Incidental Mutation 'R2251:Tut4'
ID |
241662 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tut4
|
Ensembl Gene |
ENSMUSG00000034610 |
Gene Name |
terminal uridylyl transferase 4 |
Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
MMRRC Submission |
040251-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2251 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 108377405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 938
(D938E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
[ENSMUST00000155068]
|
AlphaFold |
B2RX14 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043368
AA Change: D977E
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000044836 Gene: ENSMUSG00000034610 AA Change: D977E
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: D977E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000095538 Gene: ENSMUSG00000034610 AA Change: D977E
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 damaging
Transcript: ENSMUST00000155068
AA Change: D938E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000120172 Gene: ENSMUSG00000034610 AA Change: D938E
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157089
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
G |
A |
14: 59,380,061 (GRCm39) |
S79F |
probably damaging |
Het |
Abl1 |
T |
A |
2: 31,669,131 (GRCm39) |
V170E |
probably damaging |
Het |
Akap13 |
C |
T |
7: 75,389,225 (GRCm39) |
T2381M |
possibly damaging |
Het |
Armc8 |
T |
A |
9: 99,384,653 (GRCm39) |
|
probably null |
Het |
B3gnt3 |
A |
T |
8: 72,145,462 (GRCm39) |
M302K |
probably damaging |
Het |
Casp3 |
G |
T |
8: 47,090,990 (GRCm39) |
W214L |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,489,814 (GRCm39) |
V463A |
probably benign |
Het |
Cntn2 |
T |
C |
1: 132,453,059 (GRCm39) |
E411G |
probably damaging |
Het |
Dgkg |
A |
T |
16: 22,441,010 (GRCm39) |
M1K |
probably null |
Het |
Faap20 |
A |
C |
4: 155,335,010 (GRCm39) |
E37A |
possibly damaging |
Het |
Fam186a |
T |
C |
15: 99,842,978 (GRCm39) |
T1089A |
probably benign |
Het |
Fgb |
T |
G |
3: 82,950,591 (GRCm39) |
T388P |
probably damaging |
Het |
Fndc1 |
G |
A |
17: 7,972,439 (GRCm39) |
R1498W |
probably damaging |
Het |
Gch1 |
T |
C |
14: 47,426,798 (GRCm39) |
|
probably benign |
Het |
Gzf1 |
T |
C |
2: 148,525,856 (GRCm39) |
M109T |
probably damaging |
Het |
H2-M10.1 |
A |
C |
17: 36,636,498 (GRCm39) |
L102R |
probably damaging |
Het |
Kpna1 |
T |
C |
16: 35,841,939 (GRCm39) |
Y280H |
possibly damaging |
Het |
Mbtps2 |
A |
T |
X: 156,342,029 (GRCm39) |
F270L |
probably benign |
Het |
Mrpl40 |
T |
C |
16: 18,694,125 (GRCm39) |
H29R |
probably benign |
Het |
N4bp2 |
G |
A |
5: 65,964,071 (GRCm39) |
V707I |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,103,025 (GRCm39) |
K608E |
probably damaging |
Het |
Nfix |
T |
C |
8: 85,442,799 (GRCm39) |
D458G |
probably benign |
Het |
Ngdn |
T |
C |
14: 55,260,852 (GRCm39) |
|
probably null |
Het |
Nr3c1 |
G |
T |
18: 39,619,804 (GRCm39) |
T161K |
probably benign |
Het |
Or2n1e |
C |
T |
17: 38,585,794 (GRCm39) |
A44V |
probably benign |
Het |
Or4g16 |
A |
G |
2: 111,136,655 (GRCm39) |
Y35C |
probably damaging |
Het |
Or52e15 |
A |
T |
7: 104,645,802 (GRCm39) |
M103K |
probably damaging |
Het |
Or5ak20 |
A |
G |
2: 85,184,202 (GRCm39) |
S23P |
possibly damaging |
Het |
Pbld2 |
G |
T |
10: 62,860,384 (GRCm39) |
|
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,784,177 (GRCm39) |
Y700C |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,554,246 (GRCm39) |
N69S |
probably benign |
Het |
Pwp2 |
T |
A |
10: 78,016,922 (GRCm39) |
Q266L |
probably benign |
Het |
Rnf133 |
T |
C |
6: 23,649,174 (GRCm39) |
M252V |
probably benign |
Het |
Scn8a |
A |
G |
15: 100,914,987 (GRCm39) |
I1184V |
probably benign |
Het |
Slc7a2 |
T |
C |
8: 41,358,658 (GRCm39) |
Y334H |
probably benign |
Het |
Smim11 |
T |
C |
16: 92,107,716 (GRCm39) |
Y14H |
probably benign |
Het |
Spata17 |
A |
T |
1: 186,780,670 (GRCm39) |
L359Q |
possibly damaging |
Het |
Spn |
T |
C |
7: 126,736,331 (GRCm39) |
K59E |
probably benign |
Het |
Tap2 |
A |
G |
17: 34,430,928 (GRCm39) |
S343G |
probably damaging |
Het |
Tcp11l2 |
T |
C |
10: 84,440,933 (GRCm39) |
|
probably null |
Het |
Tlr11 |
T |
A |
14: 50,598,249 (GRCm39) |
N78K |
probably benign |
Het |
Tm9sf2 |
T |
A |
14: 122,377,143 (GRCm39) |
S224T |
probably benign |
Het |
Trpm1 |
G |
A |
7: 63,859,724 (GRCm39) |
G261D |
probably damaging |
Het |
Usp3 |
T |
C |
9: 66,469,860 (GRCm39) |
D87G |
probably damaging |
Het |
Vmn1r189 |
T |
C |
13: 22,286,718 (GRCm39) |
K40E |
probably damaging |
Het |
Vps45 |
A |
T |
3: 95,964,352 (GRCm39) |
D56E |
probably benign |
Het |
Vstm2a |
C |
A |
11: 16,318,273 (GRCm39) |
Q231K |
probably benign |
Het |
Zfp575 |
A |
T |
7: 24,285,015 (GRCm39) |
C209S |
probably damaging |
Het |
Zfp768 |
T |
C |
7: 126,943,550 (GRCm39) |
T193A |
probably benign |
Het |
Zfp867 |
T |
A |
11: 59,356,319 (GRCm39) |
R38* |
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 |
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'- TGCGTTGGTAACTGAACCTG -3'
(R):5'- CTGTTATTAGTAACACAGCCACAG -3'
Sequencing Primer
(F):5'- CGTTGGTAACTGAACCTGTTGAG -3'
(R):5'- TAACACAGCCACAGAGACTAAAATAG -3'
|
Posted On |
2014-10-16 |