Incidental Mutation 'R9721:Tut4'
| ID |
730777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut4
|
| Ensembl Gene |
ENSMUSG00000034610 |
| Gene Name |
terminal uridylyl transferase 4 |
| Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9721 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108412778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1493
(M1493K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
[ENSMUST00000128042]
|
| AlphaFold |
B2RX14 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043368
AA Change: M1488K
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: M1488K
| 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: M1493K
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: M1493K
| 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 |
probably benign
Transcript: ENSMUST00000128042
|
| SMART Domains |
Protein: ENSMUSP00000116253
Gene: ENSMUSG00000034610
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,212,932 (GRCm39) |
Y120N |
probably benign |
Het |
| AAdacl4fm3 |
A |
T |
4: 144,429,942 (GRCm39) |
V349D |
possibly damaging |
Het |
| Alox8 |
T |
A |
11: 69,087,911 (GRCm39) |
H131L |
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,252,087 (GRCm39) |
E588G |
probably damaging |
Het |
| AU040320 |
G |
A |
4: 126,733,441 (GRCm39) |
V654M |
probably damaging |
Het |
| Bicra |
A |
G |
7: 15,713,101 (GRCm39) |
L982P |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,406,257 (GRCm39) |
V72E |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,958,501 (GRCm39) |
T869A |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,254,893 (GRCm39) |
T27A |
unknown |
Het |
| Ddx19a |
A |
G |
8: 111,705,107 (GRCm39) |
F338S |
probably damaging |
Het |
| Dhrs7c |
T |
A |
11: 67,705,904 (GRCm39) |
V219E |
probably damaging |
Het |
| Dhx33 |
A |
G |
11: 70,892,424 (GRCm39) |
V115A |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,231,866 (GRCm39) |
D3153G |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,850,938 (GRCm39) |
S412T |
probably benign |
Het |
| Eif5b |
T |
C |
1: 38,076,740 (GRCm39) |
|
probably null |
Het |
| Ep300 |
A |
G |
15: 81,492,516 (GRCm39) |
N284S |
unknown |
Het |
| Fam83a |
A |
G |
15: 57,849,513 (GRCm39) |
N19S |
probably benign |
Het |
| Fgd5 |
A |
T |
6: 91,965,278 (GRCm39) |
T504S |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,535,260 (GRCm39) |
|
probably null |
Het |
| Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
| Gls |
A |
G |
1: 52,251,427 (GRCm39) |
V310A |
probably damaging |
Het |
| Gm5414 |
A |
T |
15: 101,536,582 (GRCm39) |
C14* |
probably null |
Het |
| Gm9887 |
C |
G |
12: 69,418,629 (GRCm39) |
A202P |
unknown |
Het |
| Ifi214 |
T |
C |
1: 173,355,479 (GRCm39) |
T110A |
possibly damaging |
Het |
| Il4i1 |
A |
G |
7: 44,489,113 (GRCm39) |
R293G |
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,383,063 (GRCm39) |
T1464S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,400 (GRCm39) |
S225P |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,855,330 (GRCm39) |
I678N |
probably damaging |
Het |
| Klf11 |
T |
A |
12: 24,710,240 (GRCm39) |
D429E |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,939,948 (GRCm39) |
T1581A |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,343,338 (GRCm39) |
N45D |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,924,623 (GRCm39) |
I1319V |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Malrd1 |
C |
T |
2: 15,701,638 (GRCm39) |
T751I |
unknown |
Het |
| Matcap1 |
A |
T |
8: 106,009,820 (GRCm39) |
D376E |
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,857,595 (GRCm39) |
L363P |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,436,738 (GRCm39) |
S535R |
possibly damaging |
Het |
| Nckap5 |
C |
T |
1: 125,955,017 (GRCm39) |
D512N |
probably damaging |
Het |
| Ngef |
T |
A |
1: 87,406,857 (GRCm39) |
D637V |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,030,313 (GRCm39) |
Y391H |
probably damaging |
Het |
| Or10j7 |
C |
A |
1: 173,011,915 (GRCm39) |
V29F |
probably benign |
Het |
| Or4c110 |
T |
C |
2: 88,832,060 (GRCm39) |
T191A |
|
Het |
| Or5b3 |
A |
T |
19: 13,388,334 (GRCm39) |
T134S |
probably benign |
Het |
| Pcdhb4 |
C |
A |
18: 37,442,905 (GRCm39) |
D738E |
possibly damaging |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Phactr3 |
G |
A |
2: 177,898,043 (GRCm39) |
E86K |
probably damaging |
Het |
| Psd |
C |
T |
19: 46,311,628 (GRCm39) |
D351N |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,472,154 (GRCm39) |
|
probably null |
Het |
| Rerg |
T |
A |
6: 137,033,415 (GRCm39) |
K106* |
probably null |
Het |
| Samd9l |
T |
C |
6: 3,375,854 (GRCm39) |
E469G |
possibly damaging |
Het |
| Smok2b |
C |
A |
17: 13,453,865 (GRCm39) |
Y8* |
probably null |
Het |
| Spata31e3 |
T |
C |
13: 50,400,688 (GRCm39) |
Y546C |
possibly damaging |
Het |
| Spn |
A |
G |
7: 126,735,437 (GRCm39) |
S357P |
probably benign |
Het |
| Tek |
T |
G |
4: 94,692,539 (GRCm39) |
W216G |
possibly damaging |
Het |
| Trpm3 |
A |
T |
19: 22,866,762 (GRCm39) |
H531L |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,807,336 (GRCm39) |
M1027V |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,818,616 (GRCm39) |
R1408* |
probably null |
Het |
| Unc13b |
A |
G |
4: 43,101,869 (GRCm39) |
N155D |
probably benign |
Het |
| Vmn1r52 |
G |
A |
6: 90,156,008 (GRCm39) |
C104Y |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,148,255 (GRCm39) |
E273V |
probably damaging |
Het |
| Zc3h4 |
C |
A |
7: 16,168,770 (GRCm39) |
Q1035K |
unknown |
Het |
| Zfp14 |
A |
T |
7: 29,738,609 (GRCm39) |
S125R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTCAGCCTTTTCCACAG -3'
(R):5'- TGTTCACCAGGGAATTGGGAG -3'
Sequencing Primer
(F):5'- GAATTCTCCCCAACCATCTGC -3'
(R):5'- AGGCCAGTGTCCATCGTGAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation