Incidental Mutation 'R5186:Tut7'
| ID |
397906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut7
|
| Ensembl Gene |
ENSMUSG00000035248 |
| Gene Name |
terminal uridylyl transferase 7 |
| Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
| MMRRC Submission |
042765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.761)
|
| Stock # |
R5186 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 59964470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071703]
[ENSMUST00000071703]
[ENSMUST00000225179]
[ENSMUST00000225576]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071703
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
| 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 null
Transcript: ENSMUST00000071703
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
| 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 benign
Transcript: ENSMUST00000225179
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225576
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,982,425 (GRCm39) |
I6V |
probably null |
Het |
| Aox1 |
A |
G |
1: 58,107,529 (GRCm39) |
D601G |
probably damaging |
Het |
| Asic1 |
GCACC |
GCACCACC |
15: 99,596,684 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
T |
G |
11: 94,333,674 (GRCm39) |
N931T |
probably damaging |
Het |
| Ccdc14 |
T |
C |
16: 34,541,955 (GRCm39) |
F511L |
probably damaging |
Het |
| Cd177 |
T |
A |
7: 24,444,348 (GRCm39) |
E710V |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,643,386 (GRCm39) |
C49R |
probably benign |
Het |
| Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
| Dnah2 |
T |
C |
11: 69,326,710 (GRCm39) |
N3575S |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,044,410 (GRCm39) |
I3234F |
probably damaging |
Het |
| Eci3 |
G |
T |
13: 35,130,961 (GRCm39) |
A302E |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,188,421 (GRCm39) |
K214E |
probably damaging |
Het |
| Fam78a |
T |
C |
2: 31,972,666 (GRCm39) |
T85A |
possibly damaging |
Het |
| Flnb |
T |
C |
14: 7,909,748 (GRCm38) |
Y1401H |
probably damaging |
Het |
| Foxl2 |
A |
T |
9: 98,838,108 (GRCm39) |
D132V |
probably damaging |
Het |
| Frs2 |
C |
A |
10: 116,914,747 (GRCm39) |
W57C |
probably damaging |
Het |
| Gm26558 |
G |
T |
2: 70,491,761 (GRCm39) |
|
probably benign |
Het |
| Gpr139 |
A |
G |
7: 118,744,063 (GRCm39) |
V174A |
probably benign |
Het |
| Grik5 |
T |
C |
7: 24,715,244 (GRCm39) |
T676A |
probably damaging |
Het |
| H60c |
T |
C |
10: 3,209,273 (GRCm39) |
|
probably null |
Het |
| Hspa1l |
A |
G |
17: 35,197,445 (GRCm39) |
K495E |
probably damaging |
Het |
| Irgm1 |
C |
T |
11: 48,757,044 (GRCm39) |
V256I |
probably benign |
Het |
| Kat7 |
T |
A |
11: 95,177,242 (GRCm39) |
T293S |
probably benign |
Het |
| Lipg |
C |
T |
18: 75,094,009 (GRCm39) |
V13I |
probably benign |
Het |
| Lrrn1 |
A |
T |
6: 107,546,185 (GRCm39) |
Y661F |
probably damaging |
Het |
| Mllt3 |
A |
G |
4: 87,759,232 (GRCm39) |
V272A |
probably benign |
Het |
| Mx1 |
G |
A |
16: 97,256,694 (GRCm39) |
R162C |
probably benign |
Het |
| Myo18b |
T |
A |
5: 113,019,336 (GRCm39) |
D647V |
probably damaging |
Het |
| Naf1 |
G |
A |
8: 67,332,298 (GRCm39) |
V329I |
probably benign |
Het |
| Or4k40 |
A |
T |
2: 111,251,119 (GRCm39) |
M59K |
probably damaging |
Het |
| Or52u1 |
A |
T |
7: 104,237,418 (GRCm39) |
I153F |
probably damaging |
Het |
| Or8g22 |
A |
T |
9: 38,958,265 (GRCm39) |
C194* |
probably null |
Het |
| P2rx5 |
G |
A |
11: 73,062,616 (GRCm39) |
V442M |
possibly damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,534,285 (GRCm39) |
E93G |
probably damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,820,479 (GRCm39) |
N676I |
probably benign |
Het |
| Pgm5 |
A |
G |
19: 24,797,492 (GRCm39) |
M230T |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,599,016 (GRCm39) |
V44A |
probably damaging |
Het |
| Pp2d1 |
T |
C |
17: 53,815,168 (GRCm39) |
M519V |
probably benign |
Het |
| Ppp1r10 |
A |
G |
17: 36,239,403 (GRCm39) |
E404G |
probably damaging |
Het |
| Prpf8 |
A |
T |
11: 75,380,609 (GRCm39) |
E104V |
possibly damaging |
Het |
| Ptpra |
T |
C |
2: 30,328,367 (GRCm39) |
|
probably null |
Het |
| Pygl |
A |
C |
12: 70,248,118 (GRCm39) |
N248K |
probably damaging |
Het |
| Rbm8a |
A |
G |
3: 96,538,248 (GRCm39) |
D102G |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,634,875 (GRCm39) |
D647G |
probably benign |
Het |
| Serpinb11 |
A |
T |
1: 107,307,484 (GRCm39) |
D305V |
probably damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,437,578 (GRCm39) |
I337T |
probably damaging |
Het |
| Slc29a2 |
G |
A |
19: 5,078,995 (GRCm39) |
R286Q |
probably benign |
Het |
| Slc2a3 |
T |
A |
6: 122,712,542 (GRCm39) |
D234V |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,114,901 (GRCm39) |
V608A |
probably damaging |
Het |
| Spata31d1e |
A |
T |
13: 59,891,553 (GRCm39) |
L89H |
probably damaging |
Het |
| Srrm2 |
C |
T |
17: 24,035,561 (GRCm39) |
T831I |
probably benign |
Het |
| St18 |
T |
A |
1: 6,872,541 (GRCm39) |
|
probably null |
Het |
| Tesk2 |
G |
C |
4: 116,599,093 (GRCm39) |
G67A |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,082,564 (GRCm39) |
L671H |
probably damaging |
Het |
| Tmem63b |
A |
T |
17: 45,972,403 (GRCm39) |
Y735N |
possibly damaging |
Het |
| Tmprss11a |
C |
T |
5: 86,567,938 (GRCm39) |
C263Y |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,898,077 (GRCm39) |
V345E |
probably damaging |
Het |
| Ubr5 |
A |
G |
15: 37,998,160 (GRCm39) |
S1674P |
probably damaging |
Het |
| Uchl3 |
T |
A |
14: 101,933,353 (GRCm39) |
C209S |
probably damaging |
Het |
| Uhmk1 |
T |
C |
1: 170,038,736 (GRCm39) |
N206S |
probably damaging |
Het |
| Uhrf1 |
C |
T |
17: 56,625,340 (GRCm39) |
R588W |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,921,550 (GRCm39) |
V256A |
probably damaging |
Het |
| Utrn |
C |
A |
10: 12,604,521 (GRCm39) |
L552F |
probably damaging |
Het |
| Vmn1r55 |
A |
T |
7: 5,149,985 (GRCm39) |
M146K |
probably damaging |
Het |
| Vmn1r57 |
A |
C |
7: 5,224,107 (GRCm39) |
I211L |
probably benign |
Het |
| Zar1 |
C |
T |
5: 72,734,742 (GRCm39) |
C316Y |
probably damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,549,412 (GRCm39) |
S750T |
probably damaging |
Het |
| Zfp366 |
G |
A |
13: 99,382,676 (GRCm39) |
C613Y |
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,493 (GRCm39) |
C524S |
probably damaging |
Het |
| Zfp516 |
T |
C |
18: 82,975,218 (GRCm39) |
V472A |
probably benign |
Het |
| Zhx1 |
A |
T |
15: 57,915,819 (GRCm39) |
M809K |
probably damaging |
Het |
| Zic1 |
T |
C |
9: 91,246,424 (GRCm39) |
Y216C |
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 |
|
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 |
|
R7369:Tut7
|
UTSW |
13 |
59,929,867 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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'- TGTTACTTCCAAGCTTGACAGTC -3'
(R):5'- ACCCGTATTGTCCCCTAACTTAAG -3'
Sequencing Primer
(F):5'- CATGGTAAAGCCTAACCCT -3'
(R):5'- CGTATTGTCCCCTAACTTAAGAAAAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation