Incidental Mutation 'IGL03237:Ctu2'
| ID |
414113 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctu2
|
| Ensembl Gene |
ENSMUSG00000049482 |
| Gene Name |
cytosolic thiouridylase subunit 2 |
| Synonyms |
2310061F22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03237
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
123202882-123209831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123205792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 180
(E180G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014614]
[ENSMUST00000067252]
[ENSMUST00000116412]
[ENSMUST00000127664]
[ENSMUST00000128383]
[ENSMUST00000151855]
[ENSMUST00000134127]
[ENSMUST00000156333]
[ENSMUST00000136253]
[ENSMUST00000146634]
|
| 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: E205G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112113
Gene: ENSMUSG00000049482
AA Change: E205G
| 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 |
noncoding transcript
Transcript: ENSMUST00000126553
|
| 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 |
probably benign
Transcript: ENSMUST00000151855
AA Change: E205G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133622
Gene: ENSMUSG00000049482
AA Change: E205G
| 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: E180G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000119237
Gene: ENSMUSG00000049482
AA Change: E180G
| 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: ENSMUST00000134304
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148780
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131934
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155803
|
| 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 |
|
| 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 |
|
| Coding Region Coverage |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
G |
13: 91,929,388 (GRCm39) |
Y405C |
probably benign |
Het |
| Adam19 |
A |
G |
11: 46,028,383 (GRCm39) |
K672R |
probably benign |
Het |
| Adamts7 |
C |
A |
9: 90,070,717 (GRCm39) |
P613T |
probably damaging |
Het |
| Adgrl1 |
G |
T |
8: 84,656,312 (GRCm39) |
|
probably null |
Het |
| Adrb1 |
A |
T |
19: 56,711,800 (GRCm39) |
N333Y |
probably damaging |
Het |
| Aqp7 |
C |
T |
4: 41,034,884 (GRCm39) |
V190M |
possibly damaging |
Het |
| Atg101 |
T |
C |
15: 101,185,054 (GRCm39) |
F59L |
probably damaging |
Het |
| Capn12 |
T |
C |
7: 28,590,366 (GRCm39) |
S638P |
probably damaging |
Het |
| Ccm2l |
T |
C |
2: 152,907,922 (GRCm39) |
|
probably benign |
Het |
| Cdc14a |
A |
T |
3: 116,198,275 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,066,037 (GRCm39) |
K770N |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,738,652 (GRCm39) |
D161G |
probably damaging |
Het |
| Col23a1 |
A |
C |
11: 51,458,746 (GRCm39) |
E294D |
possibly damaging |
Het |
| Cped1 |
A |
T |
6: 22,233,595 (GRCm39) |
Y679F |
probably damaging |
Het |
| Cyp11b2 |
C |
T |
15: 74,722,914 (GRCm39) |
V495I |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,810,668 (GRCm39) |
M1563K |
probably benign |
Het |
| Gabrg3 |
A |
T |
7: 56,632,460 (GRCm39) |
|
probably null |
Het |
| Hsd17b11 |
A |
G |
5: 104,151,036 (GRCm39) |
*233Q |
probably null |
Het |
| Klhl41 |
T |
C |
2: 69,500,902 (GRCm39) |
V121A |
possibly damaging |
Het |
| Kptn |
A |
T |
7: 15,854,050 (GRCm39) |
D56V |
probably damaging |
Het |
| L3mbtl4 |
T |
A |
17: 69,084,856 (GRCm39) |
I589N |
probably damaging |
Het |
| Lpl |
A |
T |
8: 69,347,378 (GRCm39) |
N177Y |
possibly damaging |
Het |
| Manba |
G |
A |
3: 135,250,512 (GRCm39) |
V380M |
probably damaging |
Het |
| Mecom |
A |
T |
3: 30,010,648 (GRCm39) |
|
probably benign |
Het |
| Mertk |
A |
G |
2: 128,632,192 (GRCm39) |
E707G |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,037,276 (GRCm39) |
I160F |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,751,800 (GRCm39) |
I81N |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nipal1 |
C |
T |
5: 72,824,150 (GRCm39) |
R76C |
probably damaging |
Het |
| Noc3l |
C |
T |
19: 38,803,125 (GRCm39) |
|
probably null |
Het |
| Nt5e |
A |
G |
9: 88,237,787 (GRCm39) |
D239G |
probably damaging |
Het |
| Olr1 |
A |
C |
6: 129,479,117 (GRCm39) |
W34G |
probably damaging |
Het |
| Plekhf1 |
A |
T |
7: 37,920,799 (GRCm39) |
N256K |
probably benign |
Het |
| Psen2 |
T |
C |
1: 180,068,414 (GRCm39) |
T80A |
possibly damaging |
Het |
| Psg27 |
A |
G |
7: 18,294,417 (GRCm39) |
I330T |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,328,783 (GRCm39) |
V2894A |
probably damaging |
Het |
| Sgcz |
A |
T |
8: 38,030,332 (GRCm39) |
D170E |
probably benign |
Het |
| Snrnp200 |
C |
T |
2: 127,075,233 (GRCm39) |
A1573V |
probably damaging |
Het |
| Steap3 |
C |
T |
1: 120,171,520 (GRCm39) |
G195D |
probably damaging |
Het |
| Tmem165 |
T |
A |
5: 76,347,356 (GRCm39) |
Y5* |
probably null |
Het |
| Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,799,118 (GRCm39) |
C530S |
probably damaging |
Het |
| Wdfy3 |
T |
A |
5: 101,992,465 (GRCm39) |
D3389V |
probably damaging |
Het |
| Zfp128 |
A |
C |
7: 12,624,953 (GRCm39) |
E440D |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation