Incidental Mutation 'R7584:Tut4'
| ID |
586953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut4
|
| Ensembl Gene |
ENSMUSG00000034610 |
| Gene Name |
terminal uridylyl transferase 4 |
| Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
| MMRRC Submission |
045667-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7584 (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 108336543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 89
(V89A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
[ENSMUST00000106673]
[ENSMUST00000155068]
|
| AlphaFold |
B2RX14 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043368
AA Change: V128A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: V128A
| 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
AA Change: V128A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: V128A
| 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 |
probably benign
Transcript: ENSMUST00000106673
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155068
AA Change: V89A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000120172
Gene: ENSMUSG00000034610
AA Change: V89A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (74/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
G |
17: 46,626,304 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
T |
C |
3: 30,652,356 (GRCm39) |
K246R |
probably benign |
Het |
| Adam23 |
T |
A |
1: 63,584,621 (GRCm39) |
V343D |
probably damaging |
Het |
| Ak2 |
T |
C |
4: 128,893,005 (GRCm39) |
S55P |
probably damaging |
Het |
| Ank2 |
G |
A |
3: 126,739,777 (GRCm39) |
Q2036* |
probably null |
Het |
| Ano10 |
A |
G |
9: 122,104,597 (GRCm39) |
I40T |
probably benign |
Het |
| Aoc2 |
T |
A |
11: 101,217,005 (GRCm39) |
C363S |
possibly damaging |
Het |
| Aplp2 |
A |
T |
9: 31,069,077 (GRCm39) |
V584E |
possibly damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,168,263 (GRCm39) |
T749S |
probably benign |
Het |
| Atm |
A |
T |
9: 53,424,427 (GRCm39) |
F625I |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,824,766 (GRCm39) |
L2387P |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,799,803 (GRCm39) |
G274D |
probably damaging |
Het |
| Bcl2a1a |
A |
T |
9: 88,839,345 (GRCm39) |
D81V |
probably damaging |
Het |
| Ccdc63 |
T |
G |
5: 122,251,267 (GRCm39) |
D381A |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,610,578 (GRCm39) |
|
probably null |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Cyp4b1 |
T |
A |
4: 115,485,884 (GRCm39) |
D351V |
probably damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,056,353 (GRCm39) |
S562G |
probably damaging |
Het |
| Dgkb |
T |
A |
12: 38,189,391 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
C |
T |
7: 130,690,481 (GRCm39) |
Q905* |
probably null |
Het |
| Dnajc21 |
A |
C |
15: 10,462,381 (GRCm39) |
Y81* |
probably null |
Het |
| Dnali1 |
T |
C |
4: 124,959,331 (GRCm39) |
T21A |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,986,064 (GRCm39) |
L851F |
probably damaging |
Het |
| Dpt |
T |
C |
1: 164,646,477 (GRCm39) |
Y149H |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,512,627 (GRCm39) |
V983A |
unknown |
Het |
| Faf1 |
C |
T |
4: 109,783,154 (GRCm39) |
R549C |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,971,749 (GRCm39) |
N230S |
possibly damaging |
Het |
| Gm10803 |
T |
A |
2: 93,394,513 (GRCm39) |
I95N |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,456,798 (GRCm39) |
I721N |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,881,197 (GRCm39) |
H315R |
probably damaging |
Het |
| Igkv10-95 |
T |
A |
6: 68,657,740 (GRCm39) |
S85R |
possibly damaging |
Het |
| Katnip |
G |
T |
7: 125,469,838 (GRCm39) |
V1436L |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,472,545 (GRCm39) |
T901A |
probably benign |
Het |
| Kremen1 |
C |
T |
11: 5,144,964 (GRCm39) |
V471M |
possibly damaging |
Het |
| Lama2 |
C |
A |
10: 26,980,257 (GRCm39) |
D1853Y |
possibly damaging |
Het |
| Lrif1 |
A |
G |
3: 106,639,217 (GRCm39) |
T76A |
probably benign |
Het |
| Lrrtm2 |
T |
A |
18: 35,345,818 (GRCm39) |
I495F |
possibly damaging |
Het |
| Ltbr |
G |
T |
6: 125,284,204 (GRCm39) |
Q413K |
probably benign |
Het |
| Ms4a20 |
A |
G |
19: 11,087,725 (GRCm39) |
F69L |
possibly damaging |
Het |
| Myrfl |
T |
A |
10: 116,664,902 (GRCm39) |
Y376F |
probably damaging |
Het |
| Nup50l |
A |
C |
6: 96,142,373 (GRCm39) |
L224V |
probably benign |
Het |
| Nup98 |
G |
T |
7: 101,825,596 (GRCm39) |
N414K |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,109,041 (GRCm39) |
T1383A |
probably damaging |
Het |
| Or4c15 |
G |
A |
2: 88,760,149 (GRCm39) |
P170L |
probably damaging |
Het |
| Or5j1 |
A |
T |
2: 86,879,478 (GRCm39) |
I34N |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,223,901 (GRCm39) |
I133N |
probably damaging |
Het |
| Or7g27 |
C |
A |
9: 19,250,569 (GRCm39) |
T271K |
possibly damaging |
Het |
| Or8b1d |
G |
T |
9: 38,558,191 (GRCm39) |
P210T |
possibly damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,425 (GRCm39) |
S602T |
possibly damaging |
Het |
| Sall3 |
A |
G |
18: 81,017,745 (GRCm39) |
F61S |
probably benign |
Het |
| Scube1 |
G |
T |
15: 83,606,088 (GRCm39) |
C61* |
probably null |
Het |
| Sec31b |
T |
C |
19: 44,519,995 (GRCm39) |
|
probably null |
Het |
| Sec31b |
T |
C |
19: 44,531,762 (GRCm39) |
D49G |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,060,651 (GRCm39) |
I822T |
possibly damaging |
Het |
| Slc19a3 |
C |
T |
1: 83,000,469 (GRCm39) |
V183M |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,152,653 (GRCm39) |
|
probably benign |
Het |
| Sphk2 |
C |
A |
7: 45,361,931 (GRCm39) |
V169L |
probably damaging |
Het |
| Synpo |
C |
A |
18: 60,729,349 (GRCm39) |
R951L |
probably damaging |
Het |
| Tbc1d9b |
G |
A |
11: 50,061,543 (GRCm39) |
C1017Y |
probably damaging |
Het |
| Tmtc4 |
C |
A |
14: 123,215,563 (GRCm39) |
V28F |
probably benign |
Het |
| Tprkb |
A |
G |
6: 85,905,809 (GRCm39) |
I165V |
probably benign |
Het |
| Ttc23l |
T |
A |
15: 10,533,794 (GRCm39) |
I250F |
probably damaging |
Het |
| Ubr3 |
G |
A |
2: 69,821,847 (GRCm39) |
V1370I |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,460,306 (GRCm39) |
|
probably null |
Het |
| Usp9y |
T |
C |
Y: 1,384,451 (GRCm39) |
Y689C |
probably damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,198,895 (GRCm39) |
Y241N |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,472,683 (GRCm39) |
T13A |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,028 (GRCm39) |
N122K |
probably benign |
Het |
| Vps9d1 |
A |
G |
8: 123,977,456 (GRCm39) |
F131S |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wfdc16 |
A |
T |
2: 164,480,547 (GRCm39) |
|
probably null |
Het |
| Zbtb41 |
T |
A |
1: 139,351,795 (GRCm39) |
Y303N |
probably benign |
Het |
| Zbtb5 |
T |
C |
4: 44,993,678 (GRCm39) |
T569A |
probably benign |
Het |
| Zfp111 |
A |
G |
7: 23,898,025 (GRCm39) |
S530P |
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 |
|
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'- TGTAAAGTAAACGCTGCCAGTG -3'
(R):5'- AGGAGCTTGTAAGTTTCTTCCC -3'
Sequencing Primer
(F):5'- CAGTGTTCCAGGCCCTAAAGATTTG -3'
(R):5'- CAATAGTAAACTGGGCACATTTTCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation