Incidental Mutation 'PIT4354001:Ctu2'
| ID |
554822 |
| 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 # |
PIT4354001 (G1)
|
| Quality Score |
110.008 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
123202882-123209831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123205714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 179
(D179V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014614]
[ENSMUST00000067252]
[ENSMUST00000116412]
[ENSMUST00000127664]
[ENSMUST00000128383]
[ENSMUST00000134127]
[ENSMUST00000136253]
[ENSMUST00000146634]
[ENSMUST00000151855]
[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 damaging
Transcript: ENSMUST00000116412
AA Change: D179V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112113
Gene: ENSMUSG00000049482
AA Change: D179V
| 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 |
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 damaging
Transcript: ENSMUST00000134127
AA Change: D154V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119237
Gene: ENSMUSG00000049482
AA Change: D154V
| 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 |
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 damaging
Transcript: ENSMUST00000151855
AA Change: D179V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133622
Gene: ENSMUSG00000049482
AA Change: D179V
| 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: 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: ENSMUST00000212499
|
| Coding Region Coverage |
- 1x: 92.5%
- 3x: 90.1%
- 10x: 83.2%
- 20x: 69.0%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
T |
5: 62,811,392 (GRCm39) |
Y1140N |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,873,182 (GRCm39) |
M391K |
probably benign |
Het |
| Cntnap1 |
A |
T |
11: 101,072,123 (GRCm39) |
I459F |
probably damaging |
Het |
| Cr2 |
T |
A |
1: 194,848,617 (GRCm39) |
Y302F |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,473,663 (GRCm39) |
Q427* |
probably null |
Het |
| Depdc7 |
A |
G |
2: 104,558,533 (GRCm39) |
S163P |
probably benign |
Het |
| Eif2s3y |
C |
T |
Y: 1,020,126 (GRCm39) |
R385C |
probably benign |
Het |
| Gigyf1 |
A |
G |
5: 137,522,366 (GRCm39) |
K728R |
unknown |
Het |
| Gm1587 |
G |
A |
14: 78,034,473 (GRCm39) |
R32* |
probably null |
Het |
| Hjv |
T |
C |
3: 96,435,761 (GRCm39) |
C340R |
probably damaging |
Het |
| Isy1 |
A |
G |
6: 87,810,653 (GRCm39) |
I53T |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,180,456 (GRCm39) |
N564I |
probably benign |
Het |
| Neb |
A |
T |
2: 52,135,330 (GRCm39) |
I3260N |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,344,592 (GRCm39) |
G426E |
probably benign |
Het |
| Nrdc |
G |
A |
4: 108,911,222 (GRCm39) |
|
probably null |
Het |
| Or2v1 |
G |
A |
11: 49,025,132 (GRCm39) |
V38M |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,852 (GRCm39) |
S227R |
probably benign |
Het |
| Or4c116 |
C |
A |
2: 88,942,830 (GRCm39) |
E9* |
probably null |
Het |
| Pate8 |
T |
A |
9: 36,492,597 (GRCm39) |
S103C |
possibly damaging |
Het |
| Prss51 |
T |
A |
14: 64,334,546 (GRCm39) |
V91D |
probably damaging |
Het |
| Qpct |
A |
C |
17: 79,389,188 (GRCm39) |
Y280S |
probably benign |
Het |
| Rbpms |
A |
G |
8: 34,296,866 (GRCm39) |
V137A |
possibly damaging |
Het |
| Rgl2 |
T |
A |
17: 34,152,914 (GRCm39) |
M441K |
possibly damaging |
Het |
| Sdhaf3 |
A |
T |
6: 6,956,072 (GRCm39) |
I16F |
possibly damaging |
Het |
| Slc38a3 |
T |
G |
9: 107,534,848 (GRCm39) |
N176H |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,756,785 (GRCm39) |
S256G |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,918,666 (GRCm39) |
C988S |
probably damaging |
Het |
| Sync |
A |
T |
4: 129,200,447 (GRCm39) |
Q451L |
possibly damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,831,329 (GRCm39) |
Y929C |
probably benign |
Het |
| Thbs2 |
G |
A |
17: 14,910,230 (GRCm39) |
T123I |
probably damaging |
Het |
| Thsd7a |
A |
C |
6: 12,331,926 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,749,242 (GRCm39) |
L220P |
probably damaging |
Het |
| Trbv13-2 |
G |
A |
6: 41,098,752 (GRCm39) |
C109Y |
probably damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,306,446 (GRCm39) |
W198* |
probably null |
Het |
| Usp14 |
G |
A |
18: 9,996,189 (GRCm39) |
R464W |
probably damaging |
Het |
| Vmn1r2 |
C |
T |
4: 3,172,162 (GRCm39) |
S27L |
probably benign |
Het |
| Vmn1r68 |
T |
A |
7: 10,261,958 (GRCm39) |
N47Y |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,262,944 (GRCm39) |
Y1719* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACACTGGTTTCCCATGGC -3'
(R):5'- ATGGAGCTGAACAACCTAGAC -3'
Sequencing Primer
(F):5'- CACTGGTTTCCCATGGCATGTG -3'
(R):5'- TAGACAAGGCCTCTGTCTGAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation