Incidental Mutation 'R2164:Tut4'
ID 235336
Institutional Source Beutler Lab
Gene Symbol Tut4
Ensembl Gene ENSMUSG00000034610
Gene Name terminal uridylyl transferase 4
Synonyms 9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11
MMRRC Submission 040167-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2164 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 108459426-108559421 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 108503029 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 481 (R481Q)
Ref Sequence ENSEMBL: ENSMUSP00000095538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043368] [ENSMUST00000097925] [ENSMUST00000155068]
AlphaFold B2RX14
Predicted Effect possibly damaging
Transcript: ENSMUST00000043368
AA Change: R481Q

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: R481Q

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 noncoding transcript
Transcript: ENSMUST00000083365
Predicted Effect possibly damaging
Transcript: ENSMUST00000097925
AA Change: R481Q

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: R481Q

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 probably benign
Transcript: ENSMUST00000155068
AA Change: R442Q

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120172
Gene: ENSMUSG00000034610
AA Change: R442Q

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 CTGTAGGAAATCTTCAATGT CTGT 11: 110,210,193 (GRCm38) probably null Het
Adcy8 C T 15: 64,920,934 (GRCm38) G58S probably benign Het
Adgra2 T A 8: 27,114,204 (GRCm38) L24* probably null Het
Ampd2 C A 3: 108,085,369 (GRCm38) probably benign Het
Ankrd26 T G 6: 118,525,791 (GRCm38) E806A probably damaging Het
Apol9b A G 15: 77,735,439 (GRCm38) D145G probably benign Het
Ash1l T A 3: 88,985,419 (GRCm38) M1535K probably benign Het
Atf6 A G 1: 170,794,735 (GRCm38) M439T probably damaging Het
B3glct A T 5: 149,754,156 (GRCm38) M417L probably damaging Het
Cep192 A T 18: 67,820,360 (GRCm38) T483S probably damaging Het
Cep290 G A 10: 100,518,795 (GRCm38) E914K probably damaging Het
Chst15 C T 7: 132,270,385 (GRCm38) A56T probably damaging Het
Col27a1 A T 4: 63,225,424 (GRCm38) T450S probably benign Het
Cpsf2 A G 12: 101,985,335 (GRCm38) N177S probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,741,236 (GRCm38) probably null Het
Ctc1 C T 11: 69,035,615 (GRCm38) A859V possibly damaging Het
Dcakd A G 11: 102,997,357 (GRCm38) Y134H possibly damaging Het
Dctn3 G T 4: 41,723,065 (GRCm38) Y22* probably null Het
Dync2h1 T A 9: 7,124,797 (GRCm38) D2025V probably damaging Het
Dync2li1 T C 17: 84,636,274 (GRCm38) S92P probably damaging Het
Eml5 A G 12: 98,887,097 (GRCm38) V81A probably damaging Het
Espl1 C T 15: 102,319,588 (GRCm38) R1625C probably damaging Het
Fam181a T C 12: 103,316,526 (GRCm38) V230A probably benign Het
Fanci T A 7: 79,395,995 (GRCm38) D28E probably benign Het
Fmn1 A G 2: 113,365,617 (GRCm38) N554S unknown Het
Frem2 T C 3: 53,537,330 (GRCm38) Y2460C probably damaging Het
Fscb G A 12: 64,473,793 (GRCm38) P300S probably damaging Het
Gm28042 A G 2: 120,036,748 (GRCm38) D438G probably benign Het
Ldaf1 A G 7: 120,120,239 (GRCm38) E157G possibly damaging Het
Map1b C T 13: 99,429,338 (GRCm38) V2292M unknown Het
Nbas A G 12: 13,330,646 (GRCm38) D635G possibly damaging Het
Ncapg2 A G 12: 116,450,475 (GRCm38) probably null Het
Nrp2 A T 1: 62,744,355 (GRCm38) E205V probably damaging Het
Pcdhb3 A T 18: 37,302,186 (GRCm38) T402S possibly damaging Het
