Incidental Mutation 'R4450:Rangrf'
ID 328939
Institutional Source Beutler Lab
Gene Symbol Rangrf
Ensembl Gene ENSMUSG00000032892
Gene Name RAN guanine nucleotide release factor
Synonyms Rangnrf, Mog1, 2400006H24Rik
MMRRC Submission 041711-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.161) question?
Stock # R4450 (G1)
Quality Score 220
Status Validated
Chromosome 11
Chromosomal Location 68972484-68975185 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 68975184 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018884] [ENSMUST00000038644] [ENSMUST00000102606]
AlphaFold Q9JIB0
Predicted Effect probably benign
Transcript: ENSMUST00000018884
SMART Domains Protein: ENSMUSP00000018884
Gene: ENSMUSG00000018740

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 benign
Transcript: ENSMUST00000038644
SMART Domains Protein: ENSMUSP00000038485
Gene: ENSMUSG00000032892

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

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (43/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik T A 8: 10,926,129 noncoding transcript Het
Acsl6 A G 11: 54,328,403 D278G probably damaging Het
Adamdec1 C T 14: 68,573,119 R196Q probably benign Het
Akap13 T A 7: 75,742,760 F2450L probably damaging Het
Alg11 C A 8: 22,068,079 A469E probably benign Het
Angel1 A T 12: 86,721,924 Y262N probably damaging Het
Arhgef18 A G 8: 3,437,097 E272G probably damaging Het
Bpifb6 A G 2: 153,906,768 E228G possibly damaging Het
Brca2 T G 5: 150,536,053 D264E probably damaging Het
Cdca4 T C 12: 112,821,658 N150S probably benign Het
Cep162 T C 9: 87,225,808 S510G probably damaging Het
Cldn12 T C 5: 5,508,398 T10A probably damaging Het
Clip2 C T 5: 134,502,953 G631D possibly damaging Het
Col19a1 T A 1: 24,322,035 T625S probably damaging Het
Col6a5 C T 9: 105,904,521 G1635D unknown Het
Dcp1b A G 6: 119,206,476 T175A probably benign Het
Eln C T 5: 134,725,781 probably benign Het
Galnt2 A G 8: 124,295,377 D14G probably benign Het
Gm9894 T A 13: 67,765,080 noncoding transcript Het
Herc2 T C 7: 56,227,892 L4569P probably damaging Het
Hrasls C T 16: 29,228,224 T165M possibly damaging Het
Iqcm T C 8: 75,629,766 S176P probably damaging Het
Klhl42 G A 6: 147,091,671 G47D probably benign Het
Lmo2 T C 2: 103,981,062 Y147H probably damaging Het
Lzts2 A T 19: 45,023,593 K154* probably null Het
Map4k3 C T 17: 80,603,982 probably null Het
Mlc1 A G 15: 88,963,490 F285S probably benign Het
Myo5a T A 9: 75,167,176 M789K probably benign Het
Nbeal1 T A 1: 60,267,774 S319T probably damaging Het
Nsun4 A T 4: 116,051,256 Y702* probably null Het
Olfr917 A T 9: 38,665,754 V30E probably benign Het
Olfr954 G A 9: 39,462,032 M200I probably benign Het
Osbpl5 T A 7: 143,694,906 T640S probably benign Het
Rnpc3 T C 3: 113,611,137 probably benign Het
Ros1 C T 10: 52,077,942 G1867D probably damaging Het
Slc11a1 C A 1: 74,385,535 probably benign Het
Slc15a4 A G 5: 127,604,536 probably null Het
Speer3 C G 5: 13,796,380 A238G possibly damaging Het
Syt6 A G 3: 103,585,645 H156R probably benign Het
Tln2 C T 9: 67,344,065 probably null Het
Trim58 T C 11: 58,651,365 W384R probably benign Het
Wwc2 A G 8: 47,868,667 Y471H unknown 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
R4850:Rangrf UTSW 11 68973640 critical splice donor site probably null
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

Sequencing Primer
Posted On 2015-07-21