Incidental Mutation 'IGL01886:Rabgap1l'
ID 179125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rabgap1l
Ensembl Gene ENSMUSG00000026721
Gene Name RAB GTPase activating protein 1-like
Synonyms 5830411O09Rik, 9630005B12Rik, Hh1, 8430421H08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01886
Quality Score
Status
Chromosome 1
Chromosomal Location 160046744-160620781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 160169612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 778 (N778K)
Ref Sequence ENSEMBL: ENSMUSP00000028049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028049] [ENSMUST00000028052] [ENSMUST00000191651]
AlphaFold A6H6A9
Predicted Effect probably damaging
Transcript: ENSMUST00000028049
AA Change: N778K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
AA Change: N778K

DomainStartEndE-ValueType
low complexity region 113 124 N/A INTRINSIC
PTB 127 260 4.47e-20 SMART
Pfam:DUF3694 290 421 8.1e-41 PFAM
low complexity region 483 496 N/A INTRINSIC
TBC 535 747 5.13e-67 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028052
AA Change: N97K

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028052
Gene: ENSMUSG00000026721
AA Change: N97K

DomainStartEndE-ValueType
Blast:TBC 54 100 8e-16 BLAST
PDB:3HZJ|C 54 130 9e-35 PDB
Blast:TBC 113 176 2e-24 BLAST
low complexity region 188 200 N/A INTRINSIC
coiled coil region 281 340 N/A INTRINSIC
low complexity region 355 366 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191651
AA Change: N70K

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141357
Gene: ENSMUSG00000026721
AA Change: N70K

DomainStartEndE-ValueType
PDB:3HZJ|C 1 107 1e-71 PDB
SCOP:d1fkma2 1 107 1e-9 SMART
Blast:TBC 13 89 2e-32 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194105
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap insertion are viable, fertile and overtly normal with no alterations in hematopoietic progenitor cell numbers or types. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 C T 12: 112,625,592 (GRCm39) V136M probably benign Het
Ankrd34c A T 9: 89,612,318 (GRCm39) L8M possibly damaging Het
Anks6 C A 4: 47,044,850 (GRCm39) W352L probably damaging Het
Arhgap12 A T 18: 6,027,613 (GRCm39) N768K probably damaging Het
Clec7a A T 6: 129,440,140 (GRCm39) probably benign Het
Cyp3a13 G A 5: 137,897,082 (GRCm39) P411S probably damaging Het
Elavl2 A G 4: 91,152,330 (GRCm39) V129A probably damaging Het
Ercc6 T A 14: 32,291,537 (GRCm39) S994T possibly damaging Het
Esco1 T A 18: 10,595,262 (GRCm39) K8I probably damaging Het
Esr1 T A 10: 4,806,861 (GRCm39) I259K probably damaging Het
Filip1l A G 16: 57,391,613 (GRCm39) I734V possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Grin3a T A 4: 49,702,814 (GRCm39) I891F probably damaging Het
Kat7 T C 11: 95,196,959 (GRCm39) T27A probably benign Het
Kdm1a A G 4: 136,288,327 (GRCm39) probably null Het
Kifc5b T C 17: 27,151,091 (GRCm39) V663A probably damaging Het
Lama1 T G 17: 68,114,792 (GRCm39) S2314A probably benign Het
Lrrc69 C T 4: 14,703,984 (GRCm39) V279I probably benign Het
Mast3 A T 8: 71,234,783 (GRCm39) L774Q possibly damaging Het
Med27 C A 2: 29,303,494 (GRCm39) P9Q probably damaging Het
Myo5a C A 9: 75,076,372 (GRCm39) probably benign Het
Myoz1 T C 14: 20,705,377 (GRCm39) K14E probably damaging Het
Neb T C 2: 52,073,857 (GRCm39) probably benign Het
Nlrp1a T C 11: 71,014,327 (GRCm39) T308A probably benign Het
Or1l4b A G 2: 37,036,521 (GRCm39) Y99C probably damaging Het
Or8d2b G T 9: 38,788,844 (GRCm39) C124F probably damaging Het
Orc1 T A 4: 108,461,154 (GRCm39) probably null Het
Pnkp G A 7: 44,511,631 (GRCm39) A76T probably damaging Het
Polr3h T C 15: 81,801,591 (GRCm39) E95G probably damaging Het
Prpf40b T A 15: 99,202,328 (GRCm39) M62K unknown Het
Prpf8 C A 11: 75,386,570 (GRCm39) Q1075K probably benign Het
Ptprg A G 14: 12,179,280 (GRCm38) K766E probably benign Het
Riok3 T A 18: 12,272,442 (GRCm39) N204K probably damaging Het
Shank3 A G 15: 89,415,866 (GRCm39) K650E probably damaging Het
Sim1 T A 10: 50,860,411 (GRCm39) S758T probably damaging Het
Slu7 T G 11: 43,330,087 (GRCm39) N171K probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Sult6b2 A G 6: 142,735,852 (GRCm39) probably null Het
Taf6l C T 19: 8,755,450 (GRCm39) probably null Het
Ubtfl1 G A 9: 18,321,017 (GRCm39) V182M possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Rabgap1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Rabgap1l APN 1 160,566,539 (GRCm39) missense probably benign 0.02
IGL01309:Rabgap1l APN 1 160,528,368 (GRCm39) missense probably benign 0.00
IGL01448:Rabgap1l APN 1 160,568,315 (GRCm39) splice site probably benign
IGL02010:Rabgap1l APN 1 160,299,641 (GRCm39) missense probably damaging 0.99
IGL02079:Rabgap1l APN 1 160,566,540 (GRCm39) missense probably benign 0.00
IGL02800:Rabgap1l APN 1 160,299,623 (GRCm39) missense possibly damaging 0.73
IGL03343:Rabgap1l APN 1 160,270,853 (GRCm39) missense probably benign
IGL03388:Rabgap1l APN 1 160,561,093 (GRCm39) splice site probably null
IGL03406:Rabgap1l APN 1 160,549,739 (GRCm39) missense probably damaging 1.00
amerigo UTSW 1 160,551,606 (GRCm39) missense probably damaging 1.00
hispaniola UTSW 1 160,472,877 (GRCm39) critical splice donor site probably null
R0047:Rabgap1l UTSW 1 160,059,359 (GRCm39) splice site probably benign
R0047:Rabgap1l UTSW 1 160,059,359 (GRCm39) splice site probably benign
