Incidental Mutation 'R1774:Tut4'
ID 196903
Institutional Source Beutler Lab
Gene Symbol Tut4
Ensembl Gene ENSMUSG00000034610
Gene Name terminal uridylyl transferase 4
Synonyms 9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11
MMRRC Submission 039805-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1774 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 108316623-108416618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108365152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 542 (F542L)
Ref Sequence ENSEMBL: ENSMUSP00000095538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043368] [ENSMUST00000097925] [ENSMUST00000155068]
AlphaFold B2RX14
Predicted Effect probably damaging
Transcript: ENSMUST00000043368
AA Change: F542L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: F542L

DomainStartEndE-ValueType
low complexity region 260 275 N/A INTRINSIC
SCOP:d1f5aa2 363 569 2e-23 SMART
Pfam:PAP_assoc 648 701 1.2e-13 PFAM
low complexity region 743 758 N/A INTRINSIC
low complexity region 815 828 N/A INTRINSIC
ZnF_C2HC 931 947 7.79e-3 SMART
Pfam:NTP_transf_2 995 1085 4.2e-10 PFAM
Pfam:PAP_assoc 1201 1254 4.7e-19 PFAM
ZnF_C2HC 1311 1327 3.83e-3 SMART
ZnF_C2HC 1359 1375 3.44e-4 SMART
low complexity region 1398 1412 N/A INTRINSIC
low complexity region 1418 1473 N/A INTRINSIC
low complexity region 1628 1639 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097925
AA Change: F542L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: F542L

DomainStartEndE-ValueType
low complexity region 260 275 N/A INTRINSIC
SCOP:d1f5aa2 363 569 2e-23 SMART
Pfam:PAP_assoc 648 701 8e-14 PFAM
low complexity region 743 758 N/A INTRINSIC
low complexity region 815 828 N/A INTRINSIC
ZnF_C2HC 931 947 7.79e-3 SMART
Pfam:NTP_transf_2 994 1082 6.3e-11 PFAM
Pfam:PAP_assoc 1201 1254 5.2e-19 PFAM
ZnF_C2HC 1311 1327 3.83e-3 SMART
ZnF_C2HC 1364 1380 3.44e-4 SMART
low complexity region 1403 1417 N/A INTRINSIC
low complexity region 1423 1478 N/A INTRINSIC
low complexity region 1632 1643 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000155068
AA Change: F503L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120172
Gene: ENSMUSG00000034610
AA Change: F503L

DomainStartEndE-ValueType
low complexity region 221 236 N/A INTRINSIC
SCOP:d1f5aa2 324 530 2e-23 SMART
Pfam:PAP_assoc 609 662 8.8e-15 PFAM
low complexity region 704 719 N/A INTRINSIC
low complexity region 776 789 N/A INTRINSIC
ZnF_C2HC 892 908 7.79e-3 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZCCHC11 is an RNA uridyltransferase (EC 2.7.7.52) that uses UTP to add uridines to the 3-prime end of substrate RNA molecules (Jones et al., 2009 [PubMed 19701194]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit partial postnatal lethality associated with postnatal growth retardation and reduced circulating insulin-like growth factor I levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T C 5: 144,982,351 (GRCm39) V312A probably damaging Het
2810408A11Rik A G 11: 69,791,453 (GRCm39) V42A probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Angpt1 T A 15: 42,387,012 (GRCm39) Q114L probably damaging Het
Apc2 T C 10: 80,144,964 (GRCm39) I625T probably damaging Het
Atg2a T C 19: 6,300,628 (GRCm39) V735A probably benign Het
