Incidental Mutation 'R4353:Rnf38'
ID 327399
Institutional Source Beutler Lab
Gene Symbol Rnf38
Ensembl Gene ENSMUSG00000035696
Gene Name ring finger protein 38
Synonyms 2610202O07Rik, 1700065B19Rik, Oip1
MMRRC Submission 040866-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.559) question?
Stock # R4353 (G1)
Quality Score 225
Status Not 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: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Alpk2 C T 18: 65,424,523 (GRCm39) R1888H possibly damaging Het
Arhgap33 C A 7: 30,223,561 (GRCm39) V823L possibly damaging Het
Atp2b2 T C 6: 113,742,745 (GRCm39) I736V probably benign Het
Atp8a1 T C 5: 67,926,451 (GRCm39) T260A probably damaging Het
B4galnt3 T C 6: 120,192,437 (GRCm39) E433G possibly damaging Het
Bzw2 A T 12: 36,173,978 (GRCm39) F99I probably damaging Het
Cdh20 A G 1: 104,906,814 (GRCm39) D547G probably damaging Het
Col27a1 G T 4: 63,143,868 (GRCm39) A519S probably benign Het
Coq6 G A 12: 84,414,923 (GRCm39) G110D probably damaging Het
Cpb1 T C 3: 20,316,708 (GRCm39) T281A probably benign Het
Cttnbp2 T C 6: 18,514,703 (GRCm39) D11G probably benign Het
Cyp2c37 A G 19: 39,988,989 (GRCm39) Y316C possibly damaging Het
Dcdc2a T A 13: 25,240,474 (GRCm39) I74N probably damaging Het
Dhx9 A G 1: 153,347,535 (GRCm39) L391P probably damaging Het
Dsc2 G T 18: 20,183,125 (GRCm39) L98I probably damaging Het
Dthd1 T A 5: 63,000,210 (GRCm39) S511T probably benign Het
Dusp2 A G 2: 127,179,256 (GRCm39) T204A probably damaging Het
Elovl5 T C 9: 77,868,199 (GRCm39) V37A probably benign Het
Etv1 A G 12: 38,907,105 (GRCm39) E369G probably damaging Het
Gem G A 4: 11,705,939 (GRCm39) R9H probably damaging Het
Heg1 A G 16: 33,530,847 (GRCm39) T108A probably benign Het
Inava C T 1: 136,153,946 (GRCm39) V180I probably damaging Het
Iqgap2 C T 13: 95,807,904 (GRCm39) V788M probably damaging Het
Kyat3 T C 3: 142,437,054 (GRCm39) probably null Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Meis2 A G 2: 115,890,044 (GRCm39) M146T probably damaging Het
Nrp2 A G 1: 62,777,576 (GRCm39) D127G probably damaging Het
Nt5el T C 13: 105,255,253 (GRCm39) Y445H probably benign Het
Nup214 T C 2: 31,867,929 (GRCm39) probably null Het
Or2h1b T A 17: 37,462,228 (GRCm39) I58F probably damaging Het
Pabpc4 C T 4: 123,184,060 (GRCm39) T191I probably damaging Het
Pcnx2 T C 8: 126,489,590 (GRCm39) H1668R probably damaging Het
Poln C T 5: 34,286,796 (GRCm39) C124Y probably benign Het
Ppp2r2a T A 14: 67,266,386 (GRCm39) I92L probably damaging Het
Prb1b T G 6: 132,290,624 (GRCm39) Y25S unknown Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Rnf130 T C 11: 49,978,267 (GRCm39) V276A possibly damaging Het
Rnf31 AAC A 14: 55,838,555 (GRCm39) probably null Het
Scn7a T A 2: 66,506,780 (GRCm39) M1370L probably benign Het
Sema4b C A 7: 79,865,399 (GRCm39) L125I probably damaging Het
Slc12a7 C T 13: 73,938,853 (GRCm39) T210I possibly damaging Het
Sox8 A C 17: 25,786,309 (GRCm39) *465G probably null Het
Spg11 G T 2: 121,943,675 (GRCm39) T159K possibly damaging Het
Stk36 A G 1: 74,671,966 (GRCm39) R889G possibly damaging Het
Tmbim7 A G 5: 3,711,796 (GRCm39) S14G probably benign Het
Usp16 A G 16: 87,267,242 (GRCm39) N211D probably damaging Het
Vmn1r6 C T 6: 56,979,677 (GRCm39) A113V possibly damaging Het
Zc3h14 A G 12: 98,730,219 (GRCm39) N92D possibly damaging Het
Zfp638 T C 6: 83,961,041 (GRCm39) S1206P 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
R4352: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