Incidental Mutation 'R7369:Tut7'
| ID |
572029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut7
|
| Ensembl Gene |
ENSMUSG00000035248 |
| Gene Name |
terminal uridylyl transferase 7 |
| Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
| MMRRC Submission |
045453-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.796)
|
| Stock # |
R7369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59929867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1458
(I1458T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071703]
[ENSMUST00000224480]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071703
AA Change: I1458T
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: I1458T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
190 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
244 |
268 |
2.61e1 |
SMART |
|
SCOP:d1f5aa2
|
284 |
497 |
4e-25 |
SMART |
|
low complexity region
|
522 |
534 |
N/A |
INTRINSIC |
|
Pfam:PAP_assoc
|
550 |
603 |
6.7e-14 |
PFAM |
|
low complexity region
|
811 |
825 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
857 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
898 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
960 |
976 |
3.3e-3 |
SMART |
|
Pfam:NTP_transf_2
|
1022 |
1134 |
4e-8 |
PFAM |
|
Pfam:PAP_assoc
|
1229 |
1282 |
1.7e-17 |
PFAM |
|
ZnF_C2HC
|
1342 |
1358 |
2.09e-3 |
SMART |
|
Pfam:TUTF7_u4
|
1359 |
1446 |
1.6e-42 |
PFAM |
|
ZnF_C2HC
|
1448 |
1464 |
1.06e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224480
AA Change: I1056T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
C |
T |
7: 29,989,377 (GRCm39) |
L196F |
unknown |
Het |
| Ahr |
A |
T |
12: 35,554,659 (GRCm39) |
W487R |
possibly damaging |
Het |
| Apaf1 |
A |
G |
10: 90,836,898 (GRCm39) |
S1060P |
probably damaging |
Het |
| Atf7 |
G |
T |
15: 102,462,244 (GRCm39) |
P126H |
probably damaging |
Het |
| B3gnt5 |
C |
A |
16: 19,588,410 (GRCm39) |
Q210K |
probably benign |
Het |
| Begain |
T |
C |
12: 108,999,853 (GRCm39) |
Y306C |
possibly damaging |
Het |
| Car5a |
T |
C |
8: 122,650,573 (GRCm39) |
K157R |
probably benign |
Het |
| Car5b |
A |
C |
X: 162,797,836 (GRCm39) |
S35R |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,042,724 (GRCm39) |
V478A |
probably damaging |
Het |
| Cdyl |
A |
G |
13: 35,999,992 (GRCm39) |
E91G |
probably damaging |
Het |
| Cep135 |
A |
C |
5: 76,741,100 (GRCm39) |
K59Q |
possibly damaging |
Het |
| Clec2m |
T |
A |
6: 129,308,496 (GRCm39) |
Q11L |
possibly damaging |
Het |
| Cnot3 |
T |
A |
7: 3,656,330 (GRCm39) |
D205E |
possibly damaging |
Het |
| Dgkd |
G |
A |
1: 87,849,344 (GRCm39) |
G379R |
probably damaging |
Het |
| Dppa1 |
T |
A |
11: 46,506,944 (GRCm39) |
|
probably null |
Het |
| Dsp |
G |
T |
13: 38,381,501 (GRCm39) |
V2749F |
possibly damaging |
Het |
| E2f4 |
A |
G |
8: 106,026,966 (GRCm39) |
K177E |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,008,661 (GRCm39) |
P819L |
possibly damaging |
Het |
| Ercc5 |
T |
A |
1: 44,220,020 (GRCm39) |
S1097R |
probably benign |
Het |
| Erp44 |
T |
C |
4: 48,218,183 (GRCm39) |
N162S |
probably benign |
Het |
| Evl |
A |
G |
12: 108,652,824 (GRCm39) |
Y423C |
unknown |
Het |
| Fam78a |
T |
A |
2: 31,959,699 (GRCm39) |
N137I |
probably damaging |
Het |
| Fcrl2 |
T |
C |
3: 87,164,008 (GRCm39) |
N374D |
possibly damaging |
Het |
| Fcrla |
T |
G |
1: 170,749,886 (GRCm39) |
D57A |
probably benign |
Het |
| Gm7145 |
A |
T |
1: 117,913,838 (GRCm39) |
H240L |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,408,965 (GRCm39) |
N1549K |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 87,048,391 (GRCm39) |
R9H |
probably benign |
Het |
| Klf7 |
T |
C |
1: 64,160,300 (GRCm39) |
|
probably null |
Het |
| Lce1d |
G |
A |
3: 92,593,390 (GRCm39) |
Q8* |
probably null |
Het |
| Lcn4 |
T |
C |
2: 26,557,906 (GRCm39) |
H180R |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,359,301 (GRCm39) |
Y283F |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,172,051 (GRCm39) |
R1646K |
|
Het |
| Map3k21 |
C |
A |
8: 126,637,855 (GRCm39) |
A147E |
possibly damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,338,454 (GRCm39) |
S11P |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,773,375 (GRCm39) |
F5518L |
probably damaging |
Het |
| Msh3 |
T |
A |
13: 92,435,770 (GRCm39) |
T510S |
probably benign |
Het |
| Myh1 |
A |
T |
11: 67,111,524 (GRCm39) |
Q1654H |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,968,747 (GRCm39) |
V506A |
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,642,209 (GRCm39) |
S70P |
probably damaging |
Het |
| Nmi |
T |
C |
2: 51,840,096 (GRCm39) |
D215G |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,895,449 (GRCm39) |
S496P |
probably damaging |
Het |
| Nrp1 |
T |
A |
8: 129,158,396 (GRCm39) |
C228S |
probably damaging |
Het |
| Or6c5c |
A |
T |
10: 129,299,390 (GRCm39) |
M282L |
probably benign |
Het |
| Pcdh9 |
C |
A |
14: 94,123,803 (GRCm39) |
R789L |
possibly damaging |
Het |
| Pigr |
A |
T |
1: 130,769,503 (GRCm39) |
T105S |
probably benign |
Het |
| Polr2a |
A |
C |
11: 69,636,803 (GRCm39) |
S383A |
probably benign |
Het |
| Prr35 |
G |
A |
17: 26,166,934 (GRCm39) |
S201L |
probably damaging |
Het |
| Psd3 |
T |
A |
8: 68,356,818 (GRCm39) |
H634L |
possibly damaging |
Het |
| Ptgr2 |
T |
G |
12: 84,339,080 (GRCm39) |
|
probably benign |
Het |
| Ptk6 |
A |
G |
2: 180,840,254 (GRCm39) |
Y251H |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,321,294 (GRCm39) |
T1251A |
|
Het |
| Rtkn2 |
A |
G |
10: 67,877,259 (GRCm39) |
K443E |
probably damaging |
Het |
| Rundc3a |
T |
A |
11: 102,290,721 (GRCm39) |
L268Q |
probably damaging |
Het |
| Serpinb5 |
A |
G |
1: 106,802,879 (GRCm39) |
E138G |
probably benign |
Het |
| Shroom1 |
A |
T |
11: 53,356,075 (GRCm39) |
D375V |
probably benign |
Het |
| Siglecf |
A |
G |
7: 43,001,241 (GRCm39) |
T70A |
probably damaging |
Het |
| Slc20a2 |
A |
T |
8: 23,051,416 (GRCm39) |
E483V |
probably benign |
Het |
| Slc49a3 |
A |
G |
5: 108,593,394 (GRCm39) |
V148A |
probably benign |
Het |
| Sort1 |
G |
A |
3: 108,258,996 (GRCm39) |
G676D |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,584,293 (GRCm39) |
S1581G |
probably benign |
Het |
| Stx6 |
C |
T |
1: 155,073,130 (GRCm39) |
R214* |
probably null |
Het |
| Stxbp5l |
A |
G |
16: 36,954,703 (GRCm39) |
I950T |
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,013,239 (GRCm39) |
C660S |
possibly damaging |
Het |
| Tgm4 |
T |
A |
9: 122,885,749 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
T |
C |
4: 12,053,535 (GRCm39) |
Y671C |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,719,717 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
G |
7: 33,850,239 (GRCm39) |
S405P |
possibly damaging |
Het |
| Usp34 |
T |
C |
11: 23,382,361 (GRCm39) |
I2043T |
|
Het |
| Vmn1r12 |
T |
A |
6: 57,136,683 (GRCm39) |
I260N |
possibly damaging |
Het |
| Vmn1r172 |
C |
T |
7: 23,360,030 (GRCm39) |
T305I |
unknown |
Het |
| Vmn2r24 |
T |
C |
6: 123,792,638 (GRCm39) |
V655A |
probably damaging |
Het |
| Wdr33 |
T |
C |
18: 32,019,719 (GRCm39) |
S464P |
probably benign |
Het |
| Zfp260 |
T |
A |
7: 29,804,750 (GRCm39) |
C217S |
probably damaging |
Het |
| Zfp760 |
A |
G |
17: 21,942,214 (GRCm39) |
E463G |
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,916,696 (GRCm39) |
Y517H |
probably damaging |
Het |
|
| Other mutations in Tut7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Tut7
|
APN |
13 |
59,964,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01361:Tut7
|
APN |
13 |
59,933,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02002:Tut7
|
APN |
13 |
59,929,910 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02015:Tut7
|
APN |
13 |
59,937,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02029:Tut7
|
APN |
13 |
59,932,702 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02216:Tut7
|
APN |
13 |
59,948,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02705:Tut7
|
APN |
13 |
59,937,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02742:Tut7
|
APN |
13 |
59,964,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02810:Tut7
|
APN |
13 |
59,929,830 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02942:Tut7
|
APN |
13 |
59,959,335 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03104:Tut7
|
APN |
13 |
59,962,717 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0025:Tut7
|
UTSW |
13 |
59,953,142 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0025:Tut7
|
UTSW |
13 |
59,953,142 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0153:Tut7
|
UTSW |
13 |
59,930,150 (GRCm39) |
nonsense |
probably null |
|
|
R0269:Tut7
|
UTSW |
13 |
59,964,669 (GRCm39) |
splice site |
probably null |
|
|
R0358:Tut7
|
UTSW |
13 |
59,929,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0555:Tut7
|
UTSW |
13 |
59,948,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0599:Tut7
|
UTSW |
13 |
59,957,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Tut7
|
UTSW |
13 |
59,947,596 (GRCm39) |
nonsense |
probably null |
|
|
R0617:Tut7
|
UTSW |
13 |
59,964,669 (GRCm39) |
splice site |
probably null |
|
|
R0680:Tut7
|
UTSW |
13 |
59,948,413 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0699:Tut7
|
UTSW |
13 |
59,929,828 (GRCm39) |
splice site |
probably benign |
|
|
R1214:Tut7
|
UTSW |
13 |
59,953,140 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1271:Tut7
|
UTSW |
13 |
59,969,669 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1556:Tut7
|
UTSW |
13 |
59,948,054 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1662:Tut7
|
UTSW |
13 |
59,947,717 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1777:Tut7
|
UTSW |
13 |
59,939,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Tut7
|
UTSW |
13 |
59,962,749 (GRCm39) |
nonsense |
probably null |
|
|
R1928:Tut7
|
UTSW |
13 |
59,964,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Tut7
|
UTSW |
13 |
59,959,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2045:Tut7
|
UTSW |
13 |
59,948,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2336:Tut7
|
UTSW |
13 |
59,946,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3764:Tut7
|
UTSW |
13 |
59,948,194 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3899:Tut7
|
UTSW |
13 |
59,937,069 (GRCm39) |
nonsense |
probably null |
|
|
R3918:Tut7
|
UTSW |
13 |
59,929,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4423:Tut7
|
UTSW |
13 |
59,969,863 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4664:Tut7
|
UTSW |
13 |
59,948,413 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4673:Tut7
|
UTSW |
13 |
59,944,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4770:Tut7
|
UTSW |
13 |
59,920,698 (GRCm39) |
unclassified |
probably benign |
|
|
R4884:Tut7
|
UTSW |
13 |
59,937,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5186:Tut7
|
UTSW |
13 |
59,964,470 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5337:Tut7
|
UTSW |
13 |
59,939,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Tut7
|
UTSW |
13 |
59,937,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5452:Tut7
|
UTSW |
13 |
59,948,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Tut7
|
UTSW |
13 |
59,936,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Tut7
|
UTSW |
13 |
59,936,443 (GRCm39) |
nonsense |
probably null |
|
|
R5928:Tut7
|
UTSW |
13 |
59,969,880 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5994:Tut7
|
UTSW |
13 |
59,937,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6415:Tut7
|
UTSW |
13 |
59,964,110 (GRCm39) |
splice site |
probably null |
|
|
R6495:Tut7
|
UTSW |
13 |
59,947,753 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6577:Tut7
|
UTSW |
13 |
59,955,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Tut7
|
UTSW |
13 |
59,936,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7286:Tut7
|
UTSW |
13 |
59,969,463 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7355:Tut7
|
UTSW |
13 |
59,969,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7455:Tut7
|
UTSW |
13 |
59,969,871 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7557:Tut7
|
UTSW |
13 |
59,936,280 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7635:Tut7
|
UTSW |
13 |
59,947,904 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7727:Tut7
|
UTSW |
13 |
59,947,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7798:Tut7
|
UTSW |
13 |
59,963,389 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7912:Tut7
|
UTSW |
13 |
59,946,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7915:Tut7
|
UTSW |
13 |
59,932,628 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8035:Tut7
|
UTSW |
13 |
59,937,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8531:Tut7
|
UTSW |
13 |
59,937,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777:Tut7
|
UTSW |
13 |
59,933,597 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8777-TAIL:Tut7
|
UTSW |
13 |
59,933,597 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8850:Tut7
|
UTSW |
13 |
59,937,011 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8929:Tut7
|
UTSW |
13 |
59,947,942 (GRCm39) |
missense |
probably benign |
|
|
R9254:Tut7
|
UTSW |
13 |
59,936,288 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9313:Tut7
|
UTSW |
13 |
59,947,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9373:Tut7
|
UTSW |
13 |
59,944,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Tut7
|
UTSW |
13 |
59,936,288 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9404:Tut7
|
UTSW |
13 |
59,947,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9461:Tut7
|
UTSW |
13 |
59,963,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Tut7
|
UTSW |
13 |
59,929,957 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9661:Tut7
|
UTSW |
13 |
59,937,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTCAGCTGTACCCAGGGTG -3'
(R):5'- AACCAAAGGTACTCTGAGAGC -3'
Sequencing Primer
(F):5'- ACCCAGGGTGTGTGTGAATG -3'
(R):5'- GACAAAGAGATTCAGAACAAGTACAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation