Incidental Mutation 'R4636:Rabgap1l'
ID 350721
Institutional Source Beutler Lab
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 # R4636 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 160046744-160620781 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 160169660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028049] [ENSMUST00000028052] [ENSMUST00000191651]
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 probably null
Transcript: ENSMUST00000028052
SMART Domains Protein: ENSMUSP00000028052
Gene: ENSMUSG00000026721

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 null
Transcript: ENSMUST00000191651
SMART Domains Protein: ENSMUSP00000141357
Gene: ENSMUSG00000026721

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apcs T C 1: 172,721,989 (GRCm39) E119G probably damaging Het
Arhgef5 A G 6: 43,251,876 (GRCm39) T876A probably benign Het
Arih2 A T 9: 108,491,013 (GRCm39) C227S probably damaging Het
Bsn A T 9: 107,992,623 (GRCm39) L1043Q probably damaging Het
Cyp2d34 G C 15: 82,504,929 (GRCm39) P44A probably damaging Het
Ddx59 T A 1: 136,360,301 (GRCm39) N438K probably damaging Het
Esr2 A G 12: 76,170,098 (GRCm39) M447T possibly damaging Het
Fam131b A G 6: 42,297,914 (GRCm39) S92P probably damaging Het
Galnt9 A G 5: 110,763,365 (GRCm39) M457V probably damaging Het
Gorasp2 T A 2: 70,509,836 (GRCm39) Y166N probably damaging Het
Gpat3 C T 5: 101,005,039 (GRCm39) P58L probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lrp2 T C 2: 69,266,983 (GRCm39) E4308G possibly damaging Het
Mrpl1 G T 5: 96,358,034 (GRCm39) V5L probably benign Het
Nifk T A 1: 118,257,217 (GRCm39) Y117N possibly damaging Het
Notch2 A G 3: 98,053,420 (GRCm39) K2028E probably benign Het
Or4a76 A C 2: 89,460,516 (GRCm39) I242S possibly damaging Het
Prpf3 A G 3: 95,741,482 (GRCm39) F558S probably damaging Het
Rasa2 C T 9: 96,426,390 (GRCm39) D819N probably benign Het
Rbl1 T A 2: 157,009,340 (GRCm39) T732S possibly damaging Het
Slc14a2 A G 18: 78,239,007 (GRCm39) V204A possibly damaging Het
Ttn A C 2: 76,643,937 (GRCm39) L13097R probably damaging Het
Wdpcp A G 11: 21,661,568 (GRCm39) E280G probably benign Het
Znhit6 G T 3: 145,306,334 (GRCm39) V280L probably null Het
Znhit6 A G 3: 145,306,333 (GRCm39) silent 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
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
Predicted Primers PCR Primer
(F):5'- TCTAGGCGAGAAGAGTGTGTAC -3'
(R):5'- CTTGGTAAATTTTGCAGGGATCC -3'

Sequencing Primer
(F):5'- GTGTGTACACAGCATCCCTAAAAC -3'
(R):5'- GCAGGGATCCATTATTATAGTCTCC -3'
Posted On 2015-10-08