Birc6 T A 17: 74,947,008 (GRCm39) I2909N probably damaging Het
C7 C G 15: 5,041,557 (GRCm39) D450H probably damaging Het
Cachd1 C T 4: 100,821,632 (GRCm39) T403I probably damaging Het
Cachd1 T A 4: 100,824,240 (GRCm39) F560L probably benign Het
Cacna2d2 A T 9: 107,403,350 (GRCm39) Y944F probably benign Het
Cdkal1 C T 13: 30,034,031 (GRCm39) D21N probably damaging Het
Col18a1 T C 10: 76,895,815 (GRCm39) R901G probably damaging Het
Col27a1 C T 4: 63,143,950 (GRCm39) P546L probably damaging Het
Cps1 C T 1: 67,210,041 (GRCm39) R624W possibly damaging Het
Cyp11a1 A T 9: 57,925,643 (GRCm39) I93F probably benign Het
Cyp2c40 G C 19: 39,775,250 (GRCm39) T334R probably damaging Het
Cyp4f37 A G 17: 32,848,864 (GRCm39) D244G possibly damaging Het
D630003M21Rik A T 2: 158,062,390 (GRCm39) D43E probably damaging Het
Ep400 C A 5: 110,833,357 (GRCm39) C1955F unknown Het
Ethe1 G A 7: 24,293,371 (GRCm39) V6I probably benign Het
F5 C A 1: 164,020,104 (GRCm39) Q860K probably benign Het
Fasn T C 11: 120,707,997 (GRCm39) Y685C probably damaging Het
Gga2 T G 7: 121,611,444 (GRCm39) D38A probably damaging Het
Gm43302 T A 5: 105,423,660 (GRCm39) I438F probably benign Het
Grm1 T A 10: 10,955,610 (GRCm39) T225S possibly damaging Het
Hic2 G T 16: 17,076,511 (GRCm39) V447L probably damaging Het
Hsf2 G A 10: 57,388,242 (GRCm39) C462Y probably damaging Het
Ice1 T C 13: 70,752,672 (GRCm39) D1138G probably damaging Het
Il6 A G 5: 30,224,433 (GRCm39) T158A probably benign Het
Inpp5d T A 1: 87,595,611 (GRCm39) V120E probably benign Het
Iqca1 T C 1: 90,008,625 (GRCm39) N456S probably benign Het
Itgal T A 7: 126,908,794 (GRCm39) probably null Het
Lrrc66 G C 5: 73,768,198 (GRCm39) Q248E probably benign Het
Lrrc7 T A 3: 157,865,929 (GRCm39) M1271L possibly damaging Het
Lrrc74a T C 12: 86,795,827 (GRCm39) S267P probably damaging Het
Map2 T C 1: 66,453,233 (GRCm39) S550P probably damaging Het
Mapk8ip3 A T 17: 25,143,119 (GRCm39) probably null Het
Mdm4 A C 1: 132,924,384 (GRCm39) S246A probably damaging Het
Med23 A G 10: 24,779,584 (GRCm39) E887G probably damaging Het
Mta1 C T 12: 113,091,659 (GRCm39) A254V probably damaging Het
Myh2 A G 11: 67,064,300 (GRCm39) Y85C possibly damaging Het
Myo1g A G 11: 6,465,988 (GRCm39) Y366H probably damaging Het
Nalcn G A 14: 123,515,678 (GRCm39) P1708S probably benign Het
Nlrp9c A T 7: 26,093,543 (GRCm39) S41T probably benign Het
Nptx2 T A 5: 144,490,248 (GRCm39) S226T possibly damaging Het
Nup85 T A 11: 115,473,771 (GRCm39) S562T probably benign Het
Nxpe5 T C 5: 138,237,797 (GRCm39) V107A probably benign Het
Obi1 A G 14: 104,717,098 (GRCm39) V425A possibly damaging Het
Oga T C 19: 45,765,423 (GRCm39) E128G probably benign Het
Or10ac1 A T 6: 42,515,453 (GRCm39) F168I probably damaging Het
Or10al7 A G 17: 38,366,328 (GRCm39) V43A probably benign Het
Or13c3 T A 4: 52,855,674 (GRCm39) I280F probably benign Het
Or6p1 A G 1: 174,258,905 (GRCm39) T304A probably benign Het
Pcdhb12 C T 18: 37,569,495 (GRCm39) P214S possibly damaging Het
Pcdhb5 T A 18: 37,455,725 (GRCm39) F702I probably damaging Het
Pcnx1 T C 12: 82,022,094 (GRCm39) F1475S probably damaging Het
Pde5a C A 3: 122,523,013 (GRCm39) T40N probably benign Het
Pnpla2 T A 7: 141,039,481 (GRCm39) V398E probably damaging Het
Pramel19 G A 4: 101,797,655 (GRCm39) V18M probably benign Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rab20 T C 8: 11,504,223 (GRCm39) K159R probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rgs12 T A 5: 35,123,747 (GRCm39) V510D probably benign Het
Slamf6 T C 1: 171,770,154 (GRCm39) probably benign Het
Slc27a5 A T 7: 12,731,534 (GRCm39) C23* probably null Het
Slc35e2 T C 4: 155,694,621 (GRCm39) V56A possibly damaging Het
Slx4ip T C 2: 136,909,643 (GRCm39) S143P probably damaging Het
Stat5a C T 11: 100,770,112 (GRCm39) S463F probably damaging Het
Svep1 T C 4: 58,146,562 (GRCm39) D360G possibly damaging Het
Tas2r143 A T 6: 42,377,305 (GRCm39) D45V probably damaging Het
Tdrd5 G T 1: 156,105,079 (GRCm39) R516S probably damaging Het
Thy1 A G 9: 43,958,636 (GRCm39) D126G probably benign Het
Tspear C T 10: 77,709,019 (GRCm39) T415I probably benign Het
Ttll5 C A 12: 85,980,176 (GRCm39) T920K probably benign Het
Umod T C 7: 119,076,574 (GRCm39) E64G possibly damaging Het
Usf3 A G 16: 44,036,033 (GRCm39) N171S probably damaging Het
Vmn1r23 T A 6: 57,903,675 (GRCm39) R34S probably damaging Het
Wasf1 C G 10: 40,810,475 (GRCm39) P239R possibly damaging Het
Wdr95 C T 5: 149,487,857 (GRCm39) R164* probably null Het
Zan C A 5: 137,418,251 (GRCm39) C2949F unknown Het
Zbed4 T C 15: 88,665,080 (GRCm39) S383P probably benign Het
Zfand5 T A 19: 21,253,895 (GRCm39) C33S probably damaging Het
Zfp12 A G 5: 143,230,984 (GRCm39) Y437C probably damaging Het
Zfp451 A C 1: 33,852,849 (GRCm39) S22A probably benign Het
Other mutations in Tut4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Tut4 APN 4 108,407,925 (GRCm39) missense probably damaging 1.00
IGL00684:Tut4 APN 4 108,336,663 (GRCm39) missense possibly damaging 0.80
IGL01598:Tut4 APN 4 108,408,017 (GRCm39) unclassified probably benign
IGL01599:Tut4 APN 4 108,370,596 (GRCm39) missense possibly damaging 0.85
IGL02088:Tut4 APN 4 108,369,415 (GRCm39) splice site probably benign
IGL02451:Tut4 APN 4 108,386,473 (GRCm39) nonsense probably null
IGL02667:Tut4 APN 4 108,415,905 (GRCm39) splice site probably benign
IGL03080:Tut4 APN 4 108,363,021 (GRCm39) missense probably damaging 1.00
IGL03374:Tut4 APN 4 108,415,974 (GRCm39) missense probably damaging 1.00
Flatter UTSW 4 108,399,908 (GRCm39) critical splice donor site probably null
Ingratiate UTSW 4 108,369,392 (GRCm39) missense probably damaging 1.00
oedipus UTSW 4 108,406,552 (GRCm39) missense probably damaging 1.00
Please UTSW 4 108,370,083 (GRCm39) nonsense probably null
H8786:Tut4 UTSW 4 108,408,012 (GRCm39) critical splice donor site probably null
IGL02799:Tut4 UTSW 4 108,370,725 (GRCm39) missense probably benign
R0013:Tut4 UTSW 4 108,388,152 (GRCm39) splice site probably benign
R0013:Tut4 UTSW 4 108,388,152 (GRCm39) splice site probably benign
R0051:Tut4 UTSW 4 108,384,201 (GRCm39) missense probably damaging 1.00
R0051:Tut4 UTSW 4 108,384,201 (GRCm39) missense probably damaging 1.00
R0410:Tut4 UTSW 4 108,343,752 (GRCm39) missense probably benign 0.27
R0698:Tut4 UTSW 4 108,412,730 (GRCm39) missense probably benign 0.22
R0745:Tut4 UTSW 4 108,360,152 (GRCm39) splice site probably benign
R1080:Tut4 UTSW 4 108,336,696 (GRCm39) missense possibly damaging 0.82
R1809:Tut4 UTSW 4 108,406,552 (GRCm39) missense probably damaging 1.00