R0048:Rabgap1l UTSW 1 160,454,939 (GRCm39) splice site probably benign
R0099:Rabgap1l UTSW 1 160,509,686 (GRCm39) missense possibly damaging 0.89
R0201:Rabgap1l UTSW 1 160,281,315 (GRCm39) splice site probably benign
R0432:Rabgap1l UTSW 1 160,549,775 (GRCm39) missense probably benign 0.10
R1104:Rabgap1l UTSW 1 160,059,445 (GRCm39) splice site probably benign
R1220:Rabgap1l UTSW 1 160,566,479 (GRCm39) missense probably damaging 1.00
R1485:Rabgap1l UTSW 1 160,561,250 (GRCm39) missense probably benign 0.06
R1569:Rabgap1l UTSW 1 160,529,960 (GRCm39) missense probably benign 0.08
R1907:Rabgap1l UTSW 1 160,472,880 (GRCm39) missense probably benign 0.07
R2128:Rabgap1l UTSW 1 160,566,527 (GRCm39) missense probably benign 0.00
R2129:Rabgap1l UTSW 1 160,566,527 (GRCm39) missense probably benign 0.00
R2177:Rabgap1l UTSW 1 160,551,632 (GRCm39) missense possibly damaging 0.89
R4636:Rabgap1l UTSW 1 160,169,660 (GRCm39) splice site probably null
R4722:Rabgap1l UTSW 1 160,169,734 (GRCm39) missense possibly damaging 0.81
R4743:Rabgap1l UTSW 1 160,281,353 (GRCm39) missense probably damaging 1.00
R4913:Rabgap1l UTSW 1 160,066,111 (GRCm39) missense probably damaging 1.00
R4915:Rabgap1l UTSW 1 160,269,412 (GRCm39) missense probably benign 0.01
R5035:Rabgap1l UTSW 1 160,551,606 (GRCm39) missense probably damaging 1.00
R5087:Rabgap1l UTSW 1 160,549,809 (GRCm39) missense probably damaging 1.00
R5437:Rabgap1l UTSW 1 160,549,717 (GRCm39) missense probably damaging 1.00
R5507:Rabgap1l UTSW 1 160,178,898 (GRCm39) missense possibly damaging 0.83
R5619:Rabgap1l UTSW 1 160,066,142 (GRCm39) missense probably benign 0.00
R5691:Rabgap1l UTSW 1 160,563,254 (GRCm39) missense probably damaging 1.00
R5837:Rabgap1l UTSW 1 160,134,792 (GRCm39) utr 3 prime probably benign
R5881:Rabgap1l UTSW 1 160,169,683 (GRCm39) missense probably damaging 1.00
R6045:Rabgap1l UTSW 1 160,472,893 (GRCm39) missense probably benign 0.00
R6243:Rabgap1l UTSW 1 160,472,877 (GRCm39) critical splice donor site probably null
R6294:Rabgap1l UTSW 1 160,059,419 (GRCm39) missense probably benign 0.14
R6452:Rabgap1l UTSW 1 160,281,331 (GRCm39) missense probably damaging 1.00
R6802:Rabgap1l UTSW 1 160,561,250 (GRCm39) missense probably benign 0.06
R6945:Rabgap1l UTSW 1 160,509,752 (GRCm39) missense probably benign 0.29
R7014:Rabgap1l UTSW 1 160,169,642 (GRCm39) missense probably damaging 1.00
R7062:Rabgap1l UTSW 1 160,054,220 (GRCm39) missense probably benign
R7089:Rabgap1l UTSW 1 160,551,742 (GRCm39) nonsense probably null
R7170:Rabgap1l UTSW 1 160,472,935 (GRCm39) missense probably damaging 1.00
R7172:Rabgap1l UTSW 1 160,561,156 (GRCm39) missense probably benign 0.05
R7303:Rabgap1l UTSW 1 160,509,667 (GRCm39) missense probably benign 0.01
R7357:Rabgap1l UTSW 1 160,169,608 (GRCm39) missense probably damaging 1.00
R7466:Rabgap1l UTSW 1 160,054,054 (GRCm39) critical splice donor site probably null
R7501:Rabgap1l UTSW 1 160,528,358 (GRCm39) missense probably damaging 0.98
R7565:Rabgap1l UTSW 1 160,078,987 (GRCm39) missense
R7582:Rabgap1l UTSW 1 160,509,654 (GRCm39) missense probably benign
R7740:Rabgap1l UTSW 1 160,509,673 (GRCm39) missense probably benign 0.01
R7978:Rabgap1l UTSW 1 160,078,838 (GRCm39) missense
R7993:Rabgap1l UTSW 1 160,528,424 (GRCm39) missense probably damaging 1.00
R8116:Rabgap1l UTSW 1 160,530,012 (GRCm39) missense probably benign 0.22
R8672:Rabgap1l UTSW 1 160,270,846 (GRCm39) missense probably damaging 1.00
R8986:Rabgap1l UTSW 1 160,085,105 (GRCm39) missense probably damaging 0.99
R9010:Rabgap1l UTSW 1 160,528,443 (GRCm39) missense possibly damaging 0.80
R9286:Rabgap1l UTSW 1 160,051,818 (GRCm39) nonsense probably null
Z1177:Rabgap1l UTSW 1 160,566,643 (GRCm39) missense possibly damaging 0.82
Posted On 2014-05-07