Incidental Mutation 'R7798:Tut7'
| ID |
600384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut7
|
| Ensembl Gene |
ENSMUSG00000035248 |
| Gene Name |
terminal uridylyl transferase 7 |
| Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
| MMRRC Submission |
045648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.796)
|
| Stock # |
R7798 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59963389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 323
(M323K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071703]
[ENSMUST00000225576]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071703
AA Change: M323K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: M323K
| 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: ENSMUST00000225576
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
A |
15: 79,019,932 (GRCm39) |
N128I |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,241,664 (GRCm39) |
T1176A |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,029,005 (GRCm39) |
V851A |
probably benign |
Het |
| Abcc6 |
C |
A |
7: 45,626,277 (GRCm39) |
E1494* |
probably null |
Het |
| Adamts14 |
A |
T |
10: 61,106,952 (GRCm39) |
V56E |
probably damaging |
Het |
| Adamts15 |
G |
A |
9: 30,815,939 (GRCm39) |
T639M |
probably damaging |
Het |
| Albfm1 |
T |
C |
5: 90,745,370 (GRCm39) |
S608P |
possibly damaging |
Het |
| Arhgap11a |
A |
C |
2: 113,673,680 (GRCm39) |
V70G |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,249 (GRCm39) |
D113E |
probably benign |
Het |
| Best1 |
T |
C |
19: 9,969,035 (GRCm39) |
Y227C |
probably damaging |
Het |
| Camk2b |
A |
G |
11: 5,928,399 (GRCm39) |
S447P |
probably benign |
Het |
| Ccdc88a |
C |
A |
11: 29,427,348 (GRCm39) |
Q1018K |
probably benign |
Het |
| Cdhr17 |
T |
C |
5: 17,061,656 (GRCm39) |
F801L |
possibly damaging |
Het |
| Cfap74 |
T |
A |
4: 155,507,079 (GRCm39) |
V180D |
|
Het |
| Clca3a1 |
T |
A |
3: 144,463,723 (GRCm39) |
T185S |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,533,891 (GRCm39) |
S495G |
probably damaging |
Het |
| Cyb5r2 |
A |
T |
7: 107,353,155 (GRCm39) |
Y96N |
possibly damaging |
Het |
| Cyp21a1 |
T |
C |
17: 35,023,295 (GRCm39) |
K27E |
probably benign |
Het |
| Cyp2ab1 |
T |
C |
16: 20,131,166 (GRCm39) |
E321G |
probably benign |
Het |
| Des |
T |
C |
1: 75,339,003 (GRCm39) |
I228T |
probably damaging |
Het |
| Dis3l |
G |
T |
9: 64,248,299 (GRCm39) |
P39T |
probably benign |
Het |
| Disp2 |
A |
C |
2: 118,622,360 (GRCm39) |
I1031L |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,786,757 (GRCm39) |
|
probably null |
Het |
| Fgf23 |
A |
T |
6: 127,050,177 (GRCm39) |
D62V |
probably damaging |
Het |
| Galnt15 |
C |
T |
14: 31,751,862 (GRCm39) |
T138I |
possibly damaging |
Het |
| Ggt6 |
A |
T |
11: 72,326,367 (GRCm39) |
|
probably benign |
Het |
| Gpr180 |
T |
A |
14: 118,391,098 (GRCm39) |
V209D |
probably damaging |
Het |
| Gzma |
A |
T |
13: 113,232,858 (GRCm39) |
F78Y |
probably benign |
Het |
| Igkv8-30 |
A |
T |
6: 70,094,355 (GRCm39) |
C19S |
probably benign |
Het |
| Il1r1 |
G |
A |
1: 40,349,526 (GRCm39) |
V361I |
probably benign |
Het |
| Intu |
T |
C |
3: 40,646,359 (GRCm39) |
V598A |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,287,513 (GRCm39) |
F471L |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,924,357 (GRCm39) |
V1081E |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,957,180 (GRCm39) |
V2163E |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,271,893 (GRCm39) |
K6552E |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,956,315 (GRCm39) |
H842R |
probably benign |
Het |
| Mgat4b |
A |
G |
11: 50,116,497 (GRCm39) |
T10A |
possibly damaging |
Het |
| Muc21 |
C |
G |
17: 35,932,146 (GRCm39) |
G680A |
unknown |
Het |
| Muc5ac |
T |
C |
7: 141,347,778 (GRCm39) |
|
probably null |
Het |
| Nrk |
CGCAGCAGCAGCAGCAGCAGC |
CGCAGCAGCAGCAGCAGC |
X: 137,883,426 (GRCm39) |
|
probably benign |
Het |
| Nsun4 |
T |
G |
4: 115,908,371 (GRCm39) |
S730R |
possibly damaging |
Het |
| Or12e1 |
A |
T |
2: 87,022,636 (GRCm39) |
I202L |
probably benign |
Het |
| Or12k7 |
A |
T |
2: 36,959,186 (GRCm39) |
S290C |
probably damaging |
Het |
| Or1n1 |
T |
C |
2: 36,750,348 (GRCm39) |
E4G |
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,617 (GRCm39) |
F305L |
probably benign |
Het |
| Or4k15 |
A |
T |
14: 50,364,895 (GRCm39) |
Y287F |
probably damaging |
Het |
| Padi3 |
C |
T |
4: 140,513,750 (GRCm39) |
E653K |
probably benign |
Het |
| Pde4a |
A |
G |
9: 21,109,959 (GRCm39) |
E280G |
possibly damaging |
Het |
| Phactr3 |
G |
A |
2: 177,925,703 (GRCm39) |
R326H |
probably benign |
Het |
| Prob1 |
G |
A |
18: 35,786,397 (GRCm39) |
P619L |
possibly damaging |
Het |
| Ptk2 |
G |
A |
15: 73,167,224 (GRCm39) |
R368W |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,116,293 (GRCm39) |
T240A |
probably benign |
Het |
| Rpa1 |
A |
T |
11: 75,203,635 (GRCm39) |
Y356N |
probably damaging |
Het |
| Rxrb |
T |
A |
17: 34,252,579 (GRCm39) |
D165E |
probably damaging |
Het |
| Sco1 |
A |
G |
11: 66,944,628 (GRCm39) |
T84A |
possibly damaging |
Het |
| Sepsecs |
T |
C |
5: 52,804,531 (GRCm39) |
I380V |
probably benign |
Het |
| Sfmbt1 |
T |
A |
14: 30,538,759 (GRCm39) |
W793R |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,968,344 (GRCm39) |
S459P |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,771,162 (GRCm39) |
S1503R |
possibly damaging |
Het |
| Sox2 |
G |
A |
3: 34,704,791 (GRCm39) |
R76H |
probably damaging |
Het |
| Spty2d1 |
G |
A |
7: 46,645,804 (GRCm39) |
S613F |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,793,776 (GRCm39) |
Y440N |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 85,916,117 (GRCm39) |
Y290H |
probably damaging |
Het |
| Tex15 |
C |
T |
8: 34,071,875 (GRCm39) |
S2474F |
possibly damaging |
Het |
| Tgtp1 |
A |
G |
11: 48,878,159 (GRCm39) |
F182S |
probably benign |
Het |
| Tmcc1 |
A |
T |
6: 116,020,539 (GRCm39) |
S304R |
|
Het |
| Tmem130 |
T |
G |
5: 144,680,580 (GRCm39) |
K275Q |
probably damaging |
Het |
| Tmem9 |
C |
A |
1: 135,961,927 (GRCm39) |
T174K |
probably damaging |
Het |
| Ttyh3 |
C |
T |
5: 140,620,538 (GRCm39) |
R233Q |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,996,107 (GRCm39) |
M180T |
probably benign |
Het |
| Ube4a |
A |
G |
9: 44,844,629 (GRCm39) |
V874A |
probably damaging |
Het |
| Ugt2a3 |
T |
C |
5: 87,475,582 (GRCm39) |
N350S |
probably damaging |
Het |
| Vegfa |
C |
T |
17: 46,342,761 (GRCm39) |
G19D |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,041,518 (GRCm39) |
C399F |
possibly damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,530 (GRCm39) |
P385T |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,596,192 (GRCm39) |
F164S |
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 |
|
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 |
|
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'- CCCAATAGGAATCCCAGTCG -3'
(R):5'- CCTGTCTCAGTGAGAAGAACAG -3'
Sequencing Primer
(F):5'- AGTCGGGGATGCCTCTC -3'
(R):5'- TGTCTCAGTGAGAAGAACAGCTACAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation