Incidental Mutation 'R0070:Rnf32'
ID 64448
Institutional Source Beutler Lab
Gene Symbol Rnf32
Ensembl Gene ENSMUSG00000029130
Gene Name ring finger protein 32
Synonyms 4930542N22Rik, 2700025B22Rik, 1700009J01Rik, Lmbr2
MMRRC Submission 038361-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R0070 (G1)
Quality Score 169
Status Validated
Chromosome 5
Chromosomal Location 29400990-29433455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29430125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 315 (T315A)
Ref Sequence ENSEMBL: ENSMUSP00000132213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001247] [ENSMUST00000055195] [ENSMUST00000160246] [ENSMUST00000160383] [ENSMUST00000168460] [ENSMUST00000179191]
AlphaFold Q9JIT1
Predicted Effect probably benign
Transcript: ENSMUST00000001247
AA Change: T315A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000001247
Gene: ENSMUSG00000029130
AA Change: T315A

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: ENSMUST00000055195
SMART Domains Protein: ENSMUSP00000058405
Gene: ENSMUSG00000010721

DomainStartEndE-ValueType
Pfam:LMBR1 26 281 3.5e-46 PFAM
Pfam:LMBR1 239 445 1.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160246
AA Change: T315A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124657
Gene: ENSMUSG00000029130
AA Change: T315A

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 unknown
Transcript: ENSMUST00000162975
AA Change: T221A
SMART Domains Protein: ENSMUSP00000123952
Gene: ENSMUSG00000029130
AA Change: T221A

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 noncoding transcript
Transcript: ENSMUST00000163050
SMART Domains Protein: ENSMUSP00000125528
Gene: ENSMUSG00000029130

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168460
AA Change: T315A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132213
Gene: ENSMUSG00000029130
AA Change: T315A

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: ENSMUST00000179191
SMART Domains Protein: ENSMUSP00000136160
Gene: ENSMUSG00000010721

DomainStartEndE-ValueType
Pfam:LMBR1 23 108 6e-31 PFAM
Pfam:LMBR1 106 418 5.3e-99 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (68/70)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T C 17: 56,109,154 (GRCm39) I387T probably damaging Het
Alpi A G 1: 87,028,881 (GRCm39) probably benign Het
Ankfn1 A T 11: 89,283,128 (GRCm39) L173Q probably damaging Het
Atp2a1 T C 7: 126,046,624 (GRCm39) E892G probably benign Het
AU018091 T C 7: 3,208,738 (GRCm39) probably null Het
Capn12 T C 7: 28,588,551 (GRCm39) probably benign Het
Capn2 C A 1: 182,301,434 (GRCm39) probably benign Het
Cd79b A G 11: 106,202,744 (GRCm39) probably benign Het
Cdh20 C T 1: 110,026,102 (GRCm39) A446V probably benign Het
Ciapin1 T C 8: 95,551,847 (GRCm39) N246S possibly damaging Het
Cmip T A 8: 118,153,293 (GRCm39) I270N probably damaging Het
Cyp2d40 A G 15: 82,644,975 (GRCm39) V225A unknown Het
Dnah9 A G 11: 66,050,866 (GRCm39) V142A probably benign Het
Dnai4 A T 4: 102,917,131 (GRCm39) I571K probably damaging Het
Flt3 A G 5: 147,309,536 (GRCm39) probably benign Het
Gm10238 A G 15: 75,109,434 (GRCm39) noncoding transcript Het
Gm4787 T A 12: 81,425,840 (GRCm39) D106V probably damaging Het
Hipk2 G A 6: 38,795,919 (GRCm39) R117* probably null Het
Hycc1 T C 5: 24,169,997 (GRCm39) S451G probably damaging Het
Ifna11 A G 4: 88,738,512 (GRCm39) D106G possibly damaging Het
Igkv1-115 G A 6: 68,138,402 (GRCm39) V2I probably benign Het
Itga6 T C 2: 71,657,060 (GRCm39) probably benign Het
Kcnj6 C A 16: 94,742,056 (GRCm39) K5N probably benign Het
Kcnt1 T C 2: 25,782,374 (GRCm39) V191A probably benign Het
Lcorl G A 5: 45,891,043 (GRCm39) R437C probably damaging Het
Man2a1 G A 17: 64,966,074 (GRCm39) probably null Het
Map3k14 T A 11: 103,130,380 (GRCm39) probably null Het
Mtch1 T A 17: 29,559,033 (GRCm39) probably benign Het
Myo1c A G 11: 75,551,076 (GRCm39) N217S probably benign Het
Or2h15 A G 17: 38,441,780 (GRCm39) L101P probably damaging Het
Or2w4 T C 13: 21,795,431 (GRCm39) K236R possibly damaging Het
Orm3 A G 4: 63,274,883 (GRCm39) T64A probably benign Het
Phf20l1 T G 15: 66,511,840 (GRCm39) W940G probably damaging Het
Phldb1 C T 9: 44,619,201 (GRCm39) R844H probably damaging Het
Piezo2 T C 18: 63,235,155 (GRCm39) D814G probably damaging Het
Pkd2 T C 5: 104,614,856 (GRCm39) C233R probably damaging Het
Prkd3 A G 17: 79,261,939 (GRCm39) Y792H probably damaging Het
Pth1r A T 9: 110,556,618 (GRCm39) probably null Het
Pxdn T C 12: 30,032,726 (GRCm39) L146S probably damaging Het
Rpl5 T C 5: 108,049,766 (GRCm39) Y12H probably benign Het
Serpinh1 A T 7: 98,998,521 (GRCm39) S36R probably damaging Het
Setx A T 2: 29,051,537 (GRCm39) T2030S probably benign Het
Sf3a3 G A 4: 124,608,748 (GRCm39) V21I probably benign Het
Sin3b T A 8: 73,452,210 (GRCm39) H105Q probably damaging Het
Slitrk1 T C 14: 109,150,749 (GRCm39) probably benign Het
Slx4 A T 16: 3,805,880 (GRCm39) D557E possibly damaging Het
Sprr3 C T 3: 92,364,609 (GRCm39) M78I probably benign Het
Ssmem1 A G 6: 30,519,420 (GRCm39) E35G possibly damaging Het
Stag1 C T 9: 100,838,461 (GRCm39) P1238S probably null Het
Stra6 C T 9: 58,059,898 (GRCm39) probably benign Het
Tmem127 T C 2: 127,098,979 (GRCm39) V171A probably damaging Het
Tmem150a A G 6: 72,335,742 (GRCm39) probably null Het
Top2a C G 11: 98,905,886 (GRCm39) probably null Het
Ttn T C 2: 76,644,771 (GRCm39) probably null Het
Tusc3 G A 8: 39,530,421 (GRCm39) G129R possibly damaging Het
Uspl1 A G 5: 149,146,515 (GRCm39) Y422C probably damaging Het
Vmn2r88 A T 14: 51,651,597 (GRCm39) T312S probably benign Het
Zc3hav1l A T 6: 38,272,125 (GRCm39) S215T probably damaging Het
Zfp947 T A 17: 22,365,165 (GRCm39) T170S probably benign 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
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
R6060:Rnf32 UTSW 5 29,411,752 (GRCm39) missense probably benign 0.01
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'- TGCAGCAACTCGAAGCCAAGATAG -3'
(R):5'- TTCTTTTGGTAGCAGGAGCGACAG -3'

Sequencing Primer
(F):5'- tccacctgcctctatcctc -3'
(R):5'- CGACAGAGAGGACAGACATGG -3'
Posted On 2013-08-06