Incidental Mutation 'R0013:Tut4'
| ID |
32621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut4
|
| Ensembl Gene |
ENSMUSG00000034610 |
| Gene Name |
terminal uridylyl transferase 4 |
| Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
| MMRRC Submission |
038308-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0013 (G1)
|
| Quality Score |
125 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 108388152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
|
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
94% (79/84) |
| 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 |
|---|
| 2610028H24Rik |
A |
G |
10: 76,293,346 (GRCm39) |
M156V |
probably benign |
Het |
| Adnp2 |
A |
T |
18: 80,172,960 (GRCm39) |
V483D |
probably damaging |
Het |
| Aff1 |
G |
T |
5: 103,976,350 (GRCm39) |
E491* |
probably null |
Het |
| Agl |
A |
T |
3: 116,570,257 (GRCm39) |
C911* |
probably null |
Het |
| Akt2 |
A |
G |
7: 27,335,483 (GRCm39) |
D284G |
probably damaging |
Het |
| Alox15 |
A |
G |
11: 70,240,461 (GRCm39) |
M240T |
possibly damaging |
Het |
| Antxr2 |
A |
G |
5: 98,127,844 (GRCm39) |
V229A |
probably damaging |
Het |
| Arap2 |
G |
A |
5: 62,840,827 (GRCm39) |
L680F |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,935,773 (GRCm39) |
T188A |
probably benign |
Het |
| Btnl6 |
G |
A |
17: 34,734,505 (GRCm39) |
Q86* |
probably null |
Het |
| C2cd3 |
T |
A |
7: 100,065,269 (GRCm39) |
L685H |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,248,952 (GRCm39) |
T878A |
possibly damaging |
Het |
| Clec4b2 |
T |
C |
6: 123,179,108 (GRCm39) |
Y137H |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,405,043 (GRCm39) |
T2500S |
possibly damaging |
Het |
| Def6 |
A |
G |
17: 28,436,066 (GRCm39) |
Y75C |
probably damaging |
Het |
| Dhx33 |
A |
T |
11: 70,884,461 (GRCm39) |
F448L |
probably damaging |
Het |
| Dner |
C |
T |
1: 84,472,614 (GRCm39) |
|
probably benign |
Het |
| Dnmbp |
G |
A |
19: 43,890,670 (GRCm39) |
P366S |
probably benign |
Het |
| Eif4g3 |
T |
C |
4: 137,903,159 (GRCm39) |
C1160R |
possibly damaging |
Het |
| Elmod1 |
G |
A |
9: 53,820,185 (GRCm39) |
|
probably benign |
Het |
| Faah |
C |
A |
4: 115,861,588 (GRCm39) |
L305F |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,507,824 (GRCm39) |
|
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,651,471 (GRCm39) |
N1196K |
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,153,664 (GRCm39) |
N320S |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,297,631 (GRCm39) |
T312A |
unknown |
Het |
| Glp2r |
C |
A |
11: 67,600,538 (GRCm39) |
G437V |
possibly damaging |
Het |
| Gm4884 |
T |
C |
7: 40,693,716 (GRCm39) |
S562P |
probably damaging |
Het |
| Gm9936 |
A |
G |
5: 114,995,408 (GRCm39) |
|
probably benign |
Het |
| Gpn2 |
C |
A |
4: 133,312,103 (GRCm39) |
P112T |
probably damaging |
Het |
| Grm4 |
A |
G |
17: 27,650,549 (GRCm39) |
Y816H |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,882,752 (GRCm39) |
S14T |
probably benign |
Het |
| Htt |
T |
C |
5: 34,977,448 (GRCm39) |
L778P |
probably benign |
Het |
| Il11ra1 |
T |
C |
4: 41,765,060 (GRCm39) |
S129P |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,971,625 (GRCm39) |
F315S |
probably damaging |
Het |
| Itga11 |
A |
T |
9: 62,683,895 (GRCm39) |
N1059Y |
possibly damaging |
Het |
| Jak3 |
A |
G |
8: 72,136,971 (GRCm39) |
S716G |
probably damaging |
Het |
| Kcns1 |
G |
T |
2: 164,010,563 (GRCm39) |
D65E |
probably benign |
Het |
| Kdm5d |
A |
T |
Y: 941,715 (GRCm39) |
K1305N |
probably benign |
Het |
| Kif26a |
G |
T |
12: 112,144,314 (GRCm39) |
V1523L |
probably benign |
Het |
| Mboat7 |
A |
G |
7: 3,686,821 (GRCm39) |
S340P |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,879,156 (GRCm39) |
I234V |
probably benign |
Het |
| Mex3c |
G |
A |
18: 73,723,622 (GRCm39) |
A572T |
probably benign |
Het |
| Mpp3 |
C |
A |
11: 101,896,251 (GRCm39) |
R424L |
probably benign |
Het |
| Mroh4 |
T |
A |
15: 74,480,086 (GRCm39) |
|
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,767,489 (GRCm39) |
|
probably benign |
Het |
| Myog |
T |
A |
1: 134,217,973 (GRCm39) |
H60Q |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,270,650 (GRCm39) |
|
probably null |
Het |
| Notch1 |
A |
G |
2: 26,363,830 (GRCm39) |
V868A |
possibly damaging |
Het |
| Or10g9b |
A |
T |
9: 39,917,651 (GRCm39) |
I198N |
probably damaging |
Het |
| Or1j20 |
A |
G |
2: 36,760,172 (GRCm39) |
N198S |
probably damaging |
Het |
| Or1p1 |
T |
A |
11: 74,179,877 (GRCm39) |
I135N |
possibly damaging |
Het |
| Or5d18 |
T |
C |
2: 87,864,610 (GRCm39) |
Y291C |
possibly damaging |
Het |
| Pink1 |
T |
C |
4: 138,044,712 (GRCm39) |
T342A |
probably benign |
Het |
| Plb1 |
T |
A |
5: 32,506,959 (GRCm39) |
|
probably benign |
Het |
| Plec |
T |
C |
15: 76,062,446 (GRCm39) |
D2524G |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 106,102,028 (GRCm39) |
E6* |
probably null |
Het |
| Polq |
T |
C |
16: 36,882,201 (GRCm39) |
F1455S |
possibly damaging |
Het |
| Ppm1e |
A |
G |
11: 87,139,884 (GRCm39) |
|
probably benign |
Het |
| Prkaca |
G |
A |
8: 84,714,932 (GRCm39) |
M119I |
possibly damaging |
Het |
| Prss46 |
G |
T |
9: 110,679,123 (GRCm39) |
S108I |
probably damaging |
Het |
| Ptma |
C |
T |
1: 86,457,498 (GRCm39) |
|
probably benign |
Het |
| Rab11fip4 |
C |
T |
11: 79,580,479 (GRCm39) |
T437M |
probably benign |
Het |
| Rngtt |
T |
A |
4: 33,379,409 (GRCm39) |
M437K |
probably benign |
Het |
| Rrn3 |
T |
A |
16: 13,630,977 (GRCm39) |
D604E |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,239,231 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
G |
3: 72,817,809 (GRCm39) |
L1468P |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,598,745 (GRCm39) |
M1450V |
probably benign |
Het |
| Smg5 |
T |
C |
3: 88,256,540 (GRCm39) |
S269P |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,533,686 (GRCm39) |
T323A |
probably damaging |
Het |
| Son |
C |
T |
16: 91,448,550 (GRCm39) |
T37I |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,803,291 (GRCm39) |
I41M |
probably benign |
Het |
| Tgm5 |
T |
A |
2: 120,907,363 (GRCm39) |
Y120F |
probably damaging |
Het |
| Tppp |
A |
G |
13: 74,169,479 (GRCm39) |
K73R |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,569,502 (GRCm39) |
K27130N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,738,096 (GRCm39) |
V4148I |
probably benign |
Het |
| Uba7 |
A |
T |
9: 107,855,448 (GRCm39) |
Y375F |
probably damaging |
Het |
| Ugcg |
T |
C |
4: 59,213,931 (GRCm39) |
L171P |
possibly damaging |
Het |
| Vsig2 |
T |
C |
9: 37,453,872 (GRCm39) |
|
probably benign |
Het |
| Zfp839 |
T |
A |
12: 110,834,820 (GRCm39) |
S692T |
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 |
|
|
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 |
|
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'- AACAGAGTAGTCAGTGGTTTGTGGAATG -3'
(R):5'- TCGATGACAGAAAATCCATCATGACCTC -3'
Sequencing Primer
(F):5'- AGCGCTGTGACATTGGAGAT -3'
(R):5'- AGCACCTGTAACAgttctttgtg -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation