Incidental Mutation 'IGL02063:Rnft2'
ID 185531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnft2
Ensembl Gene ENSMUSG00000032850
Gene Name ring finger protein, transmembrane 2
Synonyms Tmem118, B830028P19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02063
Quality Score
Status
Chromosome 5
Chromosomal Location 118328801-118383181 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 118380587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049138] [ENSMUST00000117177] [ENSMUST00000121369] [ENSMUST00000133372] [ENSMUST00000154786]
AlphaFold Q3UF64
Predicted Effect probably benign
Transcript: ENSMUST00000049138
SMART Domains Protein: ENSMUSP00000043410
Gene: ENSMUSG00000032840

DomainStartEndE-ValueType
transmembrane domain 17 35 N/A INTRINSIC
Pfam:DUF2054 70 195 2e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117177
SMART Domains Protein: ENSMUSP00000112903
Gene: ENSMUSG00000032850

DomainStartEndE-ValueType
low complexity region 110 126 N/A INTRINSIC
transmembrane domain 185 204 N/A INTRINSIC
transmembrane domain 216 238 N/A INTRINSIC
transmembrane domain 262 284 N/A INTRINSIC
RING 386 423 3.58e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121369
SMART Domains Protein: ENSMUSP00000113749
Gene: ENSMUSG00000032850

DomainStartEndE-ValueType
low complexity region 109 125 N/A INTRINSIC
transmembrane domain 184 203 N/A INTRINSIC
transmembrane domain 215 237 N/A INTRINSIC
transmembrane domain 261 283 N/A INTRINSIC
RING 385 422 3.58e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144213
Predicted Effect probably benign
Transcript: ENSMUST00000154786
SMART Domains Protein: ENSMUSP00000120260
Gene: ENSMUSG00000032850

DomainStartEndE-ValueType
low complexity region 110 126 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2b A G 12: 105,614,581 (GRCm39) Y1117H possibly damaging Het
B020004C17Rik A G 14: 57,253,480 (GRCm39) R24G probably damaging Het
BC005624 A G 2: 30,868,946 (GRCm39) M76T probably benign Het
Blm G T 7: 80,159,167 (GRCm39) S323* probably null Het
Card19 C A 13: 49,356,607 (GRCm39) G181* probably null Het
Cilp2 T C 8: 70,335,515 (GRCm39) I494M probably damaging Het
Col5a2 A G 1: 45,442,579 (GRCm39) probably null Het
Col6a4 T C 9: 105,934,617 (GRCm39) D1431G probably benign Het
Cped1 G A 6: 22,138,701 (GRCm39) C560Y probably damaging Het
Cyfip1 T C 7: 55,576,096 (GRCm39) S1091P probably damaging Het
Ddx24 A G 12: 103,384,461 (GRCm39) I466T probably damaging Het
Dlg2 T A 7: 91,459,684 (GRCm39) probably benign Het
Esf1 C A 2: 140,006,377 (GRCm39) D257Y possibly damaging Het
Fgfr2 A G 7: 129,769,485 (GRCm39) F634S probably damaging Het
Flywch2 A G 17: 23,996,081 (GRCm39) probably benign Het
Gbp10 A T 5: 105,383,906 (GRCm39) I32N possibly damaging Het
Gli3 A G 13: 15,900,957 (GRCm39) D1448G possibly damaging Het
Gm10335 T C 10: 14,399,147 (GRCm39) probably benign Het
Golga5 A T 12: 102,438,418 (GRCm39) E44D probably benign Het
H2-M10.1 C T 17: 36,634,901 (GRCm39) probably benign Het
Ino80b A T 6: 83,101,143 (GRCm39) D141E probably damaging Het
Itpr3 A G 17: 27,338,997 (GRCm39) I2593V probably benign Het
Krt73 C T 15: 101,704,204 (GRCm39) probably benign Het
Loxl4 G T 19: 42,596,778 (GRCm39) L78I probably benign Het
Mbd5 A T 2: 49,164,779 (GRCm39) N360I probably damaging Het
Nfat5 A T 8: 108,088,450 (GRCm39) M495L probably benign Het
Nrxn3 A T 12: 88,762,565 (GRCm39) E204V possibly damaging Het
Or8k21 G T 2: 86,145,137 (GRCm39) F164L possibly damaging Het
Paqr4 A T 17: 23,958,886 (GRCm39) C38* probably null Het
Pcdhb13 T A 18: 37,577,282 (GRCm39) N553K probably damaging Het
Pcdhb9 T A 18: 37,534,810 (GRCm39) M268K probably benign Het
Pdap1 A T 5: 145,071,869 (GRCm39) probably benign Het
Phf2 A T 13: 48,975,118 (GRCm39) Y281N unknown Het
Phka2 T A X: 159,347,209 (GRCm39) I664N possibly damaging Het
Plekha7 A T 7: 115,739,936 (GRCm39) D762E possibly damaging Het
Plekhg4 T A 8: 106,105,884 (GRCm39) probably benign Het
Ppfia2 A T 10: 106,740,706 (GRCm39) Q1006L probably null Het
Pramel12 C A 4: 143,144,421 (GRCm39) Q256K probably benign Het
Prmt5 G A 14: 54,748,477 (GRCm39) Q197* probably null Het
Prodh A T 16: 17,897,049 (GRCm39) probably null Het
Ptgr3 T A 18: 84,113,390 (GRCm39) Y355* probably null Het
Rp1l1 G T 14: 64,266,985 (GRCm39) S857I probably damaging Het
Samd9l A G 6: 3,372,992 (GRCm39) F1423S probably damaging Het
Scn3a A G 2: 65,291,854 (GRCm39) Y1631H probably damaging Het
Slc22a5 A T 11: 53,765,899 (GRCm39) I229K probably damaging Het
Slco1a7 T C 6: 141,684,615 (GRCm39) D280G probably benign Het
Snd1 T A 6: 28,526,220 (GRCm39) probably benign Het
Srrm1 G T 4: 135,074,518 (GRCm39) probably null Het
Syne2 T C 12: 76,098,874 (GRCm39) V5252A probably damaging Het
Tek A G 4: 94,627,882 (GRCm39) D2G probably benign Het
Uba1 T C X: 20,545,964 (GRCm39) S803P probably damaging Het
Uggt2 A G 14: 119,326,605 (GRCm39) I202T possibly damaging Het
Umodl1 A T 17: 31,206,888 (GRCm39) I760F probably benign Het
Vgll1 A G X: 56,144,569 (GRCm39) probably benign Het
Zfp236 A G 18: 82,676,276 (GRCm39) V347A probably benign Het
Zswim9 T C 7: 12,994,608 (GRCm39) E516G probably damaging Het
Other mutations in Rnft2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Rnft2 APN 5 118,339,280 (GRCm39) missense probably damaging 0.98
R0201:Rnft2 UTSW 5 118,332,745 (GRCm39) splice site probably benign
R0349:Rnft2 UTSW 5 118,339,450 (GRCm39) missense possibly damaging 0.92
R1167:Rnft2 UTSW 5 118,366,947 (GRCm39) missense possibly damaging 0.94
R1865:Rnft2 UTSW 5 118,370,540 (GRCm39) missense probably damaging 1.00
R2518:Rnft2 UTSW 5 118,332,670 (GRCm39) intron probably benign
R2876:Rnft2 UTSW 5 118,331,686 (GRCm39) missense probably damaging 0.99
R4622:Rnft2 UTSW 5 118,370,471 (GRCm39) missense probably damaging 1.00
R4623:Rnft2 UTSW 5 118,370,471 (GRCm39) missense probably damaging 1.00
R4705:Rnft2 UTSW 5 118,366,928 (GRCm39) missense probably damaging 1.00
R4796:Rnft2 UTSW 5 118,339,311 (GRCm39) missense probably damaging 1.00
R4898:Rnft2 UTSW 5 118,375,507 (GRCm39) missense probably benign 0.02
R5407:Rnft2 UTSW 5 118,380,567 (GRCm39) missense probably damaging 1.00
R5860:Rnft2 UTSW 5 118,366,868 (GRCm39) missense possibly damaging 0.92
R6875:Rnft2 UTSW 5 118,366,883 (GRCm39) missense possibly damaging 0.93
R6971:Rnft2 UTSW 5 118,332,635 (GRCm39) intron probably benign
R8266:Rnft2 UTSW 5 118,375,623 (GRCm39) missense possibly damaging 0.79
R8690:Rnft2 UTSW 5 118,366,935 (GRCm39) missense probably benign 0.01
R9371:Rnft2 UTSW 5 118,340,982 (GRCm39) missense probably damaging 1.00
R9574:Rnft2 UTSW 5 118,375,330 (GRCm39) missense probably benign
Posted On 2014-05-07