Incidental Mutation 'R5712:1700018F24Rik'
ID 450942
Institutional Source Beutler Lab
Gene Symbol 1700018F24Rik
Ensembl Gene ENSMUSG00000029620
Gene Name RIKEN cDNA 1700018F24 gene
Synonyms
MMRRC Submission 043334-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R5712 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 144979800-144982491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144981563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 133 (T133A)
Ref Sequence ENSEMBL: ENSMUSP00000031624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031624] [ENSMUST00000151196]
AlphaFold B2RW27
Predicted Effect probably benign
Transcript: ENSMUST00000031624
AA Change: T133A

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031624
Gene: ENSMUSG00000029620
AA Change: T133A

DomainStartEndE-ValueType
Pfam:RasGEF_N 62 153 2.9e-10 PFAM
low complexity region 166 186 N/A INTRINSIC
low complexity region 230 241 N/A INTRINSIC
low complexity region 260 286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151196
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 C T 15: 64,626,715 (GRCm39) E708K probably damaging Het
Alkbh1 A G 12: 87,475,883 (GRCm39) C300R probably benign Het
Arhgap11a T C 2: 113,675,646 (GRCm39) N52D probably benign Het
Ash1l T A 3: 88,959,297 (GRCm39) S2225T probably damaging Het
Aspn A T 13: 49,716,995 (GRCm39) Y257F probably damaging Het
Atp2b4 A C 1: 133,658,278 (GRCm39) V544G probably damaging Het
Bclaf1 T G 10: 20,209,277 (GRCm39) Y498D probably damaging Het
Cacna1d A G 14: 29,796,954 (GRCm39) I1520T probably damaging Het
Castor1 T C 11: 4,168,378 (GRCm39) L22P probably damaging Het
Cfap57 G T 4: 118,471,992 (GRCm39) P129Q probably damaging Het
Clcn3 A G 8: 61,390,332 (GRCm39) probably null Het
Epx A T 11: 87,765,679 (GRCm39) Y93* probably null Het
Erich6b T A 14: 75,896,340 (GRCm39) D75E possibly damaging Het
Exoc3l4 T A 12: 111,390,476 (GRCm39) Y350* probably null Het
Fam13a T A 6: 58,933,684 (GRCm39) D302V probably damaging Het
Fbxo17 G A 7: 28,436,897 (GRCm39) R284H probably damaging Het
Fga C T 3: 82,940,440 (GRCm39) T698I possibly damaging Het
Fsip2 T C 2: 82,839,192 (GRCm39) S6987P possibly damaging Het
Gbp9 T A 5: 105,242,421 (GRCm39) N106I possibly damaging Het
Gls T A 1: 52,235,911 (GRCm39) K401N probably damaging Het
Gpatch2l A G 12: 86,291,254 (GRCm39) K146E probably damaging Het
Gpr3 A G 4: 132,937,719 (GRCm39) S318P probably benign Het
Kbtbd7 T C 14: 79,666,205 (GRCm39) V679A possibly damaging Het
Kcnu1 T A 8: 26,409,678 (GRCm39) L127H probably damaging Het
Lck G T 4: 129,450,103 (GRCm39) H214Q probably benign Het
Lrch4 A C 5: 137,636,188 (GRCm39) S380R possibly damaging Het
Lrrk2 A T 15: 91,586,425 (GRCm39) K414* probably null Het
Maco1 A T 4: 134,555,369 (GRCm39) M368K probably benign Het
Med11 A G 11: 70,344,058 (GRCm39) E126G probably damaging Het
Mknk1 A G 4: 115,712,203 (GRCm39) probably null Het
Mst1 T C 9: 107,960,107 (GRCm39) C355R probably damaging Het
Mtcl2 T A 2: 156,872,841 (GRCm39) E890V probably damaging Het
