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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |