Incidental Mutation 'R4111:Ctu2'
| ID |
317312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctu2
|
| Ensembl Gene |
ENSMUSG00000049482 |
| Gene Name |
cytosolic thiouridylase subunit 2 |
| Synonyms |
2310061F22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4111 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
123202882-123209831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 123203256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 24
(R24Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014614]
[ENSMUST00000116412]
[ENSMUST00000127664]
[ENSMUST00000134127]
[ENSMUST00000136253]
[ENSMUST00000146634]
[ENSMUST00000151855]
|
| AlphaFold |
Q3U308 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014614
|
| SMART Domains |
Protein: ENSMUSP00000014614
Gene: ENSMUSG00000014470
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
33 |
72 |
3.29e-5 |
SMART |
|
ZnF_C2H2
|
150 |
173 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
180 |
208 |
9.56e1 |
SMART |
|
low complexity region
|
222 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116412
AA Change: R24Q
PolyPhen 2
Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112113
Gene: ENSMUSG00000049482
AA Change: R24Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
SCOP:d1sur__
|
47 |
153 |
1e-3 |
SMART |
|
Pfam:CTU2
|
347 |
470 |
2.3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131934
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134127
|
| SMART Domains |
Protein: ENSMUSP00000119237
Gene: ENSMUSG00000049482
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
SCOP:d1sur__
|
25 |
128 |
4e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149925
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146634
AA Change: R24Q
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000119931
Gene: ENSMUSG00000049482
AA Change: R24Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151855
AA Change: R24Q
PolyPhen 2
Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133622
Gene: ENSMUSG00000049482
AA Change: R24Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
SCOP:d1sur__
|
47 |
153 |
9e-4 |
SMART |
|
Pfam:DUF2392
|
277 |
377 |
1.7e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148780
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175383
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212499
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Acot10 |
A |
T |
15: 20,666,612 (GRCm39) |
L43Q |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,597,870 (GRCm39) |
V1368I |
probably benign |
Het |
| Ambra1 |
T |
C |
2: 91,730,903 (GRCm39) |
S894P |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,883,570 (GRCm39) |
G1320C |
probably damaging |
Het |
| Atg7 |
G |
C |
6: 114,690,255 (GRCm39) |
G596R |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,873,010 (GRCm39) |
V423A |
probably damaging |
Het |
| Bltp3a |
T |
A |
17: 28,105,064 (GRCm39) |
L586* |
probably null |
Het |
| Cdh17 |
T |
C |
4: 11,814,628 (GRCm39) |
S728P |
probably damaging |
Het |
| Dclk3 |
T |
C |
9: 111,298,148 (GRCm39) |
I564T |
probably damaging |
Het |
| Ddx39b |
T |
A |
17: 35,462,340 (GRCm39) |
I42N |
possibly damaging |
Het |
| Defa39 |
T |
C |
8: 22,192,679 (GRCm39) |
T106A |
possibly damaging |
Het |
| Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
| Dzip1 |
T |
A |
14: 119,114,645 (GRCm39) |
K837* |
probably null |
Het |
| Epha1 |
G |
A |
6: 42,335,772 (GRCm39) |
T955M |
possibly damaging |
Het |
| Etfbkmt |
T |
C |
6: 149,046,089 (GRCm39) |
|
probably benign |
Het |
| Etfrf1 |
T |
C |
6: 145,161,098 (GRCm39) |
Y23H |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gm5611 |
T |
A |
9: 16,941,989 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
T |
C |
1: 135,095,008 (GRCm39) |
T79A |
possibly damaging |
Het |
| Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
| Hyls1 |
T |
A |
9: 35,472,714 (GRCm39) |
Y234F |
probably damaging |
Het |
| Ifnar1 |
C |
A |
16: 91,293,046 (GRCm39) |
P230T |
probably damaging |
Het |
| Impact |
T |
C |
18: 13,109,090 (GRCm39) |
|
probably null |
Het |
| Kcna6 |
G |
C |
6: 126,716,737 (GRCm39) |
R51G |
probably damaging |
Het |
| Lrpprc |
G |
A |
17: 85,033,766 (GRCm39) |
T1037M |
probably benign |
Het |
| Or10g9 |
C |
A |
9: 39,912,194 (GRCm39) |
E110* |
probably null |
Het |
| Or4a2 |
C |
A |
2: 89,248,444 (GRCm39) |
L104F |
probably benign |
Het |
| Or5an6 |
T |
C |
19: 12,371,665 (GRCm39) |
F13L |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,896,999 (GRCm39) |
I45N |
probably damaging |
Het |
| Pask |
A |
G |
1: 93,238,540 (GRCm39) |
V1315A |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,676,475 (GRCm39) |
I210F |
possibly damaging |
Het |
| Prl7a2 |
A |
T |
13: 27,849,050 (GRCm39) |
Y80N |
possibly damaging |
Het |
| Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
| Rtn2 |
T |
C |
7: 19,020,769 (GRCm39) |
S81P |
probably damaging |
Het |
| Sbf2 |
G |
A |
7: 110,027,449 (GRCm39) |
P470S |
probably damaging |
Het |
| Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
| Sox30 |
A |
G |
11: 45,908,041 (GRCm39) |
Y736C |
probably benign |
Het |
| Srsf3-ps |
A |
T |
11: 98,516,223 (GRCm39) |
V50D |
probably damaging |
Het |
| Synj2 |
G |
A |
17: 6,058,240 (GRCm39) |
G243S |
probably benign |
Het |
| Tbr1 |
C |
T |
2: 61,642,076 (GRCm39) |
P184L |
probably benign |
Het |
| Tns1 |
T |
C |
1: 73,981,091 (GRCm39) |
N1091S |
probably damaging |
Het |
| Trappc10 |
A |
G |
10: 78,032,264 (GRCm39) |
F1008S |
probably benign |
Het |
| Ube4a |
T |
A |
9: 44,860,247 (GRCm39) |
I272F |
probably damaging |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,438 (GRCm39) |
S206T |
probably damaging |
Het |
| Vmn2r1 |
A |
C |
3: 63,997,176 (GRCm39) |
K277N |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,617,992 (GRCm39) |
E2931G |
probably damaging |
Het |
| Wdr70 |
G |
T |
15: 8,006,472 (GRCm39) |
Q360K |
probably benign |
Het |
| Wdr90 |
G |
T |
17: 26,068,342 (GRCm39) |
Q1329K |
possibly damaging |
Het |
| Wrn |
T |
C |
8: 33,842,183 (GRCm39) |
N37S |
probably benign |
Het |
| Yap1 |
A |
T |
9: 7,938,432 (GRCm39) |
*358K |
probably null |
Het |
| Zfp964 |
T |
A |
8: 70,116,754 (GRCm39) |
S450R |
probably benign |
Het |
| Zkscan2 |
T |
C |
7: 123,081,907 (GRCm39) |
|
probably benign |
Het |
| Zmynd10 |
A |
T |
9: 107,426,251 (GRCm39) |
K133* |
probably null |
Het |
|
| Other mutations in Ctu2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00772:Ctu2
|
APN |
8 |
123,203,977 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01764:Ctu2
|
APN |
8 |
123,206,161 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02190:Ctu2
|
APN |
8 |
123,208,397 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02869:Ctu2
|
APN |
8 |
123,205,530 (GRCm39) |
splice site |
probably null |
|
|
IGL03136:Ctu2
|
APN |
8 |
123,205,940 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03139:Ctu2
|
APN |
8 |
123,205,446 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03237:Ctu2
|
APN |
8 |
123,205,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4354001:Ctu2
|
UTSW |
8 |
123,205,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0001:Ctu2
|
UTSW |
8 |
123,205,659 (GRCm39) |
missense |
probably benign |
|
|
R0359:Ctu2
|
UTSW |
8 |
123,204,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1078:Ctu2
|
UTSW |
8 |
123,208,238 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1938:Ctu2
|
UTSW |
8 |
123,206,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Ctu2
|
UTSW |
8 |
123,205,891 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2145:Ctu2
|
UTSW |
8 |
123,205,891 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2221:Ctu2
|
UTSW |
8 |
123,207,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4284:Ctu2
|
UTSW |
8 |
123,204,978 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4704:Ctu2
|
UTSW |
8 |
123,206,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Ctu2
|
UTSW |
8 |
123,207,851 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5254:Ctu2
|
UTSW |
8 |
123,203,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5804:Ctu2
|
UTSW |
8 |
123,207,965 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5935:Ctu2
|
UTSW |
8 |
123,203,693 (GRCm39) |
unclassified |
probably benign |
|
|
R7378:Ctu2
|
UTSW |
8 |
123,208,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7911:Ctu2
|
UTSW |
8 |
123,207,733 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8546:Ctu2
|
UTSW |
8 |
123,206,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Ctu2
|
UTSW |
8 |
123,206,951 (GRCm39) |
missense |
|
|
|
R9082:Ctu2
|
UTSW |
8 |
123,203,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9272:Ctu2
|
UTSW |
8 |
123,206,045 (GRCm39) |
missense |
probably benign |
|
|
R9796:Ctu2
|
UTSW |
8 |
123,202,989 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAAGAACCTTCTACCACCAG -3'
(R):5'- CTAAGCACTTACAAGTTACCGCG -3'
Sequencing Primer
(F):5'- GGACAGTCCCCTTCGGTTC -3'
(R):5'- AGTTACCGCGCCTTTACAAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation