Incidental Mutation 'R1858:Trim71'
ID 269773
Institutional Source Beutler Lab
Gene Symbol Trim71
Ensembl Gene ENSMUSG00000079259
Gene Name tripartite motif-containing 71
Synonyms lin-41, 2610206G21Rik, mLin41, mlin-41, 636931, LOC382112, Lin41
MMRRC Submission 039882-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1858 (G1)
Quality Score 30.1
Status Validated
Chromosome 9
Chromosomal Location 114340336-114393437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114392016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 57 (V57A)
Ref Sequence ENSEMBL: ENSMUSP00000107447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111816]
AlphaFold Q1PSW8
Predicted Effect possibly damaging
Transcript: ENSMUST00000111816
AA Change: V57A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107447
Gene: ENSMUSG00000079259
AA Change: V57A

DomainStartEndE-ValueType
RING 12 93 7.16e-6 SMART
low complexity region 129 176 N/A INTRINSIC
BBOX 181 230 1.49e-1 SMART
BBOX 260 301 4.54e-8 SMART
Blast:BBC 325 433 1e-9 BLAST
IG_FLMN 470 570 5.04e-24 SMART
Pfam:NHL 593 620 2.9e-12 PFAM
Pfam:NHL 640 667 1.8e-9 PFAM
Pfam:NHL 687 714 4.4e-12 PFAM
Pfam:NHL 734 761 1.4e-10 PFAM
Pfam:NHL 781 808 4.4e-12 PFAM
Pfam:NHL 828 855 8.3e-10 PFAM
Meta Mutation Damage Score 0.0950 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.8%
  • 20x: 91.0%
Validation Efficiency 97% (112/116)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous gene trap mutations of this gene result in failure of cranial neural tube closure and embryonic lethality. Homozygotes for a gene trap allele exhibit exencephaly, abnormal nasal process and facial prominence, reduced brain size, and embryonic or fetal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C A 1: 12,045,177 (GRCm39) A443E unknown Het
Acacb A T 5: 114,334,770 (GRCm39) Y613F probably benign Het
Adam23 A C 1: 63,596,615 (GRCm39) I566L probably benign Het
Adar G T 3: 89,646,589 (GRCm39) R338L probably benign Het
Akap14 C T X: 36,420,779 (GRCm39) A476T probably damaging Het
Amotl1 T A 9: 14,486,697 (GRCm39) Q399L probably benign Het
Ankrd16 T G 2: 11,783,407 (GRCm39) L3R probably benign Het
Arfgap1 G C 2: 180,615,881 (GRCm39) G187R probably damaging Het
Arhgap19 A T 19: 41,767,592 (GRCm39) V399D probably benign Het
Arl4d A G 11: 101,557,578 (GRCm39) T35A probably damaging Het
Atr T A 9: 95,747,150 (GRCm39) I144N probably damaging Het
Bptf A G 11: 106,964,127 (GRCm39) M1574T probably benign Het
Cacna1h T A 17: 25,599,781 (GRCm39) D1684V probably damaging Het
Celsr1 C A 15: 85,916,960 (GRCm39) V338F probably damaging Het
Cep164 T C 9: 45,734,938 (GRCm39) probably benign Het
Clock C A 5: 76,388,756 (GRCm39) G390C possibly damaging Het
Col6a6 A G 9: 105,658,301 (GRCm39) F637S probably damaging Het
Crebrf T A 17: 26,961,937 (GRCm39) Y345N probably benign Het
Cstdc3 A T 16: 36,128,449 (GRCm39) I15F probably damaging Het
Cul1 A G 6: 47,502,458 (GRCm39) probably null Het
Cyb5r4 C T 9: 86,923,332 (GRCm39) S185L probably benign Het
Cyp3a57 T C 5: 145,318,059 (GRCm39) Y347H probably damaging Het
Dgkq G T 5: 108,801,597 (GRCm39) T487K probably benign Het
Dmkn T C 7: 30,463,990 (GRCm39) V143A probably benign Het
Dmp1 A T 5: 104,355,496 (GRCm39) E32V possibly damaging Het
Dsc3 T C 18: 20,098,773 (GRCm39) D802G probably damaging Het
