Incidental Mutation 'R1534:Uty'
ID |
166852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uty
|
Ensembl Gene |
ENSMUSG00000068457 |
Gene Name |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
Synonyms |
Hydb |
MMRRC Submission |
039573-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1534 (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 1245440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 35
(V35A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115113
(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 benign
Transcript: ENSMUST00000069309
AA Change: V38A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000070012 Gene: ENSMUSG00000068457 AA Change: V38A
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 benign
Transcript: ENSMUST00000137048
AA Change: V35A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000119406 Gene: ENSMUSG00000068457 AA Change: V35A
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 benign
Transcript: ENSMUST00000139365
AA Change: V38A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000114752 Gene: ENSMUSG00000068457 AA Change: V38A
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: V35A
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000115113 Gene: ENSMUSG00000068457 AA Change: V35A
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 |
unknown
Transcript: ENSMUST00000143958
AA Change: V35A
|
SMART Domains |
Protein: ENSMUSP00000120069 Gene: ENSMUSG00000068457 AA Change: V35A
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
29 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000150715
AA Change: V9A
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154004
|
SMART Domains |
Protein: ENSMUSP00000114910 Gene: ENSMUSG00000068457
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
AA Change: V38A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000122818 Gene: ENSMUSG00000068457 AA Change: V38A
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157073
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154527
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
Validation Efficiency |
98% (52/53) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
T |
C |
1: 165,345,881 (GRCm39) |
I310T |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 35,073,629 (GRCm39) |
V469A |
possibly damaging |
Het |
Agrn |
C |
T |
4: 156,261,141 (GRCm39) |
C652Y |
probably damaging |
Het |
Ankfn1 |
C |
T |
11: 89,413,977 (GRCm39) |
V133M |
probably damaging |
Het |
Ankrd13c |
A |
G |
3: 157,706,757 (GRCm39) |
T448A |
probably benign |
Het |
Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
B4galt2 |
T |
C |
4: 117,734,669 (GRCm39) |
H233R |
probably damaging |
Het |
Bpifb5 |
T |
G |
2: 154,071,419 (GRCm39) |
Y249D |
possibly damaging |
Het |
Brd1 |
T |
C |
15: 88,573,866 (GRCm39) |
I1078V |
possibly damaging |
Het |
Celsr3 |
A |
G |
9: 108,726,083 (GRCm39) |
E3104G |
probably damaging |
Het |
Cyp2c69 |
T |
A |
19: 39,839,593 (GRCm39) |
K343N |
probably benign |
Het |
Cyp4f18 |
T |
A |
8: 72,746,799 (GRCm39) |
D331V |
probably damaging |
Het |
D130040H23Rik |
T |
C |
8: 69,755,378 (GRCm39) |
V261A |
possibly damaging |
Het |
Dchs1 |
T |
C |
7: 105,421,247 (GRCm39) |
D391G |
probably damaging |
Het |
Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
Fat4 |
T |
C |
3: 38,944,238 (GRCm39) |
F1044L |
probably damaging |
Het |
Frrs1 |
A |
T |
3: 116,672,057 (GRCm39) |
T52S |
probably benign |
Het |
Gan |
G |
A |
8: 117,914,168 (GRCm39) |
V189I |
probably benign |
Het |
Hnf1b |
A |
G |
11: 83,784,409 (GRCm39) |
|
probably benign |
Het |
Itgae |
T |
C |
11: 73,036,431 (GRCm39) |
I1123T |
possibly damaging |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Lrrc18 |
A |
G |
14: 32,730,478 (GRCm39) |
K6E |
possibly damaging |
Het |
Map2 |
G |
A |
1: 66,452,339 (GRCm39) |
V492I |
probably benign |
Het |
Mtr |
A |
T |
13: 12,250,430 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
G |
T |
11: 62,269,330 (GRCm39) |
A689E |
possibly damaging |
Het |
Or52n2c |
G |
A |
7: 104,574,621 (GRCm39) |
L117F |
possibly damaging |
Het |
Or5w22 |
T |
A |
2: 87,363,016 (GRCm39) |
V213D |
probably damaging |
Het |
Palm |
T |
G |
10: 79,652,737 (GRCm39) |
V42G |
probably damaging |
Het |
Pcm1 |
G |
A |
8: 41,740,738 (GRCm39) |
V995I |
probably benign |
Het |
Pfkp |
A |
G |
13: 6,669,574 (GRCm39) |
V215A |
probably damaging |
Het |
Prkg2 |
T |
C |
5: 99,142,420 (GRCm39) |
Y238C |
probably damaging |
Het |
Prr14 |
C |
T |
7: 127,073,154 (GRCm39) |
A167V |
probably benign |
Het |
Ptprn |
A |
C |
1: 75,234,587 (GRCm39) |
|
probably null |
Het |
Rexo2 |
A |
T |
9: 48,380,190 (GRCm39) |
I214N |
probably damaging |
Het |
Rrbp1 |
A |
G |
2: 143,830,233 (GRCm39) |
S645P |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Satb2 |
A |
T |
1: 56,987,392 (GRCm39) |
C64* |
probably null |
Het |
Sez6 |
A |
G |
11: 77,853,871 (GRCm39) |
Y347C |
probably damaging |
Het |
Sos2 |
A |
G |
12: 69,663,729 (GRCm39) |
I585T |
probably damaging |
Het |
Spg11 |
G |
A |
2: 121,922,806 (GRCm39) |
T881M |
probably damaging |
Het |
Tiam1 |
A |
T |
16: 89,664,396 (GRCm39) |
|
probably null |
Het |
Tlcd5 |
A |
G |
9: 43,022,923 (GRCm39) |
W126R |
probably damaging |
Het |
Top1 |
T |
C |
2: 160,556,152 (GRCm39) |
I537T |
probably damaging |
Het |
Trappc6a |
A |
G |
7: 19,248,138 (GRCm39) |
S33G |
probably benign |
Het |
Tspan11 |
G |
C |
6: 127,926,768 (GRCm39) |
V239L |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,155,462 (GRCm39) |
V2190A |
possibly damaging |
Het |
Usp28 |
A |
G |
9: 48,896,806 (GRCm39) |
D9G |
possibly damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,427,954 (GRCm39) |
S771P |
probably benign |
Het |
Wars2 |
C |
T |
3: 99,124,177 (GRCm39) |
A346V |
probably damaging |
Het |
Wdr87-ps |
G |
T |
7: 29,229,854 (GRCm39) |
|
noncoding transcript |
Het |
Zfp142 |
G |
T |
1: 74,611,247 (GRCm39) |
N849K |
probably benign |
Het |
Zfp180 |
A |
T |
7: 23,800,948 (GRCm39) |
N66I |
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 |
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 |
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'- CAAGAACCCGAAGAAGCTGCTGTG -3'
(R):5'- GGTAATGTGACCAGATAGCCTCTGC -3'
Sequencing Primer
(F):5'- CTGTGGAAGAAATACATGGCTCTTG -3'
(R):5'- AGATAGCCTCTGCCGCTTTC -3'
|
Posted On |
2014-04-13 |