Incidental Mutation 'R7140:Rnft1'
ID 553414
Institutional Source Beutler Lab
Gene Symbol Rnft1
Ensembl Gene ENSMUSG00000020521
Gene Name ring finger protein, transmembrane 1
Synonyms 0610013E23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R7140 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 86375483-86389833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86382586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 270 (I270V)
Ref Sequence ENSEMBL: ENSMUSP00000020827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020827]
AlphaFold Q9DCN7
Predicted Effect probably benign
Transcript: ENSMUST00000020827
AA Change: I270V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020827
Gene: ENSMUSG00000020521
AA Change: I270V

DomainStartEndE-ValueType
low complexity region 92 104 N/A INTRINSIC
transmembrane domain 125 147 N/A INTRINSIC
transmembrane domain 168 190 N/A INTRINSIC
transmembrane domain 210 232 N/A INTRINSIC
transmembrane domain 244 266 N/A INTRINSIC
transmembrane domain 281 303 N/A INTRINSIC
RING 335 372 1.67e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (70/71)
Allele List at MGI

All alleles(5) : Targeted, other(1) Gene trapped(4)

Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 T C 8: 27,610,929 (GRCm39) probably null Het
Ap2a2 G A 7: 141,178,777 (GRCm39) A148T probably benign Het
Arhgef3 A T 14: 27,123,664 (GRCm39) N442Y probably damaging Het
B3gat3 A G 19: 8,903,216 (GRCm39) Y191C probably damaging Het
B430306N03Rik A T 17: 48,629,483 (GRCm39) K203* probably null Het
C1qtnf6 T A 15: 78,409,283 (GRCm39) Y188F probably benign Het
Capn10 T C 1: 92,872,993 (GRCm39) V573A possibly damaging Het
Cbx4 T C 11: 118,972,754 (GRCm39) Y207C probably damaging Het
Ccdc43 G T 11: 102,579,695 (GRCm39) probably null Het
Ccng2 C A 5: 93,416,614 (GRCm39) P45Q probably benign Het
Cd86 T C 16: 36,441,263 (GRCm39) H68R probably benign Het
Cmtm4 A G 8: 105,081,827 (GRCm39) Y187H probably damaging Het
Cst11 T C 2: 148,610,649 (GRCm39) N134S probably benign Het
Cyp3a25 A T 5: 145,939,855 (GRCm39) F51I probably benign Het
Dnhd1 A G 7: 105,342,973 (GRCm39) E1439G probably benign Het
Dock4 T C 12: 40,686,158 (GRCm39) V131A probably benign Het
Dpysl2 A G 14: 67,099,982 (GRCm39) S85P probably benign Het
Dync1i2 A G 2: 71,078,283 (GRCm39) H324R probably benign Het
Elf1 A G 14: 79,804,710 (GRCm39) D162G probably benign Het
Eri3 G A 4: 117,506,604 (GRCm39) probably null Het
Fbxl21 T C 13: 56,680,145 (GRCm39) S203P probably damaging Het
Foxi1 G A 11: 34,155,758 (GRCm39) R291C probably damaging Het
Gprin3 C T 6: 59,332,128 (GRCm39) A60T possibly damaging Het
Hecw1 A G 13: 14,491,118 (GRCm39) C212R probably benign Het
Hivep3 T C 4: 119,954,318 (GRCm39) L878P probably damaging Het
Hs6st3 A T 14: 119,376,514 (GRCm39) N230Y probably damaging Het
Htr3b A G 9: 48,848,441 (GRCm39) V268A possibly damaging Het
Ip6k3 T C 17: 27,363,969 (GRCm39) T360A probably damaging Het
Izumo1 A G 7: 45,275,536 (GRCm39) T282A probably benign Het
Kidins220 T A 12: 25,086,623 (GRCm39) I1019N probably damaging Het
Med13l T C 5: 118,880,037 (GRCm39) V1043A probably benign Het
Mon2 C T 10: 122,871,358 (GRCm39) V420I probably benign Het
Naip6 T A 13: 100,436,708 (GRCm39) Y605F possibly damaging Het
Nek7 A G 1: 138,414,793 (GRCm39) I285T probably benign Het
Notch3 A G 17: 32,375,351 (GRCm39) V357A possibly damaging Het