Dse T C 10: 34,029,225 (GRCm39) T622A probably benign Het
Duxf4 A G 10: 58,071,602 (GRCm39) V204A probably benign Het
Dyrk1b A T 7: 27,882,071 (GRCm39) probably null Het
Ehd2 T C 7: 15,686,113 (GRCm39) T320A probably benign Het
Eif3a A C 19: 60,770,635 (GRCm39) L71V probably damaging Het
Eif4e1b A G 13: 54,935,091 (GRCm39) probably null Het
Fam131b A G 6: 42,295,914 (GRCm39) F161L probably damaging Het
Fam171b A T 2: 83,683,725 (GRCm39) M81L probably benign Het
Gal3st4 T C 5: 138,269,050 (GRCm39) probably null Het
Gdf11 A T 10: 128,722,315 (GRCm39) V180E probably damaging Het
Grin3a T A 4: 49,792,437 (GRCm39) Y432F probably benign Het
Hif1a C A 12: 73,990,929 (GRCm39) H708N probably benign Het
Hmcn2 G T 2: 31,305,295 (GRCm39) probably null Het
Hs3st6 T A 17: 24,976,973 (GRCm39) M151K possibly damaging Het
Hyal2 T A 9: 107,449,537 (GRCm39) L431Q probably benign Het
Hyal6 A T 6: 24,740,857 (GRCm39) T337S probably benign Het
Igsf5 A T 16: 96,187,829 (GRCm39) probably null Het
Kif13a G A 13: 47,018,314 (GRCm39) probably benign Het
Krtap19-3 G A 16: 88,674,878 (GRCm39) probably benign Het
Lgalsl T C 11: 20,779,420 (GRCm39) D75G probably benign Het
Lrrc56 A G 7: 140,787,421 (GRCm39) M353V probably benign Het
Ltbp2 T A 12: 84,877,555 (GRCm39) K337* probably null Het
Mdn1 C T 4: 32,730,881 (GRCm39) H2917Y probably benign Het
Medag A G 5: 149,353,259 (GRCm39) I151M probably damaging Het
Meiob T C 17: 25,042,544 (GRCm39) V124A probably damaging Het
Mmp3 A G 9: 7,451,799 (GRCm39) H379R probably benign Het
Mpg A G 11: 32,181,957 (GRCm39) probably null Het
Ncoa6 G T 2: 155,263,559 (GRCm39) Q292K probably benign Het
Ndufaf6 G T 4: 11,053,474 (GRCm39) H277Q probably benign Het
Nlrp4c A G 7: 6,087,655 (GRCm39) I763V probably benign Het
Nlrp5 A T 7: 23,117,586 (GRCm39) I437F probably damaging Het
Noc2l G A 4: 156,329,727 (GRCm39) R435Q probably damaging Het
Nova2 T C 7: 18,692,326 (GRCm39) I485T probably damaging Het
Nrxn2 G A 19: 6,538,825 (GRCm39) V794I probably benign Het
Nup210l A G 3: 90,061,806 (GRCm39) T662A probably damaging Het
Or2ad1 A T 13: 21,326,564 (GRCm39) I221N probably damaging Het
Or2b28 A G 13: 21,531,346 (GRCm39) M83V possibly damaging Het
Or2p2 A T 13: 21,256,641 (GRCm39) F277I probably damaging Het
Or51aa2 G A 7: 103,187,859 (GRCm39) T194I probably damaging Het
Or51e2 A C 7: 102,391,571 (GRCm39) I213S probably damaging Het
Or51l14 G A 7: 103,101,332 (GRCm39) V263I probably benign Het
Or9g8 T C 2: 85,607,582 (GRCm39) L218P probably damaging Het
Pelp1 G A 11: 70,285,568 (GRCm39) P767S probably damaging Het
Pfdn1 C A 18: 36,584,153 (GRCm39) M60I probably benign Het
Plaat1 G A 16: 29,036,470 (GRCm39) G36D probably damaging Het
Plcxd3 T A 15: 4,546,093 (GRCm39) probably benign Het
Plekhg1 C A 10: 3,895,917 (GRCm39) D436E possibly damaging Het
Ppfibp1 G A 6: 146,892,090 (GRCm39) V117I probably benign Het
Prss44 A G 9: 110,643,177 (GRCm39) K24R probably benign Het
Ptger1 G T 8: 84,395,107 (GRCm39) G195W probably benign Het
Ptgs1 A C 2: 36,132,782 (GRCm39) D260A probably benign Het
Ptprd T A 4: 75,865,384 (GRCm39) T1198S probably damaging Het
Qsox2 A G 2: 26,104,074 (GRCm39) S319P probably damaging Het
Rab35 A G 5: 115,778,147 (GRCm39) I38V probably damaging Het
Rapgef4 A G 2: 71,861,408 (GRCm39) I33V possibly damaging Het
Rbbp8nl C T 2: 179,924,006 (GRCm39) probably benign Het
Riok1 A T 13: 38,242,694 (GRCm39) K473* probably null Het
Rtca C T 3: 116,287,764 (GRCm39) G288S probably benign Het
Sag A T 1: 87,742,570 (GRCm39) D114V probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sec61g A G 11: 16,456,371 (GRCm39) probably null Het
Sf3a3 A T 4: 124,623,288 (GRCm39) I440F probably damaging Het
Sgta T C 10: 80,884,695 (GRCm39) K205E possibly damaging Het
Slc36a4 A G 9: 15,632,006 (GRCm39) T61A probably damaging Het
Slc5a4a T C 10: 76,002,569 (GRCm39) S242P probably benign Het
Srgap3 A T 6: 112,748,479 (GRCm39) L391Q probably damaging Het
Stard13 T C 5: 151,018,903 (GRCm39) Y60C probably damaging Het
Styxl2 T C 1: 165,928,415 (GRCm39) Y399C possibly damaging Het
Syt12 G T 19: 4,497,825 (GRCm39) H386N probably damaging Het
Thyn1 T A 9: 26,915,070 (GRCm39) M74K probably benign Het
Tmem130 C A 5: 144,689,093 (GRCm39) probably null Het
Twf1 T C 15: 94,483,428 (GRCm39) probably benign Het
Tyro3 T A 2: 119,632,176 (GRCm39) I81N possibly damaging Het
Unc13a A T 8: 72,105,043 (GRCm39) C740S probably damaging Het
Vmn1r15 A T 6: 57,235,616 (GRCm39) K161N probably benign Het
Vmn1r16 A T 6: 57,299,884 (GRCm39) I246N probably damaging Het
Vmn1r42 A G 6: 89,821,597 (GRCm39) I324T probably benign Het
Vmn2r35 T C 7: 7,819,805 (GRCm39) Y155C possibly damaging Het
Wif1 T A 10: 120,919,788 (GRCm39) probably null Het
Wscd2 G A 5: 113,689,231 (GRCm39) R79Q possibly damaging Het
Zan G T 5: 137,404,139 (GRCm39) probably benign Het
Zfp9 G T 6: 118,442,021 (GRCm39) H214N probably benign Het
Zfp985 A T 4: 147,667,315 (GRCm39) Y61F probably benign Het
Zscan30 A G 18: 24,104,524 (GRCm39) noncoding transcript Het
Other mutations in Trim71
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Trim71 APN 9 114,354,083 (GRCm39) missense probably benign 0.19
IGL02060:Trim71 APN 9 114,342,321 (GRCm39) missense possibly damaging 0.55
R2161:Trim71 UTSW 9 114,341,840 (GRCm39) missense probably damaging 1.00
R2409:Trim71 UTSW 9 114,342,781 (GRCm39) missense possibly damaging 0.89
R3034:Trim71 UTSW 9 114,341,912 (GRCm39) missense probably damaging 1.00
R3843:Trim71 UTSW 9 114,344,914 (GRCm39) missense probably benign 0.00
R6786:Trim71 UTSW 9 114,341,772 (GRCm39) missense probably benign 0.05
R6846:Trim71 UTSW 9 114,354,115 (GRCm39) missense probably damaging 1.00
R7524:Trim71 UTSW 9 114,342,230 (GRCm39) missense probably benign 0.35
R7559:Trim71 UTSW 9 114,342,110 (GRCm39) missense probably damaging 1.00
R7590:Trim71 UTSW 9 114,391,893 (GRCm39) missense probably benign 0.02
R7922:Trim71 UTSW 9 114,342,153 (GRCm39) missense probably damaging 1.00
R8156:Trim71 UTSW 9 114,342,192 (GRCm39) missense probably benign 0.14
R8371:Trim71 UTSW 9 114,344,857 (GRCm39) missense probably benign 0.22
R8756:Trim71 UTSW 9 114,342,605 (GRCm39) missense possibly damaging 0.62
R8982:Trim71 UTSW 9 114,342,804 (GRCm39) missense possibly damaging 0.63
R9571:Trim71 UTSW 9 114,342,359 (GRCm39) missense probably damaging 1.00
X0065:Trim71 UTSW 9 114,342,183 (GRCm39) missense probably benign 0.07
Z1177:Trim71 UTSW 9 114,342,549 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AGTTGTCGCACAGGTGTTC -3'
(R):5'- TGCAAATGGCTTCGTTCCCG -3'

Sequencing Primer
(F):5'- TGTTCCTGGCAGTCGAGGC -3'
(R):5'- GGAGACCGACTTCCAGATCTG -3'
Posted On 2015-02-27