Incidental Mutation 'R8509:Trim12a'
ID 655758
Institutional Source Beutler Lab
Gene Symbol Trim12a
Ensembl Gene ENSMUSG00000066258
Gene Name tripartite motif-containing 12A
Synonyms Trim12, 2310043C01Rik
MMRRC Submission 067944-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R8509 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103949101-103964673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103955234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 163 (D163G)
Ref Sequence ENSEMBL: ENSMUSP00000102452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070943] [ENSMUST00000106837] [ENSMUST00000106839]
AlphaFold Q99PQ1
Predicted Effect probably benign
Transcript: ENSMUST00000070943
AA Change: D163G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000065008
Gene: ENSMUSG00000066258
AA Change: D163G

DomainStartEndE-ValueType
RING 15 58 7.8e-7 SMART
BBOX 91 132 9.01e-12 SMART
low complexity region 196 209 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106837
SMART Domains Protein: ENSMUSP00000102450
Gene: ENSMUSG00000066258

DomainStartEndE-ValueType
RING 15 58 7.8e-7 SMART
BBOX 91 132 9.01e-12 SMART
coiled coil region 140 200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106839
AA Change: D163G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102452
Gene: ENSMUSG00000066258
AA Change: D163G

DomainStartEndE-ValueType
RING 15 58 7.8e-7 SMART
BBOX 91 132 9.01e-12 SMART
low complexity region 196 209 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik T C 7: 115,703,669 (GRCm39) S181P possibly damaging Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
Ano3 T C 2: 110,496,180 (GRCm39) E858G possibly damaging Het
Asrgl1 T C 19: 9,091,590 (GRCm39) K244E probably damaging Het
BC048679 T A 7: 81,145,116 (GRCm39) T82S probably benign Het
Brip1 A T 11: 86,088,774 (GRCm39) C42* probably null Het
Cabcoco1 T C 10: 68,267,119 (GRCm39) E296G probably damaging Het
Ccnb1ip1 T C 14: 51,029,714 (GRCm39) N116S probably benign Het
Cep95 A G 11: 106,695,876 (GRCm39) E214G probably benign Het
Cyp11b1 A G 15: 74,711,202 (GRCm39) F159L possibly damaging Het
Dmxl2 C A 9: 54,335,341 (GRCm39) E660* probably null Het
Dnah14 C T 1: 181,642,220 (GRCm39) T112M Het
Fancd2 A G 6: 113,549,531 (GRCm39) T74A probably benign Het
Fat4 G T 3: 39,036,052 (GRCm39) V3235L probably benign Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,497,379 (GRCm39) probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gmcl1 A C 6: 86,699,589 (GRCm39) I146S probably damaging Het
Hbb-bs T A 7: 103,475,919 (GRCm39) K133* probably null Het
Hey1 G C 3: 8,729,836 (GRCm39) A207G probably benign Het
Hmcn1 T A 1: 150,449,302 (GRCm39) K5446* probably null Het
Hyal6 A T 6: 24,734,605 (GRCm39) E179D probably damaging Het
Inpp5b T A 4: 124,637,698 (GRCm39) probably null Het
Lrba A G 3: 86,255,483 (GRCm39) K942E probably benign Het
Lrrcc1 A G 3: 14,601,567 (GRCm39) N110S probably damaging Het
Mcoln3 A G 3: 145,830,647 (GRCm39) I126V probably benign Het
Ncoa7 T C 10: 30,572,048 (GRCm39) I242V probably benign Het
Ndufb4 A G 16: 37,469,506 (GRCm39) I66T probably benign Het
Npffr2 T C 5: 89,731,188 (GRCm39) S373P possibly damaging Het
Or5d20-ps1 T C 2: 87,931,866 (GRCm39) Y155C probably benign Het
Pi4ka A T 16: 17,172,008 (GRCm39) I579N Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ripk2 T C 4: 16,124,436 (GRCm39) E424G probably benign Het
Rnf19b T A 4: 128,967,369 (GRCm39) C304S probably damaging Het
Rtp1 T C 16: 23,248,064 (GRCm39) W46R probably damaging Het
Ryr2 A G 13: 11,592,664 (GRCm39) probably null Het
Sbf1 A T 15: 89,177,660 (GRCm39) D1674E probably damaging Het
Sgf29 T A 7: 126,270,834 (GRCm39) probably benign Het
Slc22a8 T C 19: 8,585,339 (GRCm39) probably null Het
Smg6 T C 11: 74,932,702 (GRCm39) S998P probably benign Het
Spata31h1 A G 10: 82,126,950 (GRCm39) V2020A probably benign Het
Srgap3 G A 6: 112,708,297 (GRCm39) Q801* probably null Het
Taf4b A G 18: 15,031,112 (GRCm39) D832G probably damaging Het
Trim46 A G 3: 89,153,020 (GRCm39) probably null Het
Trpm4 A G 7: 44,971,785 (GRCm39) V274A probably damaging Het
Unc80 A G 1: 66,680,788 (GRCm39) D2128G possibly damaging Het
Other mutations in Trim12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Trim12a APN 7 103,956,202 (GRCm39) missense probably benign 0.37
IGL01866:Trim12a APN 7 103,953,360 (GRCm39) splice site probably benign
IGL02522:Trim12a APN 7 103,950,038 (GRCm39) splice site probably null
R0900:Trim12a UTSW 7 103,953,469 (GRCm39) missense probably benign 0.00
R1673:Trim12a UTSW 7 103,955,264 (GRCm39) missense possibly damaging 0.93
R1856:Trim12a UTSW 7 103,950,064 (GRCm39) missense probably benign 0.20
R1928:Trim12a UTSW 7 103,956,331 (GRCm39) missense probably damaging 1.00
R2187:Trim12a UTSW 7 103,953,399 (GRCm39) missense probably damaging 0.98
R2391:Trim12a UTSW 7 103,956,138 (GRCm39) missense probably damaging 0.99
R3124:Trim12a UTSW 7 103,950,063 (GRCm39) missense probably benign 0.37
R3808:Trim12a UTSW 7 103,956,201 (GRCm39) missense probably benign 0.05
R4409:Trim12a UTSW 7 103,956,201 (GRCm39) missense probably benign 0.05
R4951:Trim12a UTSW 7 103,953,565 (GRCm39) missense possibly damaging 0.90
R5325:Trim12a UTSW 7 103,953,413 (GRCm39) missense probably damaging 1.00
R5694:Trim12a UTSW 7 103,956,450 (GRCm39) missense probably damaging 1.00
R6376:Trim12a UTSW 7 103,955,241 (GRCm39) missense probably benign 0.03
R7002:Trim12a UTSW 7 103,953,383 (GRCm39) missense possibly damaging 0.92
R7443:Trim12a UTSW 7 103,950,049 (GRCm39) missense probably damaging 0.99
R7980:Trim12a UTSW 7 103,953,335 (GRCm39) missense probably benign 0.36
R8284:Trim12a UTSW 7 103,955,282 (GRCm39) missense probably damaging 1.00
R8412:Trim12a UTSW 7 103,953,544 (GRCm39) missense possibly damaging 0.71
R8995:Trim12a UTSW 7 103,953,532 (GRCm39) missense probably benign 0.04
R9509:Trim12a UTSW 7 103,953,551 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GCATCTCCAACCAGGGTAAC -3'
(R):5'- TTCCCAGACCAAGTTGATTTTGTTC -3'

Sequencing Primer
(F):5'- GGTAACCAGTAGGGAGGAGTATC -3'
(R):5'- TCACAATCCCTTAAAAGAAAGGTAG -3'
Posted On 2020-10-20