Incidental Mutation 'R5645:Tut4'
| ID |
441046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut4
|
| Ensembl Gene |
ENSMUSG00000034610 |
| Gene Name |
terminal uridylyl transferase 4 |
| Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
| MMRRC Submission |
043293-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5645 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108414570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 49
(R49H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
[ENSMUST00000128042]
|
| AlphaFold |
B2RX14 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043368
AA Change: R1588H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: R1588H
| 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: R1593H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: R1593H
| 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 damaging
Transcript: ENSMUST00000128042
AA Change: R49H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116253
Gene: ENSMUSG00000034610
AA Change: R49H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145590
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,403 (GRCm39) |
I169V |
probably damaging |
Het |
| 4930503B20Rik |
C |
T |
3: 146,356,264 (GRCm39) |
E215K |
probably damaging |
Het |
| Abca6 |
T |
C |
11: 110,141,234 (GRCm39) |
E29G |
probably damaging |
Het |
| Acsm1 |
A |
G |
7: 119,239,920 (GRCm39) |
H288R |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,277,506 (GRCm39) |
T707A |
possibly damaging |
Het |
| Adcy2 |
C |
A |
13: 68,877,321 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
A |
T |
4: 111,514,527 (GRCm39) |
I513F |
possibly damaging |
Het |
| Ak5 |
A |
T |
3: 152,361,670 (GRCm39) |
M84K |
possibly damaging |
Het |
| Akap1 |
T |
C |
11: 88,736,453 (GRCm39) |
T103A |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,100,590 (GRCm39) |
T2751A |
probably benign |
Het |
| Amer3 |
A |
T |
1: 34,627,462 (GRCm39) |
H567L |
possibly damaging |
Het |
| Ano6 |
A |
G |
15: 95,818,232 (GRCm39) |
Y325C |
probably benign |
Het |
| Apba2 |
A |
G |
7: 64,345,554 (GRCm39) |
E248G |
possibly damaging |
Het |
| Asap2 |
T |
A |
12: 21,315,983 (GRCm39) |
V967E |
probably damaging |
Het |
| Atosa |
T |
A |
9: 74,932,961 (GRCm39) |
V976E |
probably damaging |
Het |
| Boc |
A |
G |
16: 44,320,024 (GRCm39) |
V320A |
probably damaging |
Het |
| Car13 |
T |
A |
3: 14,710,180 (GRCm39) |
Y41N |
possibly damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,428,352 (GRCm39) |
T1976A |
probably benign |
Het |
| Cep295 |
C |
A |
9: 15,246,404 (GRCm39) |
S684I |
possibly damaging |
Het |
| Cep295 |
A |
T |
9: 15,244,090 (GRCm39) |
H1455Q |
probably damaging |
Het |
| Cr2 |
G |
T |
1: 194,836,581 (GRCm39) |
H861N |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,534,243 (GRCm39) |
I630V |
probably benign |
Het |
| Cyp2c37 |
G |
A |
19: 39,982,596 (GRCm39) |
V145I |
probably benign |
Het |
| Dnmt1 |
G |
A |
9: 20,833,443 (GRCm39) |
T500M |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,776,920 (GRCm39) |
T626A |
possibly damaging |
Het |
| Fam161a |
T |
A |
11: 22,965,725 (GRCm39) |
I6N |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,304,332 (GRCm39) |
V574A |
probably damaging |
Het |
| Glb1l3 |
G |
T |
9: 26,736,122 (GRCm39) |
L553I |
probably benign |
Het |
| Gm1123 |
T |
C |
9: 98,896,244 (GRCm39) |
D212G |
probably benign |
Het |
| Grin2a |
T |
A |
16: 9,810,090 (GRCm39) |
D103V |
probably damaging |
Het |
| Heg1 |
A |
G |
16: 33,527,333 (GRCm39) |
I98V |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,310,824 (GRCm39) |
T3356N |
possibly damaging |
Het |
| Hpf1 |
T |
G |
8: 61,349,834 (GRCm39) |
I154S |
possibly damaging |
Het |
| Ifnar2 |
A |
G |
16: 91,201,115 (GRCm39) |
D452G |
possibly damaging |
Het |
| Iqcc |
A |
T |
4: 129,510,320 (GRCm39) |
H398Q |
possibly damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,025,006 (GRCm39) |
I669T |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,020,074 (GRCm39) |
T859A |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,503 (GRCm39) |
M266V |
probably benign |
Het |
| Kbtbd3 |
A |
G |
9: 4,331,426 (GRCm39) |
D600G |
possibly damaging |
Het |
| Klf13 |
G |
A |
7: 63,541,348 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,742,278 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,109,943 (GRCm39) |
D2188G |
probably damaging |
Het |
| Leng8 |
A |
G |
7: 4,148,273 (GRCm39) |
T682A |
probably damaging |
Het |
| Mab21l4 |
T |
C |
1: 93,080,668 (GRCm39) |
T413A |
probably damaging |
Het |
| Mslnl |
G |
T |
17: 25,956,816 (GRCm39) |
G34V |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,426,044 (GRCm39) |
S2360R |
probably damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,426,051 (GRCm39) |
|
probably null |
Het |
| Nkx2-2 |
T |
C |
2: 147,026,319 (GRCm39) |
T140A |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,880,524 (GRCm39) |
V262A |
probably benign |
Het |
| Or4c125 |
A |
T |
2: 89,170,049 (GRCm39) |
V199E |
possibly damaging |
Het |
| Oser1 |
C |
T |
2: 163,248,965 (GRCm39) |
R79H |
probably damaging |
Het |
| Pfas |
A |
G |
11: 68,881,958 (GRCm39) |
V909A |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,396,388 (GRCm39) |
E1970G |
probably benign |
Het |
| Prph2 |
G |
T |
17: 47,221,593 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
G |
T |
4: 43,425,758 (GRCm39) |
A1288S |
probably benign |
Het |
| Scart2 |
G |
A |
7: 139,828,853 (GRCm39) |
V171I |
possibly damaging |
Het |
| Sdha |
A |
G |
13: 74,471,958 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
G |
2: 26,329,907 (GRCm39) |
T703P |
probably benign |
Het |
| Senp7 |
T |
A |
16: 55,993,571 (GRCm39) |
N724K |
possibly damaging |
Het |
| Skint1 |
A |
G |
4: 111,882,699 (GRCm39) |
I248V |
probably benign |
Het |
| Slc9a5 |
T |
C |
8: 106,083,645 (GRCm39) |
V395A |
probably benign |
Het |
| Slco1a4 |
T |
C |
6: 141,780,385 (GRCm39) |
N135S |
possibly damaging |
Het |
| Sncaip |
A |
G |
18: 53,028,028 (GRCm39) |
I412M |
probably damaging |
Het |
| Tacc2 |
A |
T |
7: 130,225,781 (GRCm39) |
D841V |
possibly damaging |
Het |
| Tekt1 |
A |
T |
11: 72,242,663 (GRCm39) |
H281Q |
probably benign |
Het |
| Tex46 |
G |
T |
4: 136,340,228 (GRCm39) |
M104I |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,114,454 (GRCm39) |
|
probably null |
Het |
| Treh |
A |
G |
9: 44,593,975 (GRCm39) |
Y154C |
probably damaging |
Het |
| Trim80 |
T |
A |
11: 115,337,611 (GRCm39) |
L428Q |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,830,968 (GRCm39) |
K1278E |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,325,024 (GRCm39) |
M990T |
possibly damaging |
Het |
| Vps9d1 |
A |
G |
8: 123,974,487 (GRCm39) |
S267P |
probably benign |
Het |
| Ywhae |
T |
C |
11: 75,647,750 (GRCm39) |
M160T |
probably benign |
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 |
|
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'- CCGAATTCTAGATTAGCCATCTTTGG -3'
(R):5'- TCAAGGCCTCCACTGAGATTC -3'
Sequencing Primer
(F):5'- GATTAGCCATCTTTGGTATAGCAG -3'
(R):5'- GCCTCCACTGAGATTCCCAGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation