Incidental Mutation 'R0049:Trim30a'
ID 40889
Institutional Source Beutler Lab
Gene Symbol Trim30a
Ensembl Gene ENSMUSG00000030921
Gene Name tripartite motif-containing 30A
Synonyms Rpt-1, Rpt1, Trim30
MMRRC Submission 038343-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R0049 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104058232-104114400 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to T at 104078559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076922]
AlphaFold P15533
PDB Structure Solution structure of the Zinc finger, C3HC4 type (RING finger) domain Tripartite motif protein 30 [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000076922
SMART Domains Protein: ENSMUSP00000076189
Gene: ENSMUSG00000030921

DomainStartEndE-ValueType
RING 15 58 2.88e-10 SMART
BBOX 91 132 3.52e-14 SMART
coiled coil region 173 241 N/A INTRINSIC
low complexity region 255 265 N/A INTRINSIC
Pfam:SPRY 349 493 1.6e-8 PFAM
Meta Mutation Damage Score 0.8681 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 99% (114/115)
MGI Phenotype PHENOTYPE: Homozygous null mice show increased CD4/CD8 ratio with age, an abnormal CD4+ T cell response upon TCR activation, and reduced effector function of CD4+ T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,615,267 (GRCm39) H9L possibly damaging Het
Aars1 T A 8: 111,779,083 (GRCm39) I739K possibly damaging Het
Abcb1b T A 5: 8,875,661 (GRCm39) H611Q probably damaging Het
Acod1 T A 14: 103,292,643 (GRCm39) I389K possibly damaging Het
Adgre1 T A 17: 57,709,841 (GRCm39) L166* probably null Het
Akap1 C A 11: 88,730,450 (GRCm39) probably null Het
Akna T A 4: 63,312,872 (GRCm39) Q417L probably damaging Het
Anxa7 T C 14: 20,512,678 (GRCm39) D285G probably damaging Het
Arhgap1 T C 2: 91,500,514 (GRCm39) Y308H probably damaging Het
Arhgef10 A C 8: 15,004,446 (GRCm39) R360S probably damaging Het
Arhgef11 T A 3: 87,636,500 (GRCm39) probably null Het
Arid3a A G 10: 79,766,899 (GRCm39) T58A possibly damaging Het
Atosb A T 4: 43,036,441 (GRCm39) S97T probably benign Het
Atp6v0a4 G A 6: 38,059,016 (GRCm39) R256C probably damaging Het
Camsap3 C A 8: 3,648,772 (GRCm39) S163R probably benign Het
Ccdc110 A T 8: 46,395,663 (GRCm39) E518V probably damaging Het
Ccdc180 G A 4: 45,930,119 (GRCm39) probably null Het
Ccnt1 T C 15: 98,462,960 (GRCm39) M71V probably benign Het
Celsr2 T A 3: 108,304,570 (GRCm39) Y2263F probably benign Het
Cfap36 A T 11: 29,196,514 (GRCm39) probably null Het
Cfap69 T C 5: 5,663,734 (GRCm39) T498A probably benign Het
Chadl T C 15: 81,578,213 (GRCm39) D6G probably benign Het
Clstn3 T A 6: 124,436,812 (GRCm39) I132F possibly damaging Het
Cnot4 A G 6: 35,028,212 (GRCm39) V468A probably benign Het
Crmp1 T G 5: 37,422,617 (GRCm39) D141E possibly damaging Het
Crtc1 A G 8: 70,844,509 (GRCm39) probably null Het
Cryz C A 3: 154,317,189 (GRCm39) A136D probably damaging Het
Dph6 A G 2: 114,353,525 (GRCm39) V221A probably benign Het
Dst A T 1: 34,314,862 (GRCm39) N4267Y probably damaging Het
Duox2 T A 2: 122,127,167 (GRCm39) D170V possibly damaging Het
Ecm2 A T 13: 49,677,922 (GRCm39) K403* probably null Het
Eif3d T C 15: 77,843,924 (GRCm39) N474S probably benign Het
Elf1 T C 14: 79,802,965 (GRCm39) L106P probably damaging Het
Exoc4 G C 6: 33,273,857 (GRCm39) probably null Het
F12 T C 13: 55,574,130 (GRCm39) D34G probably benign Het
Fam228b A T 12: 4,798,117 (GRCm39) F200Y probably damaging Het
Fgl2 T A 5: 21,580,661 (GRCm39) D334E possibly damaging Het
Fras1 T A 5: 96,924,481 (GRCm39) F3641I probably benign Het
Gabrb2 T G 11: 42,484,674 (GRCm39) Y244D probably damaging Het
Gcc1 A T 6: 28,421,268 (GRCm39) D16E probably benign Het
Gga3 C A 11: 115,477,915 (GRCm39) G558* probably null Het
Glt1d1 T C 5: 127,740,391 (GRCm39) probably benign Het
Gorasp2 T C 2: 70,521,067 (GRCm39) S346P possibly damaging Het
Hcn4 T C 9: 58,767,582 (GRCm39) S1048P probably damaging Het
Henmt1 T A 3: 108,861,105 (GRCm39) probably benign Het
Htt A C 5: 35,066,006 (GRCm39) K3060N probably damaging Het
Ibsp C T 5: 104,450,024 (GRCm39) L8F probably damaging Het
Kif27 A T 13: 58,451,378 (GRCm39) D983E probably damaging Het
Kif3a T A 11: 53,481,560 (GRCm39) probably benign Het
Kif3c A C 12: 3,417,090 (GRCm39) K370N possibly damaging Het
Loxhd1 T C 18: 77,468,256 (GRCm39) probably benign Het
Maz A T 7: 126,623,758 (GRCm39) D74E probably damaging Het
Med21 T C 6: 146,551,732 (GRCm39) S128P probably damaging Het
Mms19 A C 19: 41,943,607 (GRCm39) M374R probably damaging Het
Mprip T C 11: 59,657,571 (GRCm39) V801A probably damaging Het
Mrpl3 T C 9: 104,932,872 (GRCm39) V111A probably benign Het
Mtfr2 T A 10: 20,224,158 (GRCm39) Y31N probably damaging Het
Myh3 C T 11: 66,990,498 (GRCm39) R1677C probably damaging Het
Mynn T A 3: 30,661,230 (GRCm39) *61K probably null Het
Neb A C 2: 52,060,479 (GRCm39) M2286R possibly damaging Het
Ngf A T 3: 102,427,661 (GRCm39) R137* probably null Het
Nr1i3 T A 1: 171,041,982 (GRCm39) V22E probably damaging Het
Nxpe5 T C 5: 138,249,566 (GRCm39) V452A probably damaging Het
Oas1e C A 5: 120,933,395 (GRCm39) A57S probably benign Het
Or11g27 A T 14: 50,771,151 (GRCm39) K94M probably damaging Het
Or14j10 T A 17: 37,935,024 (GRCm39) R167S probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Pax3 A G 1: 78,080,141 (GRCm39) L415P probably damaging Het
Pcnt G T 10: 76,205,655 (GRCm39) probably benign Het
Peg3 G T 7: 6,714,672 (GRCm39) D183E possibly damaging Het
Pglyrp1 G T 7: 18,623,313 (GRCm39) G120V probably damaging Het
Pnp2 T A 14: 51,196,990 (GRCm39) Y25* probably null Het
Pomt1 T A 2: 32,142,023 (GRCm39) H584Q possibly damaging Het
Ppp1r12a A G 10: 108,089,193 (GRCm39) N611D possibly damaging Het
Prkcq G A 2: 11,288,643 (GRCm39) G532E probably benign Het
Prl6a1 A T 13: 27,501,980 (GRCm39) I116F probably damaging Het
Ptprh T A 7: 4,576,361 (GRCm39) T300S possibly damaging Het
Pwp1 A G 10: 85,721,480 (GRCm39) T361A possibly damaging Het
Rab4a A T 8: 124,554,081 (GRCm39) H5L probably damaging Het
Raet1e C A 10: 22,056,761 (GRCm39) H112Q possibly damaging Het
Ramp1 T C 1: 91,124,592 (GRCm39) I51T possibly damaging Het
Raph1 G T 1: 60,565,058 (GRCm39) T143K probably benign Het
Rhpn1 A G 15: 75,581,088 (GRCm39) E110G possibly damaging Het
Rnf168 A T 16: 32,117,287 (GRCm39) T283S possibly damaging Het
Ros1 T A 10: 51,977,857 (GRCm39) Y1463F possibly damaging Het
Rtn4ip1 A G 10: 43,797,430 (GRCm39) Q223R probably null Het
Rtp4 G T 16: 23,431,679 (GRCm39) M70I probably benign Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Satb1 T A 17: 52,047,374 (GRCm39) Q647L probably benign Het
Sec31b T C 19: 44,508,847 (GRCm39) probably benign Het
Sgo1 C T 17: 53,986,691 (GRCm39) D167N probably damaging Het
Slco1a8 T C 6: 141,936,147 (GRCm39) T313A probably benign Het
Smchd1 T C 17: 71,738,231 (GRCm39) I545V probably benign Het
St6gal1 G T 16: 23,139,891 (GRCm39) A21S probably damaging Het
Stard9 C A 2: 120,530,300 (GRCm39) L2186I probably damaging Het
Sun2 T A 15: 79,611,810 (GRCm39) probably benign Het
Taf4 G A 2: 179,565,884 (GRCm39) T849M probably damaging Het
Tdrd5 A T 1: 156,129,473 (GRCm39) I79N probably damaging Het
Tdrd7 A G 4: 45,987,582 (GRCm39) I72V probably damaging Het
Tnxb T A 17: 34,928,542 (GRCm39) V2652E possibly damaging Het
Tshz3 A G 7: 36,469,534 (GRCm39) T508A probably damaging Het
Ttc21b A G 2: 66,053,908 (GRCm39) L757P probably damaging Het
Ubtd2 A C 11: 32,449,223 (GRCm39) probably null Het
Ubtd2 G T 11: 32,449,224 (GRCm39) probably null Het
Vmn1r218 C T 13: 23,321,225 (GRCm39) Q111* probably null Het
Vmn2r75 G A 7: 85,797,309 (GRCm39) Q835* probably null Het
Vwa8 T A 14: 79,331,179 (GRCm39) M1229K probably benign Het
Wdr76 C T 2: 121,349,932 (GRCm39) R111C probably damaging Het
Xcr1 T A 9: 123,684,940 (GRCm39) D274V possibly damaging Het
Ypel5 C T 17: 73,153,332 (GRCm39) T12I probably benign Het
Other mutations in Trim30a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02677:Trim30a APN 7 104,085,120 (GRCm39) missense probably damaging 1.00
IGL02944:Trim30a APN 7 104,084,984 (GRCm39) missense probably benign 0.19
IGL03135:Trim30a APN 7 104,060,348 (GRCm39) missense probably damaging 0.98
BB009:Trim30a UTSW 7 104,078,545 (GRCm39) missense probably benign 0.00
BB019:Trim30a UTSW 7 104,078,545 (GRCm39) missense probably benign 0.00
R0049:Trim30a UTSW 7 104,078,559 (GRCm39) critical splice acceptor site probably null
R0682:Trim30a UTSW 7 104,078,389 (GRCm39) missense probably damaging 1.00
R1773:Trim30a UTSW 7 104,085,108 (GRCm39) missense probably damaging 1.00
R1862:Trim30a UTSW 7 104,060,405 (GRCm39) missense probably damaging 0.99
R1872:Trim30a UTSW 7 104,078,417 (GRCm39) missense probably benign 0.01
R1986:Trim30a UTSW 7 104,060,672 (GRCm39) missense probably damaging 1.00
R1991:Trim30a UTSW 7 104,079,437 (GRCm39) splice site probably benign
R2259:Trim30a UTSW 7 104,060,711 (GRCm39) missense probably damaging 1.00
R2571:Trim30a UTSW 7 104,078,533 (GRCm39) missense possibly damaging 0.93
R3719:Trim30a UTSW 7 104,060,370 (GRCm39) missense probably benign 0.00
R3880:Trim30a UTSW 7 104,060,396 (GRCm39) missense probably benign
R3910:Trim30a UTSW 7 104,060,348 (GRCm39) missense probably damaging 0.98
R3911:Trim30a UTSW 7 104,060,348 (GRCm39) missense probably damaging 0.98
R3912:Trim30a UTSW 7 104,060,348 (GRCm39) missense probably damaging 0.98
R4343:Trim30a UTSW 7 104,084,799 (GRCm39) missense probably benign 0.00
R4572:Trim30a UTSW 7 104,060,395 (GRCm39) nonsense probably null
R4587:Trim30a UTSW 7 104,084,851 (GRCm39) nonsense probably null
R4997:Trim30a UTSW 7 104,060,827 (GRCm39) missense probably benign 0.21
R5051:Trim30a UTSW 7 104,060,913 (GRCm39) intron probably benign
R5414:Trim30a UTSW 7 104,060,348 (GRCm39) missense probably damaging 1.00
R5613:Trim30a UTSW 7 104,079,389 (GRCm39) missense probably damaging 1.00
R5930:Trim30a UTSW 7 104,070,657 (GRCm39) missense possibly damaging 0.95
R6262:Trim30a UTSW 7 104,060,741 (GRCm39) missense probably benign 0.00
R7133:Trim30a UTSW 7 104,078,533 (GRCm39) missense possibly damaging 0.93
R7222:Trim30a UTSW 7 104,070,639 (GRCm39) splice site probably null
R7739:Trim30a UTSW 7 104,079,386 (GRCm39) missense possibly damaging 0.50
R7797:Trim30a UTSW 7 104,060,407 (GRCm39) missense possibly damaging 0.86
R7803:Trim30a UTSW 7 104,060,604 (GRCm39) nonsense probably null
R7836:Trim30a UTSW 7 104,084,802 (GRCm39) missense probably benign 0.06
R7908:Trim30a UTSW 7 104,070,656 (GRCm39) missense probably benign 0.01
R7932:Trim30a UTSW 7 104,078,545 (GRCm39) missense probably benign 0.00
R7934:Trim30a UTSW 7 104,061,448 (GRCm39) missense probably damaging 1.00
R8240:Trim30a UTSW 7 104,070,663 (GRCm39) missense probably benign 0.01
R8405:Trim30a UTSW 7 104,060,749 (GRCm39) nonsense probably null
R8778:Trim30a UTSW 7 104,060,772 (GRCm39) missense probably benign 0.30
R8825:Trim30a UTSW 7 104,060,529 (GRCm39) nonsense probably null
R9022:Trim30a UTSW 7 104,084,956 (GRCm39) missense probably benign 0.03
R9423:Trim30a UTSW 7 104,078,410 (GRCm39) missense probably damaging 1.00
R9492:Trim30a UTSW 7 104,078,330 (GRCm39) missense probably damaging 0.99
X0012:Trim30a UTSW 7 104,079,410 (GRCm39) nonsense probably null
Z1088:Trim30a UTSW 7 104,084,861 (GRCm39) missense probably damaging 1.00
Z1177:Trim30a UTSW 7 104,060,670 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAGGCAATAGCTTCCTGTCCCCTG -3'
(R):5'- TCACATGGCCTTGGTAAAGGTGAC -3'

Sequencing Primer
(F):5'- ATGTTCCACATCTGAGATGAGGTC -3'
(R):5'- TCCCAAGCTCAATTCCCTGT -3'
Posted On 2013-05-23