Incidental Mutation 'R6326:Tut4'
ID |
510395 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tut4
|
Ensembl Gene |
ENSMUSG00000034610 |
Gene Name |
terminal uridylyl transferase 4 |
Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
MMRRC Submission |
044480-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6326 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 108336177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 6
(T6I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102284
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
[ENSMUST00000106673]
[ENSMUST00000155068]
|
AlphaFold |
B2RX14 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043368
AA Change: T6I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000044836 Gene: ENSMUSG00000034610 AA Change: T6I
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 benign
Transcript: ENSMUST00000097925
AA Change: T6I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000095538 Gene: ENSMUSG00000034610 AA Change: T6I
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 |
probably benign
Transcript: ENSMUST00000106673
AA Change: T6I
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155068
|
SMART Domains |
Protein: ENSMUSP00000120172 Gene: ENSMUSG00000034610
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
A |
T |
7: 66,770,636 (GRCm39) |
Y915F |
probably benign |
Het |
Adap2 |
T |
A |
11: 80,045,848 (GRCm39) |
F43I |
probably damaging |
Het |
Adprs |
A |
T |
4: 126,210,406 (GRCm39) |
L358Q |
possibly damaging |
Het |
Akap9 |
A |
C |
5: 4,012,061 (GRCm39) |
Q921H |
probably damaging |
Het |
Amigo2 |
A |
G |
15: 97,143,256 (GRCm39) |
S389P |
probably benign |
Het |
Atg2b |
A |
T |
12: 105,627,351 (GRCm39) |
C545* |
probably null |
Het |
C2cd3 |
A |
G |
7: 100,065,635 (GRCm39) |
E807G |
probably benign |
Het |
Ccdc110 |
A |
G |
8: 46,395,078 (GRCm39) |
E323G |
probably damaging |
Het |
Cdk5rap2 |
T |
A |
4: 70,153,691 (GRCm39) |
S1711C |
probably damaging |
Het |
Cebpzos |
T |
G |
17: 79,226,486 (GRCm39) |
D39E |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,945,539 (GRCm39) |
N1018D |
probably benign |
Het |
Cfap68 |
T |
G |
9: 50,676,057 (GRCm39) |
N87T |
probably damaging |
Het |
Clspn |
C |
A |
4: 126,459,532 (GRCm39) |
H141Q |
probably damaging |
Het |
Cluh |
C |
T |
11: 74,557,068 (GRCm39) |
A1010V |
probably benign |
Het |
Col27a1 |
G |
T |
4: 63,242,678 (GRCm39) |
|
probably benign |
Het |
Cpt2 |
T |
C |
4: 107,771,513 (GRCm39) |
M61V |
probably benign |
Het |
Ddr2 |
T |
A |
1: 169,814,709 (GRCm39) |
H578L |
probably damaging |
Het |
Dnah14 |
T |
A |
1: 181,611,121 (GRCm39) |
I3749N |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,813,978 (GRCm39) |
T264A |
possibly damaging |
Het |
Ecpas |
T |
A |
4: 58,827,068 (GRCm39) |
T1022S |
probably benign |
Het |
Eml6 |
T |
C |
11: 29,769,066 (GRCm39) |
N693S |
probably damaging |
Het |
Ephx4 |
A |
G |
5: 107,553,977 (GRCm39) |
E9G |
probably damaging |
Het |
Eps15l1 |
G |
A |
8: 73,095,278 (GRCm39) |
Q747* |
probably null |
Het |
Flrt1 |
C |
T |
19: 7,073,974 (GRCm39) |
S191N |
probably damaging |
Het |
Gm5114 |
C |
T |
7: 39,057,579 (GRCm39) |
R680H |
probably benign |
Het |
Gm5431 |
T |
C |
11: 48,780,172 (GRCm39) |
H250R |
probably damaging |
Het |
Gm7233 |
T |
C |
14: 43,040,342 (GRCm39) |
C198R |
possibly damaging |
Het |
Herc2 |
C |
G |
7: 55,872,682 (GRCm39) |
Q4407E |
probably damaging |
Het |
Hmx3 |
C |
G |
7: 131,144,734 (GRCm39) |
|
probably benign |
Het |
Hoxb7 |
C |
A |
11: 96,177,909 (GRCm39) |
A119E |
probably benign |
Het |
Ifi207 |
A |
T |
1: 173,557,532 (GRCm39) |
M402K |
probably benign |
Het |
Ints14 |
T |
C |
9: 64,871,719 (GRCm39) |
V19A |
probably benign |
Het |
Itgae |
T |
A |
11: 73,022,519 (GRCm39) |
N911K |
possibly damaging |
Het |
Kif1a |
T |
C |
1: 93,004,048 (GRCm39) |
S145G |
probably damaging |
Het |
Klhdc4 |
A |
G |
8: 122,531,793 (GRCm39) |
W187R |
probably damaging |
Het |
Krt1 |
A |
T |
15: 101,758,684 (GRCm39) |
I160N |
probably damaging |
Het |
Krt12 |
T |
C |
11: 99,307,745 (GRCm39) |
T448A |
probably benign |
Het |
Lcmt2 |
G |
A |
2: 120,969,938 (GRCm39) |
R382* |
probably null |
Het |
Map3k8 |
C |
T |
18: 4,340,651 (GRCm39) |
S221N |
probably damaging |
Het |
Med17 |
T |
C |
9: 15,190,854 (GRCm39) |
D79G |
probably benign |
Het |
Mlf1 |
A |
T |
3: 67,307,060 (GRCm39) |
I257F |
probably damaging |
Het |
Mov10l1 |
T |
A |
15: 88,879,098 (GRCm39) |
F153I |
probably damaging |
Het |
Msto1 |
A |
C |
3: 88,819,405 (GRCm39) |
V149G |
probably damaging |
Het |
Mybl1 |
T |
C |
1: 9,748,732 (GRCm39) |
|
probably null |
Het |
Myoc |
A |
G |
1: 162,476,580 (GRCm39) |
Y428C |
probably damaging |
Het |
Nin |
A |
G |
12: 70,091,955 (GRCm39) |
S785P |
possibly damaging |
Het |
Oit3 |
A |
T |
10: 59,264,061 (GRCm39) |
F358I |
probably damaging |
Het |
Or5t15 |
C |
T |
2: 86,681,338 (GRCm39) |
V235I |
probably benign |
Het |
Or6c88 |
A |
G |
10: 129,406,571 (GRCm39) |
T16A |
possibly damaging |
Het |
Paip1 |
A |
G |
13: 119,566,753 (GRCm39) |
N29S |
probably benign |
Het |
Pcdhgb4 |
T |
C |
18: 37,855,509 (GRCm39) |
S635P |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,280,298 (GRCm39) |
N708D |
possibly damaging |
Het |
Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
Prag1 |
A |
T |
8: 36,569,860 (GRCm39) |
M148L |
possibly damaging |
Het |
Ptch1 |
A |
G |
13: 63,691,359 (GRCm39) |
L176P |
probably damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,793,931 (GRCm39) |
V568D |
probably damaging |
Het |
Rb1 |
A |
T |
14: 73,435,974 (GRCm39) |
M897K |
probably benign |
Het |
Resf1 |
T |
A |
6: 149,230,493 (GRCm39) |
Y1180N |
probably damaging |
Het |
Robo3 |
T |
A |
9: 37,338,323 (GRCm39) |
Q386L |
probably damaging |
Het |
Rtn4rl1 |
T |
C |
11: 75,156,828 (GRCm39) |
V420A |
possibly damaging |
Het |
Sall1 |
A |
T |
8: 89,756,896 (GRCm39) |
N1069K |
probably benign |
Het |
Sipa1l1 |
A |
G |
12: 82,419,242 (GRCm39) |
E640G |
probably damaging |
Het |
Slc22a2 |
C |
A |
17: 12,831,297 (GRCm39) |
Y362* |
probably null |
Het |
Slc5a9 |
T |
C |
4: 111,737,450 (GRCm39) |
E603G |
probably benign |
Het |
Slc6a17 |
A |
T |
3: 107,407,722 (GRCm39) |
I83N |
probably damaging |
Het |
Snx29 |
G |
T |
16: 11,221,430 (GRCm39) |
M285I |
probably benign |
Het |
Spata2 |
T |
C |
2: 167,326,094 (GRCm39) |
T242A |
possibly damaging |
Het |
Stard13 |
A |
G |
5: 150,970,384 (GRCm39) |
L733P |
possibly damaging |
Het |
Svep1 |
A |
G |
4: 58,073,045 (GRCm39) |
V2088A |
possibly damaging |
Het |
Tdp2 |
A |
G |
13: 25,024,540 (GRCm39) |
E279G |
probably damaging |
Het |
Tnfrsf8 |
T |
G |
4: 144,995,794 (GRCm39) |
I422L |
probably damaging |
Het |
Tpk1 |
T |
A |
6: 43,323,736 (GRCm39) |
T189S |
possibly damaging |
Het |
Trhde |
A |
T |
10: 114,403,129 (GRCm39) |
M498K |
probably damaging |
Het |
Trim35 |
T |
A |
14: 66,540,653 (GRCm39) |
H168Q |
possibly damaging |
Het |
Tubb5 |
T |
C |
17: 36,147,347 (GRCm39) |
|
probably benign |
Het |
Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
Vmn2r77 |
G |
A |
7: 86,451,031 (GRCm39) |
G306R |
probably benign |
Het |
Xkr4 |
C |
T |
1: 3,741,261 (GRCm39) |
R104H |
possibly damaging |
Het |
Zfp398 |
T |
C |
6: 47,843,355 (GRCm39) |
I337T |
possibly damaging |
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 |
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 |
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'- GCAATGATAGAGGCGTATTATTTCAGG -3'
(R):5'- ACACTGGCAGCGTTTACTTTAC -3'
Sequencing Primer
(F):5'- CCTTGAACTAGTTATGTAGACCAGGC -3'
(R):5'- GCAGCGTTTACTTTACATGATTTAGC -3'
|
Posted On |
2018-04-02 |