Incidental Mutation 'R3001:Tut4'
| ID |
257316 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut4
|
| Ensembl Gene |
ENSMUSG00000034610 |
| Gene Name |
terminal uridylyl transferase 4 |
| Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
| MMRRC Submission |
040530-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3001 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108370125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 714
(E714K)
|
| 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: E714K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: E714K
| 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: E714K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: E714K
| 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 |
noncoding transcript
Transcript: ENSMUST00000142835
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155068
AA Change: E675K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120172
Gene: ENSMUSG00000034610
AA Change: E675K
| 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 |
|
| Meta Mutation Damage Score |
0.4169 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (47/48) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810459M11Rik |
T |
C |
1: 85,973,802 (GRCm39) |
W40R |
possibly damaging |
Het |
| A2m |
A |
G |
6: 121,638,406 (GRCm39) |
S873G |
possibly damaging |
Het |
| Acd |
C |
T |
8: 106,426,913 (GRCm39) |
|
probably null |
Het |
| Acly |
T |
C |
11: 100,395,053 (GRCm39) |
K469E |
possibly damaging |
Het |
| Adcy6 |
T |
C |
15: 98,494,541 (GRCm39) |
T767A |
probably benign |
Het |
| Bnip3 |
T |
C |
7: 138,496,430 (GRCm39) |
I93V |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,052,517 (GRCm39) |
D269G |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,899,988 (GRCm39) |
D182G |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,331,329 (GRCm39) |
E178G |
probably damaging |
Het |
| Chrd |
T |
G |
16: 20,556,195 (GRCm39) |
Y585* |
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,246,184 (GRCm39) |
F1072L |
probably damaging |
Het |
| Dnai2 |
C |
T |
11: 114,641,297 (GRCm39) |
P374L |
probably damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,511,134 (GRCm39) |
F1289I |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,156,588 (GRCm39) |
|
probably null |
Het |
| Fasn |
T |
C |
11: 120,700,671 (GRCm39) |
D2114G |
probably benign |
Het |
| Fbxl17 |
T |
A |
17: 63,532,072 (GRCm39) |
E590D |
probably damaging |
Het |
| Flnb |
G |
T |
14: 7,907,162 (GRCm38) |
R1245L |
probably benign |
Het |
| Folh1 |
A |
C |
7: 86,372,519 (GRCm39) |
I678M |
probably damaging |
Het |
| Hal |
G |
A |
10: 93,343,381 (GRCm39) |
A542T |
probably damaging |
Het |
| Hs3st2 |
T |
A |
7: 121,099,910 (GRCm39) |
M252K |
probably damaging |
Het |
| Il27ra |
G |
T |
8: 84,758,660 (GRCm39) |
S499* |
probably null |
Het |
| Klhdc1 |
T |
A |
12: 69,302,983 (GRCm39) |
V173D |
possibly damaging |
Het |
| Knop1 |
CTCTTCTTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTCTTC |
7: 118,451,672 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
C |
T |
15: 101,648,906 (GRCm39) |
|
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,955,825 (GRCm39) |
V657A |
probably benign |
Het |
| Lrig1 |
G |
A |
6: 94,585,758 (GRCm39) |
S810L |
probably damaging |
Het |
| Lyst |
A |
T |
13: 13,871,290 (GRCm39) |
M2676L |
probably benign |
Het |
| Mindy4 |
T |
A |
6: 55,195,349 (GRCm39) |
S188T |
probably benign |
Het |
| Mrgprb3 |
C |
T |
7: 48,293,232 (GRCm39) |
M106I |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,468,526 (GRCm39) |
I311T |
probably damaging |
Het |
| Ndufa8 |
T |
A |
2: 35,926,571 (GRCm39) |
E155V |
possibly damaging |
Het |
| Nr4a1 |
A |
G |
15: 101,168,853 (GRCm39) |
|
probably null |
Het |
| Or2a12 |
A |
G |
6: 42,904,888 (GRCm39) |
H241R |
probably damaging |
Het |
| Orc3 |
T |
C |
4: 34,571,790 (GRCm39) |
T660A |
probably benign |
Het |
| Otub2 |
T |
C |
12: 103,370,536 (GRCm39) |
S273P |
probably damaging |
Het |
| Otulinl |
T |
C |
15: 27,664,792 (GRCm39) |
T55A |
probably benign |
Het |
| Phf11c |
A |
G |
14: 59,622,289 (GRCm39) |
L241P |
probably damaging |
Het |
| Pik3ca |
T |
A |
3: 32,516,946 (GRCm39) |
I1058N |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,143,996 (GRCm39) |
F359S |
possibly damaging |
Het |
| Plxnc1 |
A |
T |
10: 94,629,080 (GRCm39) |
F1565I |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,942,628 (GRCm39) |
V1156E |
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,890,000 (GRCm39) |
N73S |
probably benign |
Het |
| Pon2 |
A |
G |
6: 5,268,976 (GRCm39) |
|
probably null |
Het |
| Ptcd1 |
G |
A |
5: 145,096,386 (GRCm39) |
L236F |
probably damaging |
Het |
| Rgl2 |
A |
G |
17: 34,151,579 (GRCm39) |
I208V |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,763,197 (GRCm39) |
R927Q |
possibly damaging |
Het |
| Sacm1l |
T |
C |
9: 123,414,149 (GRCm39) |
|
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,989,746 (GRCm39) |
Y230C |
probably damaging |
Het |
| Sele |
G |
T |
1: 163,881,140 (GRCm39) |
G447C |
probably damaging |
Het |
| Slc17a1 |
G |
A |
13: 24,062,564 (GRCm39) |
|
probably null |
Het |
| Slc2a4 |
A |
T |
11: 69,836,751 (GRCm39) |
Y159* |
probably null |
Het |
| Slitrk5 |
A |
G |
14: 111,917,014 (GRCm39) |
K213E |
probably damaging |
Het |
| Tdrd1 |
C |
A |
19: 56,850,182 (GRCm39) |
Y981* |
probably null |
Het |
| Tex15 |
T |
C |
8: 34,064,556 (GRCm39) |
Y1329H |
probably benign |
Het |
| Tgif2 |
C |
G |
2: 156,686,114 (GRCm39) |
S2W |
probably damaging |
Het |
| Thoc5 |
A |
G |
11: 4,878,688 (GRCm39) |
M620V |
probably benign |
Het |
| Tmeff2 |
C |
T |
1: 51,220,994 (GRCm39) |
A323V |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem68 |
A |
C |
4: 3,569,588 (GRCm39) |
L34W |
probably damaging |
Het |
| Tmtc4 |
A |
T |
14: 123,170,230 (GRCm39) |
|
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,766,368 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
C |
A |
9: 21,020,617 (GRCm39) |
R938L |
probably benign |
Het |
| Usp33 |
A |
T |
3: 152,063,579 (GRCm39) |
T18S |
probably damaging |
Het |
| V1rd19 |
A |
T |
7: 23,703,310 (GRCm39) |
I259F |
probably benign |
Het |
| Vmn2r24 |
A |
C |
6: 123,781,231 (GRCm39) |
Q479P |
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,125 (GRCm39) |
M208V |
probably benign |
Het |
| Wfdc6a |
C |
T |
2: 164,422,225 (GRCm39) |
V125I |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,930,085 (GRCm39) |
|
probably benign |
Het |
| Zkscan17 |
A |
G |
11: 59,378,077 (GRCm39) |
C369R |
probably 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 |
|
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'- GCTCTGTTTTCAAGAACTCACTAG -3'
(R):5'- TGCACTTTCCCCAAGAATGC -3'
Sequencing Primer
(F):5'- GAACTCACTAGGATCCTAGACTAGG -3'
(R):5'- TTTCCCCAAGAATGCAACAATTGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation