Incidental Mutation 'R9666:Rnf207'
ID 735703
Institutional Source Beutler Lab
Gene Symbol Rnf207
Ensembl Gene ENSMUSG00000058498
Gene Name ring finger protein 207
Synonyms D330010C22Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R9666 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 152391476-152403450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 152397717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 346 (F346I)
Ref Sequence ENSEMBL: ENSMUSP00000075540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076183] [ENSMUST00000130008] [ENSMUST00000170820]
AlphaFold Q3V3A7
Predicted Effect probably damaging
Transcript: ENSMUST00000076183
AA Change: F346I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075540
Gene: ENSMUSG00000058498
AA Change: F346I

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 probably benign
Transcript: ENSMUST00000130008
SMART Domains Protein: ENSMUSP00000127196
Gene: ENSMUSG00000058498

DomainStartEndE-ValueType
RING 25 63 5.6e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000170820
AA Change: F311I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129400
Gene: ENSMUSG00000058498
AA Change: F311I

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 C A 12: 118,838,422 (GRCm39) V1047L probably damaging Het
Akap6 G A 12: 53,188,318 (GRCm39) A1911T probably benign Het
Ank2 T A 3: 126,726,838 (GRCm39) K819* probably null Het
Apc2 A G 10: 80,147,183 (GRCm39) R746G possibly damaging Het
Baz1a A G 12: 54,988,345 (GRCm39) I268T probably benign Het
Bysl A G 17: 47,914,865 (GRCm39) I206T probably benign Het
Ccdc70 A C 8: 22,463,357 (GRCm39) E49A possibly damaging Het
Chd1 A T 17: 15,955,976 (GRCm39) H525L probably damaging Het
Col4a4 T C 1: 82,496,670 (GRCm39) E442G unknown Het
Cpd G A 11: 76,693,133 (GRCm39) P718S probably benign Het
Dip2b T A 15: 100,107,461 (GRCm39) I1391N probably damaging Het
Dpp9 T C 17: 56,501,946 (GRCm39) T541A probably damaging Het
Dst C T 1: 34,218,947 (GRCm39) Q1796* probably null Het
Gm10267 T C 18: 44,291,397 (GRCm39) I25V probably benign Het
Gm32742 C T 9: 51,061,441 (GRCm39) R744Q probably benign Het
Gm37240 T C 3: 84,422,952 (GRCm39) Y139C probably damaging Het
Gm39115 A G 7: 141,689,255 (GRCm39) C173R unknown Het
Grm6 T G 11: 50,750,877 (GRCm39) V680G probably damaging Het
Grxcr2 C T 18: 42,131,956 (GRCm39) D38N probably damaging Het
Iah1 G A 12: 21,366,587 (GRCm39) R52H probably damaging Het
Ift43 A G 12: 86,131,920 (GRCm39) Y36C possibly damaging Het
Igf2r T C 17: 12,945,588 (GRCm39) I334V probably benign Het
Igfn1 T A 1: 135,897,692 (GRCm39) Q958L possibly damaging Het
Il4i1 G A 7: 44,489,263 (GRCm39) A343T possibly damaging Het
Ints1 T C 5: 139,748,217 (GRCm39) I1128V probably benign Het
Irx1 C A 13: 72,111,588 (GRCm39) G7V probably damaging Het
Krr1 A G 10: 111,818,896 (GRCm39) R312G possibly damaging Het
Lmna CAGCACGGTGCGTGAGC CAGC 3: 88,389,857 (GRCm39) probably null Het
Lpin2 A T 17: 71,529,065 (GRCm39) N108Y probably damaging Het
Man2a1 A T 17: 64,943,557 (GRCm39) E204V possibly damaging Het
Megf8 A G 7: 25,030,166 (GRCm39) T434A possibly damaging Het
Minar1 A T 9: 89,484,072 (GRCm39) S442T probably benign Het
Muc16 T C 9: 18,567,285 (GRCm39) T1745A unknown Het
Mycbp2 G T 14: 103,371,474 (GRCm39) P4135T probably damaging Het
Nuggc T C 14: 65,857,045 (GRCm39) V398A possibly damaging Het
Or1e22 A G 11: 73,376,885 (GRCm39) I255T probably damaging Het
Or1e29 A T 11: 73,667,976 (GRCm39) M59K probably damaging Het
Or5w11 C T 2: 87,459,152 (GRCm39) A115V possibly damaging Het
Or6a2 A T 7: 106,600,099 (GRCm39) S323T probably benign Het
Or6e1 G T 14: 54,520,342 (GRCm39) N3K probably damaging Het
Or6f1 A G 7: 85,970,444 (GRCm39) S239P probably damaging Het
Parg A G 14: 31,964,294 (GRCm39) N653S probably damaging Het
Plek A G 11: 16,945,346 (GRCm39) F18L probably benign Het
Pnoc A G 14: 65,639,247 (GRCm39) I206T possibly damaging Het
Ppp4r3a T C 12: 101,049,129 (GRCm39) M1V probably null Het
Pramel21 A G 4: 143,341,699 (GRCm39) T43A probably benign Het
Psg22 T C 7: 18,458,248 (GRCm39) V313A probably benign Het
Ptk2b G T 14: 66,409,546 (GRCm39) P497T probably damaging Het
Rer1 A G 4: 155,160,044 (GRCm39) probably null Het
Rnf130 A G 11: 49,986,618 (GRCm39) T321A probably benign Het
Rraga T A 4: 86,494,574 (GRCm39) I140N possibly damaging Het
Rusc2 A T 4: 43,416,262 (GRCm39) M523L probably benign Het
Sh3bp1 T A 15: 78,792,622 (GRCm39) V495D probably benign Het
Slc44a5 T C 3: 153,945,926 (GRCm39) L153P probably benign Het
Spag16 T C 1: 70,764,072 (GRCm39) S631P probably damaging Het
Syne1 A C 10: 4,984,937 (GRCm39) L747R probably damaging Het
Tac1 A G 6: 7,555,675 (GRCm39) E21G probably benign Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tln1 T C 4: 43,542,957 (GRCm39) D1344G probably damaging Het
Tnc C T 4: 63,926,045 (GRCm39) E912K probably damaging Het
Trav16d-dv11 A G 14: 53,285,037 (GRCm39) T38A probably benign Het
Trbv15 T A 6: 41,118,364 (GRCm39) L40Q probably damaging Het
Trpa1 T C 1: 14,973,455 (GRCm39) I288V possibly damaging Het
Ttn A T 2: 76,604,941 (GRCm39) I18331N probably damaging Het
Tubgcp2 A T 7: 139,587,836 (GRCm39) I263N probably damaging Het
Ugt8a T C 3: 125,708,957 (GRCm39) H51R probably benign Het
Vmn2r2 T C 3: 64,023,870 (GRCm39) T904A probably benign Het
Zfp575 G A 7: 24,285,323 (GRCm39) T106M probably damaging Het
Zfp617 A G 8: 72,686,539 (GRCm39) T290A probably benign Het
Zfp809 T C 9: 22,149,863 (GRCm39) V120A probably benign 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
R5603:Rnf207 UTSW 4 152,396,851 (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
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'- TCTCAGCCGTTCATGACCAAG -3'
(R):5'- GCTGATGGAGAGACTTCAAGGC -3'

Sequencing Primer
(F):5'- GTTCATGACCAAGCTGCTCG -3'
(R):5'- GAGACTTCAAGGCATCGTCACG -3'
Posted On 2022-11-14