Incidental Mutation 'R8805:Tut4'
| ID |
671991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut4
|
| Ensembl Gene |
ENSMUSG00000034610 |
| Gene Name |
terminal uridylyl transferase 4 |
| Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
| MMRRC Submission |
068642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8805 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108406575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1381
(V1381A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
|
| AlphaFold |
B2RX14 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043368
AA Change: V1376A
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: V1376A
| 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 |
possibly damaging
Transcript: ENSMUST00000097925
AA Change: V1381A
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: V1381A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (70/73) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
A |
17: 9,226,737 (GRCm39) |
W467* |
probably null |
Het |
| 4921509C19Rik |
A |
T |
2: 151,313,285 (GRCm39) |
|
probably benign |
Het |
| Actl6b |
G |
A |
5: 137,552,918 (GRCm39) |
M82I |
probably benign |
Het |
| Bmp2 |
T |
A |
2: 133,403,254 (GRCm39) |
D268E |
probably damaging |
Het |
| Cacng7 |
T |
A |
7: 3,415,298 (GRCm39) |
L221H |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,601,712 (GRCm39) |
V224A |
probably damaging |
Het |
| Cdc40 |
A |
G |
10: 40,733,576 (GRCm39) |
F125L |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,211,979 (GRCm39) |
A1669T |
unknown |
Het |
| Cfap58 |
A |
T |
19: 47,941,535 (GRCm39) |
E301V |
probably damaging |
Het |
| Clcn2 |
C |
A |
16: 20,532,168 (GRCm39) |
G96C |
probably damaging |
Het |
| Cotl1 |
T |
A |
8: 120,536,944 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
G |
A |
1: 67,216,110 (GRCm39) |
A812T |
probably damaging |
Het |
| Cracd |
T |
C |
5: 77,006,489 (GRCm39) |
V950A |
unknown |
Het |
| Crnkl1 |
T |
C |
2: 145,773,350 (GRCm39) |
|
probably null |
Het |
| Cry1 |
A |
G |
10: 84,992,969 (GRCm39) |
V83A |
probably benign |
Het |
| Cyp2a5 |
G |
T |
7: 26,540,530 (GRCm39) |
R381L |
probably damaging |
Het |
| Cyp46a1 |
T |
C |
12: 108,327,462 (GRCm39) |
F425L |
probably damaging |
Het |
| Dek |
A |
T |
13: 47,252,930 (GRCm39) |
N158K |
unknown |
Het |
| Dgcr8 |
T |
A |
16: 18,076,161 (GRCm39) |
Q674L |
probably damaging |
Het |
| Dlec1 |
C |
A |
9: 118,941,650 (GRCm39) |
S345R |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,273,305 (GRCm39) |
C2478S |
possibly damaging |
Het |
| Dstyk |
T |
A |
1: 132,361,963 (GRCm39) |
L131Q |
probably damaging |
Het |
| Fbxw7 |
T |
A |
3: 84,862,227 (GRCm39) |
L186M |
|
Het |
| Fn1 |
T |
C |
1: 71,644,239 (GRCm39) |
Q1684R |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,813,453 (GRCm39) |
H3257Q |
possibly damaging |
Het |
| Gm5773 |
T |
C |
3: 93,681,042 (GRCm39) |
V238A |
probably damaging |
Het |
| Gm9611 |
T |
C |
14: 42,116,657 (GRCm39) |
D131G |
|
Het |
| Gpatch8 |
T |
C |
11: 102,371,018 (GRCm39) |
E840G |
unknown |
Het |
| Grm5 |
G |
A |
7: 87,453,176 (GRCm39) |
R271Q |
probably damaging |
Het |
| Has3 |
A |
T |
8: 107,601,135 (GRCm39) |
Y199F |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,315,393 (GRCm39) |
N3714S |
probably benign |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Il2 |
T |
A |
3: 37,177,282 (GRCm39) |
T85S |
possibly damaging |
Het |
| Kank4 |
T |
C |
4: 98,668,273 (GRCm39) |
H58R |
possibly damaging |
Het |
| Kcnk4 |
T |
A |
19: 6,905,379 (GRCm39) |
I154F |
probably damaging |
Het |
| Krt1c |
T |
C |
15: 101,724,379 (GRCm39) |
