Incidental Mutation 'IGL02418:Tcp11l2'
ID 292529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcp11l2
Ensembl Gene ENSMUSG00000020034
Gene Name t-complex 11 (mouse) like 2
Synonyms E430026E19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL02418
Quality Score
Status
Chromosome 10
Chromosomal Location 84576626-84614359 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 84613606 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 478 (Y478*)
Ref Sequence ENSEMBL: ENSMUSP00000020223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020223]
AlphaFold Q8K1H7
Predicted Effect probably null
Transcript: ENSMUST00000020223
AA Change: Y478*
SMART Domains Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034
AA Change: Y478*

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: ENSMUST00000158471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181277
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,604,116 probably benign Het
Acsbg2 A G 17: 56,849,730 V436A probably benign Het
Afap1l1 T C 18: 61,752,577 D156G probably damaging Het
AI481877 A T 4: 59,049,075 probably benign Het
Arhgap21 G A 2: 20,880,900 R489C probably damaging Het
Arhgap26 G A 18: 39,357,567 probably benign Het
Bbs5 T G 2: 69,655,505 *89G probably null Het
Ceacam5 A T 7: 17,759,434 Y794F possibly damaging Het
Ces3b T C 8: 105,085,647 V176A probably damaging Het
Cfi A G 3: 129,848,812 H105R probably benign Het
Chat C T 14: 32,446,949 V210I possibly damaging Het
Chd1l A G 3: 97,581,099 S534P probably benign Het
Cyb5rl T C 4: 107,070,985 L106P probably damaging Het
Cyp21a1 A G 17: 34,804,188 probably benign Het
Dnah12 T C 14: 26,773,722 C1436R probably damaging Het
Flg2 T A 3: 93,201,054 F130I probably benign Het
Fryl T A 5: 73,110,176 probably benign Het
Galnt10 T C 11: 57,781,168 V428A probably benign Het
Ganab A G 19: 8,911,069 D496G probably null Het
Gapvd1 T C 2: 34,730,518 T44A probably benign Het
Gm17093 T A 14: 44,520,728 M122K unknown Het
Gm5356 A T 8: 89,187,436 noncoding transcript Het
Gmppa G T 1: 75,439,020 G126C probably damaging Het
Il23r T C 6: 67,490,672 H37R possibly damaging Het
Itga11 A G 9: 62,744,632 I349V probably benign Het
Lrrc42 A T 4: 107,243,336 Y159* probably null Het
Mettl11b A T 1: 163,703,156 V238E probably damaging Het
Naa16 C A 14: 79,383,366 R57L probably damaging Het
Olfr967 A G 9: 39,750,491 Y35C probably damaging Het
Oxtr A T 6: 112,477,239 H21Q probably damaging Het
Paqr7 A G 4: 134,506,973 Y47C probably damaging Het
Paxbp1 A C 16: 91,034,112 C459G probably damaging Het
Pnp2 C T 14: 50,963,836 R222C possibly damaging Het
Rtl1 T C 12: 109,590,449 D1652G probably damaging Het
Spata4 C A 8: 54,609,943 N294K probably benign Het
Tcte1 T A 17: 45,541,202 S454T probably benign Het
Tex45 T A 8: 3,476,080 F78I probably damaging Het
Thsd4 C T 9: 60,428,315 V105I probably damaging Het
Tmem117 T A 15: 94,931,884 I200N probably benign Het
Tpgs1 G A 10: 79,669,455 V16M probably benign Het
Ttn G T 2: 76,967,103 T539K probably benign Het
Usp24 A G 4: 106,436,360 S2542G probably benign Het
Vmn2r44 A T 7: 8,377,865 L343H probably damaging Het
Zmat2 T A 18: 36,794,339 Y21N probably damaging Het
Zyx C T 6: 42,357,393 A517V probably damaging Het
Other mutations in Tcp11l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Tcp11l2 APN 10 84594710 missense possibly damaging 0.82
IGL00845:Tcp11l2 APN 10 84604983 missense possibly damaging 0.95
IGL02375:Tcp11l2 APN 10 84605068 critical splice donor site probably null
IGL03325:Tcp11l2 APN 10 84604900 missense possibly damaging 0.76
R0031:Tcp11l2 UTSW 10 84591140 missense probably damaging 0.98
R0591:Tcp11l2 UTSW 10 84604594 missense probably benign 0.05
R1563:Tcp11l2 UTSW 10 84584944 missense probably damaging 0.96
R1607:Tcp11l2 UTSW 10 84613487 missense probably damaging 1.00
R1840:Tcp11l2 UTSW 10 84604599 missense probably damaging 0.98
R2144:Tcp11l2 UTSW 10 84613499 missense probably damaging 1.00
R2251:Tcp11l2 UTSW 10 84605069 critical splice donor site probably null
R4289:Tcp11l2 UTSW 10 84605073 splice site probably null
R4639:Tcp11l2 UTSW 10 84584936 missense probably damaging 1.00
R4844:Tcp11l2 UTSW 10 84613691 missense probably benign 0.00
R4973:Tcp11l2 UTSW 10 84591163 missense probably damaging 0.98
R5264:Tcp11l2 UTSW 10 84613660 missense probably damaging 1.00
R5970:Tcp11l2 UTSW 10 84594797 splice site probably benign
R6966:Tcp11l2 UTSW 10 84591269 missense possibly damaging 0.79
R7250:Tcp11l2 UTSW 10 84587241 critical splice donor site probably null
R7535:Tcp11l2 UTSW 10 84594659 missense possibly damaging 0.67
R7565:Tcp11l2 UTSW 10 84587134 missense probably damaging 1.00
R7619:Tcp11l2 UTSW 10 84594758 missense probably damaging 1.00
R7774:Tcp11l2 UTSW 10 84604983 missense possibly damaging 0.95
R8145:Tcp11l2 UTSW 10 84608616 missense probably damaging 1.00
R8379:Tcp11l2 UTSW 10 84613605 missense probably damaging 1.00
R8458:Tcp11l2 UTSW 10 84613532 nonsense probably null
R8821:Tcp11l2 UTSW 10 84613658 missense probably damaging 1.00
R8831:Tcp11l2 UTSW 10 84613658 missense probably damaging 1.00
RF008:Tcp11l2 UTSW 10 84613524 missense probably damaging 0.99
Posted On 2015-04-16