Incidental Mutation 'R5487:Uty'
ID |
430434 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uty
|
Ensembl Gene |
ENSMUSG00000068457 |
Gene Name |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
Synonyms |
Hydb |
MMRRC Submission |
043048-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5487 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
Y |
Chromosomal Location |
1096861-1245759 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 1174825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 192
(G192R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069309]
[ENSMUST00000137048]
[ENSMUST00000139365]
[ENSMUST00000143286]
[ENSMUST00000143958]
[ENSMUST00000154004]
[ENSMUST00000154666]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069309
AA Change: G255R
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000070012 Gene: ENSMUSG00000068457 AA Change: G255R
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
32 |
N/A |
INTRINSIC |
TPR
|
88 |
121 |
1.51e1 |
SMART |
TPR
|
125 |
158 |
2.26e-3 |
SMART |
TPR
|
200 |
233 |
2.31e0 |
SMART |
TPR
|
279 |
312 |
6.19e-1 |
SMART |
TPR
|
313 |
346 |
4.21e-3 |
SMART |
TPR
|
347 |
380 |
8.97e0 |
SMART |
Blast:JmjC
|
389 |
470 |
2e-28 |
BLAST |
low complexity region
|
534 |
551 |
N/A |
INTRINSIC |
low complexity region
|
631 |
646 |
N/A |
INTRINSIC |
low complexity region
|
693 |
705 |
N/A |
INTRINSIC |
low complexity region
|
731 |
744 |
N/A |
INTRINSIC |
low complexity region
|
784 |
795 |
N/A |
INTRINSIC |
JmjC
|
907 |
1070 |
5.22e-47 |
SMART |
Blast:JmjC
|
1106 |
1170 |
1e-27 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137048
AA Change: G252R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000119406 Gene: ENSMUSG00000068457 AA Change: G252R
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
29 |
N/A |
INTRINSIC |
TPR
|
85 |
118 |
1.51e1 |
SMART |
TPR
|
122 |
155 |
2.26e-3 |
SMART |
TPR
|
197 |
230 |
2.31e0 |
SMART |
TPR
|
276 |
309 |
6.19e-1 |
SMART |
TPR
|
310 |
343 |
4.21e-3 |
SMART |
TPR
|
344 |
377 |
8.97e0 |
SMART |
Blast:JmjC
|
452 |
647 |
6e-24 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139365
AA Change: G254R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000114752 Gene: ENSMUSG00000068457 AA Change: G254R
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
32 |
N/A |
INTRINSIC |
TPR
|
87 |
120 |
1.51e1 |
SMART |
TPR
|
124 |
157 |
2.26e-3 |
SMART |
TPR
|
199 |
232 |
2.31e0 |
SMART |
TPR
|
278 |
311 |
6.19e-1 |
SMART |
TPR
|
312 |
345 |
4.21e-3 |
SMART |
TPR
|
346 |
379 |
8.97e0 |
SMART |
Blast:JmjC
|
388 |
469 |
2e-28 |
BLAST |
low complexity region
|
533 |
550 |
N/A |
INTRINSIC |
low complexity region
|
630 |
645 |
N/A |
INTRINSIC |
low complexity region
|
692 |
704 |
N/A |
INTRINSIC |
low complexity region
|
730 |
743 |
N/A |
INTRINSIC |
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
JmjC
|
906 |
1069 |
5.22e-47 |
SMART |
Blast:JmjC
|
1105 |
1169 |
1e-27 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000143286
AA Change: G199R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115113 Gene: ENSMUSG00000068457 AA Change: G199R
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
29 |
N/A |
INTRINSIC |
TPR
|
69 |
102 |
2.26e-3 |
SMART |
TPR
|
144 |
177 |
2.31e0 |
SMART |
TPR
|
223 |
256 |
6.19e-1 |
SMART |
TPR
|
257 |
290 |
4.21e-3 |
SMART |
TPR
|
291 |
324 |
8.97e0 |
SMART |
low complexity region
|
433 |
450 |
N/A |
INTRINSIC |
low complexity region
|
530 |
545 |
N/A |
INTRINSIC |
low complexity region
|
592 |
604 |
N/A |
INTRINSIC |
low complexity region
|
630 |
643 |
N/A |
INTRINSIC |
low complexity region
|
683 |
694 |
N/A |
INTRINSIC |
JmjC
|
806 |
969 |
5.22e-47 |
SMART |
Blast:JmjC
|
1005 |
1069 |
1e-27 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143958
|
SMART Domains |
Protein: ENSMUSP00000120069 Gene: ENSMUSG00000068457
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
29 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154004
