Incidental Mutation 'R5661:Tut4'
ID |
444079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tut4
|
Ensembl Gene |
ENSMUSG00000034610 |
Gene Name |
terminal uridylyl transferase 4 |
Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
MMRRC Submission |
043304-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5661 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108370384 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 761
(D761G)
|
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: D800G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000044836 Gene: ENSMUSG00000034610 AA Change: D800G
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: D800G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000095538 Gene: ENSMUSG00000034610 AA Change: D800G
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: D761G
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000120172 Gene: ENSMUSG00000034610 AA Change: D761G
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
97% (57/59) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actg2 |
A |
G |
6: 83,497,754 (GRCm39) |
I166T |
probably damaging |
Het |
Actn1 |
T |
C |
12: 80,231,618 (GRCm39) |
E273G |
probably benign |
Het |
Arhgap15 |
G |
A |
2: 44,212,739 (GRCm39) |
R403H |
possibly damaging |
Het |
Arhgef26 |
T |
C |
3: 62,285,075 (GRCm39) |
|
probably benign |
Het |
Avl9 |
A |
T |
6: 56,702,087 (GRCm39) |
R81* |
probably null |
Het |
Brd3 |
G |
A |
2: 27,351,584 (GRCm39) |
T223I |
possibly damaging |
Het |
Cacna2d4 |
T |
C |
6: 119,320,492 (GRCm39) |
M890T |
probably benign |
Het |
Carm1 |
A |
G |
9: 21,498,295 (GRCm39) |
D433G |
probably benign |
Het |
Ccdc40 |
A |
G |
11: 119,128,753 (GRCm39) |
K427E |
probably benign |
Het |
Ccdc80 |
T |
C |
16: 44,947,808 (GRCm39) |
Y929H |
probably damaging |
Het |
Ccr9 |
A |
C |
9: 123,609,164 (GRCm39) |
Y282S |
probably benign |
Het |
Det1 |
C |
T |
7: 78,492,958 (GRCm39) |
E349K |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,070,406 (GRCm39) |
N834Y |
probably damaging |
Het |
Epha7 |
A |
T |
4: 28,946,217 (GRCm39) |
|
probably null |
Het |
Fap |
A |
T |
2: 62,367,307 (GRCm39) |
|
probably benign |
Het |
Foxn4 |
A |
G |
5: 114,411,053 (GRCm39) |
C23R |
probably benign |
Het |
Gad1-ps |
T |
C |
10: 99,280,901 (GRCm39) |
|
noncoding transcript |
Het |
Gli2 |
C |
A |
1: 118,781,032 (GRCm39) |
E238* |
probably null |
Het |
Gm20939 |
C |
A |
17: 95,183,207 (GRCm39) |
H148N |
probably damaging |
Het |
Gnl1 |
T |
C |
17: 36,293,447 (GRCm39) |
Y211H |
probably benign |
Het |
Gpat3 |
A |
T |
5: 101,033,808 (GRCm39) |
K221* |
probably null |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Hnrnph1 |
A |
T |
11: 50,275,507 (GRCm39) |
Q415L |
probably benign |
Het |
Kansl3 |
T |
C |
1: 36,388,038 (GRCm39) |
E383G |
possibly damaging |
Het |
Kdm5b |
T |
C |
1: 134,526,811 (GRCm39) |
V311A |
probably benign |
Het |
Lipk |
T |
A |
19: 34,009,727 (GRCm39) |
M215K |
probably benign |
Het |
Madd |
A |
G |
2: 90,984,778 (GRCm39) |
|
probably null |
Het |
Meltf |
A |
G |
16: 31,700,744 (GRCm39) |
E88G |
possibly damaging |
Het |
Mis18bp1 |
A |
T |
12: 65,195,626 (GRCm39) |
S713T |
probably benign |
Het |
Mocos |
T |
A |
18: 24,799,052 (GRCm39) |
|
probably null |
Het |
Msto1 |
T |
A |
3: 88,820,192 (GRCm39) |
D88V |
possibly damaging |
Het |
Myo5a |
A |
G |
9: 75,074,488 (GRCm39) |
Y799C |
probably benign |
Het |
Nectin4 |
T |
A |
1: 171,212,738 (GRCm39) |
L357H |
probably damaging |
Het |
Or4p22 |
G |
A |
2: 88,317,441 (GRCm39) |
V122M |
probably damaging |
Het |
Or6c2 |
A |
T |
10: 129,362,618 (GRCm39) |
H174L |
probably benign |
Het |
Pax2 |
A |
G |
19: 44,779,161 (GRCm39) |
N179S |
probably damaging |
Het |
Pcdhac2 |
C |
A |
18: 37,278,499 (GRCm39) |
T493K |
probably damaging |
Het |
Pgk2 |
G |
T |
17: 40,518,287 (GRCm39) |
C380* |
probably null |
Het |
Pi4k2b |
G |
A |
5: 52,900,906 (GRCm39) |
|
probably null |
Het |
Plcb3 |
A |
G |
19: 6,940,588 (GRCm39) |
V416A |
probably damaging |
Het |
Pom121l2 |
G |
A |
13: 22,168,425 (GRCm39) |
G899R |
possibly damaging |
Het |
Ppp4r1 |
T |
C |
17: 66,110,963 (GRCm39) |
|
probably null |
Het |
Prkdc |
G |
A |
16: 15,628,634 (GRCm39) |
E3460K |
possibly damaging |
Het |
Psmb3 |
A |
G |
11: 97,597,659 (GRCm39) |
E75G |
possibly damaging |
Het |
Retnlb |
C |
T |
16: 48,638,429 (GRCm39) |
T50I |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,329,649 (GRCm39) |
S789P |
probably benign |
Het |
Sec24d |
C |
T |
3: 123,136,734 (GRCm39) |
T489I |
probably damaging |
Het |
Sec24d |
T |
C |
3: 123,136,791 (GRCm39) |
M508T |
possibly damaging |
Het |
Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
Terf1 |
T |
A |
1: 15,889,888 (GRCm39) |
V221E |
probably damaging |
Het |
Trak1 |
A |
G |
9: 121,272,703 (GRCm39) |
N187S |
possibly damaging |
Het |
Trappc11 |
T |
A |
8: 47,965,642 (GRCm39) |
D528V |
probably damaging |
Het |
Vmn1r170 |
A |
G |
7: 23,306,231 (GRCm39) |
N211S |
possibly damaging |
Het |
Zfpm2 |
G |
A |
15: 40,959,467 (GRCm39) |
W50* |
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 |
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 |
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'- TTTTGCCTGTCCTCAAAAGAAGG -3'
(R):5'- AGGGGTCCCAATGCAAATAC -3'
Sequencing Primer
(F):5'- GGTGGAAATAAATCTACAATGGATCC -3'
(R):5'- TGCAAATACACTGGCTGAGTTCC -3'
|
Posted On |
2016-11-09 |