Incidental Mutation 'R8756:Trim71'
ID 664174
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 068597-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8756 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 114340336-114393437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114342605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 559 (E559G)
Ref Sequence ENSEMBL: ENSMUSP00000107447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111816] [ENSMUST00000180393]
AlphaFold Q1PSW8
Predicted Effect possibly damaging
Transcript: ENSMUST00000111816
AA Change: E559G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107447
Gene: ENSMUSG00000079259
AA Change: E559G

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
Predicted Effect probably benign
Transcript: ENSMUST00000180393
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxr1 A T 6: 87,165,235 (GRCm39) S401T probably damaging Het
Armh1 T A 4: 117,094,861 (GRCm39) I60L probably benign Het
Atp8b5 T C 4: 43,342,439 (GRCm39) V370A probably damaging Het
Atraid T A 5: 31,211,385 (GRCm39) Y184N probably damaging Het
Cp G C 3: 20,059,736 (GRCm39) probably null Het
Crebbp A G 16: 3,903,767 (GRCm39) I1824T probably benign Het
Cyp2c65 A T 19: 39,049,552 (GRCm39) R27* probably null Het
Dtl T C 1: 191,271,371 (GRCm39) H725R probably benign Het
Dync1h1 G T 12: 110,583,261 (GRCm39) A453S probably benign Het
Fat3 T A 9: 16,287,885 (GRCm39) D546V probably damaging Het
Flt1 T C 5: 147,576,224 (GRCm39) T595A probably benign Het
Gtf2ird2 C T 5: 134,226,090 (GRCm39) P179S possibly damaging Het
Hoga1 A G 19: 42,048,716 (GRCm39) I145V probably benign Het
Igfn1 G T 1: 135,895,698 (GRCm39) Q1623K probably benign Het
Jsrp1 T A 10: 80,647,940 (GRCm39) probably null Het
Krt90 A C 15: 101,470,779 (GRCm39) probably null Het
Lrch3 T A 16: 32,808,810 (GRCm39) S514T probably benign Het
Mad2l1 T C 6: 66,512,569 (GRCm39) V20A probably damaging Het
Malrd1 T C 2: 15,757,706 (GRCm39) probably null Het
Matn2 A C 15: 34,423,876 (GRCm39) E578A possibly damaging Het
Myof A T 19: 37,928,400 (GRCm39) W1050R probably benign Het
Nemp1 T A 10: 127,528,845 (GRCm39) I183N probably benign Het
Nid1 A G 13: 13,683,386 (GRCm39) T1155A probably benign Het
Nsd1 T C 13: 55,461,506 (GRCm39) S2681P probably benign Het
Onecut3 C A 10: 80,349,750 (GRCm39) R415S probably damaging Het
Or2d2 T C 7: 106,728,019 (GRCm39) T194A probably benign Het
Or4s2 T A 2: 88,473,183 (GRCm39) V24E possibly damaging Het
Pclo T A 5: 14,764,398 (GRCm39) S1005R Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
R3hcc1l G A 19: 42,552,073 (GRCm39) V357M probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Serpinh1 A G 7: 98,996,359 (GRCm39) Y242H probably damaging Het
Slit2 G T 5: 48,459,829 (GRCm39) E1370* probably null Het
Sos2 C A 12: 69,695,310 (GRCm39) L142F probably damaging Het
Spag4 T C 2: 155,908,493 (GRCm39) L141P possibly damaging Het
Sun1 T C 5: 139,222,444 (GRCm39) L570P probably damaging Het
Tars2 A G 3: 95,648,672 (GRCm39) V662A probably benign Het
Tmem245 C A 4: 56,899,025 (GRCm39) probably null Het
Tpp2 T A 1: 43,999,295 (GRCm39) Y356* probably null Het
Trafd1 T C 5: 121,513,878 (GRCm39) E303G probably damaging Het
Ush2a T A 1: 188,644,141 (GRCm39) V4501E possibly damaging Het
Vegfa T C 17: 46,342,465 (GRCm39) T118A probably damaging Het
Vmn2r124 A T 17: 18,294,094 (GRCm39) H727L probably benign Het
Zdhhc2 T A 8: 40,920,551 (GRCm39) V270E probably damaging Het
Zfp112 T C 7: 23,824,997 (GRCm39) S326P probably benign Het
Zfp37 T C 4: 62,110,371 (GRCm39) D272G possibly damaging 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
R1858:Trim71 UTSW 9 114,392,016 (GRCm39) missense possibly damaging 0.86
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
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'- ACAGGGCTTAAACACCTGGATTC -3'
(R):5'- GCCTCTTTCACTGTCATGGG -3'

Sequencing Primer
(F):5'- AAACACCTGGATTCTGTTATTGC -3'
(R):5'- TCACTGTCATGGGCTACGAC -3'
Posted On 2021-03-08