Incidental Mutation 'R4284:Ctu2'
| ID |
321999 |
| 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 # |
R4284 (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 123204978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 88
(V88I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014614]
[ENSMUST00000067252]
[ENSMUST00000116412]
[ENSMUST00000127664]
[ENSMUST00000128383]
[ENSMUST00000151855]
[ENSMUST00000134127]
[ENSMUST00000136253]
[ENSMUST00000146634]
[ENSMUST00000156333]
|
| 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 |
probably benign
Transcript: ENSMUST00000067252
|
| SMART Domains |
Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
29 |
46 |
N/A |
INTRINSIC |
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
transmembrane domain
|
121 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
169 |
N/A |
INTRINSIC |
|
transmembrane domain
|
211 |
233 |
N/A |
INTRINSIC |
|
transmembrane domain
|
248 |
270 |
N/A |
INTRINSIC |
|
transmembrane domain
|
316 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
353 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
408 |
N/A |
INTRINSIC |
|
transmembrane domain
|
433 |
455 |
N/A |
INTRINSIC |
|
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
|
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
541 |
658 |
5.31e-5 |
PROSPERO |
|
transmembrane domain
|
685 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
753 |
N/A |
INTRINSIC |
|
transmembrane domain
|
817 |
839 |
N/A |
INTRINSIC |
|
transmembrane domain
|
844 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
940 |
952 |
N/A |
INTRINSIC |
|
transmembrane domain
|
979 |
1001 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1005 |
1022 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1035 |
1057 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1154 |
1171 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1178 |
1197 |
N/A |
INTRINSIC |
|
Pfam:PIEZO
|
1229 |
1458 |
1.1e-97 |
PFAM |
|
low complexity region
|
1475 |
1486 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1646 |
1752 |
5.31e-5 |
PROSPERO |
|
low complexity region
|
1905 |
1921 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1976 |
1998 |
N/A |
INTRINSIC |
|
transmembrane domain
|
2018 |
2038 |
N/A |
INTRINSIC |
|
transmembrane domain
|
2045 |
2067 |
N/A |
INTRINSIC |
|
transmembrane domain
|
2077 |
2094 |
N/A |
INTRINSIC |
|
Pfam:Piezo_RRas_bdg
|
2126 |
2544 |
3.2e-157 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116412
AA Change: V113I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112113
Gene: ENSMUSG00000049482
AA Change: V113I
| 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 |
noncoding transcript
Transcript: ENSMUST00000123671
|
| 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 |
probably benign
Transcript: ENSMUST00000128383
|
| SMART Domains |
Protein: ENSMUSP00000116194
Gene: ENSMUSG00000014444
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
transmembrane domain
|
143 |
165 |
N/A |
INTRINSIC |
|
transmembrane domain
|
169 |
188 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
transmembrane domain
|
247 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
315 |
N/A |
INTRINSIC |
|
transmembrane domain
|
379 |
401 |
N/A |
INTRINSIC |
|
transmembrane domain
|
406 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
514 |
N/A |
INTRINSIC |
|
transmembrane domain
|
541 |
563 |
N/A |
INTRINSIC |
|
transmembrane domain
|
567 |
584 |
N/A |
INTRINSIC |
|
transmembrane domain
|
597 |
619 |
N/A |
INTRINSIC |
|
transmembrane domain
|
716 |
733 |
N/A |
INTRINSIC |
|
transmembrane domain
|
740 |
759 |
N/A |
INTRINSIC |
|
transmembrane domain
|
774 |
796 |
N/A |
INTRINSIC |
|
transmembrane domain
|
803 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
859 |
N/A |
INTRINSIC |
|
coiled coil region
|
895 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128472
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151855
AA Change: V113I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133622
Gene: ENSMUSG00000049482
AA Change: V113I
| 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 |
probably benign
Transcript: ENSMUST00000134127
AA Change: V88I
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000119237
Gene: ENSMUSG00000049482
AA Change: V88I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
SCOP:d1sur__
|
25 |
128 |
4e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131934
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148780
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134304
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212499
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136253
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146634
|
| SMART Domains |
Protein: ENSMUSP00000119931
Gene: ENSMUSG00000049482
| 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 |
probably benign
Transcript: ENSMUST00000156333
|
| SMART Domains |
Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
29 |
46 |
N/A |
INTRINSIC |
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
transmembrane domain
|
121 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
170 |
N/A |
INTRINSIC |
|
transmembrane domain
|
212 |
234 |
N/A |
INTRINSIC |
|
transmembrane domain
|
249 |
271 |
N/A |
INTRINSIC |
|
transmembrane domain
|
317 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
409 |
N/A |
INTRINSIC |
|
transmembrane domain
|
434 |
456 |
N/A |
INTRINSIC |
|
transmembrane domain
|
469 |
491 |
N/A |
INTRINSIC |
|
transmembrane domain
|
514 |
536 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
542 |
659 |
4.88e-5 |
PROSPERO |
|
transmembrane domain
|
686 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
754 |
N/A |
INTRINSIC |
|
transmembrane domain
|
818 |
840 |
N/A |
INTRINSIC |
|
transmembrane domain
|
845 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
941 |
953 |
N/A |
INTRINSIC |
|
transmembrane domain
|
980 |
1002 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1006 |
1023 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1036 |
1058 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1155 |
1172 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1179 |
1198 |
N/A |
INTRINSIC |
|
Pfam:PIEZO
|
1230 |
1459 |
2.3e-94 |
PFAM |
|
low complexity region
|
1476 |
1487 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1647 |
1753 |
4.88e-5 |
PROSPERO |
|
low complexity region
|
1906 |
1922 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1977 |
1999 |
N/A |
INTRINSIC |
|
transmembrane domain
|
2019 |
2039 |
N/A |
INTRINSIC |
|
transmembrane domain
|
2046 |
2068 |
N/A |
INTRINSIC |
|
transmembrane domain
|
2078 |
2095 |
N/A |
INTRINSIC |
|
Pfam:Piezo_RRas_bdg
|
2127 |
2545 |
8.7e-154 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
| Capg |
T |
C |
6: 72,538,082 (GRCm39) |
Y323H |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,139,272 (GRCm39) |
T3314A |
possibly damaging |
Het |
| Cilp |
A |
T |
9: 65,185,560 (GRCm39) |
T552S |
probably damaging |
Het |
| Cox16 |
T |
C |
12: 81,521,293 (GRCm39) |
|
probably null |
Het |
| Elfn1 |
A |
T |
5: 139,958,069 (GRCm39) |
K358* |
probably null |
Het |
| Enpp6 |
T |
C |
8: 47,522,050 (GRCm39) |
F328S |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,104,231 (GRCm39) |
L163P |
probably damaging |
Het |
| Gcfc2 |
G |
A |
6: 81,918,372 (GRCm39) |
R354H |
probably damaging |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Ikbke |
C |
T |
1: 131,203,515 (GRCm39) |
|
probably null |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Jmjd6 |
T |
C |
11: 116,733,534 (GRCm39) |
R48G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lilra6 |
T |
C |
7: 3,911,803 (GRCm39) |
H285R |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,310,438 (GRCm39) |
R2712C |
possibly damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
| Relch |
A |
G |
1: 105,649,012 (GRCm39) |
D717G |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,883,345 (GRCm39) |
T318A |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Sox5 |
T |
C |
6: 143,781,055 (GRCm39) |
K570E |
probably damaging |
Het |
| Ssbp1 |
T |
G |
6: 40,454,851 (GRCm39) |
|
probably null |
Het |
| Sult5a1 |
A |
G |
8: 123,875,969 (GRCm39) |
S116P |
probably damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,808 (GRCm39) |
D455E |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,878,780 (GRCm39) |
Y204C |
probably damaging |
Het |
| Tmem161a |
A |
G |
8: 70,630,076 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,623,211 (GRCm39) |
K13663* |
probably null |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
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 |
|
R4111:Ctu2
|
UTSW |
8 |
123,203,256 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
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'- TAGGTGTCAGAGACAGGCTG -3'
(R):5'- GAAACTGGCTAGTCTTTCTGTCC -3'
Sequencing Primer
(F):5'- TGATTCAGATAGGACATGCCCTC -3'
(R):5'- AACTGGCTAGTCTTTCTGTCCCAAAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation