Incidental Mutation 'R6060:Rnf32'
ID 483180
Institutional Source Beutler Lab
Gene Symbol Rnf32
Ensembl Gene ENSMUSG00000029130
Gene Name ring finger protein 32
Synonyms 4930542N22Rik, 2700025B22Rik, 1700009J01Rik, Lmbr2
MMRRC Submission 044426-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R6060 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 29400990-29433455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29411752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 214 (I214L)
Ref Sequence ENSEMBL: ENSMUSP00000132213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001247] [ENSMUST00000160246] [ENSMUST00000160383] [ENSMUST00000160888] [ENSMUST00000161398] [ENSMUST00000168460] [ENSMUST00000198669]
AlphaFold Q9JIT1
Predicted Effect probably benign
Transcript: ENSMUST00000001247
AA Change: I214L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000001247
Gene: ENSMUSG00000029130
AA Change: I214L

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
low complexity region 41 55 N/A INTRINSIC
low complexity region 97 107 N/A INTRINSIC
RING 129 170 4.8e-7 SMART
IQ 187 209 1.23e-1 SMART
RING 295 357 3.84e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160246
AA Change: I214L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000124657
Gene: ENSMUSG00000029130
AA Change: I214L

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
low complexity region 41 55 N/A INTRINSIC
low complexity region 97 107 N/A INTRINSIC
RING 129 170 4.8e-7 SMART
IQ 187 209 1.23e-1 SMART
RING 295 357 3.84e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160383
SMART Domains Protein: ENSMUSP00000125515
Gene: ENSMUSG00000029130

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
low complexity region 41 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160887
Predicted Effect probably benign
Transcript: ENSMUST00000160888
SMART Domains Protein: ENSMUSP00000124499
Gene: ENSMUSG00000029130

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
low complexity region 41 55 N/A INTRINSIC
low complexity region 97 107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161398
SMART Domains Protein: ENSMUSP00000125741
Gene: ENSMUSG00000029130

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
low complexity region 24 38 N/A INTRINSIC
low complexity region 80 90 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000162975
AA Change: I176L
SMART Domains Protein: ENSMUSP00000123952
Gene: ENSMUSG00000029130
AA Change: I176L

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 60 70 N/A INTRINSIC
RING 92 133 4.8e-7 SMART
IQ 150 172 1.23e-1 SMART
RING 202 264 3.84e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168460
AA Change: I214L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000132213
Gene: ENSMUSG00000029130
AA Change: I214L

