Incidental Mutation 'R0591:Tcp11l2'
ID 55989
Institutional Source Beutler Lab
Gene Symbol Tcp11l2
Ensembl Gene ENSMUSG00000020034
Gene Name t-complex 11 (mouse) like 2
Synonyms E430026E19Rik
MMRRC Submission 038781-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R0591 (G1)
Quality Score 178
Status Validated
Chromosome 10
Chromosomal Location 84412811-84450219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84440458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 287 (H287L)
Ref Sequence ENSEMBL: ENSMUSP00000020223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020223]
AlphaFold Q8K1H7
Predicted Effect probably benign
Transcript: ENSMUST00000020223
AA Change: H287L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034
AA Change: H287L

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 36 55 N/A INTRINSIC
Pfam:Tcp11 77 497 5.8e-103 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160057
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.7%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,774,704 (GRCm39) E1298* probably null Het
Aadacl2fm2 C A 3: 59,659,550 (GRCm39) Y334* probably null Het
Adam19 T C 11: 46,012,238 (GRCm39) probably benign Het
Agt A T 8: 125,283,678 (GRCm39) S480R possibly damaging Het
Anapc1 G T 2: 128,461,252 (GRCm39) D1769E probably benign Het
Aox4 T C 1: 58,278,261 (GRCm39) probably benign Het
Apol9b G A 15: 77,619,830 (GRCm39) V209I possibly damaging Het
Appl2 A T 10: 83,460,509 (GRCm39) I116K possibly damaging Het
BC051665 A G 13: 60,932,422 (GRCm39) probably benign Het
Cactin G T 10: 81,159,837 (GRCm39) E89* probably null Het
Carf G T 1: 60,165,073 (GRCm39) probably benign Het
Ccdc167 A G 17: 29,924,235 (GRCm39) probably benign Het
Ceacam3 G A 7: 16,885,808 (GRCm39) probably null Het
Clca4b T A 3: 144,621,353 (GRCm39) K574* probably null Het
Crabp1 T A 9: 54,672,887 (GRCm39) I64N probably damaging Het
Dgkd T A 1: 87,842,826 (GRCm39) I118N probably damaging Het
Dglucy T C 12: 100,825,777 (GRCm39) probably benign Het
Dock10 C T 1: 80,518,936 (GRCm39) probably benign Het
Ednrb A T 14: 104,060,710 (GRCm39) probably null Het
Ercc6 T C 14: 32,279,973 (GRCm39) probably benign Het
Golga3 A C 5: 110,336,609 (GRCm39) Q416P probably damaging Het
Gpr12 A G 5: 146,520,445 (GRCm39) V159A probably benign Het
Heatr5a A T 12: 51,956,884 (GRCm39) probably benign Het
Helz2 A G 2: 180,873,909 (GRCm39) I2195T probably damaging Het
Hikeshi A T 7: 89,569,295 (GRCm39) N76K possibly damaging Het
Hsd11b1 T C 1: 192,911,984 (GRCm39) probably benign Het
Iftap A T 2: 101,406,462 (GRCm39) D155E probably benign Het
Inhba A T 13: 16,201,405 (GRCm39) K322N probably damaging Het
Katnal1 A T 5: 148,829,326 (GRCm39) F291L probably damaging Het
Kcnj9 T C 1: 172,150,665 (GRCm39) E316G probably damaging Het
Lrsam1 A G 2: 32,823,935 (GRCm39) probably benign Het
Mcf2l T G 8: 13,068,751 (GRCm39) S1075A probably benign Het
Mios T C 6: 8,215,470 (GRCm39) V222A possibly damaging Het
Mycbp2 A T 14: 103,433,827 (GRCm39) probably benign Het
Nars1 A T 18: 64,633,638 (GRCm39) I544N probably damaging Het
Or5ak23 A G 2: 85,245,034 (GRCm39) L63P possibly damaging Het
Pbrm1 A G 14: 30,768,387 (GRCm39) probably benign Het
Plcb4 A G 2: 135,796,932 (GRCm39) probably benign Het
Pnliprp1 A G 19: 58,723,138 (GRCm39) D213G probably damaging Het
Psap A G 10: 60,136,634 (GRCm39) N538D possibly damaging Het
Ptdss1 A G 13: 67,120,714 (GRCm39) probably benign Het
