Incidental Mutation 'R4352:Rnf38'
ID 327327
Institutional Source Beutler Lab
Gene Symbol Rnf38
Ensembl Gene ENSMUSG00000035696
Gene Name ring finger protein 38
Synonyms 2610202O07Rik, 1700065B19Rik, Oip1
MMRRC Submission 041668-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.559) question?
Stock # R4352 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 44126210-44233789 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44149100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 82 (N82K)
Ref Sequence ENSEMBL: ENSMUSP00000121329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045793] [ENSMUST00000098098] [ENSMUST00000102934] [ENSMUST00000107836] [ENSMUST00000128426] [ENSMUST00000136730] [ENSMUST00000145760] [ENSMUST00000143337]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000045793
AA Change: N82K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038477
Gene: ENSMUSG00000035696
AA Change: N82K

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
low complexity region 192 207 N/A INTRINSIC
low complexity region 244 258 N/A INTRINSIC
low complexity region 287 310 N/A INTRINSIC
RING 380 420 9.09e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098098
AA Change: N114K

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095702
Gene: ENSMUSG00000035696
AA Change: N114K

DomainStartEndE-ValueType
low complexity region 24 32 N/A INTRINSIC
low complexity region 64 83 N/A INTRINSIC
low complexity region 224 239 N/A INTRINSIC
low complexity region 276 290 N/A INTRINSIC
low complexity region 319 342 N/A INTRINSIC
RING 412 452 9.09e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000102934
AA Change: N82K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099998
Gene: ENSMUSG00000035696
AA Change: N82K

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
low complexity region 192 207 N/A INTRINSIC
low complexity region 244 258 N/A INTRINSIC
low complexity region 287 310 N/A INTRINSIC
RING 380 420 9.09e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107836
AA Change: N82K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103467
Gene: ENSMUSG00000035696
AA Change: N82K

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
low complexity region 192 207 N/A INTRINSIC
low complexity region 244 258 N/A INTRINSIC
low complexity region 287 310 N/A INTRINSIC
RING 380 420 9.09e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123844
Predicted Effect probably benign
Transcript: ENSMUST00000128426
AA Change: N82K

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119889
Gene: ENSMUSG00000035696
AA Change: N82K

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
low complexity region 192 207 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153384
Predicted Effect possibly damaging
Transcript: ENSMUST00000136730
AA Change: N82K

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116642
Gene: ENSMUSG00000035696
AA Change: N82K

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
low complexity region 192 207 N/A INTRINSIC
low complexity region 244 258 N/A INTRINSIC
low complexity region 287 310 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000145760
AA Change: N82K

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121329
Gene: ENSMUSG00000035696
AA Change: N82K

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
low complexity region 192 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143337
AA Change: N82K

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122342
Gene: ENSMUSG00000035696
AA Change: N82K

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153116
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129621
Meta Mutation Damage Score 0.0596 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 96% (79/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Abtb2 T A 2: 103,513,738 (GRCm39) D382E possibly damaging Het
Adamts1 T A 16: 85,599,234 (GRCm39) D122V probably benign Het
Ankrd54 A T 15: 78,939,662 (GRCm39) F176I probably benign Het
Ano3 T A 2: 110,576,239 (GRCm39) E94V possibly damaging Het
Arid1b A T 17: 5,147,859 (GRCm39) Q587L possibly damaging Het
Atg2a G A 19: 6,307,487 (GRCm39) V1474M probably benign Het
Bcl2a1d A G 9: 88,613,552 (GRCm39) V74A probably damaging Het
Bmper A G 9: 23,395,248 (GRCm39) I660V probably benign Het
Cdh20 A G 1: 104,906,814 (GRCm39) D547G probably damaging Het
Cds2 T A 2: 132,105,365 (GRCm39) M1K probably null Het
Ctr9 T A 7: 110,648,525 (GRCm39) Y722N probably damaging Het
Ddx47 C T 6: 134,995,018 (GRCm39) T161I probably benign Het
Dvl3 T C 16: 20,344,394 (GRCm39) Y257H possibly damaging Het
Dzip1 T C 14: 119,120,938 (GRCm39) D673G probably benign Het
Efcab3 T A 11: 104,630,140 (GRCm39) L957Q probably null Het
Emilin2 T C 17: 71,587,726 (GRCm39) M129V probably benign Het
Eml1 A T 12: 108,501,096 (GRCm39) probably benign Het
Espnl A T 1: 91,262,443 (GRCm39) D296V probably damaging Het
Fam161a T G 11: 22,970,798 (GRCm39) S109R possibly damaging Het
Fat3 T G 9: 16,158,074 (GRCm39) T1179P possibly damaging Het
Gfra1 A T 19: 58,255,456 (GRCm39) N330K probably benign Het
Gfy T C 7: 44,827,040 (GRCm39) E352G probably benign Het
Gm20775 A T Y: 10,641,648 (GRCm39) noncoding transcript Het
Gm5885 T A 6: 133,508,152 (GRCm39) noncoding transcript Het
Gpatch11 T C 17: 79,148,446 (GRCm39) L128P probably damaging Het
H2-Q1 A G 17: 35,539,919 (GRCm39) N63D possibly damaging Het
Itgb2 A T 10: 77,392,001 (GRCm39) N358I probably benign Het
Jmjd1c A G 10: 67,080,588 (GRCm39) T2247A probably damaging Het
Kcnma1 T A 14: 23,361,720 (GRCm39) K1036I probably damaging Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lrch1 G T 14: 75,056,018 (GRCm39) S278R probably damaging Het
Lrp2 C A 2: 69,262,526 (GRCm39) probably null Het
Lyn G A 4: 3,789,796 (GRCm39) R443H probably damaging Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Mpzl1 G A 1: 165,433,376 (GRCm39) Q36* probably null Het
Msantd5 A G 11: 51,125,646 (GRCm39) N190D possibly damaging Het
Npr2 T C 4: 43,646,592 (GRCm39) S647P probably damaging Het
Nrp2 A G 1: 62,777,576 (GRCm39) D127G probably damaging Het
Otogl A T 10: 107,705,396 (GRCm39) C644S probably damaging Het
Pabpc4 C T 4: 123,184,060 (GRCm39) T191I probably damaging Het
Paqr3 T C 5: 97,247,455 (GRCm39) T218A probably benign Het
Pcdh7 C T 5: 57,879,361 (GRCm39) S972L possibly damaging Het
Pcnx2 T C 8: 126,489,590 (GRCm39) H1668R probably damaging Het
Prb1b T G 6: 132,290,624 (GRCm39) Y25S unknown Het
Ralb A G 1: 119,411,282 (GRCm39) M19T probably benign Het
Rcan1 A G 16: 92,190,384 (GRCm39) I185T probably benign Het
Rock1 T A 18: 10,079,237 (GRCm39) Q1077L probably damaging Het
Sesn3 C T 9: 14,231,669 (GRCm39) A200V probably damaging Het
Shh T C 5: 28,663,187 (GRCm39) E327G probably benign Het
Shmt2 G A 10: 127,354,686 (GRCm39) A333V probably damaging Het
