Incidental Mutation 'R6493:Tut4'
ID |
522825 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tut4
|
Ensembl Gene |
ENSMUSG00000034610 |
Gene Name |
terminal uridylyl transferase 4 |
Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
MMRRC Submission |
044625-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6493 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
108316623-108416618 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108384002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 1053
(K1053R)
|
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: K1053R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044836 Gene: ENSMUSG00000034610 AA Change: K1053R
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: K1053R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095538 Gene: ENSMUSG00000034610 AA Change: K1053R
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 |
noncoding transcript
Transcript: ENSMUST00000138809
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157089
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.3%
|
Validation Efficiency |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,184,704 (GRCm39) |
H934L |
probably benign |
Het |
Abcb1b |
G |
A |
5: 8,874,698 (GRCm39) |
D453N |
probably damaging |
Het |
Ampd3 |
A |
G |
7: 110,395,018 (GRCm39) |
|
probably null |
Het |
Axdnd1 |
A |
T |
1: 156,208,383 (GRCm39) |
I485N |
probably damaging |
Het |
Bscl2 |
A |
G |
19: 8,817,138 (GRCm39) |
D22G |
probably damaging |
Het |
Ccdc96 |
A |
G |
5: 36,643,596 (GRCm39) |
E534G |
probably damaging |
Het |
Cdc42bpg |
G |
T |
19: 6,368,485 (GRCm39) |
G1061V |
probably damaging |
Het |
Cers3 |
T |
C |
7: 66,393,468 (GRCm39) |
Y26H |
probably benign |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
Daxx |
T |
A |
17: 34,131,345 (GRCm39) |
|
probably null |
Het |
Egf |
T |
C |
3: 129,512,737 (GRCm39) |
|
probably benign |
Het |
Eps15 |
A |
G |
4: 109,226,145 (GRCm39) |
D629G |
probably damaging |
Het |
Fancm |
G |
A |
12: 65,144,262 (GRCm39) |
A575T |
probably benign |
Het |
Fat4 |
G |
A |
3: 38,945,036 (GRCm39) |
D1310N |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Grxcr2 |
G |
A |
18: 42,131,766 (GRCm39) |
P101L |
possibly damaging |
Het |
Hsd17b12 |
A |
T |
2: 93,874,228 (GRCm39) |
I225N |
probably damaging |
Het |
Kcnj8 |
T |
C |
6: 142,511,773 (GRCm39) |
Y278C |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,615,205 (GRCm39) |
|
probably null |
Het |
Lax1 |
C |
T |
1: 133,607,530 (GRCm39) |
D404N |
probably benign |
Het |
Lipg |
T |
C |
18: 75,081,095 (GRCm39) |
K329E |
probably damaging |
Het |
Lysmd2 |
T |
G |
9: 75,542,984 (GRCm39) |
L197R |
probably damaging |
Het |
Maneal |
A |
T |
4: 124,750,964 (GRCm39) |
I264N |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,149,455 (GRCm39) |
N1729S |
probably benign |
Het |
Myl2 |
A |
G |
5: 122,244,791 (GRCm39) |
N154D |
possibly damaging |
Het |
Nlrp9c |
T |
A |
7: 26,081,812 (GRCm39) |
D638V |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,362,110 (GRCm39) |
H74R |
unknown |
Het |
Olfml3 |
A |
T |
3: 103,643,523 (GRCm39) |
V286D |
possibly damaging |
Het |
Or14c46 |
T |
G |
7: 85,918,090 (GRCm39) |
K302N |
probably benign |
Het |
Or4b12 |
G |
A |
2: 90,096,052 (GRCm39) |
H241Y |
probably damaging |
Het |
Or51a25 |
G |
T |
7: 102,373,287 (GRCm39) |
R137S |
possibly damaging |
Het |
Or51f23c-ps1 |
A |
G |
7: 102,431,603 (GRCm39) |
K307E |
probably benign |
Het |
Or8k41 |
T |
C |
2: 86,313,565 (GRCm39) |
I174V |
possibly damaging |
Het |
Parn |
A |
C |
16: 13,474,789 (GRCm39) |
F127V |
probably damaging |
Het |
Pcdhac2 |
T |
C |
18: 37,277,758 (GRCm39) |
V246A |
probably damaging |
Het |
Plin2 |
G |
A |
4: 86,580,224 (GRCm39) |
T90I |
possibly damaging |
Het |
Podxl |
C |
T |
6: 31,501,981 (GRCm39) |
C326Y |
probably damaging |
Het |
Pramel46 |
A |
G |
5: 95,418,684 (GRCm39) |
L104P |
probably damaging |
Het |
Prl8a8 |
T |
A |
13: 27,691,335 (GRCm39) |
K223* |
probably null |
Het |
Ptprh |
T |
G |
7: 4,583,989 (GRCm39) |
E201A |
possibly damaging |
Het |
Rtn1 |
A |
C |
12: 72,355,103 (GRCm39) |
V281G |
probably damaging |
Het |
Scaf8 |
T |
C |
17: 3,221,394 (GRCm39) |
S294P |
unknown |
Het |
Shroom3 |
C |
A |
5: 93,089,420 (GRCm39) |
N723K |
probably benign |
Het |
Spata22 |
T |
C |
11: 73,244,572 (GRCm39) |
*312R |
probably null |
Het |
Stx7 |
T |
C |
10: 24,060,969 (GRCm39) |
|
probably null |
Het |
Taar6 |
T |
C |
10: 23,861,021 (GRCm39) |
D175G |
probably benign |
Het |
Tbccd1 |
A |
C |
16: 22,641,216 (GRCm39) |
L387R |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,146,792 (GRCm39) |
M525V |
probably benign |
Het |
Tex10 |
A |
T |
4: 48,436,450 (GRCm39) |
I756N |
probably damaging |
Het |
Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,572,341 (GRCm39) |
E24438G |
probably damaging |
Het |
Wdpcp |
C |
T |
11: 21,661,631 (GRCm39) |
T301I |
possibly damaging |
Het |
Zbtb1 |
C |
T |
12: 76,433,247 (GRCm39) |
T411I |
probably benign |
Het |
Zzef1 |
G |
A |
11: 72,804,129 (GRCm39) |
G2624R |
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 |
R6587:Tut4
|
UTSW |
4 |
108,336,646 (GRCm39) |
missense |
probably benign |
|
R7215:Tut4
|
UTSW |
4 |
108,384,205 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TCTCTGTGAATAGCCTTGGATCG -3'
(R):5'- AACTGATATCACCTTCTAGTCCAC -3'
Sequencing Primer
(F):5'- GCAGGCTCCAAGTCTATGCTAATG -3'
(R):5'- GATATCACCTTCTAGTCCACTTCTC -3'
|
Posted On |
2018-06-06 |