Nrxn1 G A 17: 91,396,192 (GRCm39) probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or2w4 C T 13: 21,795,297 (GRCm39) V281M possibly damaging Het
Or4a67 G A 2: 88,598,308 (GRCm39) A117V probably damaging Het
Or5g9 T A 2: 85,551,818 (GRCm39) L23Q probably damaging Het
Or6c74 T G 10: 129,870,083 (GRCm39) M196R possibly damaging Het
Ostm1 C T 10: 42,559,268 (GRCm39) A176V probably null Het
Pabpc6 C A 17: 9,887,357 (GRCm39) S398I possibly damaging Het
Pcdhac2 C A 18: 37,277,239 (GRCm39) P73H possibly damaging Het
Pcdhga9 A G 18: 37,872,184 (GRCm39) D671G possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pigu A C 2: 155,143,160 (GRCm39) L248R possibly damaging Het
Pinx1 C A 14: 64,097,834 (GRCm39) probably null Het
Pon3 T C 6: 5,221,664 (GRCm39) N322S possibly damaging Het
Pramel23 T G 4: 143,425,002 (GRCm39) H147P probably benign Het
Scgb2b11 A G 7: 31,910,006 (GRCm39) F27L probably damaging Het
Slc5a4b C T 10: 75,910,943 (GRCm39) V298I probably damaging Het
Slco1a6 T A 6: 142,048,745 (GRCm39) H345L probably benign Het
Sox1 C T 8: 12,447,405 (GRCm39) P349S possibly damaging Het
Spata31 A G 13: 65,068,913 (GRCm39) N354D probably benign Het
Speg T C 1: 75,383,414 (GRCm39) probably null Het
Stpg1 T C 4: 135,261,033 (GRCm39) I281T probably benign Het
Sult3a1 T C 10: 33,753,283 (GRCm39) L193P probably damaging Het
Tenm3 A T 8: 48,745,271 (GRCm39) C1097S probably damaging Het
Tfap2a A G 13: 40,883,523 (GRCm39) S7P probably benign Het
Tlr1 T C 5: 65,083,021 (GRCm39) I519V probably benign Het
Tmem238 A G 7: 4,792,072 (GRCm39) V157A possibly damaging Het
Tmem45b A T 9: 31,345,780 (GRCm39) probably null Het
Togaram2 A T 17: 72,021,761 (GRCm39) H742L probably benign Het
Trpc7 A T 13: 56,937,487 (GRCm39) Y656* probably null Het
Wdr35 T A 12: 9,072,785 (GRCm39) Y920N probably damaging Het
Xab2 G A 8: 3,668,117 (GRCm39) R154C possibly damaging Het
Zfp759 A T 13: 67,288,177 (GRCm39) H576L possibly damaging Het
Zfp958 G T 8: 4,678,481 (GRCm39) A169S probably benign Het
Other mutations in Rnft1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Rnft1 APN 11 86,386,740 (GRCm39) missense probably damaging 1.00
1mM(1):Rnft1 UTSW 11 86,377,302 (GRCm39) missense probably benign 0.34
R1721:Rnft1 UTSW 11 86,377,096 (GRCm39) missense probably benign 0.26
R5560:Rnft1 UTSW 11 86,384,022 (GRCm39) missense probably benign 0.04
R5640:Rnft1 UTSW 11 86,377,319 (GRCm39) nonsense probably null
R5683:Rnft1 UTSW 11 86,382,616 (GRCm39) missense probably benign 0.00
R5771:Rnft1 UTSW 11 86,384,032 (GRCm39) nonsense probably null
R6471:Rnft1 UTSW 11 86,382,508 (GRCm39) missense possibly damaging 0.79
R6919:Rnft1 UTSW 11 86,386,156 (GRCm39) critical splice donor site probably null
R7593:Rnft1 UTSW 11 86,384,023 (GRCm39) nonsense probably null
R8497:Rnft1 UTSW 11 86,386,132 (GRCm39) nonsense probably null
R8879:Rnft1 UTSW 11 86,377,516 (GRCm39) missense possibly damaging 0.58
R9173:Rnft1 UTSW 11 86,377,001 (GRCm39) missense probably benign 0.00
R9468:Rnft1 UTSW 11 86,381,242 (GRCm39) missense probably benign 0.27
R9513:Rnft1 UTSW 11 86,377,065 (GRCm39) missense possibly damaging 0.80
X0023:Rnft1 UTSW 11 86,382,518 (GRCm39) missense probably damaging 0.98
Z1177:Rnft1 UTSW 11 86,377,116 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGCCATGTAATGACAATGGTATGTG -3'
(R):5'- AGGTAAGAGGCTGTCATTACTTTC -3'

Sequencing Primer
(F):5'- GACAATGGTATGTGATAGTCAAGTC -3'
(R):5'- GAGGCTGTCATTACTTTCAATTAGTG -3'
Posted On 2019-05-15