Myl10 T C 5: 136,723,092 (GRCm39) F14L probably damaging Het
Nfrkb C T 9: 31,325,932 (GRCm39) T1125M probably benign Het
Nin T C 12: 70,089,543 (GRCm39) T1291A probably damaging Het
Pcnt T C 10: 76,265,105 (GRCm39) Q335R probably damaging Het
Phc2 A G 4: 128,638,888 (GRCm39) T83A probably damaging Het
Rdh19 T A 10: 127,692,756 (GRCm39) M141K probably benign Het
Rnf17 G A 14: 56,708,856 (GRCm39) V759I probably benign Het
Sirt7 A T 11: 120,511,677 (GRCm39) Y18* probably null Het
Slc27a5 T C 7: 12,732,010 (GRCm39) probably benign Het
Synpo2 T A 3: 122,914,859 (GRCm39) I56F probably damaging Het
Tdrd6 C A 17: 43,937,299 (GRCm39) G1250C probably damaging Het
Tmem190 G A 7: 4,787,288 (GRCm39) G164D probably damaging Het
Tmigd1 T C 11: 76,797,858 (GRCm39) Y67H probably damaging Het
Trim3 T A 7: 105,268,743 (GRCm39) E70D probably damaging Het
Uap1 A G 1: 169,994,414 (GRCm39) F21L possibly damaging Het
Vmn1r176 A T 7: 23,534,925 (GRCm39) V76D probably benign Het
Vps13d A C 4: 144,813,743 (GRCm39) S3245A probably benign Het
Wnt7a T C 6: 91,343,186 (GRCm39) Y232C probably damaging Het
Zan A G 5: 137,398,360 (GRCm39) V4224A unknown Het
Other mutations in 1700018F24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:1700018F24Rik APN 5 144,979,957 (GRCm39) missense possibly damaging 0.83
IGL01751:1700018F24Rik APN 5 144,979,981 (GRCm39) splice site probably null
IGL02928:1700018F24Rik APN 5 144,980,327 (GRCm39) missense probably damaging 1.00
IGL03324:1700018F24Rik APN 5 144,982,261 (GRCm39) missense probably benign 0.01
PIT4486001:1700018F24Rik UTSW 5 144,980,914 (GRCm39) missense probably damaging 1.00
R0359:1700018F24Rik UTSW 5 144,982,181 (GRCm39) nonsense probably null
R0554:1700018F24Rik UTSW 5 144,982,181 (GRCm39) nonsense probably null
R0724:1700018F24Rik UTSW 5 144,981,573 (GRCm39) missense probably benign 0.10
R1774:1700018F24Rik UTSW 5 144,982,351 (GRCm39) missense probably damaging 0.99
R2041:1700018F24Rik UTSW 5 144,982,211 (GRCm39) missense probably damaging 0.99
R4625:1700018F24Rik UTSW 5 144,981,693 (GRCm39) missense possibly damaging 0.95
R5043:1700018F24Rik UTSW 5 144,980,910 (GRCm39) nonsense probably null
R5610:1700018F24Rik UTSW 5 144,982,156 (GRCm39) missense possibly damaging 0.92
R6163:1700018F24Rik UTSW 5 144,982,098 (GRCm39) nonsense probably null
R6799:1700018F24Rik UTSW 5 144,981,624 (GRCm39) missense probably damaging 1.00
R7174:1700018F24Rik UTSW 5 144,981,627 (GRCm39) missense probably benign 0.27
R8127:1700018F24Rik UTSW 5 144,980,249 (GRCm39) missense possibly damaging 0.93
R8688:1700018F24Rik UTSW 5 144,982,183 (GRCm39) missense probably damaging 0.98
R8975:1700018F24Rik UTSW 5 144,980,192 (GRCm39) missense probably damaging 0.97
R9289:1700018F24Rik UTSW 5 144,982,333 (GRCm39) missense probably benign 0.00
R9473:1700018F24Rik UTSW 5 144,980,912 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGAAAGTGTCTGGAGTTCTCTGC -3'
(R):5'- CTTCCTTACTTGCCAGGCAG -3'

Sequencing Primer
(F):5'- TGGAGTTCTCTGCACACAG -3'
(R):5'- TACTTGCCAGGCAGCCCAAG -3'
Posted On 2017-01-03