Incidental Mutation 'IGL01448:Rabgap1l'
ID 84538
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 # IGL01448
Quality Score
Status
Chromosome 1
Chromosomal Location 160046744-160620781 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 160568315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028049] [ENSMUST00000193810] [ENSMUST00000195442]
AlphaFold A6H6A9
Predicted Effect probably benign
Transcript: ENSMUST00000028049
SMART Domains Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721

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: ENSMUST00000193810
SMART Domains Protein: ENSMUSP00000141749
Gene: ENSMUSG00000026721

DomainStartEndE-ValueType
low complexity region 113 124 N/A INTRINSIC
Blast:PTB 127 147 6e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000195442
SMART Domains Protein: ENSMUSP00000141666
Gene: ENSMUSG00000026721

DomainStartEndE-ValueType
low complexity region 85 96 N/A INTRINSIC
PTB 99 232 4.47e-20 SMART
Pfam:DUF3694 262 394 1.4e-42 PFAM
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Anapc7 G A 5: 122,566,276 (GRCm39) A62T probably damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Eftud2 G A 11: 102,756,389 (GRCm39) probably benign Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fign A G 2: 63,810,032 (GRCm39) S413P probably damaging Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
Glb1 A G 9: 114,279,745 (GRCm39) probably benign Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Il18r1 A G 1: 40,513,890 (GRCm39) E32G probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Kiz A G 2: 146,705,721 (GRCm39) K94E probably benign Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Or6c69 A G 10: 129,748,114 (GRCm39) I11T possibly damaging Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Pes1 G A 11: 3,927,979 (GRCm39) E544K possibly damaging Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
Spata31d1a T A 13: 59,849,373 (GRCm39) R918S probably benign Het
St3gal4 T C 9: 34,963,627 (GRCm39) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vezt T A 10: 93,832,719 (GRCm39) I231F probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp512b T C 2: 181,229,578 (GRCm39) T625A possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly damaging 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
IGL01886:Rabgap1l APN 1 160,169,612 (GRCm39) missense probably damaging 1.00
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 2013-11-11