Incidental Mutation 'V8831:Tcp11l1'
ID 44608
Institutional Source Beutler Lab
Gene Symbol Tcp11l1
Ensembl Gene ENSMUSG00000027175
Gene Name t-complex 11 like 1
Synonyms C130096D04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # V8831 () of strain 710
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 104497587-104542525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 104515829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 345 (V345L)
Ref Sequence ENSEMBL: ENSMUSP00000106747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028597] [ENSMUST00000111118]
AlphaFold Q8BTG3
Predicted Effect probably benign
Transcript: ENSMUST00000028597
AA Change: V345L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028597
Gene: ENSMUSG00000027175
AA Change: V345L

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
Pfam:Tcp11 78 502 3.9e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111118
AA Change: V345L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106747
Gene: ENSMUSG00000027175
AA Change: V345L

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
Pfam:Tcp11 77 505 5.2e-134 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129792
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsa1 A G 12: 87,316,697 (GRCm39) N107S probably damaging Het
Arhgap23 A G 11: 97,347,371 (GRCm39) I690V probably benign Het
Bard1 G A 1: 71,127,376 (GRCm39) P78S probably damaging Het
Ccar1 G A 10: 62,583,185 (GRCm39) T976I unknown Het
Cdc7 T A 5: 107,116,776 (GRCm39) N50K probably benign Het
Cep85 C T 4: 133,883,380 (GRCm39) E170K possibly damaging Het
Cpsf2 C T 12: 101,969,400 (GRCm39) R757C probably damaging Het
Csmd3 A T 15: 48,321,092 (GRCm39) D239E probably damaging Het
Dnah7b T G 1: 46,412,458 (GRCm39) Y4022* probably null Het
Elmo3 A G 8: 106,033,693 (GRCm39) N179S probably benign Het
H2bc11 G C 13: 22,227,451 (GRCm39) probably benign Het
H2-T24 T A 17: 36,328,216 (GRCm39) Q89L probably damaging Het
Irak4 T C 15: 94,459,365 (GRCm39) I327T probably damaging Het
Itpr2 A T 6: 146,287,380 (GRCm39) L157Q probably damaging Het
Lama1 G A 17: 68,059,878 (GRCm39) D656N probably benign Het
Lrrc72 G T 12: 36,258,656 (GRCm39) T67K possibly damaging Het
Map2 T G 1: 66,455,004 (GRCm39) I1298S probably damaging Het
Mroh2a T TN 1: 88,183,889 (GRCm39) probably null Het
Ndst1 G A 18: 60,835,999 (GRCm39) A428V probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Or2w1b T C 13: 21,300,173 (GRCm39) Y104H possibly damaging Het
Or5k14 G T 16: 58,693,438 (GRCm39) T25K probably benign Het
Or5p4 C T 7: 107,680,742 (GRCm39) A247V probably benign Het
Plxna1 A G 6: 89,334,119 (GRCm39) V170A probably damaging Het
Rfx6 G A 10: 51,594,304 (GRCm39) probably null Het
Shprh G A 10: 11,062,606 (GRCm39) D1238N probably damaging Het
Slc15a2 A G 16: 36,772,445 (GRCm38) M179T probably benign Het
Slc9c1 A T 16: 45,398,262 (GRCm39) I676F possibly damaging Het
Smoc1 A G 12: 81,215,029 (GRCm39) D305G probably damaging Het
Spdef C T 17: 27,937,051 (GRCm39) R184H probably damaging Het
Stxbp4 C T 11: 90,371,497 (GRCm39) A535T probably benign Het
Ticam1 TC T 17: 56,576,969 (GRCm39) 708 probably null Het
Ttc28 A T 5: 111,248,578 (GRCm39) Y177F probably benign Het
Ugt2b34 A T 5: 87,054,533 (GRCm39) Y83N probably benign Het
Vmn2r30 G A 7: 7,337,148 (GRCm39) R163C probably benign Het
Xirp1 T G 9: 120,016,907 (GRCm38) Q970P probably benign Het
Other mutations in Tcp11l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Tcp11l1 APN 2 104,536,831 (GRCm39) missense probably benign
IGL01999:Tcp11l1 APN 2 104,528,914 (GRCm39) missense possibly damaging 0.61
IGL02792:Tcp11l1 APN 2 104,512,165 (GRCm39) missense probably benign 0.19
R0376:Tcp11l1 UTSW 2 104,527,850 (GRCm39) splice site probably benign
R0683:Tcp11l1 UTSW 2 104,512,237 (GRCm39) missense possibly damaging 0.90
R0828:Tcp11l1 UTSW 2 104,530,181 (GRCm39) splice site probably benign
R2091:Tcp11l1 UTSW 2 104,514,484 (GRCm39) missense possibly damaging 0.77
R2095:Tcp11l1 UTSW 2 104,512,185 (GRCm39) missense probably damaging 1.00
R3750:Tcp11l1 UTSW 2 104,528,887 (GRCm39) missense probably damaging 1.00
R4456:Tcp11l1 UTSW 2 104,514,567 (GRCm39) missense probably damaging 1.00
R4926:Tcp11l1 UTSW 2 104,512,130 (GRCm39) missense probably benign 0.01
R5184:Tcp11l1 UTSW 2 104,530,289 (GRCm39) missense probably damaging 1.00
R5461:Tcp11l1 UTSW 2 104,518,856 (GRCm39) missense probably benign 0.00
R6979:Tcp11l1 UTSW 2 104,536,784 (GRCm39) missense probably benign
R7387:Tcp11l1 UTSW 2 104,530,275 (GRCm39) missense possibly damaging 0.92
R7443:Tcp11l1 UTSW 2 104,514,480 (GRCm39) missense probably benign 0.01
R7872:Tcp11l1 UTSW 2 104,536,837 (GRCm39) missense probably benign 0.25
R7940:Tcp11l1 UTSW 2 104,528,993 (GRCm39) missense probably damaging 1.00
R8399:Tcp11l1 UTSW 2 104,515,720 (GRCm39) missense probably benign 0.09
R8431:Tcp11l1 UTSW 2 104,530,314 (GRCm39) missense probably damaging 0.96
R8445:Tcp11l1 UTSW 2 104,512,278 (GRCm39) missense probably benign 0.02
R8810:Tcp11l1 UTSW 2 104,518,763 (GRCm39) missense probably benign 0.00
R8988:Tcp11l1 UTSW 2 104,536,853 (GRCm39) missense probably damaging 1.00
R9057:Tcp11l1 UTSW 2 104,528,026 (GRCm39) missense probably damaging 1.00
R9109:Tcp11l1 UTSW 2 104,528,897 (GRCm39) missense possibly damaging 0.67
R9298:Tcp11l1 UTSW 2 104,528,897 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- GTCACAGCCACGTTGCTCATTG -3'
(R):5'- TTGGGTTTATCGCCAGACCTGC -3'

Sequencing Primer
(F):5'- CCTGTAGCTTGAACATGATAGCC -3'
(R):5'- CTGCCTGAGCTAACATGTGG -3'
Posted On 2013-06-11