Incidental Mutation 'R8156:Trim71'
ID 633323
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 067582-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8156 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 114340336-114393437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114342192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 697 (S697P)
Ref Sequence ENSEMBL: ENSMUSP00000107447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111816] [ENSMUST00000180393]
AlphaFold Q1PSW8
Predicted Effect probably benign
Transcript: ENSMUST00000111816
AA Change: S697P

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107447
Gene: ENSMUSG00000079259
AA Change: S697P

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency 95% (40/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alyref T C 11: 120,489,074 (GRCm39) R31G probably benign Het
Arfgef2 GTGTGCAGAAACT GT 2: 166,676,383 (GRCm39) 92 probably null Het
Arhgap31 G T 16: 38,445,991 (GRCm39) A118E probably damaging Het
Asb5 T A 8: 55,003,541 (GRCm39) I21K probably damaging Het
Asxl2 A G 12: 3,546,760 (GRCm39) I515V probably benign Het
Bend7 C T 2: 4,757,665 (GRCm39) P236S probably benign Het
C4bp T C 1: 130,566,824 (GRCm39) T351A probably benign Het
Cd1d2 T A 3: 86,894,569 (GRCm39) probably null Het
Chd1 T A 17: 15,981,666 (GRCm39) D1368E probably benign Het
Chrnb3 A G 8: 27,883,682 (GRCm39) I140V probably benign Het
Cip2a A G 16: 48,817,825 (GRCm39) D65G probably damaging Het
Col6a2 T C 10: 76,432,625 (GRCm39) T843A possibly damaging Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Dop1a A G 9: 86,376,510 (GRCm39) D248G probably damaging Het
Dtna T A 18: 23,723,388 (GRCm39) C197* probably null Het
Flg2 T C 3: 93,127,390 (GRCm39) S2101P unknown Het
Foxg1 A G 12: 49,431,429 (GRCm39) H54R unknown Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gpr35 A G 1: 92,910,437 (GRCm39) T50A probably damaging Het
Gsta3 A T 1: 21,330,322 (GRCm39) Y108F probably benign Het
Hdac4 G T 1: 91,886,138 (GRCm39) A811E probably damaging Het
Hephl1 A T 9: 14,972,210 (GRCm39) V910E possibly damaging Het
Kcnb2 A T 1: 15,780,280 (GRCm39) Y384F probably damaging Het
Kmt2a T C 9: 44,733,686 (GRCm39) I2210M unknown Het
Lamb2 C T 9: 108,357,845 (GRCm39) R123W probably damaging Het
Lrriq1 A G 10: 102,992,196 (GRCm39) probably null Het
Lsm4 G A 8: 71,131,018 (GRCm39) G112S probably damaging Het
Myt1 T C 2: 181,464,554 (GRCm39) probably null Het
Ndor1 T C 2: 25,138,746 (GRCm39) R396G probably benign Het
Or10ag56 A C 2: 87,139,318 (GRCm39) I82L probably damaging Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Prdm2 A G 4: 142,861,338 (GRCm39) S651P probably benign Het
Prkaa2 T C 4: 104,909,172 (GRCm39) M91V probably benign Het
Pskh1 G A 8: 106,640,226 (GRCm39) R302H probably benign Het
Rab11fip4 A G 11: 79,577,415 (GRCm39) T390A probably benign Het
Snx10 T C 6: 51,538,999 (GRCm39) probably benign Het
Taar5 T C 10: 23,847,393 (GRCm39) C264R probably damaging Het
Tcf20 A G 15: 82,737,138 (GRCm39) C1438R probably benign Het
Tfap2d A G 1: 19,173,486 (GRCm39) T3A probably benign Het
Toporsl A G 4: 52,609,975 (GRCm39) probably benign Het
Ufl1 T C 4: 25,269,057 (GRCm39) D258G probably damaging Het
Vmn1r28 T C 6: 58,242,183 (GRCm39) Y9H probably damaging Het
Zfp995 T A 17: 22,099,115 (GRCm39) H373L probably 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
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'- AATAACCAGAAGCCGGTGGTTG -3'
(R):5'- ACAAGTTTGGTACCCTTGGGTC -3'

Sequencing Primer
(F):5'- TGTTGAAGTCGGTGACTACC -3'
(R):5'- CTCGTCCTGGGCAGTTTGAC -3'
Posted On 2020-06-30