Phc1 T C 6: 122,322,337 (GRCm38) N638D possibly damaging Het
Plcb1 A G 2: 135,346,330 (GRCm38) N781S possibly damaging Het
Prkdc T A 16: 15,705,207 (GRCm38) D1164E probably damaging Het
Proser2 T A 2: 6,100,695 (GRCm38) R353W possibly damaging Het
Prxl2b T G 4: 154,898,149 (GRCm38) Y56S probably damaging Het
Ptges T A 2: 30,892,696 (GRCm38) T115S probably benign Het
Ptprk A T 10: 28,560,142 (GRCm38) D833V probably damaging Het
Pum1 G T 4: 130,728,084 (GRCm38) L269F probably damaging Het
Pum1 T A 4: 130,728,083 (GRCm38) L173* probably null Het
Rasgrp4 A G 7: 29,139,045 (GRCm38) Y106C probably damaging Het
Rbbp6 T A 7: 122,999,474 (GRCm38) probably benign Het
Rdh1 A G 10: 127,760,172 (GRCm38) T79A possibly damaging Het
Relb A C 7: 19,613,761 (GRCm38) probably null Het
Rnf122 G A 8: 31,112,164 (GRCm38) W6* probably null Het
Rnf31 A G 14: 55,592,537 (GRCm38) E138G possibly damaging Het
Scaf8 G A 17: 3,197,210 (GRCm38) R936Q probably damaging Het
Scube3 T A 17: 28,166,134 (GRCm38) V686D possibly damaging Het
Snrnp27 A T 6: 86,676,214 (GRCm38) C141S probably benign Het
Spns2 C T 11: 72,458,671 (GRCm38) V252M possibly damaging Het
Tomm40l C T 1: 171,220,134 (GRCm38) S220N probably damaging Het
Trim17 A G 11: 58,971,411 (GRCm38) D423G probably damaging Het
Trpc6 A AT 9: 8,610,465 (GRCm38) probably null Het
Uba5 A T 9: 104,060,243 (GRCm38) M89K probably damaging Het
Vav2 T C 2: 27,273,706 (GRCm38) D628G probably damaging Het
Vmn2r107 T C 17: 20,375,642 (GRCm38) L819P probably damaging Het
Vmn2r25 A T 6: 123,839,559 (GRCm38) D354E possibly damaging Het
Xrn1 A G 9: 96,006,820 (GRCm38) E984G possibly damaging Het
Zbtb17 T C 4: 141,464,246 (GRCm38) V223A probably benign Het
Zfp592 T C 7: 81,041,438 (GRCm38) S1122P possibly damaging Het
Other mutations in Tut4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Tut4 APN 4 108,550,728 (GRCm38) missense probably damaging 1.00
IGL00684:Tut4 APN 4 108,479,466 (GRCm38) missense possibly damaging 0.80
IGL01598:Tut4 APN 4 108,550,820 (GRCm38) unclassified probably benign
IGL01599:Tut4 APN 4 108,513,399 (GRCm38) missense possibly damaging 0.85
IGL02088:Tut4 APN 4 108,512,218 (GRCm38) splice site probably benign
IGL02451:Tut4 APN 4 108,529,276 (GRCm38) nonsense probably null
IGL02667:Tut4 APN 4 108,558,708 (GRCm38) splice site probably benign
IGL03080:Tut4 APN 4 108,505,824 (GRCm38) missense probably damaging 1.00
IGL03374:Tut4 APN 4 108,558,777 (GRCm38) missense probably damaging 1.00
Flatter UTSW 4 108,542,711 (GRCm38) critical splice donor site probably null
Ingratiate UTSW 4 108,512,195 (GRCm38) missense probably damaging 1.00
oedipus UTSW 4 108,549,355 (GRCm38) missense probably damaging 1.00
Please UTSW 4 108,512,886 (GRCm38) nonsense probably null
H8786:Tut4 UTSW 4 108,550,815 (GRCm38) critical splice donor site probably null
IGL02799:Tut4 UTSW 4 108,513,528 (GRCm38) missense probably benign
R0013:Tut4 UTSW 4 108,530,955 (GRCm38) splice site probably benign
R0013:Tut4 UTSW 4 108,530,955 (GRCm38) splice site probably benign
R0051:Tut4 UTSW 4 108,527,004 (GRCm38) missense probably damaging 1.00
R0051:Tut4 UTSW 4 108,527,004 (GRCm38) missense probably damaging 1.00
R0410:Tut4 UTSW 4 108,486,555 (GRCm38) missense probably benign 0.27
R0698:Tut4 UTSW 4 108,555,533 (GRCm38) missense probably benign 0.22
R0745:Tut4 UTSW 4 108,502,955 (GRCm38) splice site probably benign
R1080:Tut4 UTSW 4 108,479,499 (GRCm38) missense possibly damaging 0.82
R1774:Tut4 UTSW 4 108,507,955 (GRCm38) missense probably damaging 1.00
R1809:Tut4 UTSW 4 108,549,355 (GRCm38) missense probably damaging 1.00
R1869:Tut4 UTSW 4 108,529,300 (GRCm38) missense probably damaging 1.00
R1874:Tut4 UTSW 4 108,550,725 (GRCm38) missense probably damaging 1.00
R1958:Tut4 UTSW 4 108,555,706 (GRCm38) missense probably damaging 1.00
R1976:Tut4 UTSW 4 108,479,523 (GRCm38) missense probably benign 0.01
R2034:Tut4 UTSW 4 108,512,195 (GRCm38) missense probably damaging 1.00
R2251:Tut4 UTSW 4 108,520,208 (GRCm38) missense probably damaging 1.00
R3001:Tut4 UTSW 4 108,512,928 (GRCm38) missense probably damaging 1.00
R3002:Tut4 UTSW 4 108,512,928 (GRCm38) missense probably damaging 1.00
R3003:Tut4 UTSW 4 108,512,928 (GRCm38) missense probably damaging 1.00
R4170:Tut4 UTSW 4 108,548,059 (GRCm38) missense probably damaging 1.00
R4667:Tut4 UTSW 4 108,495,159 (GRCm38) missense probably damaging 1.00
R4868:Tut4 UTSW 4 108,549,220 (GRCm38) splice site probably benign
R4989:Tut4 UTSW 4 108,526,845 (GRCm38) unclassified probably benign
R5014:Tut4 UTSW 4 108,526,846 (GRCm38) unclassified probably benign
R5118:Tut4 UTSW 4 108,520,292 (GRCm38) missense possibly damaging 0.92
R5431:Tut4 UTSW 4 108,491,412 (GRCm38) missense probably damaging 1.00
R5645:Tut4 UTSW 4 108,557,373 (GRCm38) missense probably damaging 1.00
R5661:Tut4 UTSW 4 108,513,187 (GRCm38) missense probably benign 0.05
R5877:Tut4 UTSW 4 108,512,923 (GRCm38) missense probably damaging 0.99
R6307:Tut4 UTSW 4 108,555,620 (GRCm38) missense probably damaging 1.00
R6326:Tut4 UTSW 4 108,478,980 (GRCm38) missense probably benign 0.02
R6407:Tut4 UTSW 4 108,558,782 (GRCm38) missense probably damaging 1.00
R6493:Tut4 UTSW 4 108,526,805 (GRCm38) missense probably damaging 1.00
R6587:Tut4 UTSW 4 108,479,449 (GRCm38) missense probably benign
R7215:Tut4 UTSW 4 108,527,008 (GRCm38) missense probably damaging 1.00
R7413:Tut4 UTSW 4 108,549,336 (GRCm38) missense possibly damaging 0.69
R7584:Tut4 UTSW 4 108,479,346 (GRCm38) missense probably benign 0.00
R7872:Tut4 UTSW 4 108,517,518 (GRCm38) missense probably damaging 1.00
R7970:Tut4 UTSW 4 108,486,454 (GRCm38) missense probably benign 0.00
R8214:Tut4 UTSW 4 108,512,150 (GRCm38) missense probably benign 0.00
R8297:Tut4 UTSW 4 108,479,708 (GRCm38) missense possibly damaging 0.86
R8504:Tut4 UTSW 4 108,530,942 (GRCm38) missense probably damaging 1.00
R8514:Tut4 UTSW 4 108,557,357 (GRCm38) missense possibly damaging 0.65
R8557:Tut4 UTSW 4 108,542,711 (GRCm38) critical splice donor site probably null
R8750:Tut4 UTSW 4 108,550,743 (GRCm38) missense probably damaging 1.00
R8805:Tut4 UTSW 4 108,549,378 (GRCm38) missense possibly damaging 0.83
R8903:Tut4 UTSW 4 108,479,211 (GRCm38) missense probably damaging 1.00
R9003:Tut4 UTSW 4 108,542,832 (GRCm38) missense probably damaging 0.98
R9218:Tut4 UTSW 4 108,512,886 (GRCm38) nonsense probably null
R9412:Tut4 UTSW 4 108,557,364 (GRCm38) missense
R9546:Tut4 UTSW 4 108,513,232 (GRCm38) missense probably benign 0.05
R9547:Tut4 UTSW 4 108,513,232 (GRCm38) missense probably benign 0.05
R9721:Tut4 UTSW 4 108,555,581 (GRCm38) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- GGCATATAACAAATGACTCCAGG -3'
(R):5'- TTCACAAACATGGACAGATACAGTC -3'

Sequencing Primer
(F):5'- CCAGGAGAGGTAAGAGATTCTTTTG -3'
(R):5'- CAACATTTTAGATAAGCTGGCTGCCC -3'
Posted On 2014-10-01