Incidental Mutation 'R6307:Tut4'
| ID |
509454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut4
|
| Ensembl Gene |
ENSMUSG00000034610 |
| Gene Name |
terminal uridylyl transferase 4 |
| Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
| MMRRC Submission |
044412-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6307 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108412817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1506
(I1506N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
[ENSMUST00000128042]
|
| AlphaFold |
B2RX14 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043368
AA Change: I1501N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: I1501N
| 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: I1506N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: I1506N
| 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: ENSMUST00000127602
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128042
|
| SMART Domains |
Protein: ENSMUSP00000116253
Gene: ENSMUSG00000034610
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145590
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,843,221 (GRCm39) |
L1232P |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,188,351 (GRCm39) |
I1922F |
possibly damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arpc5 |
T |
C |
1: 152,647,206 (GRCm39) |
V103A |
possibly damaging |
Het |
| Atp9a |
C |
A |
2: 168,510,090 (GRCm39) |
V430F |
probably benign |
Het |
| Bod1 |
A |
G |
11: 31,616,932 (GRCm39) |
S110P |
probably damaging |
Het |
| Cacna1c |
C |
A |
6: 118,590,914 (GRCm39) |
V1453F |
probably damaging |
Het |
| Capn8 |
T |
A |
1: 182,435,264 (GRCm39) |
M414K |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,069,809 (GRCm39) |
|
probably null |
Het |
| Ccdc42 |
A |
T |
11: 68,479,106 (GRCm39) |
Q98L |
probably damaging |
Het |
| Ccn3 |
T |
C |
15: 54,611,421 (GRCm39) |
|
probably null |
Het |
| Cd200 |
C |
A |
16: 45,217,545 (GRCm39) |
V49L |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,812,531 (GRCm39) |
S2060P |
probably benign |
Het |
| Ces1g |
A |
T |
8: 94,057,820 (GRCm39) |
H160Q |
possibly damaging |
Het |
| Chrnb2 |
G |
T |
3: 89,668,831 (GRCm39) |
H161Q |
probably damaging |
Het |
| Ctns |
G |
A |
11: 73,082,559 (GRCm39) |
T57I |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,931,766 (GRCm39) |
M114K |
possibly damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,057,871 (GRCm39) |
F536L |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,943,826 (GRCm39) |
R275Q |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,289,990 (GRCm39) |
H2508Q |
possibly damaging |
Het |
| Elf5 |
C |
A |
2: 103,269,757 (GRCm39) |
Q113K |
probably damaging |
Het |
| Fam83a |
T |
G |
15: 57,849,507 (GRCm39) |
V17G |
possibly damaging |
Het |
| Farsa |
T |
C |
8: 85,587,674 (GRCm39) |
|
probably null |
Het |
| Fat2 |
G |
C |
11: 55,172,106 (GRCm39) |
T2869S |
possibly damaging |
Het |
| Fgg |
A |
T |
3: 82,920,283 (GRCm39) |
Q354L |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,372,517 (GRCm39) |
D679G |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,270,975 (GRCm39) |
R83* |
probably null |
Het |
| Gm17482 |
T |
A |
6: 115,204,311 (GRCm39) |
|
probably benign |
Het |
| Hmgxb4 |
T |
A |
8: 75,749,927 (GRCm39) |
V481D |
possibly damaging |
Het |
| Ifi207 |
A |
C |
1: 173,552,619 (GRCm39) |
Y926D |
probably damaging |
Het |
| Ikzf5 |
T |
A |
7: 130,993,377 (GRCm39) |
N264Y |
probably damaging |
Het |
| Kat6a |
T |
A |
8: 23,430,384 (GRCm39) |
M1913K |
unknown |
Het |
| Krt33b |
A |
T |
11: 99,915,694 (GRCm39) |
C351S |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,427,944 (GRCm39) |
D543G |
probably damaging |
Het |
| Lrrfip2 |
C |
T |
9: 111,053,021 (GRCm39) |
R339W |
probably damaging |
Het |
| Mapk3 |
T |
G |
7: 126,363,454 (GRCm39) |
M276R |
probably benign |
Het |
| Mgst1 |
T |
C |
6: 138,127,827 (GRCm39) |
V137A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,558,884 (GRCm39) |
T2470A |
unknown |
Het |
| Muc4 |
C |
T |
16: 32,575,237 (GRCm39) |
S1274F |
possibly damaging |
Het |
| Myo5c |
A |
C |
9: 75,180,198 (GRCm39) |
K713T |
possibly damaging |
Het |
| Myzap |
T |
C |
9: 71,466,146 (GRCm39) |
D170G |
possibly damaging |
Het |
| Naa50 |
T |
C |
16: 43,979,831 (GRCm39) |
V113A |
probably damaging |
Het |
| Neu3 |
T |
C |
7: 99,462,929 (GRCm39) |
T265A |
probably benign |
Het |
| Nin |
T |
C |
12: 70,061,631 (GRCm39) |
T2078A |
possibly damaging |
Het |
| Nomo1 |
G |
A |
7: 45,683,260 (GRCm39) |
|
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,189,828 (GRCm39) |
L273P |
probably damaging |
Het |
| Oaf |
T |
A |
9: 43,136,216 (GRCm39) |
H120L |
possibly damaging |
Het |
| Or10s1 |
T |
C |
9: 39,985,824 (GRCm39) |
S78P |
probably damaging |
Het |
| Or13p4 |
C |
T |
4: 118,547,145 (GRCm39) |
R168H |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8k21 |
T |
C |
2: 86,145,468 (GRCm39) |
H54R |
probably benign |
Het |
| Pcdhga3 |
T |
A |
18: 37,809,674 (GRCm39) |
|
probably benign |
Het |
| Polq |
G |
A |
16: 36,837,718 (GRCm39) |
|
probably null |
Het |
| Prdm8 |
C |
T |
5: 98,333,162 (GRCm39) |
P243L |
possibly damaging |
Het |
| Prim2 |
T |
C |
1: 33,701,373 (GRCm39) |
D138G |
probably benign |
Het |
| Prl2c5 |
A |
G |
13: 13,365,175 (GRCm39) |
E107G |
probably benign |
Het |
| Prr14l |
T |
A |
5: 32,984,869 (GRCm39) |
H1542L |
probably damaging |
Het |
| Rab26 |
T |
C |
17: 24,749,072 (GRCm39) |
E203G |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,871,662 (GRCm39) |
H350L |
possibly damaging |
Het |
| Scara3 |
T |
C |
14: 66,175,710 (GRCm39) |
D19G |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,302,685 (GRCm39) |
S1254P |
probably damaging |
Het |
| Sdcbp |
A |
G |
4: 6,385,059 (GRCm39) |
M93V |
probably benign |
Het |
| Sema6a |
C |
A |
18: 47,382,231 (GRCm39) |
R772L |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,584,006 (GRCm39) |
K428R |
probably benign |
Het |
| Sptbn2 |
G |
A |
19: 4,774,674 (GRCm39) |
G109D |
probably damaging |
Het |
| Tmppe |
T |
C |
9: 114,233,812 (GRCm39) |
L37P |
probably benign |
Het |
| Tuba1a |
T |
C |
15: 98,849,410 (GRCm39) |
T56A |
probably benign |
Het |
| Vmn2r111 |
A |
G |
17: 22,792,070 (GRCm39) |
I62T |
probably benign |
Het |
| Vmn2r73 |
A |
G |
7: 85,506,828 (GRCm39) |
I828T |
probably damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,686,976 (GRCm39) |
W786R |
probably damaging |
Het |
| Zp1 |
G |
A |
19: 10,894,084 (GRCm39) |
T405M |
probably null |
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 |
|
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'- AGCCTCAGCCTTTTCCACAG -3'
(R):5'- TTCACCAGGGAATTGGGAGC -3'
Sequencing Primer
(F):5'- GAATTCTCCCCAACCATCTGC -3'
(R):5'- GAATTGGGAGCCACGGTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation