Incidental Mutation 'R6047:Uty'
ID |
483364 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uty
|
Ensembl Gene |
ENSMUSG00000068457 |
Gene Name |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
Synonyms |
Hydb |
MMRRC Submission |
044215-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6047 (G1)
|
Quality Score |
221.999 |
Status
|
Validated
|
Chromosome |
Y |
Chromosomal Location |
1096861-1245759 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 1158288 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 538
(P538Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119406
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069309]
[ENSMUST00000137048]
[ENSMUST00000139365]
[ENSMUST00000143286]
[ENSMUST00000143958]
[ENSMUST00000154004]
[ENSMUST00000154666]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069309
AA Change: P586Q
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000070012 Gene: ENSMUSG00000068457 AA Change: P586Q
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 |
noncoding transcript
Transcript: ENSMUST00000133976
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137048
AA Change: P538Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119406 Gene: ENSMUSG00000068457 AA Change: P538Q
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: P585Q
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114752 Gene: ENSMUSG00000068457 AA Change: P585Q
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: P485Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115113 Gene: ENSMUSG00000068457 AA Change: P485Q
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 benign
Transcript: ENSMUST00000154004
AA Change: P523Q
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000114910 Gene: ENSMUSG00000068457 AA Change: P523Q
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (36/36) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,856,066 (GRCm39) |
I58T |
probably damaging |
Het |
Adgrb2 |
G |
T |
4: 129,912,498 (GRCm39) |
G1208C |
probably damaging |
Het |
Antxrl |
T |
C |
14: 33,775,433 (GRCm39) |
|
probably benign |
Het |
Appl2 |
C |
T |
10: 83,448,765 (GRCm39) |
|
probably null |
Het |
Bloc1s2 |
T |
C |
19: 44,130,629 (GRCm39) |
I112V |
possibly damaging |
Het |
Cblb |
G |
T |
16: 51,932,611 (GRCm39) |
|
probably null |
Het |
Cdk9 |
T |
C |
2: 32,598,285 (GRCm39) |
|
probably null |
Het |
Dok7 |
G |
A |
5: 35,236,651 (GRCm39) |
G206D |
probably damaging |
Het |
Ftsj3 |
C |
T |
11: 106,143,144 (GRCm39) |
R390H |
probably damaging |
Het |
Gpr179 |
G |
T |
11: 97,229,242 (GRCm39) |
P971Q |
probably damaging |
Het |
Hic1 |
A |
T |
11: 75,057,675 (GRCm39) |
S405T |
possibly damaging |
Het |
Ifngr1 |
T |
C |
10: 19,482,061 (GRCm39) |
L217P |
probably damaging |
Het |
Insrr |
A |
G |
3: 87,711,483 (GRCm39) |
K468E |
probably damaging |
Het |
Lce1j |
G |
C |
3: 92,696,503 (GRCm39) |
R92G |
unknown |
Het |
Lrp12 |
T |
C |
15: 39,735,463 (GRCm39) |
E823G |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,527,787 (GRCm39) |
I98T |
probably benign |
Het |
Mbd3l2 |
A |
T |
9: 18,356,212 (GRCm39) |
H179L |
possibly damaging |
Het |
Med24 |
A |
T |
11: 98,598,591 (GRCm39) |
C691* |
probably null |
Het |
Mical1 |
T |
C |
10: 41,357,703 (GRCm39) |
|
probably null |
Het |
Msantd2 |
A |
T |
9: 37,434,738 (GRCm39) |
Y326F |
probably damaging |
Het |
Nfyc |
T |
A |
4: 120,636,314 (GRCm39) |
|
probably null |
Het |
Nrg3 |
T |
A |
14: 38,119,309 (GRCm39) |
|
probably null |
Het |
Nt5c3 |
G |
A |
6: 56,859,964 (GRCm39) |
S291L |
probably damaging |
Het |
Pak4 |
A |
G |
7: 28,262,461 (GRCm39) |
Y384H |
probably benign |
Het |
Pdia5 |
T |
C |
16: 35,217,848 (GRCm39) |
K512E |
probably damaging |
Het |
Pfpl |
T |
C |
19: 12,406,597 (GRCm39) |
F283L |
probably damaging |
Het |
Pick1 |
A |
G |
15: 79,139,895 (GRCm39) |
|
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,814,059 (GRCm39) |
V4143A |
probably damaging |
Het |
Ptprc |
C |
T |
1: 138,028,779 (GRCm39) |
|
probably null |
Het |
Scn10a |
A |
G |
9: 119,451,897 (GRCm39) |
F1342S |
probably benign |
Het |
Slc17a7 |
A |
T |
7: 44,822,830 (GRCm39) |
I436F |
probably benign |
Het |
Slc34a1 |
G |
T |
13: 55,559,884 (GRCm39) |
A403S |
probably damaging |
Het |
Stmn3 |
A |
T |
2: 180,950,952 (GRCm39) |
Y35N |
possibly damaging |
Het |
Tldc2 |
A |
G |
2: 156,938,382 (GRCm39) |
E207G |
probably damaging |
Het |
Unc79 |
A |
G |
12: 103,027,717 (GRCm39) |
N436S |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,756,921 (GRCm39) |
D1142G |
probably damaging |
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 |
R5487:Uty
|
UTSW |
Y |
1,174,825 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TTCTGTGGAAATGGCTGAAGAG -3'
(R):5'- GGGGATGCTCAAAATCACTTCTTAC -3'
Sequencing Primer
(F):5'- GGGTGAAGAAGCAGAAAGATTATC -3'
(R):5'- TTACGTATTCCTACCTCAGAAGAAC -3'
|
Posted On |
2017-07-14 |