Incidental Mutation 'R0280:1700061G19Rik'
ID 37482
Institutional Source Beutler Lab
Gene Symbol 1700061G19Rik
Ensembl Gene ENSMUSG00000024209
Gene Name RIKEN cDNA 1700061G19 gene
Synonyms
MMRRC Submission 038502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R0280 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56875477-56888904 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 56885169 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 577 (Y577*)
Ref Sequence ENSEMBL: ENSMUSP00000025048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025048]
AlphaFold Q08EE8
Predicted Effect probably null
Transcript: ENSMUST00000025048
AA Change: Y577*
SMART Domains Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: Y577*

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
Pfam:AMP-binding 80 554 6.5e-68 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C T 8: 24,674,054 (GRCm38) G38R probably benign Het
Ankrd16 T G 2: 11,781,501 (GRCm38) V187G probably damaging Het
AU019823 T C 9: 50,609,379 (GRCm38) T123A probably damaging Het
Ccdc110 A T 8: 45,943,450 (GRCm38) N793Y probably benign Het
Ccdc170 T C 10: 4,558,663 (GRCm38) I629T possibly damaging Het
Clcn6 A G 4: 148,008,715 (GRCm38) L836P probably damaging Het
Colgalt2 G T 1: 152,508,561 (GRCm38) A551S possibly damaging Het
Crocc T C 4: 141,028,426 (GRCm38) E1097G probably damaging Het
Csmd1 A T 8: 16,271,602 (GRCm38) V494E probably damaging Het
Drg1 A T 11: 3,256,537 (GRCm38) probably null Het
Dscam T C 16: 97,039,006 (GRCm38) K134E possibly damaging Het
Dyrk1b T C 7: 28,184,312 (GRCm38) Y198H probably damaging Het
Esr1 G T 10: 4,939,289 (GRCm38) V396F probably damaging Het
Esr1 A G 10: 4,856,951 (GRCm38) D289G probably benign Het
Evi5l T C 8: 4,193,133 (GRCm38) V339A probably damaging Het
Fat4 A T 3: 38,890,816 (GRCm38) Q1286L probably benign Het
Frem1 T C 4: 82,969,444 (GRCm38) H1118R probably damaging Het
Fuk A T 8: 110,894,748 (GRCm38) V188D probably damaging Het
Fut9 C T 4: 25,619,852 (GRCm38) D321N probably benign Het
Gaa T G 11: 119,284,547 (GRCm38) V917G probably damaging Het
Gm973 GCC GC 1: 59,544,680 (GRCm38) probably null Het
Kidins220 A G 12: 25,010,141 (GRCm38) T767A probably damaging Het
Kif7 A G 7: 79,698,823 (GRCm38) S1257P probably benign Het
Ltn1 A G 16: 87,397,838 (GRCm38) L1391P probably damaging Het
Mast3 A G 8: 70,787,920 (GRCm38) V291A possibly damaging Het
Mast3 A G 8: 70,783,795 (GRCm38) Y681H probably damaging Het
Metrn C T 17: 25,795,135 (GRCm38) R239H probably benign Het
Mphosph10 C A 7: 64,376,703 (GRCm38) K666N possibly damaging Het
Mtbp C T 15: 55,586,461 (GRCm38) T433I probably benign Het
Mtmr2 A G 9: 13,799,249 (GRCm38) K365E probably damaging Het
Nanog A G 6: 122,713,398 (GRCm38) D229G probably damaging Het
Npepps T C 11: 97,241,014 (GRCm38) N338S possibly damaging Het
Nphp4 T A 4: 152,551,936 (GRCm38) probably benign Het
Olfr1279 T C 2: 111,307,072 (GRCm38) F289S possibly damaging Het
Plcl2 A G 17: 50,607,034 (GRCm38) E357G probably damaging Het
Polb A T 8: 22,640,392 (GRCm38) Y173N probably damaging Het
R3hdm1 T A 1: 128,162,775 (GRCm38) S74T probably benign Het
Raet1d T A 10: 22,370,883 (GRCm38) C37S probably damaging Het
Reln G A 5: 22,227,513 (GRCm38) probably benign Het
Rps6kc1 T C 1: 190,809,000 (GRCm38) S369G probably damaging Het
Sgf29 A G 7: 126,671,571 (GRCm38) E108G probably benign Het
Sh3tc1 A G 5: 35,706,017 (GRCm38) L942P probably damaging Het
Slc22a27 A T 19: 7,896,822 (GRCm38) L188* probably null Het
Slc9a3 T A 13: 74,159,424 (GRCm38) I445N probably damaging Het
Sufu A T 19: 46,450,673 (GRCm38) probably benign Het
Tomm40 G A 7: 19,713,751 (GRCm38) T118I probably damaging Het
Ttc25 A T 11: 100,550,265 (GRCm38) K107N probably damaging Het
Ttn C T 2: 76,740,479 (GRCm38) R26690H probably damaging Het
Vmn2r16 A G 5: 109,340,139 (GRCm38) I293V possibly damaging Het
Vmn2r68 C G 7: 85,233,258 (GRCm38) probably null Het
Vmn2r68 T A 7: 85,233,249 (GRCm38) probably benign Het
Vsig8 A G 1: 172,561,538 (GRCm38) D119G probably benign Het
Other mutations in 1700061G19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:1700061G19Rik APN 17 56,882,203 (GRCm38) nonsense probably null
IGL01833:1700061G19Rik APN 17 56,881,062 (GRCm38) missense probably benign 0.02
IGL02420:1700061G19Rik APN 17 56,880,494 (GRCm38) missense probably damaging 1.00
IGL02969:1700061G19Rik APN 17 56,883,751 (GRCm38) missense probably damaging 1.00
IGL03054:1700061G19Rik UTSW 17 56,886,528 (GRCm38) missense possibly damaging 0.67
R0197:1700061G19Rik UTSW 17 56,883,835 (GRCm38) missense probably benign 0.01
R0257:1700061G19Rik UTSW 17 56,885,169 (GRCm38) nonsense probably null
R0279:1700061G19Rik UTSW 17 56,885,169 (GRCm38) nonsense probably null
R0281:1700061G19Rik UTSW 17 56,885,169 (GRCm38) nonsense probably null
R0282:1700061G19Rik UTSW 17 56,885,169 (GRCm38) nonsense probably null
R0329:1700061G19Rik UTSW 17 56,883,631 (GRCm38) missense probably benign 0.02
R0330:1700061G19Rik UTSW 17 56,883,631 (GRCm38) missense probably benign 0.02
R0349:1700061G19Rik UTSW 17 56,885,169 (GRCm38) nonsense probably null
R0518:1700061G19Rik UTSW 17 56,885,169 (GRCm38) nonsense probably null
R0519:1700061G19Rik UTSW 17 56,885,169 (GRCm38) nonsense probably null
R0521:1700061G19Rik UTSW 17 56,885,169 (GRCm38) nonsense probably null
R0604:1700061G19Rik UTSW 17 56,885,169 (GRCm38) nonsense probably null
R0883:1700061G19Rik UTSW 17 56,883,835 (GRCm38) missense probably benign 0.01
R1561:1700061G19Rik UTSW 17 56,877,431 (GRCm38) missense probably benign
R1779:1700061G19Rik UTSW 17 56,885,169 (GRCm38) nonsense probably null
R2008:1700061G19Rik UTSW 17 56,886,478 (GRCm38) missense probably benign 0.04
R2102:1700061G19Rik UTSW 17 56,884,949 (GRCm38) nonsense probably null
R2247:1700061G19Rik UTSW 17 56,877,435 (GRCm38) missense possibly damaging 0.83
R2484:1700061G19Rik UTSW 17 56,882,641 (GRCm38) missense probably benign 0.00
R2917:1700061G19Rik UTSW 17 56,885,141 (GRCm38) missense probably damaging 1.00
R3149:1700061G19Rik UTSW 17 56,876,348 (GRCm38) missense probably benign
R3773:1700061G19Rik UTSW 17 56,876,262 (GRCm38) start codon destroyed probably null 0.00
R4829:1700061G19Rik UTSW 17 56,883,500 (GRCm38) splice site probably null
R4860:1700061G19Rik UTSW 17 56,888,655 (GRCm38) missense probably benign 0.09
R4860:1700061G19Rik UTSW 17 56,888,655 (GRCm38) missense probably benign 0.09
R4887:1700061G19Rik UTSW 17 56,876,324 (GRCm38) missense possibly damaging 0.84
R5043:1700061G19Rik UTSW 17 56,885,198 (GRCm38) missense probably damaging 1.00
R5112:1700061G19Rik UTSW 17 56,877,465 (GRCm38) missense probably benign 0.03
R5161:1700061G19Rik UTSW 17 56,882,888 (GRCm38) missense possibly damaging 0.84
R5214:1700061G19Rik UTSW 17 56,886,493 (GRCm38) missense probably benign
R5287:1700061G19Rik UTSW 17 56,876,221 (GRCm38) unclassified probably benign
R5403:1700061G19Rik UTSW 17 56,876,221 (GRCm38) unclassified probably benign
R5779:1700061G19Rik UTSW 17 56,881,061 (GRCm38) missense probably benign 0.02
R5997:1700061G19Rik UTSW 17 56,876,373 (GRCm38) missense probably benign 0.02
R6198:1700061G19Rik UTSW 17 56,882,679 (GRCm38) missense probably damaging 1.00
R6259:1700061G19Rik UTSW 17 56,877,513 (GRCm38) missense probably benign 0.04
R6357:1700061G19Rik UTSW 17 56,877,591 (GRCm38) critical splice donor site probably null
R6754:1700061G19Rik UTSW 17 56,883,358 (GRCm38) missense probably damaging 0.99
R6842:1700061G19Rik UTSW 17 56,877,432 (GRCm38) missense probably benign 0.00
R7042:1700061G19Rik UTSW 17 56,885,098 (GRCm38) missense possibly damaging 0.73
R7181:1700061G19Rik UTSW 17 56,881,037 (GRCm38) missense probably benign 0.03
R7445:1700061G19Rik UTSW 17 56,882,973 (GRCm38) missense possibly damaging 0.64
R7511:1700061G19Rik UTSW 17 56,882,954 (GRCm38) missense probably damaging 0.98
R8122:1700061G19Rik UTSW 17 56,886,670 (GRCm38) missense possibly damaging 0.50
R8553:1700061G19Rik UTSW 17 56,881,021 (GRCm38) missense probably benign 0.02
R8919:1700061G19Rik UTSW 17 56,882,218 (GRCm38) missense probably benign 0.00
R9460:1700061G19Rik UTSW 17 56,876,316 (GRCm38) missense probably damaging 0.99
R9469:1700061G19Rik UTSW 17 56,876,283 (GRCm38) missense probably benign 0.00
R9766:1700061G19Rik UTSW 17 56,882,177 (GRCm38) missense probably benign 0.02
Z1177:1700061G19Rik UTSW 17 56,883,463 (GRCm38) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GCTCCACTTCCTAGAGAAGGGGATG -3'
(R):5'- GCCTGCCTTTCCAAAGAGGCTTA -3'

Sequencing Primer
(F):5'- CTAGAGAAGGGGATGTTTGGG -3'
(R):5'- ctcaccagtctcctcccc -3'
Posted On 2013-05-23