Incidental Mutation 'R0683:Tcp11l1'
ID 61040
Institutional Source Beutler Lab
Gene Symbol Tcp11l1
Ensembl Gene ENSMUSG00000027175
Gene Name t-complex 11 like 1
Synonyms C130096D04Rik
MMRRC Submission 038868-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R0683 (G1)
Quality Score 110
Status Not validated
Chromosome 2
Chromosomal Location 104497587-104542525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104512237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 465 (V465E)
Ref Sequence ENSEMBL: ENSMUSP00000106747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028597] [ENSMUST00000111118]
AlphaFold Q8BTG3
Predicted Effect possibly damaging
Transcript: ENSMUST00000028597
AA Change: V465E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028597
Gene: ENSMUSG00000027175
AA Change: V465E

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
Pfam:Tcp11 78 502 3.9e-105 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111118
AA Change: V465E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106747
Gene: ENSMUSG00000027175
AA Change: V465E

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 T C 4: 132,792,827 (GRCm39) F1356S possibly damaging Het
Atg16l2 T C 7: 100,939,591 (GRCm39) D533G probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Eif3i G T 4: 129,487,328 (GRCm39) N162K probably benign Het
Exoc8 A G 8: 125,622,372 (GRCm39) I665T probably damaging Het
Ggt7 A G 2: 155,348,428 (GRCm39) S75P probably benign Het
Gjd3 A T 11: 102,691,237 (GRCm39) F255L probably benign Het
Krt1 A G 15: 101,758,901 (GRCm39) F88L unknown Het
Maml3 G A 3: 51,764,173 (GRCm39) Q264* probably null Het
Ncoa4-ps T C 12: 119,224,813 (GRCm39) noncoding transcript Het
Neu1 A T 17: 35,153,301 (GRCm39) probably null Het
Nrp2 A G 1: 62,783,477 (GRCm39) T193A probably benign Het
Or4c12b C G 2: 89,647,522 (GRCm39) P278R probably damaging Het
P4ha1 A G 10: 59,172,969 (GRCm39) T23A probably benign Het
Pgm1 A G 4: 99,818,740 (GRCm39) I112V probably damaging Het
Ptprs A T 17: 56,721,086 (GRCm39) V1385D probably damaging Het
Rasal2 A G 1: 157,006,779 (GRCm39) S111P probably damaging Het
Serpinb13 A G 1: 106,926,751 (GRCm39) N249S probably damaging Het
Sh3pxd2a T C 19: 47,255,950 (GRCm39) T923A probably benign Het
Speg G A 1: 75,405,762 (GRCm39) A2989T probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Ttn G A 2: 76,768,653 (GRCm39) T2973I unknown Het
Vav3 C A 3: 109,559,129 (GRCm39) Q110K probably benign Het
Xcr1 T C 9: 123,684,940 (GRCm39) D274G probably benign Het
Zfp763 G A 17: 33,237,892 (GRCm39) P418S probably damaging 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
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
V8831:Tcp11l1 UTSW 2 104,515,829 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AATGTACCGTAGGCCGCCATTC -3'
(R):5'- TTCCCCGAGAAAGAGATGACTCCC -3'

Sequencing Primer
(F):5'- GCCGCCATTCTCCGAAG -3'
(R):5'- cgagaaagagatgactcccttaac -3'
Posted On 2013-07-30