R1869:Tut4 UTSW 4 108,386,497 (GRCm39) missense probably damaging 1.00
R1874:Tut4 UTSW 4 108,407,922 (GRCm39) missense probably damaging 1.00
R1958:Tut4 UTSW 4 108,412,903 (GRCm39) missense probably damaging 1.00
R1976:Tut4 UTSW 4 108,336,720 (GRCm39) missense probably benign 0.01
R2034:Tut4 UTSW 4 108,369,392 (GRCm39) missense probably damaging 1.00
R2164:Tut4 UTSW 4 108,360,226 (GRCm39) missense possibly damaging 0.73
R2251:Tut4 UTSW 4 108,377,405 (GRCm39) missense probably damaging 1.00
R3001:Tut4 UTSW 4 108,370,125 (GRCm39) missense probably damaging 1.00
R3002:Tut4 UTSW 4 108,370,125 (GRCm39) missense probably damaging 1.00
R3003:Tut4 UTSW 4 108,370,125 (GRCm39) missense probably damaging 1.00
R4170:Tut4 UTSW 4 108,405,256 (GRCm39) missense probably damaging 1.00
R4667:Tut4 UTSW 4 108,352,356 (GRCm39) missense probably damaging 1.00
R4868:Tut4 UTSW 4 108,406,417 (GRCm39) splice site probably benign
R4989:Tut4 UTSW 4 108,384,042 (GRCm39) unclassified probably benign
R5014:Tut4 UTSW 4 108,384,043 (GRCm39) unclassified probably benign
R5118:Tut4 UTSW 4 108,377,489 (GRCm39) missense possibly damaging 0.92
R5431:Tut4 UTSW 4 108,348,609 (GRCm39) missense probably damaging 1.00
R5645:Tut4 UTSW 4 108,414,570 (GRCm39) missense probably damaging 1.00
R5661:Tut4 UTSW 4 108,370,384 (GRCm39) missense probably benign 0.05
R5877:Tut4 UTSW 4 108,370,120 (GRCm39) missense probably damaging 0.99
R6307:Tut4 UTSW 4 108,412,817 (GRCm39) missense probably damaging 1.00
R6326:Tut4 UTSW 4 108,336,177 (GRCm39) missense probably benign 0.02
R6407:Tut4 UTSW 4 108,415,979 (GRCm39) missense probably damaging 1.00
R6493:Tut4 UTSW 4 108,384,002 (GRCm39) missense probably damaging 1.00
R6587:Tut4 UTSW 4 108,336,646 (GRCm39) missense probably benign
R7215:Tut4 UTSW 4 108,384,205 (GRCm39) missense probably damaging 1.00
R7413:Tut4 UTSW 4 108,406,533 (GRCm39) missense possibly damaging 0.69
R7584:Tut4 UTSW 4 108,336,543 (GRCm39) missense probably benign 0.00
R7872:Tut4 UTSW 4 108,374,715 (GRCm39) missense probably damaging 1.00
R7970:Tut4 UTSW 4 108,343,651 (GRCm39) missense probably benign 0.00
R8214:Tut4 UTSW 4 108,369,347 (GRCm39) missense probably benign 0.00
R8297:Tut4 UTSW 4 108,336,905 (GRCm39) missense possibly damaging 0.86
R8504:Tut4 UTSW 4 108,388,139 (GRCm39) missense probably damaging 1.00
R8514:Tut4 UTSW 4 108,414,554 (GRCm39) missense possibly damaging 0.65
R8557:Tut4 UTSW 4 108,399,908 (GRCm39) critical splice donor site probably null
R8750:Tut4 UTSW 4 108,407,940 (GRCm39) missense probably damaging 1.00
R8805:Tut4 UTSW 4 108,406,575 (GRCm39) missense possibly damaging 0.83
R8903:Tut4 UTSW 4 108,336,408 (GRCm39) missense probably damaging 1.00
R9003:Tut4 UTSW 4 108,400,029 (GRCm39) missense probably damaging 0.98
R9218:Tut4 UTSW 4 108,370,083 (GRCm39) nonsense probably null
R9412:Tut4 UTSW 4 108,414,561 (GRCm39) missense
R9546:Tut4 UTSW 4 108,370,429 (GRCm39) missense probably benign 0.05
R9547:Tut4 UTSW 4 108,370,429 (GRCm39) missense probably benign 0.05
R9721:Tut4 UTSW 4 108,412,778 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- AGAATTGAGCCCGGCCAATACC -3'
(R):5'- GTCATCCATTCTTTTCGGGTCAAAGC -3'

Sequencing Primer
(F):5'- catgtaagacaagtgtggcaag -3'
(R):5'- TCGGGTCAAAGCCTTCAATC -3'
Posted On 2014-05-23