Incidental Mutation 'R7215:Tut4'
ID |
561372 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tut4
|
Ensembl Gene |
ENSMUSG00000034610 |
Gene Name |
terminal uridylyl transferase 4 |
Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
MMRRC Submission |
045287-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7215 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108384205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 1091
(Y1091H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095538
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
[ENSMUST00000155068]
|
AlphaFold |
B2RX14 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043368
AA Change: Y1091H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044836 Gene: ENSMUSG00000034610 AA Change: Y1091H
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 damaging
Transcript: ENSMUST00000097925
AA Change: Y1091H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095538 Gene: ENSMUSG00000034610 AA Change: Y1091H
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: ENSMUST00000155068
|
SMART Domains |
Protein: ENSMUSP00000120172 Gene: ENSMUSG00000034610
Domain | Start | End | E-Value | Type |
low complexity region
|
221 |
236 |
N/A |
INTRINSIC |
SCOP:d1f5aa2
|
324 |
530 |
2e-23 |
SMART |
Pfam:PAP_assoc
|
609 |
662 |
8.8e-15 |
PFAM |
low complexity region
|
704 |
719 |
N/A |
INTRINSIC |
low complexity region
|
776 |
789 |
N/A |
INTRINSIC |
ZnF_C2HC
|
892 |
908 |
7.79e-3 |
SMART |
|
Meta Mutation Damage Score |
0.6804 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (79/81) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
G |
A |
13: 77,471,690 (GRCm39) |
V1032M |
possibly damaging |
Het |
Abca13 |
T |
A |
11: 9,238,405 (GRCm39) |
|
probably null |
Het |
Adamts14 |
T |
A |
10: 61,047,375 (GRCm39) |
H739L |
possibly damaging |
Het |
Adgrl3 |
A |
G |
5: 81,841,397 (GRCm39) |
E758G |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,496,277 (GRCm39) |
T826S |
probably damaging |
Het |
Arhgap45 |
C |
T |
10: 79,861,316 (GRCm39) |
T493I |
possibly damaging |
Het |
Atg9b |
A |
C |
5: 24,593,039 (GRCm39) |
W455G |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,416,785 (GRCm39) |
N496S |
possibly damaging |
Het |
Bckdk |
T |
A |
7: 127,504,282 (GRCm39) |
D60E |
possibly damaging |
Het |
Blmh |
A |
T |
11: 76,856,725 (GRCm39) |
K244* |
probably null |
Het |
Btbd17 |
T |
C |
11: 114,682,291 (GRCm39) |
I474V |
possibly damaging |
Het |
C87436 |
A |
G |
6: 86,439,662 (GRCm39) |
E451G |
possibly damaging |
Het |
Camta1 |
T |
C |
4: 151,229,194 (GRCm39) |
E546G |
probably damaging |
Het |
Casp1 |
A |
G |
9: 5,298,523 (GRCm39) |
|
probably null |
Het |
Ccdc116 |
A |
G |
16: 16,957,792 (GRCm39) |
Y456H |
probably damaging |
Het |
Cep350 |
A |
C |
1: 155,770,453 (GRCm39) |
S1812R |
possibly damaging |
Het |
Chrna10 |
A |
G |
7: 101,761,415 (GRCm39) |
L392P |
possibly damaging |
Het |
Col22a1 |
A |
T |
15: 71,842,181 (GRCm39) |
C434* |
probably null |
Het |
Cxcl9 |
G |
A |
5: 92,471,747 (GRCm39) |
Q98* |
probably null |
Het |
Cyp2c54 |
G |
A |
19: 40,034,626 (GRCm39) |
T348I |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,657,509 (GRCm39) |
R756C |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,815,034 (GRCm39) |
T239A |
probably benign |
Het |
Dnase2a |
A |
T |
8: 85,636,399 (GRCm39) |
|
probably null |
Het |
Dpyd |
A |
G |
3: 119,059,681 (GRCm39) |
T793A |
probably benign |
Het |
Edil3 |
T |
C |
13: 88,970,169 (GRCm39) |
|
probably null |
Het |
Ehd1 |
T |
A |
19: 6,347,672 (GRCm39) |
I342N |
possibly damaging |
Het |
Erbb4 |
A |
T |
1: 68,378,619 (GRCm39) |
S341T |
probably benign |
Het |
Ezh1 |
T |
A |
11: 101,106,125 (GRCm39) |
T87S |
probably benign |
Het |
Fam20b |
A |
T |
1: 156,518,123 (GRCm39) |
W224R |
probably damaging |
Het |
Galns |
A |
T |
8: 123,326,087 (GRCm39) |
|
probably null |
Het |
Gm13283 |
C |
T |
4: 88,678,967 (GRCm39) |
|
probably benign |
Het |
Gm49342 |
A |
T |
14: 51,182,040 (GRCm39) |
M23L |
probably benign |
Het |
Gm5114 |
T |
A |
