Incidental Mutation 'R7455:Tut7'
ID |
578090 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tut7
|
Ensembl Gene |
ENSMUSG00000035248 |
Gene Name |
terminal uridylyl transferase 7 |
Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
MMRRC Submission |
045529-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.761)
|
Stock # |
R7455 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59969871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 8
(Y8C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071623
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071703]
[ENSMUST00000225179]
[ENSMUST00000225576]
[ENSMUST00000225987]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071703
AA Change: Y8C
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000071623 Gene: ENSMUSG00000035248 AA Change: Y8C
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
AA Change: Y8C
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225576
AA Change: Y8C
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225987
AA Change: Y8C
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
Meta Mutation Damage Score |
0.0616 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl1 |
C |
T |
7: 76,074,503 (GRCm39) |
H646Y |
unknown |
Het |
Ak5 |
C |
T |
3: 152,187,209 (GRCm39) |
R426H |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,022,792 (GRCm39) |
V1207A |
probably benign |
Het |
Asph |
A |
T |
4: 9,531,732 (GRCm39) |
|
probably null |
Het |
Avpr1a |
T |
G |
10: 122,285,169 (GRCm39) |
C154G |
probably damaging |
Het |
Boll |
T |
C |
1: 55,339,262 (GRCm39) |
Q283R |
probably benign |
Het |
Cad |
C |
T |
5: 31,231,506 (GRCm39) |
P1743S |
probably damaging |
Het |
Ccdc137 |
T |
G |
11: 120,350,985 (GRCm39) |
M129R |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,142,003 (GRCm39) |
I3028T |
possibly damaging |
Het |
Cep68 |
T |
A |
11: 20,180,571 (GRCm39) |
I687F |
probably damaging |
Het |
Ces2a |
T |
A |
8: 105,464,154 (GRCm39) |
I262N |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,225,147 (GRCm39) |
|
probably benign |
Het |
Cfap69 |
T |
G |
5: 5,675,873 (GRCm39) |
H247P |
possibly damaging |
Het |
Cideb |
T |
C |
14: 55,992,292 (GRCm39) |
T134A |
probably damaging |
Het |
Cilp2 |
A |
T |
8: 70,333,721 (GRCm39) |
D1092E |
probably damaging |
Het |
Cptp |
G |
A |
4: 155,950,957 (GRCm39) |
R170C |
probably damaging |
Het |
Cysrt1 |
A |
G |
2: 25,129,422 (GRCm39) |
L30S |
probably benign |
Het |
Dcc |
A |
G |
18: 71,553,394 (GRCm39) |
V754A |
probably benign |
Het |
Entrep2 |
A |
G |
7: 64,409,161 (GRCm39) |
V411A |
probably benign |
Het |
Fer1l5 |
A |
T |
1: 36,428,064 (GRCm39) |
T453S |
probably benign |
Het |
Fnbp4 |
ACCACCTCCACCTCCACCTCC |
ACCACCTCCACCTCCACCTCCACCTCC |
2: 90,608,159 (GRCm39) |
|
probably benign |
Het |
Frem2 |
C |
T |
3: 53,479,701 (GRCm39) |
|
probably null |
Het |
Gm13941 |
A |
G |
2: 110,925,085 (GRCm39) |
F173L |
unknown |
Het |
Greb1l |
G |
A |
18: 10,554,915 (GRCm39) |
A1654T |
probably damaging |
Het |
Inpp4b |
T |
A |
8: 82,798,332 (GRCm39) |
I840N |
probably damaging |
Het |
Kdm4b |
T |
A |
17: 56,703,657 (GRCm39) |
I746N |
probably damaging |
Het |
Lins1 |
C |
A |
7: 66,361,692 (GRCm39) |
H448N |
probably benign |
Het |
Ly9 |
A |
T |
1: 171,421,507 (GRCm39) |
Y581* |
probably null |
Het |
Mark1 |
T |
A |
1: 184,651,947 (GRCm39) |
E186V |
probably damaging |
Het |
Mcph1 |
T |
A |
8: 18,681,775 (GRCm39) |
V304E |
probably benign |
Het |
Mical3 |
T |
C |
6: 120,935,705 (GRCm39) |
D1607G |
probably damaging |
Het |
Mup18 |
A |
G |
4: 61,592,171 (GRCm39) |
V31A |
probably benign |
Het |
Nectin3 |
A |
T |
16: 46,317,105 (GRCm39) |
C11* |
probably null |
Het |
Nedd1 |
A |
T |
10: 92,536,787 (GRCm39) |
L172M |
probably benign |
Het |
Nim1k |
G |
A |
13: 120,173,995 (GRCm39) |
R300W |
probably damaging |
Het |
Oprm1 |
T |
C |
10: 6,780,204 (GRCm39) |
F289L |
probably damaging |
Het |
Or4c115 |
G |
T |
2: 88,927,434 (GRCm39) |
P279Q |
probably damaging |
Het |
Or7g12 |
A |
G |
9: 18,900,150 (GRCm39) |
I289V |
possibly damaging |
Het |
Or8c8 |
T |
C |
9: 38,165,550 (GRCm39) |
V276A |
probably damaging |
Het |
Parg |
T |
C |
14: 31,931,432 (GRCm39) |
Y351H |
probably benign |
Het |
Phf3 |
A |
C |
1: 30,876,239 (GRCm39) |
V118G |
probably damaging |
Het |
Pik3c2g |
T |
C |
6: 139,913,643 (GRCm39) |
Y1014H |
unknown |
Het |
Pmp22 |
A |
G |
11: 63,025,339 (GRCm39) |
|
probably null |
Het |
Ppfibp1 |
T |
A |
6: 146,917,848 (GRCm39) |
F501L |
probably damaging |
Het |
Rgl2 |
G |
A |
17: 34,151,657 (GRCm39) |
A234T |
probably benign |
Het |
Rhpn2 |
G |
A |
7: 35,070,669 (GRCm39) |
|
probably null |
Het |
Ryr3 |
T |
C |
2: 112,559,211 (GRCm39) |
K3058E |
probably damaging |
Het |
Sbsn |
A |
T |
7: 30,452,602 (GRCm39) |
Q539L |
possibly damaging |
Het |
Scgn |
G |
A |
13: 24,150,848 (GRCm39) |
R168C |
probably benign |
Het |
Serpinb10 |
A |
G |
1: 107,463,832 (GRCm39) |
Y38C |
probably damaging |
Het |
Sfmbt2 |
G |
A |
2: 10,582,766 (GRCm39) |
V709I |
probably benign |
Het |
Slc1a2 |
A |
T |
2: 102,566,299 (GRCm39) |
M10L |
probably benign |
Het |
Sox6 |
T |
G |
7: 115,088,904 (GRCm39) |
I653L |
probably benign |
Het |
Tespa1 |
A |
G |
10: 130,196,559 (GRCm39) |
I166V |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,067,025 (GRCm39) |
Y2152H |
possibly damaging |
Het |
Tlr9 |
A |
G |
9: 106,101,729 (GRCm39) |
N340S |
probably benign |
Het |
Tmem198 |
G |
A |
1: 75,456,430 (GRCm39) |
R28Q |
unknown |
Het |
Vmn2r7 |
T |
C |
3: 64,624,014 (GRCm39) |
D102G |
probably benign |
Het |
Wdr93 |
A |
G |
7: 79,425,267 (GRCm39) |
M529V |
probably benign |
Het |
Zfp110 |
A |
G |
7: 12,581,984 (GRCm39) |
H310R |
probably benign |
Het |
Zfp36l2 |
A |
G |
17: 84,494,575 (GRCm39) |
S21P |
probably damaging |
Het |
Zfp534 |
G |
A |
4: 147,759,212 (GRCm39) |
H486Y |
probably damaging |
Het |
Zfp638 |
G |
A |
6: 83,907,127 (GRCm39) |
V431I |
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 |
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'- CTGGAAACCCCATACAGTCCTTTC -3'
(R):5'- GAACACTGTAACTTCTGGAATGC -3'
Sequencing Primer
(F):5'- CATACAGTCCTTTCCTGGGGG -3'
(R):5'- AGATAAAGGCTTCAGGGC -3'
|
Posted On |
2019-10-07 |