Incidental Mutation 'R9688:Tent4a'
ID 729006
Institutional Source Beutler Lab
Gene Symbol Tent4a
Ensembl Gene ENSMUSG00000034575
Gene Name terminal nucleotidyltransferase 4A
Synonyms TRF4, Pols, TRF4-1, Papd7, LAK-1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R9688 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 69646071-69682710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69655199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 425 (L425P)
Ref Sequence ENSEMBL: ENSMUSP00000142516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044081] [ENSMUST00000198607] [ENSMUST00000223344]
AlphaFold Q6PB75
Predicted Effect probably damaging
Transcript: ENSMUST00000044081
AA Change: L182P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040757
Gene: ENSMUSG00000034575
AA Change: L182P

DomainStartEndE-ValueType
Pfam:NTP_transf_2 15 124 4.1e-20 PFAM
Pfam:PAP_assoc 178 238 5.4e-19 PFAM
low complexity region 343 368 N/A INTRINSIC
low complexity region 496 505 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000198607
AA Change: L425P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142516
Gene: ENSMUSG00000034575
AA Change: L425P

DomainStartEndE-ValueType
low complexity region 46 98 N/A INTRINSIC
low complexity region 106 118 N/A INTRINSIC
low complexity region 122 145 N/A INTRINSIC
low complexity region 206 220 N/A INTRINSIC
Pfam:NTP_transf_2 258 368 1.6e-14 PFAM
Pfam:PAP_assoc 421 481 8.3e-16 PFAM
low complexity region 586 611 N/A INTRINSIC
low complexity region 739 748 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000223344
AA Change: L182P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010]
Allele List at MGI

All alleles(5) : Targeted(4) Gene trapped(1)

Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A G 11: 23,469,067 (GRCm39) probably null Het
Abca2 G C 2: 25,324,459 (GRCm39) A272P possibly damaging Het
Adarb1 T A 10: 77,147,099 (GRCm39) D479V probably damaging Het
Amz2 T C 11: 109,320,765 (GRCm39) F162S probably damaging Het
Ano4 A T 10: 89,180,506 (GRCm39) M1K probably null Het
Antxr1 G A 6: 87,114,334 (GRCm39) R478C probably damaging Het
Apobr T C 7: 126,186,663 (GRCm39) S725P probably benign Het
Arap2 A T 5: 62,872,109 (GRCm39) D506E probably damaging Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Camk1g T A 1: 193,031,029 (GRCm39) R305W probably damaging Het
Ces2g A T 8: 105,691,304 (GRCm39) I147F probably benign Het
Cfap61 T C 2: 145,878,758 (GRCm39) F505L probably damaging Het
Cndp1 G C 18: 84,655,982 (GRCm39) N62K probably benign Het
Cog6 G T 3: 52,916,528 (GRCm39) Q214K probably benign Het
Depdc5 T A 5: 33,055,276 (GRCm39) Y226* probably null Het
Elp5 T A 11: 69,861,425 (GRCm39) I185F probably damaging Het
Ercc6 A C 14: 32,297,755 (GRCm39) H1334P probably benign Het
Ern1 T C 11: 106,349,836 (GRCm39) T27A possibly damaging Het
Esf1 A T 2: 140,010,095 (GRCm39) D80E probably damaging Het
Evpl T C 11: 116,124,986 (GRCm39) K159E probably damaging Het
Gbx1 T C 5: 24,731,510 (GRCm39) Y102C probably damaging Het
Gjd2 A G 2: 113,842,109 (GRCm39) S123P probably benign Het
H2-M11 A G 17: 36,859,054 (GRCm39) Y198C probably damaging Het
Hps1 A C 19: 42,755,147 (GRCm39) V265G probably benign Het
Ifna16 C A 4: 88,594,874 (GRCm39) E74* probably null Het
Inca1 C T 11: 70,579,810 (GRCm39) probably null Het
Jag2 A G 12: 112,872,564 (GRCm39) V1230A probably benign Het
Jam3 G A 9: 27,010,204 (GRCm39) T260M probably benign Het
Klhl5 A T 5: 65,321,930 (GRCm39) D652V probably damaging Het
L3mbtl1 A T 2: 162,790,697 (GRCm39) I81L possibly damaging Het
Lgalsl C T 11: 20,779,442 (GRCm39) A68T probably benign Het
Map3k14 T A 11: 103,130,059 (GRCm39) D286V possibly damaging Het
Mdn1 A G 4: 32,745,590 (GRCm39) I4083V probably damaging Het
Ms4a5 T C 19: 11,254,058 (GRCm39) I136M possibly damaging Het
Mtcl3 T C 10: 29,072,691 (GRCm39) V661A possibly damaging Het
Naa16 A T 14: 79,573,309 (GRCm39) Y820* probably null Het
Nbea G T 3: 55,557,165 (GRCm39) N2537K probably benign Het
Ncapd3 A G 9: 26,967,349 (GRCm39) S562G probably benign Het
Or5t5 A C 2: 86,617,005 (GRCm39) K310N probably damaging Het
Or6c1b C A 10: 129,272,967 (GRCm39) C95* probably null Het
Pcdhac2 A G 18: 37,277,628 (GRCm39) S203G probably benign Het
Pds5a A T 5: 65,812,196 (GRCm39) F309I probably benign Het
Pdzd8 G A 19: 59,333,683 (GRCm39) L113F probably benign Het
Pex12 T C 11: 83,189,257 (GRCm39) Y4C possibly damaging Het
Ppfibp2 A G 7: 107,318,448 (GRCm39) D332G probably benign Het
Psg23 A T 7: 18,344,547 (GRCm39) W303R probably damaging Het
Pyy T A 11: 101,998,099 (GRCm39) D27V probably damaging Het
Rc3h1 A G 1: 160,770,234 (GRCm39) Q302R probably damaging Het
Rhoh A G 5: 66,049,656 (GRCm39) probably benign Het
Samd9l A G 6: 3,377,087 (GRCm39) M58T probably damaging Het
Scaf11 A C 15: 96,313,808 (GRCm39) H1324Q probably damaging Het
Serinc2 C A 4: 130,158,133 (GRCm39) A105S probably damaging Het
Setx A T 2: 29,036,328 (GRCm39) S938C probably damaging Het
Sgo2a A T 1: 58,056,737 (GRCm39) T974S probably damaging Het
Sh3rf1 T C 8: 61,679,348 (GRCm39) V130A probably benign Het
Slc43a2 T C 11: 75,434,112 (GRCm39) F97L probably damaging Het
Slc9a9 C A 9: 95,111,107 (GRCm39) Q642K probably benign Het
Sox6 G T 7: 115,076,225 (GRCm39) D804E probably benign Het
Tbx15 A T 3: 99,233,708 (GRCm39) R290S possibly damaging Het
Terf2 A G 8: 107,821,543 (GRCm39) S176P probably damaging Het
Ttc6 A T 12: 57,720,602 (GRCm39) H956L possibly damaging Het
Tti2 T C 8: 31,644,279 (GRCm39) V292A probably damaging Het
Vmn1r29 A T 6: 58,284,739 (GRCm39) E153V probably benign Het
Vmn1r55 G T 7: 5,149,669 (GRCm39) H251Q probably benign Het
Yeats4 T C 10: 117,051,586 (GRCm39) T224A probably benign Het
Yipf4 T A 17: 74,806,078 (GRCm39) F239Y probably benign Het
Zan T C 5: 137,466,717 (GRCm39) D380G probably damaging Het
Zbtb9 T C 17: 27,193,894 (GRCm39) F433S probably damaging Het
Zic5 T C 14: 122,701,435 (GRCm39) K432R unknown Het
Other mutations in Tent4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Tent4a APN 13 69,648,678 (GRCm39) missense probably benign 0.02
IGL02690:Tent4a APN 13 69,658,744 (GRCm39) missense probably benign 0.01
IGL03047:Tent4a UTSW 13 69,651,030 (GRCm39) missense probably damaging 1.00
P0027:Tent4a UTSW 13 69,655,074 (GRCm39) nonsense probably null
R0309:Tent4a UTSW 13 69,648,051 (GRCm39) missense possibly damaging 0.95
R1713:Tent4a UTSW 13 69,651,170 (GRCm39) missense probably benign 0.10
R2936:Tent4a UTSW 13 69,650,446 (GRCm39) missense possibly damaging 0.82
R3809:Tent4a UTSW 13 69,661,115 (GRCm39) missense probably damaging 0.98
R4927:Tent4a UTSW 13 69,651,019 (GRCm39) splice site probably null
R6419:Tent4a UTSW 13 69,658,785 (GRCm39) missense possibly damaging 0.91
R7011:Tent4a UTSW 13 69,648,199 (GRCm39) missense probably damaging 1.00
R7505:Tent4a UTSW 13 69,655,047 (GRCm39) missense probably damaging 1.00
R7547:Tent4a UTSW 13 69,681,823 (GRCm39) missense probably benign 0.04
R7554:Tent4a UTSW 13 69,648,191 (GRCm39) missense probably damaging 1.00
R8040:Tent4a UTSW 13 69,648,600 (GRCm39) missense probably damaging 0.99
R8124:Tent4a UTSW 13 69,681,716 (GRCm39) unclassified probably benign
R8777:Tent4a UTSW 13 69,658,824 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Tent4a UTSW 13 69,658,824 (GRCm39) missense probably damaging 1.00
R8919:Tent4a UTSW 13 69,651,828 (GRCm39) missense possibly damaging 0.83
R9175:Tent4a UTSW 13 69,663,915 (GRCm39) missense probably damaging 1.00
R9517:Tent4a UTSW 13 69,655,059 (GRCm39) missense probably damaging 1.00
R9624:Tent4a UTSW 13 69,651,787 (GRCm39) missense probably damaging 1.00
RF027:Tent4a UTSW 13 69,681,973 (GRCm39) unclassified probably benign
RF039:Tent4a UTSW 13 69,681,973 (GRCm39) unclassified probably benign
T0722:Tent4a UTSW 13 69,655,074 (GRCm39) nonsense probably null
Z1177:Tent4a UTSW 13 69,651,753 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GAGATAAGCCAGCACTGTGC -3'
(R):5'- CCAACAGAGGCTGTCCATTGTC -3'

Sequencing Primer
(F):5'- ACTGTGCTTCCAGCCAGAG -3'
(R):5'- CAGAGGCTGTCCATTGTCTTGTG -3'
Posted On 2022-10-06