K295R |
possibly damaging |
Het |
| Lipm |
A |
T |
19: 34,090,308 (GRCm39) |
D163V |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,340,215 (GRCm39) |
N70S |
probably damaging |
Het |
| Mgme1 |
A |
G |
2: 144,114,451 (GRCm39) |
|
probably benign |
Het |
| Mnd1 |
T |
A |
3: 83,995,432 (GRCm39) |
E187D |
probably benign |
Het |
| Morn5 |
A |
G |
2: 35,969,533 (GRCm39) |
D149G |
probably benign |
Het |
| Mrrf |
G |
A |
2: 36,037,965 (GRCm39) |
V79I |
probably damaging |
Het |
| Msh4 |
T |
A |
3: 153,563,270 (GRCm39) |
Q896L |
probably benign |
Het |
| Mtus2 |
A |
C |
5: 148,015,303 (GRCm39) |
M699L |
possibly damaging |
Het |
| Mycbp |
T |
A |
4: 123,803,880 (GRCm39) |
C130S |
unknown |
Het |
| Ntn5 |
A |
T |
7: 45,333,899 (GRCm39) |
Y4F |
probably benign |
Het |
| Or7e174 |
T |
C |
9: 20,012,580 (GRCm39) |
V175A |
probably benign |
Het |
| Osm |
A |
G |
11: 4,189,839 (GRCm39) |
S208G |
probably benign |
Het |
| Pcsk6 |
T |
A |
7: 65,578,891 (GRCm39) |
Y222N |
possibly damaging |
Het |
| Pde6a |
A |
G |
18: 61,390,104 (GRCm39) |
E486G |
probably benign |
Het |
| Pdzk1 |
T |
A |
3: 96,758,910 (GRCm39) |
L105Q |
possibly damaging |
Het |
| Prkd1 |
C |
G |
12: 50,435,155 (GRCm39) |
S524T |
probably benign |
Het |
| Prkd1 |
T |
A |
12: 50,435,156 (GRCm39) |
S524C |
probably damaging |
Het |
| Rab4b |
T |
C |
7: 26,874,148 (GRCm39) |
I90V |
|
Het |
| Rc3h1 |
T |
C |
1: 160,795,222 (GRCm39) |
V1083A |
probably benign |
Het |
| Rfx7 |
C |
T |
9: 72,524,316 (GRCm39) |
T502I |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,702,558 (GRCm39) |
Y332C |
probably damaging |
Het |
| Senp2 |
A |
G |
16: 21,846,789 (GRCm39) |
T265A |
probably benign |
Het |
| Slc38a3 |
T |
C |
9: 107,532,345 (GRCm39) |
M396V |
probably benign |
Het |
| Sord |
G |
A |
2: 122,094,607 (GRCm39) |
V332I |
probably benign |
Het |
| Sprr1b |
GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA |
GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA |
3: 92,344,653 (GRCm39) |
|
probably benign |
Het |
| Star |
G |
A |
8: 26,299,577 (GRCm39) |
R53H |
probably benign |
Het |
| Stard4 |
T |
G |
18: 33,336,749 (GRCm39) |
I189L |
possibly damaging |
Het |
| Stk38 |
G |
T |
17: 29,219,094 (GRCm39) |
T7K |
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,713,859 (GRCm39) |
K227* |
probably null |
Het |
| Taf4b |
C |
T |
18: 14,946,485 (GRCm39) |
P436L |
possibly damaging |
Het |
| Tgm3 |
T |
A |
2: 129,889,702 (GRCm39) |
V632E |
probably damaging |
Het |
| Tmem158 |
A |
G |
9: 123,089,309 (GRCm39) |
F101S |
probably damaging |
Het |
| Trmt10b |
T |
C |
4: 45,301,281 (GRCm39) |
S77P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,720,307 (GRCm39) |
L6973* |
probably null |
Het |
| Tubal3 |
T |
C |
13: 3,983,293 (GRCm39) |
F358L |
probably damaging |
Het |
| Vmn1r214 |
C |
T |
13: 23,219,273 (GRCm39) |
L256F |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,396 (GRCm39) |
V740A |
probably benign |
Het |
| Yipf1 |
A |
T |
4: 107,193,355 (GRCm39) |
E80D |
probably benign |
Het |
| Zdhhc2 |
G |
T |
8: 40,898,846 (GRCm39) |
|
probably null |
Het |
| Zfp655 |
C |
T |
5: 145,181,290 (GRCm39) |
H383Y |
probably damaging |
Het |
| Zfp981 |
C |
T |
4: 146,622,410 (GRCm39) |
T445I |
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 |
|
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 |
|
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'- GTTCCTGGCTCCACATTATTGG -3'
(R):5'- TATTGAACTAAATCCCTAGCCCAG -3'
Sequencing Primer
(F):5'- GGCTCCACATTATTGGTATCAGCAG -3'
(R):5'- CTGTAATTCCAGGGAAGCTAATGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation