Incidental Mutation 'R5603:Rnf207'
ID 439123
Institutional Source Beutler Lab
Gene Symbol Rnf207
Ensembl Gene ENSMUSG00000058498
Gene Name ring finger protein 207
Synonyms D330010C22Rik
MMRRC Submission 043155-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R5603 (G1)
Quality Score 220
Status Not validated
Chromosome 4
Chromosomal Location 152391476-152403450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152396851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 396 (Y396C)
Ref Sequence ENSEMBL: ENSMUSP00000129400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076183] [ENSMUST00000130008] [ENSMUST00000170820]
AlphaFold Q3V3A7
Predicted Effect probably damaging
Transcript: ENSMUST00000076183
AA Change: Y431C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075540
Gene: ENSMUSG00000058498
AA Change: Y431C

DomainStartEndE-ValueType
RING 25 63 1.16e-5 SMART
Pfam:zf-B_box 93 145 3.6e-11 PFAM
Pfam:DUF3583 204 378 1.2e-10 PFAM
coiled coil region 422 461 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000108688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127565
Predicted Effect probably benign
Transcript: ENSMUST00000130008
SMART Domains Protein: ENSMUSP00000127196
Gene: ENSMUSG00000058498

DomainStartEndE-ValueType
RING 25 63 5.6e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134269
Predicted Effect probably damaging
Transcript: ENSMUST00000170820
AA Change: Y396C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129400
Gene: ENSMUSG00000058498
AA Change: Y396C

DomainStartEndE-ValueType
RING 25 63 1.16e-5 SMART
Pfam:zf-B_box 93 145 1e-11 PFAM
low complexity region 236 242 N/A INTRINSIC
low complexity region 315 326 N/A INTRINSIC
coiled coil region 387 426 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143968
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baiap2l1 A G 5: 144,202,787 (GRCm39) S509P probably damaging Het
Bud31 T C 5: 145,081,769 (GRCm39) I52T possibly damaging Het
Cacna1g C T 11: 94,330,578 (GRCm39) S979N possibly damaging Het
Cacna2d4 T A 6: 119,221,246 (GRCm39) W253R probably damaging Het
Ccna1 A G 3: 54,958,330 (GRCm39) Y118H probably damaging Het
Cct8l1 A G 5: 25,721,497 (GRCm39) T71A probably benign Het
Chaf1b A G 16: 93,689,683 (GRCm39) T19A probably damaging Het
Col6a2 A T 10: 76,432,603 (GRCm39) V850D probably damaging Het
Cpsf2 C A 12: 101,964,890 (GRCm39) Q513K probably benign Het
Dnah5 T G 15: 28,420,078 (GRCm39) V3792G probably damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Exoc6b T C 6: 84,812,126 (GRCm39) D625G possibly damaging Het
Gad1 C A 2: 70,420,173 (GRCm39) F352L probably damaging Het
Gm5422 T A 10: 31,126,840 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,900,395 (GRCm39) E162G probably damaging Het
Grm6 T A 11: 50,747,786 (GRCm39) F333I probably damaging Het
Heatr5a A G 12: 51,924,358 (GRCm39) F1952L probably benign Het
Ighv1-42 C T 12: 114,901,132 (GRCm39) probably benign Het
Itgb6 T C 2: 60,450,706 (GRCm39) T578A probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mfsd14b T C 13: 65,221,420 (GRCm39) K291E probably benign Het
Mllt6 T C 11: 97,564,331 (GRCm39) L379P probably damaging Het
Mtmr6 A T 14: 60,522,450 (GRCm39) K183* probably null Het
Mylk A G 16: 34,776,862 (GRCm39) N1345S probably benign Het
Nab2 A T 10: 127,500,990 (GRCm39) M1K probably null Het
Ngly1 C A 14: 16,260,762 (GRCm38) Q149K probably benign Het
Npy6r T A 18: 44,409,652 (GRCm39) S358T probably damaging Het
Pbld2 A G 10: 62,907,228 (GRCm39) T156A probably benign Het
Pik3cd A T 4: 149,743,312 (GRCm39) C263S probably benign Het
Pramel21 T A 4: 143,344,066 (GRCm39) C455* probably null Het
Ptk2b A T 14: 66,409,514 (GRCm39) Y507* probably null Het
Rbm25 C T 12: 83,710,990 (GRCm39) R368* probably null Het
Skint2 T A 4: 112,506,961 (GRCm39) V328E possibly damaging Het
Slc3a2 A G 19: 8,691,092 (GRCm39) V7A probably benign Het
Spata18 G A 5: 73,828,575 (GRCm39) V265I probably benign Het
Tmem120b T A 5: 123,239,705 (GRCm39) V108D possibly damaging Het
Ugt1a2 T C 1: 88,129,148 (GRCm39) Y264H probably damaging Het
Other mutations in Rnf207
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01643:Rnf207 APN 4 152,402,718 (GRCm39) splice site probably benign
IGL02325:Rnf207 APN 4 152,396,237 (GRCm39) missense probably damaging 0.97
IGL02451:Rnf207 APN 4 152,396,869 (GRCm39) missense probably benign 0.25
felonius UTSW 4 152,396,237 (GRCm39) missense probably damaging 0.98
perjury UTSW 4 152,397,672 (GRCm39) missense probably benign 0.00
R0311:Rnf207 UTSW 4 152,400,236 (GRCm39) missense probably damaging 1.00
R0462:Rnf207 UTSW 4 152,397,829 (GRCm39) missense possibly damaging 0.78
R0671:Rnf207 UTSW 4 152,391,925 (GRCm39) missense probably benign 0.00
R0845:Rnf207 UTSW 4 152,396,521 (GRCm39) splice site probably benign
R1544:Rnf207 UTSW 4 152,398,328 (GRCm39) splice site probably benign
R1667:Rnf207 UTSW 4 152,397,672 (GRCm39) missense probably benign 0.00
R4052:Rnf207 UTSW 4 152,395,894 (GRCm39) missense probably benign 0.41
R4335:Rnf207 UTSW 4 152,400,062 (GRCm39) splice site probably benign
R4649:Rnf207 UTSW 4 152,396,612 (GRCm39) missense probably benign 0.06
R5033:Rnf207 UTSW 4 152,397,666 (GRCm39) missense probably benign 0.00
R5268:Rnf207 UTSW 4 152,398,346 (GRCm39) missense probably damaging 1.00
R5938:Rnf207 UTSW 4 152,402,385 (GRCm39) intron probably benign
R6147:Rnf207 UTSW 4 152,400,112 (GRCm39) missense probably damaging 1.00
R6181:Rnf207 UTSW 4 152,393,305 (GRCm39) missense probably benign 0.00
R6866:Rnf207 UTSW 4 152,396,989 (GRCm39) missense possibly damaging 0.81
R7166:Rnf207 UTSW 4 152,396,237 (GRCm39) missense probably damaging 0.98
R7177:Rnf207 UTSW 4 152,396,634 (GRCm39) missense probably benign 0.43
R7354:Rnf207 UTSW 4 152,398,548 (GRCm39) missense probably damaging 0.96
R7893:Rnf207 UTSW 4 152,395,895 (GRCm39) missense probably damaging 0.99
R8200:Rnf207 UTSW 4 152,398,492 (GRCm39) critical splice donor site probably null
R8789:Rnf207 UTSW 4 152,391,924 (GRCm39) missense probably benign 0.04
R9520:Rnf207 UTSW 4 152,396,234 (GRCm39) missense probably damaging 1.00
R9609:Rnf207 UTSW 4 152,402,222 (GRCm39) missense probably damaging 0.99
R9666:Rnf207 UTSW 4 152,397,717 (GRCm39) missense probably damaging 1.00
R9758:Rnf207 UTSW 4 152,397,666 (GRCm39) missense probably benign 0.06
R9766:Rnf207 UTSW 4 152,400,402 (GRCm39) missense probably damaging 1.00
X0026:Rnf207 UTSW 4 152,400,499 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGATCTCCGCCTTGATGAG -3'
(R):5'- AAGTCCCATGGTGCTGAAG -3'

Sequencing Primer
(F):5'- TGCAGTTCCTGGACCTGGTC -3'
(R):5'- CATGGTGCTGAAGACACCCAG -3'
Posted On 2016-10-26