7: 39,060,795 (GRCm39) |
H18L |
probably benign |
Het |
Gpr89 |
A |
G |
3: 96,787,404 (GRCm39) |
W299R |
probably damaging |
Het |
Hadha |
G |
T |
5: 30,324,840 (GRCm39) |
N755K |
probably benign |
Het |
Inpp5d |
A |
T |
1: 87,628,940 (GRCm39) |
H620L |
probably benign |
Het |
Klk1b3 |
T |
A |
7: 43,849,828 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,401,097 (GRCm39) |
T663A |
probably damaging |
Het |
Man1b1 |
A |
G |
2: 25,240,402 (GRCm39) |
N601S |
probably benign |
Het |
Mbtps1 |
A |
G |
8: 120,251,307 (GRCm39) |
V605A |
possibly damaging |
Het |
Med23 |
C |
G |
10: 24,764,327 (GRCm39) |
D311E |
probably benign |
Het |
Myo3a |
G |
T |
2: 22,250,378 (GRCm39) |
D82Y |
possibly damaging |
Het |
Nsd1 |
T |
A |
13: 55,395,454 (GRCm39) |
D1121E |
probably benign |
Het |
Odad1 |
C |
T |
7: 45,586,046 (GRCm39) |
R148C |
probably damaging |
Het |
Or4c116 |
G |
A |
2: 88,942,845 (GRCm39) |
Q4* |
probably null |
Het |
Or5al1 |
C |
T |
2: 85,989,800 (GRCm39) |
V305I |
probably benign |
Het |
Or8b3b |
A |
G |
9: 38,584,743 (GRCm39) |
I12T |
probably benign |
Het |
Otoa |
T |
C |
7: 120,717,795 (GRCm39) |
V19A |
unknown |
Het |
Pcdhb20 |
A |
T |
18: 37,638,439 (GRCm39) |
T322S |
probably benign |
Het |
Pecam1 |
T |
C |
11: 106,586,745 (GRCm39) |
T257A |
probably benign |
Het |
Pi16 |
G |
T |
17: 29,538,072 (GRCm39) |
|
probably benign |
Het |
Pik3c2g |
C |
T |
6: 139,700,589 (GRCm39) |
T293M |
|
Het |
Pira13 |
C |
T |
7: 3,825,310 (GRCm39) |
C444Y |
unknown |
Het |
Pkhd1l1 |
T |
A |
15: 44,391,559 (GRCm39) |
C1542S |
possibly damaging |
Het |
Prrc2b |
G |
A |
2: 32,119,309 (GRCm39) |
G2172R |
probably damaging |
Het |
Prrt1 |
A |
T |
17: 34,848,677 (GRCm39) |
|
probably null |
Het |
Ptprb |
T |
A |
10: 116,174,681 (GRCm39) |
N784K |
possibly damaging |
Het |
Rem1 |
C |
A |
2: 152,470,069 (GRCm39) |
S18R |
probably damaging |
Het |
Ripk4 |
G |
A |
16: 97,548,523 (GRCm39) |
|
probably null |
Het |
Scn8a |
G |
A |
15: 100,927,711 (GRCm39) |
V1397I |
possibly damaging |
Het |
Setbp1 |
T |
A |
18: 78,900,052 (GRCm39) |
H1205L |
probably damaging |
Het |
Shmt1 |
T |
C |
11: 60,692,361 (GRCm39) |
I132V |
probably damaging |
Het |
Slc24a1 |
T |
A |
9: 64,835,785 (GRCm39) |
T781S |
unknown |
Het |
Sncaip |
C |
T |
18: 53,040,415 (GRCm39) |
Q870* |
probably null |
Het |
Stab1 |
A |
T |
14: 30,882,754 (GRCm39) |
N416K |
possibly damaging |
Het |
Tcea1 |
A |
G |
1: 4,937,706 (GRCm39) |
D26G |
probably damaging |
Het |
Tcf20 |
A |
T |
15: 82,737,690 (GRCm39) |
S1254T |
probably benign |
Het |
Tead4 |
T |
A |
6: 128,205,641 (GRCm39) |
I354F |
probably damaging |
Het |
Tex36 |
G |
A |
7: 133,189,147 (GRCm39) |
R142* |
probably null |
Het |
Trav6d-3 |
T |
A |
14: 52,962,799 (GRCm39) |
L12Q |
probably damaging |
Het |
Trpc4 |
A |
G |
3: 54,102,317 (GRCm39) |
T72A |
possibly damaging |
Het |
Trrap |
G |
A |
5: 144,733,945 (GRCm39) |
A933T |
probably benign |
Het |
Tspoap1 |
T |
A |
11: 87,661,315 (GRCm39) |
I589N |
probably benign |
Het |
Ttll5 |
T |
A |
12: 85,980,170 (GRCm39) |
V918E |
probably benign |
Het |
Txn2 |
A |
G |
15: 77,811,886 (GRCm39) |
|
probably null |
Het |
Ucn3 |
T |
G |
13: 3,991,365 (GRCm39) |
T96P |
probably benign |
Het |
Usp36 |
T |
C |
11: 118,155,980 (GRCm39) |
E764G |
possibly damaging |
Het |
Vmn2r23 |
A |
T |
6: 123,681,323 (GRCm39) |
H77L |
probably benign |
Het |
Vmn2r57 |
T |
C |
7: 41,049,710 (GRCm39) |
T680A |
probably benign |
Het |
Vwa3a |
T |
C |
7: 120,394,853 (GRCm39) |
I891T |
possibly damaging |
Het |
Zfp764l1 |
A |
G |
7: 126,990,695 (GRCm39) |
S431P |
probably benign |
Het |
Zhx2 |
A |
G |
15: 57,687,039 (GRCm39) |
I803V |
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 |
|
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 |
R9721:Tut4
|
UTSW |
4 |
108,412,778 (GRCm39) |
missense |
probably benign |
0.22 |
|
Predicted Primers |
PCR Primer
(F):5'- CGAAAATTCTTAAGAGGCATCCAG -3'
(R):5'- AACTGTTAGGTCTGCAGGTG -3'
Sequencing Primer
(F):5'- AAGAGGCATCCAGGTAAAATTTC -3'
(R):5'- TGTGCACCACCACCGTCAG -3'
|
Posted On |
2019-06-26 |