Incidental Mutation 'R6163:1700018F24Rik'
ID 489960
Institutional Source Beutler Lab
Gene Symbol 1700018F24Rik
Ensembl Gene ENSMUSG00000029620
Gene Name RIKEN cDNA 1700018F24 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R6163 (G1)
Quality Score 204.009
Status Not validated
Chromosome 5
Chromosomal Location 144979800-144982491 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 144982098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 228 (Q228*)
Ref Sequence ENSEMBL: ENSMUSP00000031624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031624] [ENSMUST00000151196]
AlphaFold B2RW27
Predicted Effect probably null
Transcript: ENSMUST00000031624
AA Change: Q228*
SMART Domains Protein: ENSMUSP00000031624
Gene: ENSMUSG00000029620
AA Change: Q228*

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic5 A G 3: 81,913,833 (GRCm39) N169S probably damaging Het
Atad2b T A 12: 5,004,593 (GRCm39) L374H probably benign Het
Birc2 G A 9: 7,819,036 (GRCm39) T544I probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Cc2d2b C T 19: 40,744,950 (GRCm39) T23I probably benign Het
Ccdc137 G T 11: 120,350,927 (GRCm39) R108L possibly damaging Het
Cenpe T C 3: 134,974,764 (GRCm39) I2308T probably damaging Het
Clec2m C T 6: 129,303,710 (GRCm39) R85H probably benign Het
Cpt1b T C 15: 89,308,620 (GRCm39) T103A probably benign Het
Cpvl C A 6: 53,850,503 (GRCm39) V445F probably damaging Het
Cttnbp2 A G 6: 18,434,950 (GRCm39) S303P possibly damaging Het
Cyp17a1 T A 19: 46,657,761 (GRCm39) I264F possibly damaging Het
Cyp51 T A 5: 4,150,199 (GRCm39) I175F probably damaging Het
Dennd4c C T 4: 86,723,828 (GRCm39) P695S possibly damaging Het
Dlgap2 A T 8: 14,896,641 (GRCm39) Q1039L probably damaging Het
Dnah14 T C 1: 181,493,926 (GRCm39) L1694P probably benign Het
Dnah2 G A 11: 69,411,729 (GRCm39) Q298* probably null Het
Dsg2 G T 18: 20,731,726 (GRCm39) probably null Het
Esr2 A C 12: 76,168,643 (GRCm39) V522G probably damaging Het
Fmo9 T A 1: 166,494,962 (GRCm39) H262L probably benign Het
Glb1l T A 1: 75,178,051 (GRCm39) M373L probably benign Het
Gls A G 1: 52,254,735 (GRCm39) S247P probably benign Het
Gm37240 T A 3: 84,423,092 (GRCm39) E213D probably damaging Het
Gmip T A 8: 70,270,022 (GRCm39) V675E probably benign Het
Grb10 C A 11: 11,893,932 (GRCm39) E330* probably null Het
H2ac13 A T 13: 21,900,859 (GRCm39) N90Y probably damaging Het
Hivep2 A G 10: 14,005,736 (GRCm39) K778R probably damaging Het
Ighv1-26 T C 12: 114,752,416 (GRCm39) S4G probably benign Het
Igkv3-3 T A 6: 70,664,257 (GRCm39) V33E possibly damaging Het
Itga2 C A 13: 115,002,726 (GRCm39) G588V probably damaging Het
Itpr1 C T 6: 108,365,245 (GRCm39) H58Y probably damaging Het
Jmjd1c T A 10: 67,083,827 (GRCm39) D2365E possibly damaging Het
Limk1 T C 5: 134,686,809 (GRCm39) Y518C probably damaging Het
Marchf6 G C 15: 31,465,497 (GRCm39) H802Q probably benign Het
Mark2 A G 19: 7,268,126 (GRCm39) S26P probably benign Het
Mdn1 T A 4: 32,716,040 (GRCm39) L2074Q probably damaging Het
Mrpl37 T C 4: 106,921,793 (GRCm39) E174G possibly damaging Het
Mtcl1 T C 17: 66,686,326 (GRCm39) H860R probably benign Het
Neurod1 A G 2: 79,284,505 (GRCm39) F293L probably benign Het
Nwd1 C T 8: 73,388,814 (GRCm39) R81W probably damaging Het
Nwd2 C A 5: 63,963,131 (GRCm39) A905E probably benign Het
Or14a260 A T 7: 85,985,592 (GRCm39) I4N possibly damaging Het
Or1x6 T A 11: 50,939,595 (GRCm39) Y220* probably null Het
Or5b12b A C 19: 12,861,472 (GRCm39) T76P probably damaging Het
Or7e169 A G 9: 19,757,024 (GRCm39) I297T probably benign Het
Otop1 C A 5: 38,445,234 (GRCm39) probably null Het
Otp A G 13: 95,012,288 (GRCm39) H4R probably damaging Het
P4htm A C 9: 108,459,150 (GRCm39) Y261D probably damaging Het
Pcsk5 A T 19: 17,450,405 (GRCm39) C1148S probably damaging Het
Plekhg1 A T 10: 3,914,369 (GRCm39) R1419W probably damaging Het
Pramel20 A G 4: 143,298,605 (GRCm39) K183E probably damaging Het
Prkd3 C A 17: 79,273,784 (GRCm39) D491Y possibly damaging Het
Prr11 A C 11: 86,994,454 (GRCm39) L64R possibly damaging Het
Pygo1 G T 9: 72,851,980 (GRCm39) A56S probably damaging Het
Rexo5 A G 7: 119,404,470 (GRCm39) T189A probably damaging Het
Rnf213 A T 11: 119,349,254 (GRCm39) H3784L possibly damaging Het
Rps6ka5 T G 12: 100,562,179 (GRCm39) probably null Het
Slco2b1 T A 7: 99,338,106 (GRCm39) I93F probably damaging Het
Slfn8 T C 11: 82,894,690 (GRCm39) *408W probably null Het
Sptbn1 C A 11: 30,109,443 (GRCm39) E51* probably null Het
Ssc5d T A 7: 4,930,253 (GRCm39) H111Q probably damaging Het
Sult1c2 T C 17: 54,280,981 (GRCm39) N41D probably benign Het
Taar8c G A 10: 23,977,116 (GRCm39) T232I probably benign Het
Tdo2 T C 3: 81,882,710 (GRCm39) E2G possibly damaging Het
Tff2 T C 17: 31,363,152 (GRCm39) E24G probably benign Het
Tjp2 C A 19: 24,103,068 (GRCm39) probably null Het
Tnfrsf1b A T 4: 144,946,477 (GRCm39) D311E probably benign Het
Usp15 G T 10: 123,004,210 (GRCm39) N181K probably damaging Het
Vmn1r175 T G 7: 23,508,591 (GRCm39) E12A possibly damaging Het
Vmn1r47 T C 6: 89,999,773 (GRCm39) S302P probably damaging Het
Vmn2r58 A G 7: 41,486,825 (GRCm39) M690T probably benign Het
Wee1 T A 7: 109,734,858 (GRCm39) H465Q probably damaging Het
Zfr C T 15: 12,146,331 (GRCm39) A294V 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
R5712:1700018F24Rik UTSW 5 144,981,563 (GRCm39) missense probably benign 0.32
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'- GAATCCTCTGGCATGAGAAGG -3'
(R):5'- ATCTCCAGCCTCATCTGCAG -3'

Sequencing Primer
(F):5'- CAATGGCATCTTGGGGAAGCTC -3'
(R):5'- AGCCTCATCTGCAGCCTCG -3'
Posted On 2017-10-10