Incidental Mutation 'R4153:Uty'
ID |
315022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uty
|
Ensembl Gene |
ENSMUSG00000068457 |
Gene Name |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
Synonyms |
Hydb |
MMRRC Submission |
040997-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4153 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
Y |
Chromosomal Location |
1096861-1245759 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 1158327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 572
(V572A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114752
(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: V573A
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000070012 Gene: ENSMUSG00000068457 AA Change: V573A
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 benign
Transcript: ENSMUST00000137048
AA Change: V525A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000119406 Gene: ENSMUSG00000068457 AA Change: V525A
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 |
possibly damaging
Transcript: ENSMUST00000139365
AA Change: V572A
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000114752 Gene: ENSMUSG00000068457 AA Change: V572A
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 benign
Transcript: ENSMUST00000143286
AA Change: V472A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000115113 Gene: ENSMUSG00000068457 AA Change: V472A
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: V510A
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000114910 Gene: ENSMUSG00000068457 AA Change: V510A
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
96% (53/55) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,341,292 (GRCm39) |
V47A |
probably benign |
Het |
4932414N04Rik |
A |
T |
2: 68,498,941 (GRCm39) |
|
probably benign |
Het |
Acat2 |
T |
A |
17: 13,171,153 (GRCm39) |
H159L |
possibly damaging |
Het |
Acsl5 |
A |
G |
19: 55,269,895 (GRCm39) |
E253G |
probably benign |
Het |
Adam34l |
T |
A |
8: 44,079,564 (GRCm39) |
Y220F |
probably benign |
Het |
Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
Ebf2 |
T |
G |
14: 67,472,672 (GRCm39) |
V30G |
probably damaging |
Het |
Erlin1 |
T |
A |
19: 44,056,056 (GRCm39) |
T60S |
probably benign |
Het |
Fanca |
A |
G |
8: 124,031,617 (GRCm39) |
V358A |
possibly damaging |
Het |
Fastkd3 |
T |
C |
13: 68,738,257 (GRCm39) |
F602S |
probably damaging |
Het |
Fras1 |
C |
A |
5: 96,924,594 (GRCm39) |
N3678K |
probably benign |
Het |
Gopc |
T |
C |
10: 52,225,239 (GRCm39) |
I277V |
probably damaging |
Het |
Gpd2 |
A |
G |
2: 57,245,783 (GRCm39) |
T438A |
probably damaging |
Het |
Gzma |
T |
C |
13: 113,232,802 (GRCm39) |
K97E |
possibly damaging |
Het |
Gzmn |
T |
A |
14: 56,405,299 (GRCm39) |
T62S |
probably damaging |
Het |
Hip1 |
T |
C |
5: 135,441,560 (GRCm39) |
E570G |
probably damaging |
Het |
Hs3st6 |
T |
C |
17: 24,977,339 (GRCm39) |
V273A |
possibly damaging |
Het |
Jarid2 |
C |
A |
13: 45,063,902 (GRCm39) |
S873R |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Mast2 |
T |
C |
4: 116,173,160 (GRCm39) |
N548S |
possibly damaging |
Het |
Mthfr |
G |
T |
4: 148,135,932 (GRCm39) |
R335L |
probably damaging |
Het |
Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,408,564 (GRCm39) |
L808P |
probably damaging |
Het |
Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
Or56a3b |
A |
T |
7: 104,771,516 (GRCm39) |
H284L |
probably damaging |
Het |
Or8g52 |
A |
C |
9: 39,631,296 (GRCm39) |
M258L |
probably benign |
Het |
Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
Pigk |
G |
A |
3: 152,445,766 (GRCm39) |
V126I |
probably damaging |
Het |
Plcl2 |
A |
T |
17: 50,913,389 (GRCm39) |
K133* |
probably null |
Het |
Pofut2 |
A |
G |
10: 77,104,500 (GRCm39) |
K426E |
probably benign |
Het |
Rbpj |
T |
A |
5: 53,806,789 (GRCm39) |
H230Q |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,300,308 (GRCm39) |
K269E |
probably benign |
Het |
Shh |
A |
T |
5: 28,662,947 (GRCm39) |
I407N |
probably damaging |
Het |
Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
Svep1 |
A |
T |
4: 58,089,426 (GRCm39) |
F1661Y |
possibly damaging |
Het |
Tep1 |
G |
A |
14: 51,075,051 (GRCm39) |
H1755Y |
possibly damaging |
Het |
Thrap3 |
A |
C |
4: 126,067,235 (GRCm39) |
|
probably null |
Het |
Thumpd1 |
C |
T |
7: 119,319,816 (GRCm39) |
C50Y |
probably damaging |
Het |
Tmem131 |
T |
C |
1: 36,847,874 (GRCm39) |
|
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,751,747 (GRCm39) |
D1368G |
possibly damaging |
Het |
Tubd1 |
G |
A |
11: 86,440,296 (GRCm39) |
G107S |
probably damaging |
Het |
Ugt1a6a |
A |
G |
1: 88,066,193 (GRCm39) |
|
probably null |
Het |
Vmn1r171 |
A |
G |
7: 23,332,077 (GRCm39) |
K89E |
probably damaging |
Het |
Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
Vmn2r106 |
A |
G |
17: 20,488,080 (GRCm39) |
L773P |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,792,173 (GRCm39) |
|
probably null |
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 |
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 |
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'- TTCTGTGGAAATGGCTGAAGAG -3'
(R):5'- GGGGATGCTCAAAATCACTTC -3'
Sequencing Primer
(F):5'- AGCAGAAAGATTATCAGGCTTTTTG -3'
(R):5'- GGGGATGCTCAAAATCACTTCTTACG -3'
|
Posted On |
2015-05-14 |