Rap1b G A 10: 117,654,522 (GRCm39) probably benign Het
Rhcg T A 7: 79,244,520 (GRCm39) probably benign Het
Ryr1 G A 7: 28,804,220 (GRCm39) T550I possibly damaging Het
Samm50 G A 15: 84,095,369 (GRCm39) G452R probably benign Het
Scin A G 12: 40,130,929 (GRCm39) probably null Het
Sesn3 T C 9: 14,219,854 (GRCm39) L81S probably damaging Het
Skint6 A C 4: 112,715,366 (GRCm39) probably benign Het
Slc30a4 A T 2: 122,527,160 (GRCm39) L411H probably damaging Het
Slc44a5 C T 3: 153,939,782 (GRCm39) probably benign Het
Slc4a3 C T 1: 75,525,665 (GRCm39) A255V probably damaging Het
Slc9b1 A G 3: 135,088,593 (GRCm39) N318S possibly damaging Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tnks2 T A 19: 36,849,962 (GRCm39) Y605N probably damaging Het
Topbp1 T A 9: 103,227,037 (GRCm39) N1490K probably benign Het
Ube4b T G 4: 149,442,034 (GRCm39) probably benign Het
Usp4 G A 9: 108,225,228 (GRCm39) probably benign Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn1r184 A T 7: 25,966,500 (GRCm39) D82V probably damaging Het
Other mutations in Tcp11l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Tcp11l2 APN 10 84,430,574 (GRCm39) missense possibly damaging 0.82
IGL00845:Tcp11l2 APN 10 84,440,847 (GRCm39) missense possibly damaging 0.95
IGL02375:Tcp11l2 APN 10 84,440,932 (GRCm39) critical splice donor site probably null
IGL02418:Tcp11l2 APN 10 84,449,470 (GRCm39) nonsense probably null
IGL03325:Tcp11l2 APN 10 84,440,764 (GRCm39) missense possibly damaging 0.76
R0031:Tcp11l2 UTSW 10 84,427,004 (GRCm39) missense probably damaging 0.98
R1563:Tcp11l2 UTSW 10 84,420,808 (GRCm39) missense probably damaging 0.96
R1607:Tcp11l2 UTSW 10 84,449,351 (GRCm39) missense probably damaging 1.00
R1840:Tcp11l2 UTSW 10 84,440,463 (GRCm39) missense probably damaging 0.98
R2144:Tcp11l2 UTSW 10 84,449,363 (GRCm39) missense probably damaging 1.00
R2251:Tcp11l2 UTSW 10 84,440,933 (GRCm39) critical splice donor site probably null
R4289:Tcp11l2 UTSW 10 84,440,937 (GRCm39) splice site probably null
R4639:Tcp11l2 UTSW 10 84,420,800 (GRCm39) missense probably damaging 1.00
R4844:Tcp11l2 UTSW 10 84,449,555 (GRCm39) missense probably benign 0.00
R4973:Tcp11l2 UTSW 10 84,427,027 (GRCm39) missense probably damaging 0.98
R5264:Tcp11l2 UTSW 10 84,449,524 (GRCm39) missense probably damaging 1.00
R5970:Tcp11l2 UTSW 10 84,430,661 (GRCm39) splice site probably benign
R6966:Tcp11l2 UTSW 10 84,427,133 (GRCm39) missense possibly damaging 0.79
R7250:Tcp11l2 UTSW 10 84,423,105 (GRCm39) critical splice donor site probably null
R7535:Tcp11l2 UTSW 10 84,430,523 (GRCm39) missense possibly damaging 0.67
R7565:Tcp11l2 UTSW 10 84,422,998 (GRCm39) missense probably damaging 1.00
R7619:Tcp11l2 UTSW 10 84,430,622 (GRCm39) missense probably damaging 1.00
R7774:Tcp11l2 UTSW 10 84,440,847 (GRCm39) missense possibly damaging 0.95
R8145:Tcp11l2 UTSW 10 84,444,480 (GRCm39) missense probably damaging 1.00
R8379:Tcp11l2 UTSW 10 84,449,469 (GRCm39) missense probably damaging 1.00
R8458:Tcp11l2 UTSW 10 84,449,396 (GRCm39) nonsense probably null
R8821:Tcp11l2 UTSW 10 84,449,522 (GRCm39) missense probably damaging 1.00
R8831:Tcp11l2 UTSW 10 84,449,522 (GRCm39) missense probably damaging 1.00
RF008:Tcp11l2 UTSW 10 84,449,388 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGCCATCAGGTGTCACTCTGAAG -3'
(R):5'- GAAGCCCAGTGCCATGAAAACG -3'

Sequencing Primer
(F):5'- TGGGACCTTCTTAGAAATCTGTC -3'
(R):5'- GCAATGTCATAGACACATCCTCATTC -3'
Posted On 2013-07-11