Incidental Mutation 'RF041:5430401F13Rik'
ID 604817
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 # RF041 (G1)
Quality Score 185.468
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) AAAGGTGGC to AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC at 131529855 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: 99.4%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik TGAGGA TGA 12: 72,928,050 (GRCm39) probably benign Het
Abcf1 CTCTTC CTC 17: 36,274,093 (GRCm39) probably benign Het
Acap3 GGCTGC GGCTGCGGCATCCTGTGCTGC 4: 155,989,557 (GRCm39) probably benign Het
AI837181 GGC GGCTGC 19: 5,475,257 (GRCm39) probably benign Het
Arid1b CGG CGGTGG 17: 5,045,870 (GRCm39) probably benign Het
AY761185 CACTGTGGG C 8: 21,433,928 (GRCm39) probably null Het
Btnl1 C T 17: 34,600,342 (GRCm39) T246M probably benign Het
Cdc40 C T 10: 40,719,119 (GRCm39) D337N probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cul9 CCT CCTACT 17: 46,811,780 (GRCm39) probably null Het
Defb22 GCTGGCCTTTGC GCTGGCCTTTGCCGCAGACCTGGCCTTTGC 2: 152,327,743 (GRCm39) probably benign Het
Dmkn GGGGTGGAAG GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG 7: 30,466,598 (GRCm39) probably benign Het
Flywch1 CTCACCCACTCCTGGTGT CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT 17: 23,981,135 (GRCm39) probably null Het
Flywch1 GT GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT 17: 23,981,151 (GRCm39) probably null Het
Gabre CTCCGG CTCCGGATCCGG X: 71,313,655 (GRCm39) probably benign Het
Gm8369 GTGTGT GTGTGTATGTGT 19: 11,489,122 (GRCm39) probably benign Het
Gykl1 G A 18: 52,827,488 (GRCm39) R232Q probably benign Het
Il2 GG GGGCTTGAAGTGCG 3: 37,179,991 (GRCm39) probably benign Het
Iqcf4 CTTTTCCTTTT CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT 9: 106,447,812 (GRCm39) probably null Het
Kif12 GGC GGCCTCCACCCGGCGTGC 4: 63,089,662 (GRCm39) probably benign Het
Kmt2c TG TGTTGCAG 5: 25,520,773 (GRCm39) probably benign Het
Lce1m CTGCTGCTGCC CTGCTGCTGCCCTTGCTGCTGCC 3: 92,925,448 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,432 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,435 (GRCm39) probably benign Het
Med12l AGC AGCTGC 3: 59,183,406 (GRCm39) probably benign Het
Med12l GC GCACC 3: 59,183,416 (GRCm39) probably benign Het
Nefh CCTCACCTGGGG CCTCACCTGGGGCCTTGGGCTCACCTGGGG 11: 4,891,039 (GRCm39) probably benign Het
Nf2 AAAAG A 11: 4,779,936 (GRCm39) probably null Het
Ngfr CAGG C 11: 95,478,337 (GRCm39) probably benign Het
Nusap1 GAGA GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA 2: 119,458,088 (GRCm39) probably null Het
Nusap1 GATACACGTTAGCAGTGAGGAGCAAGCTGA GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA 2: 119,458,060 (GRCm39) probably benign Het
Nusap1 GTGAGGAGCAAGCTGA GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA 2: 119,458,074 (GRCm39) probably benign Het
Phc1 TG TGCTGCGG 6: 122,300,559 (GRCm39) probably benign Het
Pnma8a CAACATC CAACATCTCATGATGCACCTGCTTAAACATC 7: 16,695,369 (GRCm39) probably null Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,582 (GRCm39) probably benign Het
Setd1a GGTGGTGGT GGTGGTGGTCGTGGTGGT 7: 127,384,504 (GRCm39) probably benign Het
Sfr1 ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC 19: 47,721,307 (GRCm39) probably benign Het
Slc39a4 TGTGGTC TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC 15: 76,499,066 (GRCm39) probably benign Het
Smarca2 AGC AGCCCCTGC 19: 26,608,421 (GRCm39) probably benign Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Tcof1 AGATCCCCTTGGC AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC 18: 60,966,644 (GRCm39) probably benign Het
Tcof1 CCCCTTG CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG 18: 60,966,648 (GRCm39) probably benign Het
Tfeb GCA GCATCA 17: 48,097,025 (GRCm39) probably benign Het
Tmem59 T TGTTTGTTG 4: 107,047,729 (GRCm39) probably benign Het
Tob1 CACA CACAACA 11: 94,105,277 (GRCm39) probably benign Het
Ubtf CTTC CTTCTTC 11: 102,197,771 (GRCm39) probably benign Het
Unc13b AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG 4: 43,177,338 (GRCm39) probably benign Het
Usp19 GTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGT 9: 108,371,187 (GRCm39) unknown 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 6 131,529,836 (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 6 131,529,847 (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'- AAGTCCAGGATCACCAGAGTG -3'
(R):5'- ACTTGCTGCTGTGAGAAGGG -3'

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