Incidental Mutation 'R6493:Tut4'
ID 522825
Institutional Source Beutler Lab
Gene Symbol Tut4
Ensembl Gene ENSMUSG00000034610
Gene Name terminal uridylyl transferase 4
Synonyms 9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11
MMRRC Submission 044625-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6493 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 108316623-108416618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108384002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 1053 (K1053R)
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: K1053R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: K1053R

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: K1053R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: K1053R

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 noncoding transcript
Transcript: ENSMUST00000138809
Predicted Effect probably benign
Transcript: ENSMUST00000155068
SMART Domains Protein: ENSMUSP00000120172
Gene: ENSMUSG00000034610

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157089
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.3%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,184,704 (GRCm39) H934L probably benign Het
Abcb1b G A 5: 8,874,698 (GRCm39) D453N probably damaging Het
Ampd3 A G 7: 110,395,018 (GRCm39) probably null Het
Axdnd1 A T 1: 156,208,383 (GRCm39) I485N probably damaging Het
Bscl2 A G 19: 8,817,138 (GRCm39) D22G probably damaging Het
Ccdc96 A G 5: 36,643,596 (GRCm39) E534G probably damaging Het
Cdc42bpg G T 19: 6,368,485 (GRCm39) G1061V probably damaging Het
Cers3 T C 7: 66,393,468 (GRCm39) Y26H probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Clca4a T A 3: 144,663,059 (GRCm39) T597S probably benign Het
Daxx T A 17: 34,131,345 (GRCm39) probably null Het
Egf T C 3: 129,512,737 (GRCm39) probably benign Het
Eps15 A G 4: 109,226,145 (GRCm39) D629G probably damaging Het
Fancm G A 12: 65,144,262 (GRCm39) A575T probably benign Het
Fat4 G A 3: 38,945,036 (GRCm39) D1310N probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Grxcr2 G A 18: 42,131,766 (GRCm39) P101L possibly damaging Het
Hsd17b12 A T 2: 93,874,228 (GRCm39) I225N probably damaging Het
Kcnj8 T C 6: 142,511,773 (GRCm39) Y278C probably damaging Het
Lama3 G A 18: 12,615,205 (GRCm39) probably null Het
Lax1 C T 1: 133,607,530 (GRCm39) D404N probably benign Het
Lipg T C 18: 75,081,095 (GRCm39) K329E probably damaging Het
Lysmd2 T G 9: 75,542,984 (GRCm39) L197R probably damaging Het
Maneal A T 4: 124,750,964 (GRCm39) I264N probably damaging Het
Myh4 A G 11: 67,149,455 (GRCm39) N1729S probably benign Het
Myl2 A G 5: 122,244,791 (GRCm39) N154D possibly damaging Het
Nlrp9c T A 7: 26,081,812 (GRCm39) D638V probably damaging Het
Notch1 T C 2: 26,362,110 (GRCm39) H74R unknown Het
Olfml3 A T 3: 103,643,523 (GRCm39) V286D possibly damaging Het
Or14c46 T G 7: 85,918,090 (GRCm39) K302N probably benign Het
Or4b12 G A 2: 90,096,052 (GRCm39) H241Y probably damaging Het
Or51a25 G T 7: 102,373,287 (GRCm39) R137S possibly damaging Het
Or51f23c-ps1 A G 7: 102,431,603 (GRCm39) K307E probably benign Het
Or8k41 T C 2: 86,313,565 (GRCm39) I174V possibly damaging Het
Parn A C 16: 13,474,789 (GRCm39) F127V probably damaging Het
Pcdhac2 T C 18: 37,277,758 (GRCm39) V246A probably damaging Het
Plin2 G A 4: 86,580,224 (GRCm39) T90I possibly damaging Het
Podxl C T 6: 31,501,981 (GRCm39) C326Y probably damaging Het
Pramel46 A G 5: 95,418,684 (GRCm39) L104P probably damaging Het
Prl8a8 T A 13: 27,691,335 (GRCm39) K223* probably null Het
Ptprh T G 7: 4,583,989 (GRCm39) E201A possibly damaging Het
Rtn1 A C 12: 72,355,103 (GRCm39) V281G probably damaging Het
Scaf8 T C 17: 3,221,394 (GRCm39) S294P unknown Het
Shroom3 C A 5: 93,089,420 (GRCm39) N723K probably benign Het
Spata22 T C 11: 73,244,572 (GRCm39) *312R probably null Het
Stx7 T C 10: 24,060,969 (GRCm39) probably null Het
Taar6 T C 10: 23,861,021 (GRCm39) D175G probably benign Het
Tbccd1 A C 16: 22,641,216 (GRCm39) L387R probably damaging Het
Tecpr1 T C 5: 144,146,792 (GRCm39) M525V probably benign Het
Tex10 A T 4: 48,436,450 (GRCm39) I756N probably damaging Het
Tfap2d G C 1: 19,174,702 (GRCm39) G52R probably benign Het
Ttn T C 2: 76,572,341 (GRCm39) E24438G probably damaging Het
Wdpcp C T 11: 21,661,631 (GRCm39) T301I possibly damaging Het
Zbtb1 C T 12: 76,433,247 (GRCm39) T411I probably benign Het
Zzef1 G A 11: 72,804,129 (GRCm39) G2624R 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
R1774:Tut4 UTSW 4 108,365,152 (GRCm39) missense probably damaging 1.00
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
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'- TCTCTGTGAATAGCCTTGGATCG -3'
(R):5'- AACTGATATCACCTTCTAGTCCAC -3'

Sequencing Primer
(F):5'- GCAGGCTCCAAGTCTATGCTAATG -3'
(R):5'- GATATCACCTTCTAGTCCACTTCTC -3'
Posted On 2018-06-06