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
low complexity region 41 55 N/A INTRINSIC
low complexity region 97 107 N/A INTRINSIC
RING 129 170 4.8e-7 SMART
IQ 187 209 1.23e-1 SMART
RING 295 357 3.84e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198669
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A G 16: 88,966,630 (GRCm39) probably null Het
Adh1 T C 3: 137,992,544 (GRCm39) I220T probably damaging Het
Ajap1 G A 4: 153,516,699 (GRCm39) T214I probably damaging Het
Ank2 A G 3: 126,749,601 (GRCm39) F476S probably damaging Het
Atp6v1g3 A G 1: 138,201,582 (GRCm39) K27E possibly damaging Het
BC034090 A G 1: 155,117,245 (GRCm39) I291T probably benign Het
Cnot9 T A 1: 74,556,285 (GRCm39) N27K probably benign Het
Cyp2c70 A T 19: 40,153,857 (GRCm39) L244* probably null Het
Cyp2d22 T C 15: 82,260,086 (GRCm39) T6A probably benign Het
D630045J12Rik T C 6: 38,107,799 (GRCm39) E1829G probably damaging Het
Dnajc4 G T 19: 6,968,093 (GRCm39) S61* probably null Het
Dpysl4 A G 7: 138,669,324 (GRCm39) M1V probably null Het
Fam149a T A 8: 45,811,799 (GRCm39) probably benign Het
Fam184b T C 5: 45,710,489 (GRCm39) E547G probably damaging Het
Fam47e T A 5: 92,727,472 (GRCm39) F127I possibly damaging Het
Ifi207 G A 1: 173,558,093 (GRCm39) T215I unknown Het
Iftap T C 2: 101,440,950 (GRCm39) K18E probably benign Het
Lpxn T C 19: 12,810,489 (GRCm39) L311P probably damaging Het
Lrp1b A T 2: 40,640,946 (GRCm39) N3499K Het
Mknk2 A T 10: 80,507,468 (GRCm39) D76E probably benign Het
Nectin2 A T 7: 19,451,700 (GRCm39) Y445N probably damaging Het
Ngb A C 12: 87,146,963 (GRCm39) S85A probably benign Het
Nrp1 C A 8: 129,224,419 (GRCm39) H727Q probably damaging Het
Or5b112 C T 19: 13,319,497 (GRCm39) A125V probably benign Het
Or6k2 C A 1: 173,986,907 (GRCm39) C189* probably null Het
Pold3 A C 7: 99,749,819 (GRCm39) Y115* probably null Het
Ppp1r12b C G 1: 134,883,262 (GRCm39) V87L probably benign Het
Ppp1r26 A G 2: 28,341,042 (GRCm39) N224S probably benign Het
Prl7a1 G A 13: 27,821,571 (GRCm39) P122S probably damaging Het
Rc3h2 T C 2: 37,289,612 (GRCm39) H400R possibly damaging Het
Safb2 A T 17: 56,870,246 (GRCm39) probably null Het
Serpinb6e A G 13: 34,025,256 (GRCm39) C12R possibly damaging Het
Sh2b2 A T 5: 136,261,209 (GRCm39) N2K possibly damaging Het
Slc12a4 G A 8: 106,672,338 (GRCm39) A821V probably damaging Het
Slc41a1 A G 1: 131,767,972 (GRCm39) M179V probably benign Het
Slc9a3 A G 13: 74,299,004 (GRCm39) Y141C probably damaging Het
Tenm4 G A 7: 96,522,918 (GRCm39) V1450I probably damaging Het
Trmt1l A G 1: 151,333,331 (GRCm39) N642S possibly damaging Het
Ttll13 G A 7: 79,908,491 (GRCm39) R576H probably damaging Het
Zar1 T A 5: 72,738,272 (GRCm39) R43S probably benign Het
Zfp455 A G 13: 67,355,257 (GRCm39) Y175C probably damaging Het
Other mutations in Rnf32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01591:Rnf32 APN 5 29,429,272 (GRCm39) missense probably damaging 1.00
IGL01786:Rnf32 APN 5 29,411,812 (GRCm39) unclassified probably benign
IGL02832:Rnf32 APN 5 29,410,701 (GRCm39) critical splice donor site probably null
IGL02976:Rnf32 APN 5 29,411,710 (GRCm39) splice site probably null
R0038:Rnf32 UTSW 5 29,410,652 (GRCm39) unclassified probably benign
R0038:Rnf32 UTSW 5 29,410,652 (GRCm39) unclassified probably benign
R0070:Rnf32 UTSW 5 29,430,125 (GRCm39) missense probably benign 0.00
R1812:Rnf32 UTSW 5 29,411,258 (GRCm39) missense possibly damaging 0.88
R2279:Rnf32 UTSW 5 29,430,278 (GRCm39) missense probably benign 0.36
R4903:Rnf32 UTSW 5 29,403,576 (GRCm39) missense probably benign 0.00
R4964:Rnf32 UTSW 5 29,403,576 (GRCm39) missense probably benign 0.00
R4966:Rnf32 UTSW 5 29,403,576 (GRCm39) missense probably benign 0.00
R5155:Rnf32 UTSW 5 29,408,145 (GRCm39) missense probably damaging 1.00
R5987:Rnf32 UTSW 5 29,408,145 (GRCm39) missense probably damaging 1.00
R6374:Rnf32 UTSW 5 29,430,266 (GRCm39) nonsense probably null
R7627:Rnf32 UTSW 5 29,402,948 (GRCm39) start gained probably benign
R9161:Rnf32 UTSW 5 29,408,058 (GRCm39) missense probably damaging 1.00
R9178:Rnf32 UTSW 5 29,411,211 (GRCm39) missense possibly damaging 0.54
R9457:Rnf32 UTSW 5 29,411,184 (GRCm39) missense probably damaging 1.00
R9494:Rnf32 UTSW 5 29,429,145 (GRCm39) missense probably damaging 1.00
R9794:Rnf32 UTSW 5 29,429,125 (GRCm39) missense probably damaging 0.96
Z1176:Rnf32 UTSW 5 29,430,248 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGAAGTACTTGTTAAAGAAGGCC -3'
(R):5'- TGGAGGCCATCGAGTTGAAC -3'

Sequencing Primer
(F):5'- AATGTGGCTGTCAACCATCTG -3'
(R):5'- GCCATCGAGTTGAACAAAGC -3'
Posted On 2017-07-14