Incidental Mutation 'R4850:Rangrf'
ID430170
Institutional Source Beutler Lab
Gene Symbol Rangrf
Ensembl Gene ENSMUSG00000032892
Gene NameRAN guanine nucleotide release factor
SynonymsRangnrf, Mog1, 2400006H24Rik
MMRRC Submission 042462-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.236) question?
Stock #R4850 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location68972484-68975185 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 68973640 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018884] [ENSMUST00000038644] [ENSMUST00000038644] [ENSMUST00000038644] [ENSMUST00000102606]
Predicted Effect probably benign
Transcript: ENSMUST00000018884
SMART Domains Protein: ENSMUSP00000018884
Gene: ENSMUSG00000018740

DomainStartEndE-ValueType
Pfam:Mito_carr 1 90 4.5e-20 PFAM
Pfam:Mito_carr 98 193 2.2e-16 PFAM
Pfam:Mito_carr 197 295 6.8e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000038644
SMART Domains Protein: ENSMUSP00000038485
Gene: ENSMUSG00000032892

DomainStartEndE-ValueType
Pfam:Mog1 7 145 1.3e-41 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000038644
SMART Domains Protein: ENSMUSP00000038485
Gene: ENSMUSG00000032892

DomainStartEndE-ValueType
Pfam:Mog1 7 145 1.3e-41 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000038644
SMART Domains Protein: ENSMUSP00000038485
Gene: ENSMUSG00000032892

DomainStartEndE-ValueType
Pfam:Mog1 7 145 1.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102606
SMART Domains Protein: ENSMUSP00000099666
Gene: ENSMUSG00000018740

DomainStartEndE-ValueType
Pfam:Mito_carr 1 92 7.9e-17 PFAM
Pfam:Mito_carr 98 197 1.2e-16 PFAM
Pfam:Mito_carr 202 299 8.6e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156178
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 99% (79/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,262,938 S3012P unknown Het
Abcb10 C T 8: 123,982,690 A42T probably benign Het
Acsf3 T C 8: 122,817,436 V551A probably damaging Het
Adgrl2 G A 3: 148,859,020 T304I probably damaging Het
Akr1d1 A G 6: 37,554,587 probably null Het
Ankrd17 A T 5: 90,264,786 H1226Q probably damaging Het
Arap1 T C 7: 101,398,791 I847T probably damaging Het
Atad2b G A 12: 4,943,251 G257S probably benign Het
Cand2 A T 6: 115,801,948 T1158S probably benign Het
Cic G A 7: 25,272,902 R686H probably damaging Het
Cldn1 T A 16: 26,363,163 T99S probably benign Het
Cnga3 G T 1: 37,258,006 E173* probably null Het
Cryge G T 1: 65,051,052 probably benign Het
Dsp T A 13: 38,192,469 L1410H probably damaging Het
Dync2h1 T C 9: 7,134,364 T1548A probably benign Het
Dysf C A 6: 84,097,715 D499E probably damaging Het
Eml5 T C 12: 98,790,619 D1917G probably damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fam71d A G 12: 78,715,153 D197G probably damaging Het
Fn3krp A T 11: 121,425,053 H90L possibly damaging Het
Gm10718 A T 9: 3,023,716 T56S probably benign Het
Gm4847 A T 1: 166,642,339 I55K probably damaging Het
Gsn T A 2: 35,283,900 probably null Het
Haghl T C 17: 25,783,006 probably benign Het
Hist1h2bj G T 13: 22,043,251 probably benign Het
Hmg20b T A 10: 81,346,927 E139V probably damaging Het
Hsd3b6 G A 3: 98,807,905 T57I probably benign Het
Igkv5-48 A G 6: 69,726,796 S42P probably damaging Het
Igsf23 T C 7: 19,953,934 probably benign Het
Kcnt1 T C 2: 25,908,100 F874L probably damaging Het
Maf1 T C 15: 76,352,962 F110L possibly damaging Het
Mtpap C T 18: 4,387,044 R365W probably damaging Het
Mtus1 A C 8: 41,084,470 S70A possibly damaging Het
Nfatc1 T A 18: 80,697,865 T307S probably benign Het
Nphs1 T G 7: 30,463,232 S379A possibly damaging Het
Nup205 A G 6: 35,230,530 T1506A probably benign Het
Olfr1044 T A 2: 86,171,671 I49F probably damaging Het
Olfr275 T C 4: 52,825,450 S18P possibly damaging Het
Pcdhga8 A T 18: 37,727,709 Y606F probably damaging Het
Pde7a A G 3: 19,243,117 V123A probably benign Het
Pex1 C T 5: 3,624,426 T809I probably benign Het
Prdm13 C A 4: 21,678,243 R749L possibly damaging Het
Prkcd A G 14: 30,599,743 L498P probably damaging Het
Pros1 A T 16: 62,885,524 E67V probably damaging Het
Rab44 A G 17: 29,140,089 E417G possibly damaging Het
Rp1 T A 1: 4,348,675 K738M probably damaging Het
Ryr2 A T 13: 11,668,820 D3119E probably damaging Het
Ryr2 G A 13: 11,745,752 R1482C probably damaging Het
Sbspon T A 1: 15,858,968 T200S probably damaging Het
Sfxn5 T C 6: 85,332,376 probably benign Het
Slc26a8 T A 17: 28,654,883 I377F probably benign Het
Slc30a7 A G 3: 115,993,008 F72L probably damaging Het
Slc32a1 T C 2: 158,614,192 F256L possibly damaging Het
Slco6b1 T C 1: 96,911,833 noncoding transcript Het
Smpd1 A G 7: 105,555,985 H357R probably benign Het
Sncaip A T 18: 52,871,384 H361L probably damaging Het
Tenm2 A C 11: 36,023,488 Y2406* probably null Het
Terb1 T A 8: 104,485,425 H308L probably benign Het
Trim61 A T 8: 65,013,418 L397H probably damaging Het
Trp53bp1 T A 2: 121,205,113 probably null Het
Ttn T G 2: 76,781,555 E9007D possibly damaging Het
Urb1 A T 16: 90,795,414 C319* probably null Het
Vmn2r95 T C 17: 18,451,653 Y551H probably damaging Het
Vwde A T 6: 13,196,048 V326D possibly damaging Het
Xdh A G 17: 73,898,335 L1045P probably damaging Het
Zfp638 T C 6: 83,979,475 I1688T possibly damaging Het
Zwint T A 10: 72,655,956 probably benign Het
Other mutations in Rangrf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02431:Rangrf APN 11 68972739 missense probably benign 0.00
R0611:Rangrf UTSW 11 68972692 missense probably benign 0.13
R4450:Rangrf UTSW 11 68975184 unclassified probably benign
R6341:Rangrf UTSW 11 68972712 missense probably benign 0.23
R6453:Rangrf UTSW 11 68973552 missense probably damaging 1.00
R6526:Rangrf UTSW 11 68973688 missense probably damaging 1.00
R7755:Rangrf UTSW 11 68973714 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GTTGGCTAGCTTTCTCACCG -3'
(R):5'- CCATTGCTTAGTAGGACGGGAG -3'

Sequencing Primer
(F):5'- AGCTTTCTCACCGCGCAG -3'
(R):5'- AGGAGGTAGTGGGTGCTCC -3'
Posted On2016-09-07