Incidental Mutation 'R6243:Rabgap1l'
ID 505350
Institutional Source Beutler Lab
Gene Symbol Rabgap1l
Ensembl Gene ENSMUSG00000026721
Gene Name RAB GTPase activating protein 1-like
Synonyms 5830411O09Rik, 9630005B12Rik, Hh1, 8430421H08Rik
MMRRC Submission 044365-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6243 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 160046744-160620781 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 160472877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028049]
AlphaFold A6H6A9
Predicted Effect probably null
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 noncoding transcript
Transcript: ENSMUST00000104571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194571
Meta Mutation Damage Score 0.9596 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 99% (73/74)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,450,809 (GRCm39) S331P probably damaging Het
Akap9 T G 5: 4,115,000 (GRCm39) probably null Het
Ankef1 A G 2: 136,379,077 (GRCm39) E9G probably damaging Het
Ap1g2 T C 14: 55,336,530 (GRCm39) E788G probably benign Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Asrgl1 A T 19: 9,093,868 (GRCm39) I220K probably damaging Het
Atg16l2 A C 7: 100,941,536 (GRCm39) *404E probably null Het
Atp4a T C 7: 30,415,382 (GRCm39) F334S possibly damaging Het
Atp6v0d1 T C 8: 106,292,495 (GRCm39) E17G probably benign Het
Bcat2 T C 7: 45,237,691 (GRCm39) V279A probably benign Het
Birc6 T G 17: 74,916,382 (GRCm39) M459R probably damaging Het
Bsn T C 9: 107,984,760 (GRCm39) Y3098C unknown Het
Btaf1 T A 19: 36,958,520 (GRCm39) M679K probably benign Het
Cirop T A 14: 54,933,216 (GRCm39) R322S probably damaging Het
Col6a4 T C 9: 105,890,589 (GRCm39) T1902A possibly damaging Het
Crhr1 G A 11: 104,064,740 (GRCm39) C364Y probably damaging Het
Crmp1 T C 5: 37,446,288 (GRCm39) L648P probably damaging Het
Cyfip1 T C 7: 55,550,277 (GRCm39) Y671H probably damaging Het
Cyp2b13 C T 7: 25,761,044 (GRCm39) P34S probably damaging Het
Dnajb6 T A 5: 29,986,131 (GRCm39) V233E probably benign Het
Dnhd1 A T 7: 105,301,216 (GRCm39) H191L probably damaging Het
Dsg3 T A 18: 20,672,781 (GRCm39) D817E probably damaging Het
Dytn T C 1: 63,686,680 (GRCm39) Q330R possibly damaging Het
Fads1 G T 19: 10,163,091 (GRCm39) E123* probably null Het
Fchsd2 T C 7: 100,921,016 (GRCm39) probably benign Het
Fmo9 T C 1: 166,494,938 (GRCm39) E270G probably benign Het
Folr1 T A 7: 101,513,172 (GRCm39) H41L probably damaging Het
Gm7298 A G 6: 121,756,096 (GRCm39) N985S possibly damaging Het
Gp1ba T C 11: 70,530,963 (GRCm39) probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Igf2bp3 A T 6: 49,084,362 (GRCm39) N285K possibly damaging Het
Lca5l G A 16: 95,980,112 (GRCm39) T6I possibly damaging Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Mpeg1 A G 19: 12,439,604 (GRCm39) H354R probably benign Het
Msh6 T A 17: 88,290,999 (GRCm39) V195E possibly damaging Het
Mtfmt C T 9: 65,351,182 (GRCm39) T243I probably benign Het
Myo1h T A 5: 114,500,208 (GRCm39) I195K probably damaging Het
Nr1h5 T C 3: 102,856,380 (GRCm39) K300E probably benign Het
Nuak2 T C 1: 132,260,105 (GRCm39) S628P probably benign Het
Nup214 G T 2: 31,892,944 (GRCm39) A721S possibly damaging Het
Or12e13 A G 2: 87,663,385 (GRCm39) M1V probably null Het
Or5d47 A G 2: 87,804,931 (GRCm39) V26A probably benign Het
Pclo T C 5: 14,726,457 (GRCm39) probably benign Het
Phf20 A G 2: 156,065,320 (GRCm39) S12G probably benign Het
Pik3r5 T C 11: 68,382,826 (GRCm39) Y289H probably damaging Het
Pld1 T C 3: 28,149,954 (GRCm39) I717T probably damaging Het
Plxdc1 A G 11: 97,846,299 (GRCm39) Y182H probably damaging Het
Ppid A G 3: 79,510,373 (GRCm39) I354V probably benign Het
Prss2 T C 6: 41,501,387 (GRCm39) V152A probably benign Het
Rab28 C T 5: 41,793,223 (GRCm39) A141T probably benign Het
Rabl6 T G 2: 25,475,415 (GRCm39) S553R probably damaging Het
Rars1 A G 11: 35,717,374 (GRCm39) F170S possibly damaging Het
Ror2 T A 13: 53,267,116 (GRCm39) M440L probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsph4a A T 10: 33,785,139 (GRCm39) Q350L probably damaging Het
Serpinb2 T C 1: 107,450,869 (GRCm39) F204L probably damaging Het
Sertad4 T C 1: 192,533,257 (GRCm39) probably null Het
Shisa3 C T 5: 67,768,486 (GRCm39) P129S probably benign Het
Slc13a2 G A 11: 78,295,534 (GRCm39) L111F probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Stab2 T A 10: 86,743,025 (GRCm39) R1195W probably damaging Het
Syna C A 5: 134,588,968 (GRCm39) probably benign Het
Thada A T 17: 84,744,030 (GRCm39) D759E probably benign Het
Thoc5 A G 11: 4,869,753 (GRCm39) Y385C possibly damaging Het
Thsd7a C T 6: 12,327,601 (GRCm39) D1424N probably damaging Het
Thsd7b A T 1: 130,090,599 (GRCm39) Q1204L probably benign Het
Tnfrsf8 T C 4: 145,029,671 (GRCm39) N43S possibly damaging Het
Trim66 T C 7: 109,059,481 (GRCm39) K921R probably benign Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Ugt2a2 T G 5: 87,610,818 (GRCm39) K339N probably benign Het
Vmn2r8 T C 5: 108,947,211 (GRCm39) T514A probably benign Het
Wrn A T 8: 33,774,682 (GRCm39) M652K possibly damaging Het
Yme1l1 A T 2: 23,083,184 (GRCm39) Y550F probably benign Het
Zfp995 G A 17: 22,099,269 (GRCm39) P322S probably 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
IGL01448:Rabgap1l APN 1 160,568,315 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TCTTTCATTACATCAAGAGCCTGTG -3'
(R):5'- ATGTGACACAGCAGCCTCAC -3'

Sequencing Primer
(F):5'- AAAGGCCCTTTCTGTGCAAG -3'
(R):5'- TCACCTGCAAGGCCTCTGAG -3'
Posted On 2018-02-28