AA Change: G192R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114910 Gene: ENSMUSG00000068457 AA Change: G192R
Domain | Start | End | E-Value | Type |
TPR
|
25 |
58 |
1.51e1 |
SMART |
TPR
|
62 |
95 |
2.26e-3 |
SMART |
TPR
|
137 |
170 |
2.31e0 |
SMART |
TPR
|
216 |
249 |
6.19e-1 |
SMART |
TPR
|
250 |
283 |
4.21e-3 |
SMART |
TPR
|
284 |
317 |
8.97e0 |
SMART |
Blast:JmjC
|
326 |
407 |
2e-28 |
BLAST |
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
low complexity region
|
568 |
583 |
N/A |
INTRINSIC |
low complexity region
|
630 |
642 |
N/A |
INTRINSIC |
low complexity region
|
668 |
681 |
N/A |
INTRINSIC |
low complexity region
|
721 |
732 |
N/A |
INTRINSIC |
JmjC
|
844 |
1007 |
5.22e-47 |
SMART |
Blast:JmjC
|
1043 |
1107 |
1e-27 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154666
|
SMART Domains |
Protein: ENSMUSP00000122818 Gene: ENSMUSG00000068457
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157073
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mutant male mice hemizygous for a gene trapped allele are viable and fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,844,340 (GRCm39) |
V959A |
probably damaging |
Het |
Alg3 |
A |
T |
16: 20,426,530 (GRCm39) |
I115N |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,888,733 (GRCm39) |
D204G |
probably benign |
Het |
Camta1 |
C |
A |
4: 151,229,211 (GRCm39) |
E540D |
possibly damaging |
Het |
Cblc |
T |
C |
7: 19,518,733 (GRCm39) |
T413A |
probably benign |
Het |
Ccdc122 |
T |
A |
14: 77,329,119 (GRCm39) |
H57Q |
probably benign |
Het |
Ccdc85a |
A |
T |
11: 28,526,768 (GRCm39) |
L280* |
probably null |
Het |
Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
Dnaaf3 |
T |
C |
7: 4,526,864 (GRCm39) |
|
probably null |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Ecpas |
T |
C |
4: 58,809,421 (GRCm39) |
D1651G |
probably benign |
Het |
Eif2ak1 |
A |
G |
5: 143,833,981 (GRCm39) |
|
probably null |
Het |
Erich4 |
A |
G |
7: 25,314,664 (GRCm39) |
M83T |
probably benign |
Het |
Fbxo24 |
C |
T |
5: 137,617,094 (GRCm39) |
G331E |
possibly damaging |
Het |
Fzd4 |
A |
G |
7: 89,056,615 (GRCm39) |
I221V |
probably benign |
Het |
G6pc2 |
T |
C |
2: 69,056,921 (GRCm39) |
V189A |
probably damaging |
Het |
Gm10663 |
A |
C |
8: 65,527,686 (GRCm39) |
E1A |
probably null |
Het |
Gm4871 |
C |
A |
5: 144,967,199 (GRCm39) |
E178D |
probably damaging |
Het |
Igdcc3 |
A |
G |
9: 65,088,866 (GRCm39) |
E415G |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,733,272 (GRCm39) |
|
probably benign |
Het |
Krba1 |
T |
C |
6: 48,380,973 (GRCm39) |
V103A |
probably damaging |
Het |
Lcat |
T |
C |
8: 106,666,296 (GRCm39) |
K409E |
probably benign |
Het |
Lrriq4 |
C |
A |
3: 30,714,144 (GRCm39) |
N497K |
probably benign |
Het |
Mical2 |
A |
G |
7: 111,919,842 (GRCm39) |
T451A |
probably damaging |
Het |
Noxo1 |
C |
T |
17: 24,917,291 (GRCm39) |
|
probably benign |
Het |
Oas1a |
A |
G |
5: 121,045,490 (GRCm39) |
I17T |
probably damaging |
Het |
Otog |
A |
T |
7: 45,938,192 (GRCm39) |
Y1967F |
probably benign |
Het |
Pcdha9 |
A |
T |
18: 37,132,703 (GRCm39) |
N591Y |
probably damaging |
Het |
Plxna4 |
A |
G |
6: 32,494,218 (GRCm39) |
Y133H |
probably damaging |
Het |
Pou5f2 |
T |
C |
13: 78,173,118 (GRCm39) |
L20P |
probably benign |
Het |
Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
Sema3b |
A |
T |
9: 107,478,161 (GRCm39) |
M408K |
probably damaging |
Het |
Serpinf2 |
G |
A |
11: 75,324,031 (GRCm39) |
T332I |
probably damaging |
Het |
Tmbim1 |
A |
G |
1: 74,332,164 (GRCm39) |
V121A |
probably benign |
Het |
Tph2 |
C |
T |
10: 114,955,779 (GRCm39) |
G338D |
probably damaging |
Het |
Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
T |
2: 76,642,896 (GRCm39) |
V13247M |
probably damaging |
Het |
Vmn2r65 |
G |
T |
7: 84,595,529 (GRCm39) |
P385Q |
possibly damaging |
Het |
Wdfy3 |
G |
A |
5: 101,984,140 (GRCm39) |
R3489W |
probably damaging |
Het |
Zfp750 |
A |
G |
11: 121,404,558 (GRCm39) |
S106P |
probably benign |
Het |
|
Other mutations in Uty |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0139:Uty
|
UTSW |
Y |
1,197,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R0277:Uty
|
UTSW |
Y |
1,169,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R0323:Uty
|
UTSW |
Y |
1,169,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R1102:Uty
|
UTSW |
Y |
1,174,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R1256:Uty
|
UTSW |
Y |
1,134,884 (GRCm39) |
missense |
probably damaging |
0.96 |
R1499:Uty
|
UTSW |
Y |
1,197,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1534:Uty
|
UTSW |
Y |
1,245,440 (GRCm39) |
missense |
probably benign |
0.41 |
R1643:Uty
|
UTSW |
Y |
1,152,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R2070:Uty
|
UTSW |
Y |
1,169,193 (GRCm39) |
missense |
probably benign |
0.28 |
R2101:Uty
|
UTSW |
Y |
1,176,541 (GRCm39) |
missense |
probably damaging |
0.99 |
R2146:Uty
|
UTSW |
Y |
1,239,816 (GRCm39) |
missense |
probably benign |
0.25 |
R2508:Uty
|
UTSW |
Y |
1,158,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R3036:Uty
|
UTSW |
Y |
1,099,671 (GRCm39) |
nonsense |
probably null |
|
R3437:Uty
|
UTSW |
Y |
1,158,336 (GRCm39) |
missense |
probably benign |
0.38 |
R3547:Uty
|
UTSW |
Y |
1,158,512 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4153:Uty
|
UTSW |
Y |
1,158,327 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4388:Uty
|
UTSW |
Y |
1,151,956 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4467:Uty
|
UTSW |
Y |
1,158,372 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4607:Uty
|
UTSW |
Y |
1,131,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R4608:Uty
|
UTSW |
Y |
1,131,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R4684:Uty
|
UTSW |
Y |
1,176,502 (GRCm39) |
nonsense |
probably null |
|
R4948:Uty
|
UTSW |
Y |
1,136,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R5129:Uty
|
UTSW |
Y |
1,158,592 (GRCm39) |
missense |
probably benign |
0.13 |
R5387:Uty
|
UTSW |
Y |
1,189,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R5408:Uty
|
UTSW |
Y |
1,245,614 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5677:Uty
|
UTSW |
Y |
1,134,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R5806:Uty
|
UTSW |
Y |
1,170,921 (GRCm39) |
missense |
probably damaging |
0.99 |
R6047:Uty
|
UTSW |
Y |
1,158,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R6092:Uty
|
UTSW |
Y |
1,174,836 (GRCm39) |
missense |
probably benign |
0.08 |
R6759:Uty
|
UTSW |
Y |
1,174,735 (GRCm39) |
missense |
probably damaging |
0.98 |
R6761:Uty
|
UTSW |
Y |
1,186,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R6949:Uty
|
UTSW |
Y |
1,240,000 (GRCm39) |
splice site |
probably null |
|
R7177:Uty
|
UTSW |
Y |
1,099,691 (GRCm39) |
missense |
probably benign |
0.33 |
R7251:Uty
|
UTSW |
Y |
1,154,262 (GRCm39) |
missense |
probably benign |
|
R7469:Uty
|
UTSW |
Y |
1,131,072 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7582:Uty
|
UTSW |
Y |
1,170,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R7686:Uty
|
UTSW |
Y |
1,158,075 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7826:Uty
|
UTSW |
Y |
1,137,716 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7962:Uty
|
UTSW |
Y |
1,154,210 (GRCm39) |
nonsense |
probably null |
|
R8225:Uty
|
UTSW |
Y |
1,158,634 (GRCm39) |
missense |
probably benign |
|
R8354:Uty
|
UTSW |
Y |
1,157,928 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8966:Uty
|
UTSW |
Y |
1,099,748 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9365:Uty
|
UTSW |
Y |
1,099,712 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9367:Uty
|
UTSW |
Y |
1,099,584 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Predicted Primers |
PCR Primer
(F):5'- GTATAGGGAACTTTCGGGATAGC -3'
(R):5'- AACCATTGCCTGTTGGGTAC -3'
Sequencing Primer
(F):5'- GAACTTTCGGGATAGCATTTGAAATG -3'
(R):5'- GTCTTACCAAGTAGCACTGGC -3'
|
Posted On |
2016-10-05 |