Incidental Mutation 'RF063:5430401F13Rik'
ID 605461
Institutional Source Beutler Lab
Gene Symbol 5430401F13Rik
Ensembl Gene ENSMUSG00000094113
Gene Name RIKEN cDNA 5430401F13 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # RF063 (G1)
Quality Score 217.468
Status Not validated
Chromosome 6
Chromosomal Location 131520725-131530720 bp(+) (GRCm39)
Type of Mutation small insertion (9 aa in frame mutation)
DNA Base Change (assembly) AGAAAGGAAAAGGTGGCCAG to AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG at 131529847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075020] [ENSMUST00000161385]
AlphaFold E9Q328
Predicted Effect probably benign
Transcript: ENSMUST00000075020
SMART Domains Protein: ENSMUSP00000074539
Gene: ENSMUSG00000094113

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 100 116 N/A INTRINSIC
low complexity region 118 166 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161385
SMART Domains Protein: ENSMUSP00000125129
Gene: ENSMUSG00000094113

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 100 116 N/A INTRINSIC
low complexity region 118 166 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G T 2: 25,337,409 (GRCm39) E2421D probably damaging Het
Apc A AATAAAGCCC 18: 34,415,062 (GRCm39) probably benign Het
Calhm1 TGGCTGTGGCTG TGGCTGTGGCTGCGGCTGTGGCTG 19: 47,129,695 (GRCm39) probably benign Het
Casz1 CACA C 4: 149,036,761 (GRCm39) probably benign Het
Dock4 GTGCCGGTGCCCGT G 12: 40,894,398 (GRCm39) probably null Het
F11r CCCCCCCCC CCCCCCCCCCC 1: 171,288,758 (GRCm39) probably benign Het
Fam171b C CAGCAGA 2: 83,643,240 (GRCm39) probably benign Het
Fbrsl1 GCGTGTGCTGGT GCGTGTGCTGGTACGTGTGCTGGT 5: 110,526,005 (GRCm39) probably benign Het
Fbrsl1 GTGCTGGTG GTGCTGGTGCGTCTGCTGGTG 5: 110,526,009 (GRCm39) probably benign Het
Iqcf4 TCCTTTT TCCTTTTCCTTTTCCTTGTCCTTTTCCTTTTCCTTTGCCTTTT 9: 106,447,816 (GRCm39) probably benign Het
Iqgap1 AGGCCACCACTGCTCACAGGTGCTGTACCT A 7: 80,373,499 (GRCm39) probably null Het
Kmt2c GCT GCTCCT 5: 25,520,762 (GRCm39) probably benign Het
Lrtm1 TAGCCTCAGTGGCC T 14: 28,743,400 (GRCm39) probably null Het
Med12l AACA AACAACA 3: 59,183,379 (GRCm39) probably benign Het
Med12l AGC AGCCGC 3: 59,183,394 (GRCm39) probably benign Het
Rassf6 C CTGCCTCACTCATGGTCCTGTAGAGCAATGGGGATTA 5: 90,756,801 (GRCm39) probably null Het
Sh3pxd2b TGTGCC TGTGCCCGTGCC 11: 32,373,051 (GRCm39) probably benign Het
Sorcs2 ATACATACATACCT AT 5: 36,311,155 (GRCm39) probably null Het
Spmap2l CCAG CCAGCGATCCTCCCCAGTCCCGCAAGGTCAG 5: 77,164,273 (GRCm39) probably benign Het
Sry TGCTGCTGCTGCTGCTG T Y: 2,662,595 (GRCm39) probably null Het
Stard8 GAG GAGTAG X: 98,110,130 (GRCm39) probably null Het
Tcof1 GATCCCCTTGGC GATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGATATCCCCTTGGC 18: 60,966,645 (GRCm39) probably benign Het
Trappc9 GCTGCTGCTGCT GCTGCTGCTGCTGCTTCTGCTGCTGCT 15: 72,673,169 (GRCm39) probably benign Het
Trappc9 CTGCTGCT CTGCTGCTGCTGCTGTTGCTGCT 15: 72,673,173 (GRCm39) probably benign Het
Vmn1r74 CAGAGCCACCAAGTACCT C 7: 11,581,067 (GRCm39) probably null Het
Other mutations in 5430401F13Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02737:5430401F13Rik APN 6 131,529,555 (GRCm39) missense probably benign 0.14
R0866:5430401F13Rik UTSW 6 131,529,742 (GRCm39) missense unknown
R1674:5430401F13Rik UTSW 6 131,529,766 (GRCm39) missense unknown
R6374:5430401F13Rik UTSW 6 131,529,892 (GRCm39) missense unknown
R6671:5430401F13Rik UTSW 6 131,528,313 (GRCm39) critical splice donor site probably null
R7150:5430401F13Rik UTSW 6 131,529,630 (GRCm39) missense probably benign 0.16
RF005:5430401F13Rik UTSW 6 131,529,847 (GRCm39) small insertion probably benign
RF014:5430401F13Rik UTSW 6 131,529,820 (GRCm39) small insertion probably benign
RF015:5430401F13Rik UTSW 6 131,529,824 (GRCm39) small insertion probably benign
RF015:5430401F13Rik UTSW 6 131,529,822 (GRCm39) small insertion probably benign
RF015:5430401F13Rik UTSW 6 131,529,819 (GRCm39) small insertion probably benign
RF023:5430401F13Rik UTSW 6 131,529,841 (GRCm39) small insertion probably benign
RF023:5430401F13Rik UTSW 6 131,529,818 (GRCm39) small insertion probably benign
RF029:5430401F13Rik UTSW 6 131,529,858 (GRCm39) small insertion probably benign
RF037:5430401F13Rik UTSW 6 131,529,851 (GRCm39) small insertion probably benign
RF037:5430401F13Rik UTSW 6 131,529,850 (GRCm39) small insertion probably benign
RF041:5430401F13Rik UTSW 6 131,529,857 (GRCm39) small insertion probably benign
RF041:5430401F13Rik UTSW 6 131,529,855 (GRCm39) small insertion probably benign
RF041:5430401F13Rik UTSW 6 131,529,836 (GRCm39) small insertion probably benign
RF042:5430401F13Rik UTSW 6 131,529,849 (GRCm39) small insertion probably benign
RF058:5430401F13Rik UTSW 6 131,529,864 (GRCm39) small insertion probably benign
RF058:5430401F13Rik UTSW 6 131,529,850 (GRCm39) small insertion probably benign
RF063:5430401F13Rik UTSW 6 131,529,846 (GRCm39) small insertion probably benign
X0062:5430401F13Rik UTSW 6 131,529,601 (GRCm39) missense probably benign 0.29
Z1177:5430401F13Rik UTSW 6 131,529,684 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- TAAGGAAGCCATCAAGTCCAAG -3'
(R):5'- TTTGCTCTGAGGGAATCACTG -3'

Sequencing Primer
(F):5'- CGAAGCTCTGATGATGACAACTTG -3'
(R):5'- CACTGGAGACCATCTTTAGTAGG -3'
Posted On 2019-12-04