Incidental Mutation 'R5431:Tut4'
ID 428039
Institutional Source Beutler Lab
Gene Symbol Tut4
Ensembl Gene ENSMUSG00000034610
Gene Name terminal uridylyl transferase 4
Synonyms 9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11
MMRRC Submission 042847-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5431 (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 A at 108348609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 297 (I297N)
Ref Sequence ENSEMBL: ENSMUSP00000120172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043368] [ENSMUST00000097925] [ENSMUST00000155068]
AlphaFold B2RX14
Predicted Effect probably damaging
Transcript: ENSMUST00000043368
AA Change: I336N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: I336N

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: I336N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: I336N

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 damaging
Transcript: ENSMUST00000155068
AA Change: I297N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120172
Gene: ENSMUSG00000034610
AA Change: I297N

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,426 (GRCm39) S124G possibly damaging Het
4921539E11Rik T C 4: 103,128,045 (GRCm39) T27A probably benign Het
Aspg T A 12: 112,089,846 (GRCm39) N461K probably benign Het
B4galnt3 T A 6: 120,195,928 (GRCm39) T300S probably damaging Het
BC035044 A G 6: 128,861,970 (GRCm39) probably benign Het
Bmp5 C T 9: 75,800,991 (GRCm39) P374S probably damaging Het
C330018D20Rik A T 18: 57,090,928 (GRCm39) F78L probably benign Het
Cds2 T A 2: 132,144,090 (GRCm39) S289T probably benign Het
Cerkl C T 2: 79,171,679 (GRCm39) C393Y probably damaging Het
Cibar2 C A 8: 120,894,042 (GRCm39) probably null Het
Ciita C T 16: 10,341,656 (GRCm39) R1020C probably damaging Het
Dcaf13 C A 15: 38,986,619 (GRCm39) D130E probably benign Het
Dnal4 C T 15: 79,646,648 (GRCm39) G50R probably damaging Het
Elfn1 A G 5: 139,957,323 (GRCm39) N109S probably damaging Het
Ep400 A G 5: 110,824,420 (GRCm39) V2435A unknown Het
Fam178b T C 1: 36,671,566 (GRCm39) E185G probably damaging Het
Fam227b C A 2: 125,968,851 (GRCm39) L74F probably benign Het
Fgfr4 G A 13: 55,304,464 (GRCm39) V138I probably benign Het
Flnc A G 6: 29,456,383 (GRCm39) I2161V possibly damaging Het
Frmd5 T C 2: 121,393,390 (GRCm39) N235S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ggt6 A G 11: 72,328,564 (GRCm39) T355A possibly damaging Het
Gm14393 G A 2: 174,905,669 (GRCm39) T41I probably damaging Het
Gpr151 A C 18: 42,711,932 (GRCm39) S249A probably damaging Het
Gpr152 T A 19: 4,193,746 (GRCm39) V429D probably benign Het
Grm7 G A 6: 111,335,387 (GRCm39) M599I probably benign Het
Hdac4 T A 1: 91,900,512 (GRCm39) R54* probably null Het
Ice1 A G 13: 70,740,769 (GRCm39) L2146S probably damaging Het
Igfbpl1 C T 4: 45,815,588 (GRCm39) V183I probably benign Het
Kel G A 6: 41,675,354 (GRCm39) S299F probably benign Het
Kif14 T C 1: 136,424,433 (GRCm39) I1016T possibly damaging Het
Lhx3 T C 2: 26,091,130 (GRCm39) D395G probably damaging Het
Micu1 T C 10: 59,586,343 (GRCm39) Y140H possibly damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nbn C T 4: 15,986,593 (GRCm39) H665Y probably benign Het
Pkhd1 G T 1: 20,188,060 (GRCm39) T3416K probably benign Het
Plxnb1 T C 9: 108,929,840 (GRCm39) F232S probably damaging Het
Pus7l T C 15: 94,427,367 (GRCm39) N472D probably damaging Het
Rfx1 C T 8: 84,809,349 (GRCm39) Q225* probably null Het
Rnase2a T C 14: 51,493,020 (GRCm39) Y115C possibly damaging Het
Ryr1 T A 7: 28,809,237 (GRCm39) D386V probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sgcz T A 8: 38,107,138 (GRCm39) T125S probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Syt2 A G 1: 134,668,695 (GRCm39) S36G probably benign Het
Tcaf3 A G 6: 42,574,119 (GRCm39) L31P probably damaging Het
Tenm3 C A 8: 48,820,412 (GRCm39) E142* probably null Het
Tgfbr2 G T 9: 115,960,669 (GRCm39) S94R probably damaging Het
Vmn2r12 A G 5: 109,239,684 (GRCm39) I293T probably damaging Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zc3h14 A G 12: 98,746,324 (GRCm39) D511G possibly damaging 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
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'- ACATCAGTGTTCTTGCAGTGC -3'
(R):5'- GCATGATTAAACTGGTACCTAGAAG -3'

Sequencing Primer
(F):5'- GGTGTCTAACCTGAAGTCCTAGCAC -3'
(R):5'- GAAGGTTCCTTCTAATCACAGGAG -3'
Posted On 2016-09-01