het
Slc5a6 T A 5: 31,194,228 (GRCm39) K610* probably null Het
Sun5 C T 2: 153,711,386 (GRCm39) V27I probably benign Het
Tmco5b T C 2: 113,120,102 (GRCm39) I126T probably benign Het
Tmed7 G A 18: 46,726,480 (GRCm39) Q92* probably null Het
Trav7d-2 A G 14: 52,921,885 (GRCm39) D98G probably benign Het
Trbv16 T A 6: 41,128,936 (GRCm39) L40Q probably damaging Het
Ush2a T C 1: 188,485,848 (GRCm39) V2986A probably benign Het
Usp33 T C 3: 152,064,310 (GRCm39) V58A probably benign Het
Vmn2r94 T A 17: 18,477,293 (GRCm39) M373L probably benign Het
Ywhaq T C 12: 21,467,512 (GRCm39) probably benign Het
Zbbx G A 3: 74,989,054 (GRCm39) H345Y possibly damaging Het
Zfp346 G T 13: 55,261,626 (GRCm39) probably benign Het
Zfp616 C T 11: 73,975,033 (GRCm39) A434V probably benign Het
Zfp992 C T 4: 146,551,976 (GRCm39) H566Y 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
R4351:Rabgap1 UTSW 2 37,373,794 (GRCm39) missense probably benign
R4658:Rabgap1 UTSW 2 37,377,561 (GRCm39) nonsense probably null
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'- CAATGCATAGGGAATGTAGCATCAG -3'
(R):5'- ATTTCAAAGATTCAGAACCGCC -3'

Sequencing Primer
(F):5'- ACAGTGAAATGGTGCCTTTCTTC -3'
(R):5'- GATTCAGAACCGCCATTCAAAAC -3'
Posted On 2016-02-04