Incidental Mutation 'IGL02416:Rabgap1'
ID292465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rabgap1
Ensembl Gene ENSMUSG00000035437
Gene NameRAB GTPase activating protein 1
SynonymsGapcena
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.576) question?
Stock #IGL02416
Quality Score
Status
Chromosome2
Chromosomal Location37443279-37566454 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37561950 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 954 (I954T)
Ref Sequence ENSEMBL: ENSMUSP00000108542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061179] [ENSMUST00000112920] [ENSMUST00000183690]
Predicted Effect probably benign
Transcript: ENSMUST00000061179
AA Change: I954T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: I954T

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: ENSMUST00000112920
AA Change: I954T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: I954T

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T C 14: 68,572,833 N227S probably null Het
Adgrf5 T G 17: 43,444,980 probably null Het
Arid2 G A 15: 96,350,055 G116D possibly damaging Het
Arsa T A 15: 89,474,788 H225L probably damaging Het
Atf6 T A 1: 170,747,157 K571* probably null Het
Bicdl1 A C 5: 115,663,885 L38R probably damaging Het
Cct4 T C 11: 23,002,868 S515P probably damaging Het
Celsr3 A C 9: 108,832,119 D1388A probably damaging Het
Clca2 T C 3: 145,085,016 T432A probably benign Het
Des T A 1: 75,362,728 probably null Het
Dock11 T A X: 36,020,086 V1119E probably damaging Het
Dysf A G 6: 84,192,914 N1763S possibly damaging Het
Emilin1 A G 5: 30,917,788 S458G possibly damaging Het
Fhdc1 T G 3: 84,445,228 M897L probably benign Het
Foxj1 T C 11: 116,332,003 S325G probably benign Het
Gm5407 A G 16: 49,296,887 noncoding transcript Het
Gm6576 T C 15: 27,025,987 noncoding transcript Het
Hells G A 19: 38,964,627 S743N probably benign Het
Ighv2-9-1 A T 12: 113,770,111 L30Q probably damaging Het
Iqgap1 A T 7: 80,726,038 L1363H probably damaging Het
Lrp2 T C 2: 69,469,633 D3025G probably damaging Het
Mef2d C T 3: 88,156,502 R79C probably damaging Het
Mical1 G T 10: 41,484,810 probably null Het
Micu2 A T 14: 57,923,965 V300E probably damaging Het
Mmgt2 T C 11: 62,664,877 L17P probably damaging Het
Olfr1182 A G 2: 88,446,830 I36T probably benign Het
Olfr371 T A 8: 85,231,033 C179* probably null Het
Olfr873 A T 9: 20,300,245 E15V probably benign Het
Pigb A G 9: 73,017,432 S482P probably benign Het
Pkd1l2 T A 8: 117,040,835 T1239S possibly damaging Het
Pou1f1 T C 16: 65,531,956 I187T probably damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Scube3 T G 17: 28,164,136 C429W probably damaging Het
Slco6b1 T A 1: 96,924,333 noncoding transcript Het
Strc A T 2: 121,369,058 I1300N probably damaging Het
Tdrd6 T A 17: 43,624,738 R1806S probably benign Het
Trpm8 T A 1: 88,360,716 L860Q probably damaging Het
Vmn1r8 A G 6: 57,036,620 R219G probably damaging Het
Wdr48 A G 9: 119,924,760 S649G probably damaging Het
Other mutations in Rabgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Rabgap1 APN 2 37469546 missense probably damaging 1.00
IGL01456:Rabgap1 APN 2 37541175 missense probably damaging 0.99
IGL01599:Rabgap1 APN 2 37556269 missense probably damaging 1.00
IGL01834:Rabgap1 APN 2 37564761 intron probably benign
IGL01940:Rabgap1 APN 2 37487067 missense probably damaging 1.00
IGL02683:Rabgap1 APN 2 37502939 missense probably damaging 1.00
IGL02755:Rabgap1 APN 2 37537314 missense probably damaging 0.98
IGL02999:Rabgap1 APN 2 37483826 missense possibly damaging 0.56
IGL03144:Rabgap1 APN 2 37540532 missense probably damaging 0.99
IGL02796:Rabgap1 UTSW 2 37472306 missense probably damaging 0.99
R0117:Rabgap1 UTSW 2 37561885 splice site probably null
R0455:Rabgap1 UTSW 2 37487120 missense probably damaging 1.00
R0569:Rabgap1 UTSW 2 37489717 intron probably benign
R0586:Rabgap1 UTSW 2 37543223 missense probably benign
R0962:Rabgap1 UTSW 2 37560469 intron probably benign
R1055:Rabgap1 UTSW 2 37492068 missense possibly damaging 0.91
R1086:Rabgap1 UTSW 2 37469446 missense probably damaging 0.99
R1251:Rabgap1 UTSW 2 37543234 splice site probably null
R1598:Rabgap1 UTSW 2 37561899 missense probably damaging 1.00
R1924:Rabgap1 UTSW 2 37495759 critical splice donor site probably null
R1957:Rabgap1 UTSW 2 37483762 missense possibly damaging 0.93
R2134:Rabgap1 UTSW 2 37563487 nonsense probably null
R2154:Rabgap1 UTSW 2 37475441 missense probably damaging 1.00
R4328:Rabgap1 UTSW 2 37532615 missense probably damaging 1.00
R4351:Rabgap1 UTSW 2 37483782 missense probably benign
R4658:Rabgap1 UTSW 2 37487549 nonsense probably null
R4821:Rabgap1 UTSW 2 37532519 missense probably damaging 1.00
R4897:Rabgap1 UTSW 2 37560571 missense probably benign 0.01
R5014:Rabgap1 UTSW 2 37487140 missense probably damaging 1.00
R5252:Rabgap1 UTSW 2 37475357 missense probably benign 0.11
R5392:Rabgap1 UTSW 2 37469489 missense probably damaging 1.00
R5794:Rabgap1 UTSW 2 37502902 missense probably benign 0.03
R5941:Rabgap1 UTSW 2 37561896 missense possibly damaging 0.62
R6002:Rabgap1 UTSW 2 37473602 missense probably benign 0.05
R6209:Rabgap1 UTSW 2 37563598 nonsense probably null
R6317:Rabgap1 UTSW 2 37542647 missense possibly damaging 0.88
R7011:Rabgap1 UTSW 2 37540480 missense probably damaging 1.00
R7014:Rabgap1 UTSW 2 37560563 missense probably benign 0.08
R7514:Rabgap1 UTSW 2 37537342 missense probably damaging 1.00
R7543:Rabgap1 UTSW 2 37469432 missense probably damaging 0.99
R7599:Rabgap1 UTSW 2 37502896 frame shift probably null
R7709:Rabgap1 UTSW 2 37537327 missense possibly damaging 0.89
R7784:Rabgap1 UTSW 2 37487532 missense possibly damaging 0.91
R7816:Rabgap1 UTSW 2 37563464 missense probably benign 0.01
R7834:Rabgap1 UTSW 2 37469407 intron probably benign
R7869:Rabgap1 UTSW 2 37487130 missense probably benign 0.31
R7888:Rabgap1 UTSW 2 37537307 nonsense probably null
R8084:Rabgap1 UTSW 2 37537305 missense probably damaging 1.00
Z1176:Rabgap1 UTSW 2 37560544 missense probably benign 0.06
Z1177:Rabgap1 UTSW 2 37469528 missense probably benign 0.00
Posted On2015-04-16