Incidental Mutation 'R9122:Trim23'
ID 692836
Institutional Source Beutler Lab
Gene Symbol Trim23
Ensembl Gene ENSMUSG00000021712
Gene Name tripartite motif-containing 23
Synonyms Arfd1, 6330516O20Rik
MMRRC Submission 068924-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R9122 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 104315305-104339880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104317681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 61 (T61A)
Ref Sequence ENSEMBL: ENSMUSP00000022225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022224] [ENSMUST00000022225] [ENSMUST00000069174] [ENSMUST00000069187] [ENSMUST00000141557] [ENSMUST00000144060] [ENSMUST00000179891]
AlphaFold Q8BGX0
Predicted Effect probably benign
Transcript: ENSMUST00000022224
SMART Domains Protein: ENSMUSP00000022224
Gene: ENSMUSG00000021711

DomainStartEndE-ValueType
Pfam:DUF974 65 298 1.3e-87 PFAM
low complexity region 366 388 N/A INTRINSIC
low complexity region 405 418 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000022225
AA Change: T61A

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000022225
Gene: ENSMUSG00000021712
AA Change: T61A

DomainStartEndE-ValueType
RING 31 75 3.07e-5 SMART
BBOX 122 168 3.07e-1 SMART
BBOX 173 219 1.32e-4 SMART
BBC 226 370 2.89e-41 SMART
ARF 387 569 1.15e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069174
AA Change: T41A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000069371
Gene: ENSMUSG00000021712
AA Change: T41A

DomainStartEndE-ValueType
RING 11 55 3.07e-5 SMART
BBOX 102 148 3.07e-1 SMART
BBOX 153 199 1.32e-4 SMART
BBC 206 350 2.89e-41 SMART
ARF 367 549 1.15e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069187
AA Change: T61A

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000070767
Gene: ENSMUSG00000021712
AA Change: T61A

DomainStartEndE-ValueType
RING 31 75 3.07e-5 SMART
BBOX 122 168 3.07e-1 SMART
BBOX 173 219 5.95e-3 SMART
BBC 182 309 8.07e-22 SMART
ARF 326 508 1.15e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141557
SMART Domains Protein: ENSMUSP00000118316
Gene: ENSMUSG00000021711

DomainStartEndE-ValueType
Pfam:DUF974 65 299 1.6e-88 PFAM
low complexity region 365 387 N/A INTRINSIC
low complexity region 404 417 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144060
SMART Domains Protein: ENSMUSP00000114406
Gene: ENSMUSG00000021711

DomainStartEndE-ValueType
Pfam:DUF974 65 293 4.4e-87 PFAM
low complexity region 360 382 N/A INTRINSIC
low complexity region 399 412 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179891
SMART Domains Protein: ENSMUSP00000136986
Gene: ENSMUSG00000021711

DomainStartEndE-ValueType
Pfam:DUF974 65 299 1e-87 PFAM
low complexity region 366 388 N/A INTRINSIC
low complexity region 405 418 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (42/42)
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 a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit mild myopathy with sarcotubular myopathy, decreased fertility, and decreased axon diameter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C G 17: 36,203,963 (GRCm39) S185T probably benign Het
Armh4 A T 14: 50,011,459 (GRCm39) Y83N possibly damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cacna1d C A 14: 29,845,402 (GRCm39) R611L probably damaging Het
Cacna1d G A 14: 29,852,125 (GRCm39) T498I probably benign Het
Cc2d2a T A 5: 43,831,081 (GRCm39) D57E probably null Het
Cd180 C A 13: 102,841,517 (GRCm39) L188M probably damaging Het
Chd7 A G 4: 8,840,510 (GRCm39) K1426R possibly damaging Het
Cntnap5c A T 17: 58,411,601 (GRCm39) D495V probably benign Het
Col11a1 T A 3: 113,907,249 (GRCm39) M630K unknown Het
Cxxc1 T G 18: 74,350,246 (GRCm39) D4E probably benign Het
Ddx31 G A 2: 28,748,753 (GRCm39) R227Q probably damaging Het
Ddx60 A G 8: 62,442,898 (GRCm39) M1109V probably benign Het
Dennd5b T C 6: 148,908,240 (GRCm39) T1018A Het
Efcab3 A T 11: 104,856,605 (GRCm39) D3840V unknown Het
Ggta1 A T 2: 35,303,336 (GRCm39) probably null Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gpr37l1 C T 1: 135,095,209 (GRCm39) V12I probably benign Het
Grin2a A T 16: 9,397,186 (GRCm39) V967E possibly damaging Het
H2ac25 T C 11: 58,845,667 (GRCm39) L35P probably damaging Het
Helz A G 11: 107,556,830 (GRCm39) T1283A probably benign Het
Ints1 A G 5: 139,745,930 (GRCm39) M1315T possibly damaging Het
Klri1 T A 6: 129,693,995 (GRCm39) R31* probably null Het
Nadk T A 4: 155,671,275 (GRCm39) N226K probably benign Het
Ncapg T C 5: 45,846,015 (GRCm39) F624S possibly damaging Het
Nxn A T 11: 76,169,317 (GRCm39) I154N probably damaging Het
Pclo T C 5: 14,729,998 (GRCm39) V2952A unknown Het
Poc1a T C 9: 106,162,242 (GRCm39) V89A probably benign Het
Pou2f2 T A 7: 24,792,302 (GRCm39) T518S probably benign Het
Pou5f1 C T 17: 35,819,953 (GRCm39) T7I probably benign Het
Prss44 T C 9: 110,646,362 (GRCm39) V363A probably damaging Het
Rhobtb1 T C 10: 69,106,653 (GRCm39) V468A probably damaging Het
Slc24a1 C A 9: 64,834,478 (GRCm39) M981I probably benign Het
Tacc1 G T 8: 25,659,255 (GRCm39) S570R probably damaging Het
Tle3 C T 9: 61,314,755 (GRCm39) probably benign Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Trgv1 G A 13: 19,524,330 (GRCm39) G18E probably damaging Het
Tshr C A 12: 91,478,737 (GRCm39) H195N probably benign Het
Ttn A G 2: 76,712,151 (GRCm39) S8202P unknown Het
Ufsp2 A T 8: 46,438,441 (GRCm39) Y248F probably benign Het
Vmn2r12 T A 5: 109,240,910 (GRCm39) I68L probably benign Het
Wdfy3 C A 5: 102,091,831 (GRCm39) V503L probably damaging Het
Zfp788 A T 7: 41,299,919 (GRCm39) K852* probably null Het
Zfp980 A C 4: 145,428,834 (GRCm39) H521P probably damaging Het
Other mutations in Trim23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02092:Trim23 APN 13 104,324,120 (GRCm39) missense probably benign 0.30
R0462:Trim23 UTSW 13 104,334,541 (GRCm39) missense probably damaging 1.00
R0638:Trim23 UTSW 13 104,337,817 (GRCm39) missense probably benign 0.00
R0980:Trim23 UTSW 13 104,324,635 (GRCm39) missense probably damaging 1.00
R1087:Trim23 UTSW 13 104,324,618 (GRCm39) missense possibly damaging 0.66
R1764:Trim23 UTSW 13 104,335,126 (GRCm39) missense probably damaging 1.00
R2441:Trim23 UTSW 13 104,328,583 (GRCm39) missense probably damaging 1.00
R4006:Trim23 UTSW 13 104,324,131 (GRCm39) missense probably benign 0.00
R4010:Trim23 UTSW 13 104,317,526 (GRCm39) unclassified probably benign
R5162:Trim23 UTSW 13 104,317,682 (GRCm39) missense probably damaging 0.98
R5383:Trim23 UTSW 13 104,335,205 (GRCm39) missense probably damaging 1.00
R5389:Trim23 UTSW 13 104,328,541 (GRCm39) missense probably damaging 0.96
R5520:Trim23 UTSW 13 104,324,035 (GRCm39) missense probably damaging 1.00
R5539:Trim23 UTSW 13 104,334,541 (GRCm39) missense probably damaging 1.00
R5557:Trim23 UTSW 13 104,324,017 (GRCm39) missense probably damaging 1.00
R7079:Trim23 UTSW 13 104,323,801 (GRCm39) splice site probably null
R7249:Trim23 UTSW 13 104,324,663 (GRCm39) missense probably damaging 0.99
R7290:Trim23 UTSW 13 104,323,941 (GRCm39) missense probably damaging 1.00
R7608:Trim23 UTSW 13 104,328,541 (GRCm39) missense probably benign 0.36
R8495:Trim23 UTSW 13 104,337,817 (GRCm39) missense probably benign 0.00
R8851:Trim23 UTSW 13 104,334,573 (GRCm39) missense possibly damaging 0.63
R8976:Trim23 UTSW 13 104,328,545 (GRCm39) missense probably damaging 0.96
Z1187:Trim23 UTSW 13 104,315,395 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CATGCCTGGCTTGGTCAATTG -3'
(R):5'- TAAGAGTGGACCTCATCTACCTTAG -3'

Sequencing Primer
(F):5'- CTGGCTTGGTCAATTGTTTTTAAATC -3'
(R):5'- GAGACTCAGATTGTGAAAGCTCTTTG -3'
Posted On 2021-12-30