Incidental Mutation 'R5014:Tut4'
| ID |
385419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut4
|
| Ensembl Gene |
ENSMUSG00000034610 |
| Gene Name |
terminal uridylyl transferase 4 |
| Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
| MMRRC Submission |
042605-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5014 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 108384043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
[ENSMUST00000155068]
|
| AlphaFold |
B2RX14 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043368
|
| SMART Domains |
Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
| 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
|
| SMART Domains |
Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
| 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: ENSMUST00000138809
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157089
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.7%
|
| Validation Efficiency |
97% (83/86) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,896 (GRCm39) |
T1353A |
probably benign |
Het |
| Abca8b |
A |
T |
11: 109,840,957 (GRCm39) |
I1072N |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,438 (GRCm39) |
T517A |
probably benign |
Het |
| Blk |
T |
G |
14: 63,617,236 (GRCm39) |
N257T |
probably benign |
Het |
| Brd4 |
A |
T |
17: 32,417,372 (GRCm39) |
|
probably benign |
Het |
| Calr4 |
C |
T |
4: 109,092,994 (GRCm39) |
Q25* |
probably null |
Het |
| Cbl |
T |
C |
9: 44,065,696 (GRCm39) |
|
probably null |
Het |
| Ccdc30 |
T |
G |
4: 119,250,824 (GRCm39) |
H6P |
possibly damaging |
Het |
| Cd101 |
A |
C |
3: 100,911,139 (GRCm39) |
Y840D |
probably damaging |
Het |
| Cd68 |
T |
A |
11: 69,556,165 (GRCm39) |
N178Y |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,803,952 (GRCm39) |
T1044A |
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,207,291 (GRCm39) |
V1876A |
probably benign |
Het |
| Clec2g |
T |
A |
6: 128,925,765 (GRCm39) |
M58K |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,755,793 (GRCm39) |
E860G |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,906,794 (GRCm39) |
|
probably null |
Het |
| Cul7 |
A |
G |
17: 46,966,868 (GRCm39) |
*650W |
probably null |
Het |
| Dkk4 |
C |
T |
8: 23,115,315 (GRCm39) |
A55V |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnai7 |
T |
C |
6: 145,128,992 (GRCm39) |
E407G |
probably damaging |
Het |
| Dnase1 |
C |
A |
16: 3,856,880 (GRCm39) |
Y170* |
probably null |
Het |
| Dnmt1 |
A |
C |
9: 20,823,550 (GRCm39) |
I1019S |
probably benign |
Het |
| Epha6 |
T |
A |
16: 59,486,942 (GRCm39) |
H1035L |
probably benign |
Het |
| Fam124b |
T |
C |
1: 80,177,776 (GRCm39) |
T408A |
probably benign |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 57,998,414 (GRCm39) |
E305G |
probably damaging |
Het |
| Garin1b |
C |
T |
6: 29,326,723 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
A |
11: 77,389,821 (GRCm39) |
V28E |
probably damaging |
Het |
| Gm10010 |
C |
T |
6: 128,177,556 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4956 |
T |
C |
1: 21,363,821 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr152 |
T |
G |
19: 4,193,506 (GRCm39) |
V349G |
probably benign |
Het |
| Gtsf1l |
C |
T |
2: 162,929,112 (GRCm39) |
V124I |
probably damaging |
Het |
| Gucy1b1 |
C |
G |
3: 81,953,974 (GRCm39) |
G114A |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,720,936 (GRCm39) |
Q166R |
possibly damaging |
Het |
| Hook2 |
A |
G |
8: 85,718,006 (GRCm39) |
I44M |
probably damaging |
Het |
| Ildr1 |
T |
A |
16: 36,541,921 (GRCm39) |
M222K |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,997,640 (GRCm39) |
F55Y |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 191,959,388 (GRCm39) |
N314S |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,746,748 (GRCm39) |
F748L |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,826,407 (GRCm39) |
|
probably benign |
Het |
| Msh2 |
A |
T |
17: 88,025,004 (GRCm39) |
K627N |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,251,534 (GRCm39) |
Q219R |
probably damaging |
Het |
| Ndufb3 |
T |
A |
1: 58,630,401 (GRCm39) |
W51R |
probably damaging |
Het |
| Nfasc |
A |
T |
1: 132,512,185 (GRCm39) |
|
probably benign |
Het |
| Or2c1 |
T |
A |
16: 3,656,912 (GRCm39) |
I25N |
probably benign |
Het |
| Or2h2 |
T |
A |
17: 37,396,446 (GRCm39) |
I204F |
probably benign |
Het |
| Or8s8 |
T |
C |
15: 98,354,857 (GRCm39) |
V222A |
possibly damaging |
Het |
| P3h3 |
T |
A |
6: 124,832,199 (GRCm39) |
E229V |
probably damaging |
Het |
| Ppfia2 |
T |
A |
10: 106,701,224 (GRCm39) |
L837* |
probably null |
Het |
| Ppp2r1a |
G |
A |
17: 21,179,101 (GRCm39) |
|
probably null |
Het |
| Rabgap1 |
T |
A |
2: 37,377,152 (GRCm39) |
V328E |
probably damaging |
Het |
| Ralgapb |
G |
A |
2: 158,337,455 (GRCm39) |
R1138Q |
probably damaging |
Het |
| Ranbp2 |
A |
T |
10: 58,299,942 (GRCm39) |
Q498L |
probably benign |
Het |
| Rbx1 |
T |
A |
15: 81,355,161 (GRCm39) |
C56S |
probably damaging |
Het |
| Rcan2 |
T |
C |
17: 44,328,704 (GRCm39) |
F45S |
probably damaging |
Het |
| Rgs20 |
T |
C |
1: 4,980,770 (GRCm39) |
Y185C |
probably damaging |
Het |
| Rorc |
T |
G |
3: 94,298,460 (GRCm39) |
L315R |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,066,401 (GRCm39) |
V194A |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,290,987 (GRCm39) |
K406E |
possibly damaging |
Het |
| Slc35g3 |
T |
A |
11: 69,651,866 (GRCm39) |
K62* |
probably null |
Het |
| Sox30 |
T |
C |
11: 45,882,736 (GRCm39) |
S589P |
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,346,102 (GRCm39) |
C1362* |
probably null |
Het |
| Tecta |
C |
T |
9: 42,284,538 (GRCm39) |
C849Y |
probably damaging |
Het |
| Thbs1 |
T |
A |
2: 117,950,518 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tyk2 |
C |
T |
9: 21,027,126 (GRCm39) |
|
probably null |
Het |
| Tyw5 |
C |
A |
1: 57,446,004 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,980,828 (GRCm39) |
T761A |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,822,897 (GRCm39) |
C1401S |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,578,340 (GRCm39) |
N391D |
probably damaging |
Het |
| Ylpm1 |
G |
A |
12: 85,061,523 (GRCm39) |
E475K |
unknown |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,142,594 (GRCm39) |
D100G |
probably benign |
Het |
| Zfp990 |
T |
A |
4: 145,264,669 (GRCm39) |
C556S |
possibly damaging |
Het |
| Zkscan16 |
C |
T |
4: 58,951,892 (GRCm39) |
P189L |
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 |
|
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 |
|
|
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'- CCTTGGATCGTTCTAGAATAGTCATA -3'
(R):5'- TTAAAGTATAATTATAGATGGCTGGGC -3'
Sequencing Primer
(F):5'- GCAGGCTCCAAGTCTATGCTAATG -3'
(R):5'- GGCTGGGCCTAAAAGAAAAACTTACC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation