Incidental Mutation 'R2034:Tut4'
| ID |
224303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut4
|
| Ensembl Gene |
ENSMUSG00000034610 |
| Gene Name |
terminal uridylyl transferase 4 |
| Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
| MMRRC Submission |
040041-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2034 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108369392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 651
(R651W)
|
| 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: R690W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: R690W
| 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: R690W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: R690W
| 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: R651W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120172
Gene: ENSMUSG00000034610
AA Change: R651W
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (71/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
T |
C |
11: 69,791,385 (GRCm39) |
I65V |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,242,628 (GRCm39) |
N1497S |
possibly damaging |
Het |
| Afmid |
C |
A |
11: 117,726,061 (GRCm39) |
N184K |
probably benign |
Het |
| Ampd2 |
A |
T |
3: 107,984,679 (GRCm39) |
I459N |
possibly damaging |
Het |
| Anapc1 |
T |
C |
2: 128,490,378 (GRCm39) |
D1018G |
possibly damaging |
Het |
| Ano9 |
T |
A |
7: 140,688,048 (GRCm39) |
I223F |
probably damaging |
Het |
| B3gnt6 |
A |
G |
7: 97,843,225 (GRCm39) |
L245P |
possibly damaging |
Het |
| Bag6 |
G |
A |
17: 35,363,668 (GRCm39) |
R784Q |
probably damaging |
Het |
| Brca1 |
C |
G |
11: 101,380,675 (GRCm39) |
S1786T |
probably benign |
Het |
| Btbd3 |
T |
G |
2: 138,120,903 (GRCm39) |
S26A |
probably benign |
Het |
| Cacna1d |
C |
A |
14: 29,811,820 (GRCm39) |
V1277L |
probably damaging |
Het |
| Casp12 |
C |
T |
9: 5,346,491 (GRCm39) |
T6I |
probably damaging |
Het |
| Col7a1 |
T |
C |
9: 108,792,075 (GRCm39) |
V1262A |
unknown |
Het |
| Crh |
C |
A |
3: 19,748,262 (GRCm39) |
G127C |
probably damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,770,882 (GRCm39) |
L64* |
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Ddc |
T |
A |
11: 11,830,456 (GRCm39) |
I63L |
probably benign |
Het |
| Eif3a |
C |
T |
19: 60,750,568 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,819,838 (GRCm39) |
N5190K |
probably benign |
Het |
| Gm5420 |
A |
G |
10: 21,567,512 (GRCm39) |
|
noncoding transcript |
Het |
| Grb14 |
A |
G |
2: 64,753,873 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
T |
5: 21,475,593 (GRCm39) |
I545F |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,803,899 (GRCm39) |
|
probably null |
Het |
| Helz2 |
G |
A |
2: 180,874,371 (GRCm39) |
P2041L |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,349,254 (GRCm39) |
A2038T |
probably benign |
Het |
| Il10 |
C |
A |
1: 130,951,922 (GRCm39) |
Q152K |
probably benign |
Het |
| Klrg1 |
A |
G |
6: 122,256,596 (GRCm39) |
|
probably null |
Het |
| Lrig2 |
T |
C |
3: 104,401,408 (GRCm39) |
T160A |
probably benign |
Het |
| Mmd2 |
A |
T |
5: 142,560,939 (GRCm39) |
|
probably null |
Het |
| Mmp2 |
C |
T |
8: 93,563,540 (GRCm39) |
S338F |
probably damaging |
Het |
| Nalcn |
T |
G |
14: 123,521,015 (GRCm39) |
D1630A |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,235,207 (GRCm39) |
S909G |
probably benign |
Het |
| Neb |
A |
T |
2: 52,170,623 (GRCm39) |
M1683K |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,435,350 (GRCm39) |
I637V |
possibly damaging |
Het |
| Npw |
G |
A |
17: 24,877,242 (GRCm39) |
S53F |
probably damaging |
Het |
| Nrbf2 |
A |
T |
10: 67,111,343 (GRCm39) |
|
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,200,097 (GRCm39) |
|
probably benign |
Het |
| Or4k15c |
T |
C |
14: 50,321,440 (GRCm39) |
M233V |
probably benign |
Het |
| Or5b21 |
T |
A |
19: 12,839,151 (GRCm39) |
M4K |
possibly damaging |
Het |
| Parp4 |
A |
T |
14: 56,871,720 (GRCm39) |
I1133F |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,546 (GRCm39) |
V292A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,545,406 (GRCm39) |
|
probably null |
Het |
| Phf2 |
A |
G |
13: 48,971,206 (GRCm39) |
S489P |
unknown |
Het |
| Pik3r5 |
T |
A |
11: 68,384,403 (GRCm39) |
N598K |
probably damaging |
Het |
| Pikfyve |
A |
T |
1: 65,261,516 (GRCm39) |
E432D |
probably damaging |
Het |
| Pink1 |
T |
C |
4: 138,045,343 (GRCm39) |
I274V |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,270,893 (GRCm39) |
T3220I |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,462,902 (GRCm39) |
I890V |
probably benign |
Het |
| Pomgnt1 |
T |
C |
4: 116,015,124 (GRCm39) |
V492A |
possibly damaging |
Het |
| Prp2 |
G |
T |
6: 132,572,947 (GRCm39) |
|
probably null |
Het |
| Rabl6 |
T |
C |
2: 25,475,444 (GRCm39) |
E543G |
possibly damaging |
Het |
| Rgp1 |
T |
A |
4: 43,581,605 (GRCm39) |
|
probably null |
Het |
| Rps6kb2 |
T |
C |
19: 4,211,106 (GRCm39) |
T140A |
probably damaging |
Het |
| S100a11 |
T |
C |
3: 93,433,429 (GRCm39) |
I91T |
probably benign |
Het |
| Serpine2 |
A |
G |
1: 79,774,569 (GRCm39) |
L230P |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,120,737 (GRCm39) |
D370G |
probably damaging |
Het |
| Sim2 |
A |
C |
16: 93,886,801 (GRCm39) |
I43L |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,226,798 (GRCm39) |
L419P |
probably damaging |
Het |
| Srgap1 |
C |
T |
10: 121,628,651 (GRCm39) |
E817K |
probably damaging |
Het |
| Stag3 |
A |
G |
5: 138,296,263 (GRCm39) |
E442G |
possibly damaging |
Het |
| Sulf1 |
A |
G |
1: 12,890,645 (GRCm39) |
N361S |
probably damaging |
Het |
| Tmco6 |
A |
G |
18: 36,870,909 (GRCm39) |
|
probably null |
Het |
| Tmem104 |
T |
A |
11: 115,134,373 (GRCm39) |
I303N |
probably benign |
Het |
| Ttll6 |
G |
T |
11: 96,026,352 (GRCm39) |
D86Y |
probably damaging |
Het |
| Vmn1r120 |
T |
G |
7: 20,786,883 (GRCm39) |
E276A |
possibly damaging |
Het |
| Vmn1r64 |
A |
G |
7: 5,886,988 (GRCm39) |
M185T |
probably benign |
Het |
| Vmn2r85 |
A |
T |
10: 130,262,242 (GRCm39) |
|
probably benign |
Het |
| Vwa3a |
A |
T |
7: 120,381,868 (GRCm39) |
K568* |
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 |
|
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'- AAGTGCTTTCTTTATGCCTGAC -3'
(R):5'- TGTGCTTCCCTGATACACAGTC -3'
Sequencing Primer
(F):5'- AATCAGGTACCCTTGGGAC -3'
(R):5'- CCCAAGTGCTGTAATTGCAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation