Incidental Mutation 'IGL03047:Tent4a'
ID 392237
Institutional Source Beutler Lab
Gene Symbol Tent4a
Ensembl Gene ENSMUSG00000034575
Gene Name terminal nucleotidyltransferase 4A
Synonyms TRF4, Pols, TRF4-1, Papd7, LAK-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # IGL03047 (G1)
Quality Score 49
Status Validated
Chromosome 13
Chromosomal Location 69646071-69682710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69651030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 369 (D369Y)
Ref Sequence ENSEMBL: ENSMUSP00000152244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044081] [ENSMUST00000198607] [ENSMUST00000223344]
AlphaFold Q6PB75
Predicted Effect probably damaging
Transcript: ENSMUST00000044081
AA Change: D369Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040757
Gene: ENSMUSG00000034575
AA Change: D369Y

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: D612Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142516
Gene: ENSMUSG00000034575
AA Change: D612Y

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: D369Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3218 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (41/42)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,246,568 (GRCm39) H21Q possibly damaging Het
4933427D14Rik A G 11: 72,057,552 (GRCm39) I749T possibly damaging Het
Adam22 A G 5: 8,132,220 (GRCm39) S869P probably damaging Het
Add3 A G 19: 53,231,022 (GRCm39) T566A probably benign Het
Asic3 A C 5: 24,618,788 (GRCm39) M27L probably benign Het
Atp2c1 T A 9: 105,398,206 (GRCm39) probably benign Het
Cabin1 A T 10: 75,535,934 (GRCm39) probably benign Het
Ccr7 C T 11: 99,036,160 (GRCm39) R254H probably benign Het
Cdk2ap1 G T 5: 124,486,753 (GRCm39) A63E possibly damaging Het
Cfap70 T C 14: 20,498,646 (GRCm39) T14A possibly damaging Het
Cldn11 T A 3: 31,217,256 (GRCm39) F141L probably damaging Het
Comp G T 8: 70,827,559 (GRCm39) A107S possibly damaging Het
Cyp2b23 A T 7: 26,380,892 (GRCm39) probably benign Het
Cyp2c68 T G 19: 39,722,904 (GRCm39) I215L probably benign Het
Cyp4f17 T A 17: 32,743,023 (GRCm39) I232K possibly damaging Het
Dram2 T G 3: 106,480,345 (GRCm39) F219L probably damaging Het
Fam186a G A 15: 99,843,589 (GRCm39) A885V unknown Het
Fbxo42 A G 4: 140,926,853 (GRCm39) T378A possibly damaging Het
Frmpd1 T A 4: 45,283,993 (GRCm39) V938E probably damaging Het
Gramd1c C A 16: 43,808,610 (GRCm39) L489F probably damaging Het
Il17ra T C 6: 120,458,187 (GRCm39) I446T probably damaging Het
Il36g G A 2: 24,082,719 (GRCm39) A165T probably damaging Het
Kcne4 G T 1: 78,795,495 (GRCm39) V48F possibly damaging Het
Ly6g6c T A 17: 35,288,325 (GRCm39) probably null Het
Mars2 A G 1: 55,278,032 (GRCm39) Y545C probably benign Het
Mmp12 T G 9: 7,357,797 (GRCm39) probably benign Het
Mthfd1l T A 10: 3,930,409 (GRCm39) probably benign Het
Nop14 C T 5: 34,817,358 (GRCm39) R11K possibly damaging Het
Npas3 T A 12: 53,878,470 (GRCm39) probably benign Het
Odf2 A T 2: 29,810,907 (GRCm39) probably benign Het
Or2y1d A G 11: 49,321,794 (GRCm39) M164V probably benign Het
Or5p73 T C 7: 108,064,983 (GRCm39) S151P probably damaging Het
Or5w16 A G 2: 87,577,338 (GRCm39) Y266C possibly damaging Het
Or6s1 A G 14: 51,308,613 (GRCm39) I79T possibly damaging Het
Otud7b T C 3: 96,058,301 (GRCm39) probably benign Het
Plcg1 T C 2: 160,596,799 (GRCm39) Y747H probably damaging Het
Runx1t1 G A 4: 13,865,882 (GRCm39) V357I probably damaging Het
Seh1l C G 18: 67,922,520 (GRCm39) T291R probably damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sulf2 G T 2: 165,922,814 (GRCm39) probably null Het
Tex14 C T 11: 87,427,530 (GRCm39) S1174F probably damaging Het
Tm9sf4 A G 2: 153,003,326 (GRCm39) probably benign Het
Vmn2r7 G A 3: 64,614,639 (GRCm39) H392Y possibly damaging Het
Zfhx4 T A 3: 5,308,793 (GRCm39) V673D probably damaging 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
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
R9688:Tent4a UTSW 13 69,655,199 (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'- ACAGCCAGGGGTTCTTAAAG -3'
(R):5'- TGCCCCAGACAACAGGATTAAG -3'

Sequencing Primer
(F):5'- GGTTCTTAAAGCCTATGTCAAAGAAC -3'
(R):5'- CCCAGACAACAGGATTAAGATAAAG -3'
Posted On 2016-06-09