Incidental Mutation 'IGL02799:Tut4'
ID |
392260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tut4
|
Ensembl Gene |
ENSMUSG00000034610 |
Gene Name |
terminal uridylyl transferase 4 |
Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02799 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108370725 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 875
(Y875H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
[ENSMUST00000155068]
|
AlphaFold |
B2RX14 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043368
AA Change: Y914H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000044836 Gene: ENSMUSG00000034610 AA Change: Y914H
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: Y914H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095538 Gene: ENSMUSG00000034610 AA Change: Y914H
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: ENSMUST00000142835
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155068
AA Change: Y875H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120172 Gene: ENSMUSG00000034610 AA Change: Y875H
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 |
|
Meta Mutation Damage Score |
0.0603 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
99% (67/68) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add2 |
A |
G |
6: 86,083,234 (GRCm39) |
N444S |
possibly damaging |
Het |
Atp2b2 |
A |
T |
6: 113,739,813 (GRCm39) |
Y823* |
probably null |
Het |
Atp2c1 |
A |
C |
9: 105,290,242 (GRCm39) |
|
probably benign |
Het |
Capns1 |
A |
T |
7: 29,891,644 (GRCm39) |
D133E |
probably benign |
Het |
Cast |
A |
G |
13: 74,884,871 (GRCm39) |
V361A |
probably damaging |
Het |
Cd69 |
G |
A |
6: 129,245,223 (GRCm39) |
|
probably benign |
Het |
Celsr2 |
T |
A |
3: 108,321,378 (GRCm39) |
D478V |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,391,849 (GRCm39) |
E661G |
probably damaging |
Het |
Chrna1 |
A |
G |
2: 73,404,985 (GRCm39) |
|
probably benign |
Het |
Clec5a |
C |
A |
6: 40,554,983 (GRCm39) |
V138F |
probably damaging |
Het |
Ctsj |
T |
A |
13: 61,151,634 (GRCm39) |
I95F |
probably benign |
Het |
Dcaf1 |
T |
A |
9: 106,735,139 (GRCm39) |
S696T |
probably benign |
Het |
Dcp1a |
T |
C |
14: 30,241,636 (GRCm39) |
|
probably null |
Het |
Dnajc14 |
C |
T |
10: 128,642,725 (GRCm39) |
P216S |
possibly damaging |
Het |
Dst |
T |
C |
1: 34,218,930 (GRCm39) |
I1790T |
possibly damaging |
Het |
Ehmt1 |
A |
T |
2: 24,705,818 (GRCm39) |
H789Q |
probably damaging |
Het |
Exoc7 |
A |
T |
11: 116,192,007 (GRCm39) |
L188Q |
probably damaging |
Het |
Faap100 |
A |
G |
11: 120,261,561 (GRCm39) |
L823P |
probably damaging |
Het |
Fdxacb1 |
T |
A |
9: 50,683,896 (GRCm39) |
S620T |
probably benign |
Het |
Fhl2 |
C |
T |
1: 43,167,562 (GRCm39) |
R177Q |
probably benign |
Het |
Gars1 |
C |
A |
6: 55,040,084 (GRCm39) |
T337K |
probably damaging |
Het |
Ggta1 |
A |
T |
2: 35,312,211 (GRCm39) |
F56I |
probably damaging |
Het |
Gm10715 |
A |
C |
9: 3,038,062 (GRCm39) |
|
probably benign |
Het |
Gpr108 |
T |
A |
17: 57,544,482 (GRCm39) |
I343F |
probably damaging |
Het |
Gpr12 |
T |
A |
5: 146,520,629 (GRCm39) |
I98F |
possibly damaging |
Het |
Hk2 |
A |
G |
6: 82,737,219 (GRCm39) |
L3P |
probably damaging |
Het |
Imp4 |
C |
A |
1: 34,479,258 (GRCm39) |
|
probably benign |
Het |
Insrr |
G |
A |
3: 87,720,888 (GRCm39) |
V1049M |
probably damaging |
Het |
Klhl24 |
T |
C |
16: 19,933,331 (GRCm39) |
V314A |
probably damaging |
Het |
Krt32 |
A |
T |
11: 99,978,733 (GRCm39) |
V107D |
possibly damaging |
Het |
Krtap5-1 |
G |
A |
7: 141,850,242 (GRCm39) |
Q189* |
probably null |
Het |
Lrrc9 |
A |
G |
12: 72,553,178 (GRCm39) |
E1360G |
probably damaging |
Het |
Mdc1 |
G |
T |
17: 36,157,083 (GRCm39) |
L163F |
possibly damaging |
Het |
Mroh1 |
T |
G |
15: 76,276,661 (GRCm39) |
|
probably null |
Het |
Myh8 |
A |
G |
11: 67,192,418 (GRCm39) |
|
probably benign |
Het |
Ndufab1 |
A |
T |
7: 121,692,949 (GRCm39) |
|
probably benign |
Het |
Nek3 |
A |
G |
8: 22,648,735 (GRCm39) |
|
probably benign |
Het |
Ngly1 |
A |
T |
14: 16,260,636 (GRCm38) |
I107L |
probably benign |
Het |
Nkain4 |
A |
T |
2: 180,577,728 (GRCm39) |
|
probably null |
Het |
Nsd2 |
T |
A |
5: 34,022,132 (GRCm39) |
|
probably benign |
Het |
Or4n4 |
A |
G |
14: 50,518,801 (GRCm39) |
I303T |
probably benign |
Het |
Or5e1 |
A |
T |
7: 108,354,830 (GRCm39) |
M256L |
probably benign |
Het |
Or5t9 |
A |
T |
2: 86,659,300 (GRCm39) |
H68L |
probably damaging |
Het |
Or7e166 |
T |
A |
9: 19,624,314 (GRCm39) |
Y64N |
probably damaging |
Het |
Or8b12 |
T |
A |
9: 37,657,805 (GRCm39) |
I125N |
probably damaging |
Het |
Pcnt |
G |
A |
10: 76,248,417 (GRCm39) |
Q901* |
probably null |
Het |
Pctp |
C |
A |
11: 89,881,913 (GRCm39) |
W81C |
probably damaging |
Het |
Pik3r5 |
A |
T |
11: 68,386,773 (GRCm39) |
I801F |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,299,942 (GRCm39) |
N193K |
probably benign |
Het |
Rab11fip1 |
A |
T |
8: 27,642,788 (GRCm39) |
D670E |
probably benign |
Het |
Racgap1 |
T |
C |
15: 99,530,628 (GRCm39) |
K201E |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,316,086 (GRCm39) |
F2269L |
probably damaging |
Het |
Rint1 |
C |
A |
5: 24,024,478 (GRCm39) |
A760D |
possibly damaging |
Het |
Ryr2 |
G |
A |
13: 11,680,848 (GRCm39) |
P3166S |
probably damaging |
Het |
Snap29 |
A |
G |
16: 17,240,367 (GRCm39) |
N158D |
probably benign |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
St6galnac1 |
G |
T |
11: 116,657,473 (GRCm39) |
|
probably benign |
Het |
Strc |
G |
A |
2: 121,209,717 (GRCm39) |
T202I |
probably damaging |
Het |
Stxbp4 |
A |
G |
11: 90,385,426 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
T |
10: 5,309,059 (GRCm39) |
M650K |
probably damaging |
Het |
Tbc1d2b |
C |
T |
9: 90,105,487 (GRCm39) |
|
probably benign |
Het |
Tcfl5 |
A |
T |
2: 180,280,419 (GRCm39) |
I328N |
possibly damaging |
Het |
Tenm2 |
A |
G |
11: 36,164,235 (GRCm39) |
Y337H |
probably damaging |
Het |
Tgfbr2 |
T |
C |
9: 115,939,204 (GRCm39) |
K233E |
possibly damaging |
Het |
Tnk2 |
T |
C |
16: 32,484,699 (GRCm39) |
|
probably benign |
Het |
Trbv13-2 |
A |
G |
6: 41,098,471 (GRCm39) |
|
probably benign |
Het |
Usp6nl |
T |
A |
2: 6,432,360 (GRCm39) |
|
probably benign |
Het |
Vmn2r62 |
A |
G |
7: 42,437,396 (GRCm39) |
S363P |
possibly damaging |
Het |
Vnn3 |
T |
C |
10: 23,727,869 (GRCm39) |
I93T |
possibly damaging |
Het |
Ylpm1 |
A |
G |
12: 85,091,258 (GRCm39) |
D1108G |
probably damaging |
Het |
Zbtb17 |
G |
A |
4: 141,190,691 (GRCm39) |
G170S |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,320,084 (GRCm39) |
E1087G |
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 |
|
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 |
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'- CCCTGATGGAGCTGAATCTG -3'
(R):5'- GTGCCAACTACAAATGGAGC -3'
Sequencing Primer
(F):5'- TGGAGCTGAATCTGCTGGAAC -3'
(R):5'- GGAGATCTGGTATTCTCACACAGAC -3'
|
Posted On |
2016-06-09 |