Incidental Mutation 'R6945:Rabgap1l'
ID 540821
Institutional Source Beutler Lab
Gene Symbol Rabgap1l
Ensembl Gene ENSMUSG00000026721
Gene Name RAB GTPase activating protein 1-like
Synonyms Hh1, 8430421H08Rik, 5830411O09Rik, 9630005B12Rik
MMRRC Submission 045059-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6945 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 160219174-160793211 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 160682182 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 442 (S442P)
Ref Sequence ENSEMBL: ENSMUSP00000028049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028049] [ENSMUST00000195442]
AlphaFold A6H6A9
Predicted Effect probably benign
Transcript: ENSMUST00000028049
AA Change: S442P

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
AA Change: S442P

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: ENSMUST00000195442
AA Change: S414P

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000141666
Gene: ENSMUSG00000026721
AA Change: S414P

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
Meta Mutation Damage Score 0.0890 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 96% (51/53)
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
5430403G16Rik A C 5: 109,676,845 (GRCm38) N246K probably benign Het
AA792892 C T 5: 94,383,631 (GRCm38) H125Y possibly damaging Het
Abcc5 T A 16: 20,400,009 (GRCm38) T208S probably benign Het
Acaa2 A G 18: 74,793,309 (GRCm38) E112G probably benign Het
Adgrb1 A G 15: 74,550,024 (GRCm38) N881S probably damaging Het
Adgre1 A G 17: 57,420,399 (GRCm38) E443G probably benign Het
Adgre1 A G 17: 57,410,844 (GRCm38) E314G probably benign Het
Akp3 A G 1: 87,125,631 (GRCm38) Y102C probably damaging Het
Birc6 A G 17: 74,579,531 (GRCm38) N618S probably benign Het
Bpifc A G 10: 85,979,214 (GRCm38) V296A probably benign Het
Cacna2d3 G A 14: 28,969,318 (GRCm38) probably benign Het
Cacnb4 T C 2: 52,474,954 (GRCm38) N99S probably damaging Het
Cd38 A G 5: 43,908,006 (GRCm38) Y283C probably damaging Het
Celf4 T A 18: 25,496,236 (GRCm38) Q411L probably damaging Het
Cemip A T 7: 83,998,547 (GRCm38) H108Q probably damaging Het
Col23a1 A G 11: 51,561,893 (GRCm38) E225G unknown Het
Dnah11 T C 12: 118,060,310 (GRCm38) E1902G probably damaging Het
Dst A G 1: 34,190,490 (GRCm38) D2063G probably damaging Het
Fsip2 A T 2: 82,992,840 (GRCm38) I6306L probably benign Het
Furin A G 7: 80,391,090 (GRCm38) S667P possibly damaging Het
Glmp T A 3: 88,325,832 (GRCm38) S92R probably benign Het
Gm11563 C G 11: 99,658,472 (GRCm38) C152S unknown Het
Gm3486 A G 14: 41,484,561 (GRCm38) V185A probably benign Het
Gm4070 G A 7: 105,901,980 (GRCm38) Q622* probably null Het
Hyal1 C A 9: 107,579,170 (GRCm38) A102E probably damaging Het
Invs T C 4: 48,421,785 (GRCm38) C806R probably benign Het
L1td1 T C 4: 98,733,696 (GRCm38) V165A probably benign Het
Lama1 A G 17: 67,813,866 (GRCm38) T2666A Het
Lrit1 G C 14: 37,060,095 (GRCm38) V242L probably damaging Het
Lrrc8a A G 2: 30,256,227 (GRCm38) Y351C probably damaging Het
Myh7b T C 2: 155,622,232 (GRCm38) F551S possibly damaging Het
Myo19 A G 11: 84,897,560 (GRCm38) T333A probably benign Het
Nrp2 A T 1: 62,760,788 (GRCm38) N387I probably damaging Het
Oas2 T C 5: 120,736,139 (GRCm38) D543G probably benign Het
Olfr1040 A G 2: 86,146,084 (GRCm38) S217P probably damaging Het
Olfr117 A G 17: 37,659,514 (GRCm38) I273T possibly damaging Het
Pak7 A G 2: 136,100,939 (GRCm38) V427A probably benign Het
Pfas G A 11: 69,000,530 (GRCm38) A247V probably benign Het
Psat1 T A 19: 15,917,181 (GRCm38) T115S probably benign Het
Psme4 T A 11: 30,837,437 (GRCm38) D1077E probably benign Het
Ralgapa1 A G 12: 55,776,191 (GRCm38) M280T possibly damaging Het
Rb1cc1 A T 1: 6,261,032 (GRCm38) E394D probably damaging Het
Seh1l T C 18: 67,789,390 (GRCm38) V271A probably benign Het
Sf3b1 A T 1: 54,997,156 (GRCm38) N919K probably benign Het
Sftpd A G 14: 41,174,492 (GRCm38) S245P possibly damaging Het
Slc22a15 T C 3: 101,924,114 (GRCm38) E2G probably damaging Het
Spta1 A G 1: 174,209,325 (GRCm38) D1134G possibly damaging Het
Syna A G 5: 134,558,961 (GRCm38) V378A probably damaging Het
Tchp A G 5: 114,709,350 (GRCm38) K77E possibly damaging Het
Tescl T C 7: 24,333,531 (GRCm38) N123S probably benign Het
Trio C T 15: 27,824,090 (GRCm38) R1443Q probably damaging Het
Trrap A T 5: 144,790,855 (GRCm38) Y462F possibly damaging Het
Vmn1r78 A G 7: 12,152,905 (GRCm38) T148A probably benign Het
Vmn2r111 T C 17: 22,559,051 (GRCm38) N549S possibly damaging Het
Other mutations in Rabgap1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Rabgap1l APN 1 160,738,969 (GRCm38) missense probably benign 0.02
IGL01309:Rabgap1l APN 1 160,700,798 (GRCm38) missense probably benign 0.00
IGL01448:Rabgap1l APN 1 160,740,745 (GRCm38) splice site probably benign
IGL01886:Rabgap1l APN 1 160,342,042 (GRCm38) missense probably damaging 1.00
IGL02010:Rabgap1l APN 1 160,472,071 (GRCm38) missense probably damaging 0.99
IGL02079:Rabgap1l APN 1 160,738,970 (GRCm38) missense probably benign 0.00
IGL02800:Rabgap1l APN 1 160,472,053 (GRCm38) missense possibly damaging 0.73
IGL03343:Rabgap1l APN 1 160,443,283 (GRCm38) missense probably benign
IGL03388:Rabgap1l APN 1 160,733,523 (GRCm38) splice site probably null
IGL03406:Rabgap1l APN 1 160,722,169 (GRCm38) missense probably damaging 1.00
amerigo UTSW 1 160,724,036 (GRCm38) missense probably damaging 1.00
hispaniola UTSW 1 160,645,307 (GRCm38) critical splice donor site probably null
R0047:Rabgap1l UTSW 1 160,231,789 (GRCm38) splice site probably benign
R0047:Rabgap1l UTSW 1 160,231,789 (GRCm38) splice site probably benign
R0048:Rabgap1l UTSW 1 160,627,369 (GRCm38) splice site probably benign
R0099:Rabgap1l UTSW 1 160,682,116 (GRCm38) missense possibly damaging 0.89
R0201:Rabgap1l UTSW 1 160,453,745 (GRCm38) splice site probably benign
R0432:Rabgap1l UTSW 1 160,722,205 (GRCm38) missense probably benign 0.10
R1104:Rabgap1l UTSW 1 160,231,875 (GRCm38) splice site probably benign
R1220:Rabgap1l UTSW 1 160,738,909 (GRCm38) missense probably damaging 1.00
R1485:Rabgap1l UTSW 1 160,733,680 (GRCm38) missense probably benign 0.06
R1569:Rabgap1l UTSW 1 160,702,390 (GRCm38) missense probably benign 0.08
R1907:Rabgap1l UTSW 1 160,645,310 (GRCm38) missense probably benign 0.07
R2128:Rabgap1l UTSW 1 160,738,957 (GRCm38) missense probably benign 0.00
R2129:Rabgap1l UTSW 1 160,738,957 (GRCm38) missense probably benign 0.00
R2177:Rabgap1l UTSW 1 160,724,062 (GRCm38) missense possibly damaging 0.89
R4636:Rabgap1l UTSW 1 160,342,090 (GRCm38) splice site probably null
R4722:Rabgap1l UTSW 1 160,342,164 (GRCm38) missense possibly damaging 0.81
R4743:Rabgap1l UTSW 1 160,453,783 (GRCm38) missense probably damaging 1.00
R4913:Rabgap1l UTSW 1 160,238,541 (GRCm38) missense probably damaging 1.00
R4915:Rabgap1l UTSW 1 160,441,842 (GRCm38) missense probably benign 0.01
R5035:Rabgap1l UTSW 1 160,724,036 (GRCm38) missense probably damaging 1.00
R5087:Rabgap1l UTSW 1 160,722,239 (GRCm38) missense probably damaging 1.00
R5437:Rabgap1l UTSW 1 160,722,147 (GRCm38) missense probably damaging 1.00
R5507:Rabgap1l UTSW 1 160,351,328 (GRCm38) missense possibly damaging 0.83
R5619:Rabgap1l UTSW 1 160,238,572 (GRCm38) missense probably benign 0.00
R5691:Rabgap1l UTSW 1 160,735,684 (GRCm38) missense probably damaging 1.00
R5837:Rabgap1l UTSW 1 160,307,222 (GRCm38) utr 3 prime probably benign
R5881:Rabgap1l UTSW 1 160,342,113 (GRCm38) missense probably damaging 1.00
R6045:Rabgap1l UTSW 1 160,645,323 (GRCm38) missense probably benign 0.00
R6243:Rabgap1l UTSW 1 160,645,307 (GRCm38) critical splice donor site probably null
R6294:Rabgap1l UTSW 1 160,231,849 (GRCm38) missense probably benign 0.14
R6452:Rabgap1l UTSW 1 160,453,761 (GRCm38) missense probably damaging 1.00
R6802:Rabgap1l UTSW 1 160,733,680 (GRCm38) missense probably benign 0.06
R7014:Rabgap1l UTSW 1 160,342,072 (GRCm38) missense probably damaging 1.00
R7062:Rabgap1l UTSW 1 160,226,650 (GRCm38) missense probably benign
R7089:Rabgap1l UTSW 1 160,724,172 (GRCm38) nonsense probably null
R7170:Rabgap1l UTSW 1 160,645,365 (GRCm38) missense probably damaging 1.00
R7172:Rabgap1l UTSW 1 160,733,586 (GRCm38) missense probably benign 0.05
R7303:Rabgap1l UTSW 1 160,682,097 (GRCm38) missense probably benign 0.01
R7357:Rabgap1l UTSW 1 160,342,038 (GRCm38) missense probably damaging 1.00
R7466:Rabgap1l UTSW 1 160,226,484 (GRCm38) critical splice donor site probably null
R7501:Rabgap1l UTSW 1 160,700,788 (GRCm38) missense probably damaging 0.98
R7565:Rabgap1l UTSW 1 160,251,417 (GRCm38) missense
R7582:Rabgap1l UTSW 1 160,682,084 (GRCm38) missense probably benign
R7740:Rabgap1l UTSW 1 160,682,103 (GRCm38) missense probably benign 0.01
R7978:Rabgap1l UTSW 1 160,251,268 (GRCm38) missense
R7993:Rabgap1l UTSW 1 160,700,854 (GRCm38) missense probably damaging 1.00
R8116:Rabgap1l UTSW 1 160,702,442 (GRCm38) missense probably benign 0.22
R8672:Rabgap1l UTSW 1 160,443,276 (GRCm38) missense probably damaging 1.00
R8986:Rabgap1l UTSW 1 160,257,535 (GRCm38) missense probably damaging 0.99
R9010:Rabgap1l UTSW 1 160,700,873 (GRCm38) missense possibly damaging 0.80
R9286:Rabgap1l UTSW 1 160,224,248 (GRCm38) nonsense probably null
Z1177:Rabgap1l UTSW 1 160,739,073 (GRCm38) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- TGTGTGCACCACTTTTGAAGATTC -3'
(R):5'- GGAACTTTCGGGATAGCATTTGAAATG -3'

Sequencing Primer
(F):5'- ACCACTTTTGAAGATTCTAAGAAAGC -3'
(R):5'- CGGGATAGCATTTGAAATGTAAATG -3'
Posted On 2018-11-28