Slc15a2 T A 16: 36,592,390 (GRCm39) I256F probably benign Het
Sptbn5 T C 2: 119,913,680 (GRCm39) noncoding transcript Het
Sst A G 16: 23,708,565 (GRCm39) S89P probably damaging Het
Taf10 A G 7: 105,392,614 (GRCm39) probably benign Het
Tas2r139 T A 6: 42,118,689 (GRCm39) W274R probably damaging Het
Tbc1d20 T A 2: 152,150,114 (GRCm39) probably benign Het
Tbc1d5 A G 17: 51,089,429 (GRCm39) S584P probably damaging Het
Tcstv1a T C 13: 120,355,407 (GRCm39) D75G probably damaging Het
Tex10 T G 4: 48,452,039 (GRCm39) T696P possibly damaging Het
Tgfbr1 T C 4: 47,402,863 (GRCm39) F206S probably damaging Het
Tmem241 A T 18: 12,246,496 (GRCm39) H51Q probably benign Het
Trim5 A T 7: 103,926,015 (GRCm39) V182D probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Txnl1 A G 18: 63,804,750 (GRCm39) V248A possibly damaging Het
Ubr5 A G 15: 38,041,817 (GRCm39) V204A probably benign Het
Ugp2 C T 11: 21,279,026 (GRCm39) V387I probably damaging Het
Unc45b G A 11: 82,804,035 (GRCm39) D71N probably damaging Het
Usp34 A T 11: 23,270,727 (GRCm39) Y37F possibly damaging Het
Zfp943 A T 17: 22,212,104 (GRCm39) I397F probably damaging Het
Other mutations in Rnf38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Rnf38 APN 4 44,137,645 (GRCm39) missense probably benign 0.09
IGL01992:Rnf38 APN 4 44,138,806 (GRCm39) missense probably damaging 1.00
IGL02682:Rnf38 APN 4 44,133,745 (GRCm39) missense probably damaging 1.00
IGL02951:Rnf38 APN 4 44,129,619 (GRCm39) nonsense probably null
IGL03032:Rnf38 APN 4 44,152,529 (GRCm39) missense probably damaging 0.99
IGL03326:Rnf38 APN 4 44,149,182 (GRCm39) missense probably benign 0.27
R0335:Rnf38 UTSW 4 44,152,507 (GRCm39) missense possibly damaging 0.59
R0336:Rnf38 UTSW 4 44,152,350 (GRCm39) splice site probably benign
R1473:Rnf38 UTSW 4 44,131,584 (GRCm39) missense probably benign 0.00
R1552:Rnf38 UTSW 4 44,142,468 (GRCm39) splice site probably null
R1670:Rnf38 UTSW 4 44,138,681 (GRCm39) missense probably damaging 0.96
R1708:Rnf38 UTSW 4 44,143,593 (GRCm39) missense probably damaging 1.00
R1943:Rnf38 UTSW 4 44,138,748 (GRCm39) missense probably damaging 0.99
R2063:Rnf38 UTSW 4 44,149,098 (GRCm39) missense probably damaging 0.99
R4348:Rnf38 UTSW 4 44,149,100 (GRCm39) missense possibly damaging 0.84
R4353:Rnf38 UTSW 4 44,149,100 (GRCm39) missense possibly damaging 0.84
R4618:Rnf38 UTSW 4 44,142,450 (GRCm39) missense probably damaging 1.00
R4967:Rnf38 UTSW 4 44,152,460 (GRCm39) missense probably damaging 1.00
R5230:Rnf38 UTSW 4 44,149,176 (GRCm39) missense probably benign 0.17
R6275:Rnf38 UTSW 4 44,152,408 (GRCm39) missense probably benign 0.11
R6855:Rnf38 UTSW 4 44,149,224 (GRCm39) missense probably damaging 1.00
R7200:Rnf38 UTSW 4 44,137,620 (GRCm39) missense probably benign 0.01
R7326:Rnf38 UTSW 4 44,158,989 (GRCm39) intron probably benign
R7351:Rnf38 UTSW 4 44,149,102 (GRCm39) missense probably benign 0.40
R8728:Rnf38 UTSW 4 44,131,615 (GRCm39) missense probably benign 0.17
R8969:Rnf38 UTSW 4 44,149,079 (GRCm39) missense possibly damaging 0.85
R9313:Rnf38 UTSW 4 44,143,584 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTTATGTGCCACAGACCTGG -3'
(R):5'- CCTGATGAATCATACTAGTTAGTAAGC -3'

Sequencing Primer
(F):5'- CAGACCTGGCTAAATTTCCATTAC -3'
(R):5'- AAGAAGGGAACGTCTGTC -3'
Posted On 2015-07-07