Incidental Mutation 'R1102:Uty'
| ID |
98229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uty
|
| Ensembl Gene |
ENSMUSG00000068457 |
| Gene Name |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
| Synonyms |
Hydb |
| MMRRC Submission |
039175-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1102 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
Y |
| Chromosomal Location |
1096861-1245759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 1174741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 220
(Y220N)
|
| 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 |
probably damaging
Transcript: ENSMUST00000069309
AA Change: Y283N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: Y283N
| 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: Y280N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119406
Gene: ENSMUSG00000068457
AA Change: Y280N
| 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: Y282N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: Y282N
| 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 |
possibly damaging
Transcript: ENSMUST00000143286
AA Change: Y227N
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: Y227N
| 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: Y220N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: Y220N
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.8%
|
| Validation Efficiency |
98% (60/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
C |
T |
17: 9,211,460 (GRCm39) |
T203M |
probably damaging |
Het |
| Acy3 |
C |
T |
19: 4,037,850 (GRCm39) |
T119I |
probably damaging |
Het |
| Ccdc6 |
C |
A |
10: 70,023,636 (GRCm39) |
H400Q |
possibly damaging |
Het |
| Ccna1 |
T |
C |
3: 54,958,281 (GRCm39) |
D134G |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,896,545 (GRCm39) |
|
probably null |
Het |
| Cd36 |
A |
G |
5: 18,019,211 (GRCm39) |
F170S |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,807,264 (GRCm39) |
P718S |
probably damaging |
Het |
| Cimip1 |
T |
A |
2: 173,364,516 (GRCm39) |
D20E |
probably damaging |
Het |
| Ctnna3 |
A |
T |
10: 64,421,774 (GRCm39) |
I523L |
probably benign |
Het |
| Dnah1 |
G |
T |
14: 31,018,414 (GRCm39) |
Y1405* |
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,073,738 (GRCm39) |
|
probably null |
Het |
| Drd3 |
T |
C |
16: 43,582,846 (GRCm39) |
L113S |
probably damaging |
Het |
| Emsy |
T |
C |
7: 98,251,796 (GRCm39) |
T735A |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,381,434 (GRCm39) |
|
probably benign |
Het |
| Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
| Fbxo10 |
A |
G |
4: 45,043,672 (GRCm39) |
L717P |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,671,871 (GRCm39) |
|
probably benign |
Het |
| Gle1 |
T |
G |
2: 29,834,066 (GRCm39) |
I437M |
possibly damaging |
Het |
| Gpr137b |
T |
C |
13: 13,539,616 (GRCm39) |
|
probably benign |
Het |
| Gsta1 |
T |
C |
9: 78,149,777 (GRCm39) |
F197L |
probably damaging |
Het |
| Icam1 |
G |
A |
9: 20,939,132 (GRCm39) |
V502M |
possibly damaging |
Het |
| Ido1 |
T |
A |
8: 25,083,156 (GRCm39) |
I90F |
probably damaging |
Het |
| Il4ra |
G |
A |
7: 125,173,889 (GRCm39) |
|
probably null |
Het |
| Med12l |
T |
A |
3: 59,152,257 (GRCm39) |
M1014K |
probably damaging |
Het |
| Mmp13 |
A |
G |
9: 7,272,952 (GRCm39) |
E104G |
possibly damaging |
Het |
| Mms19 |
T |
C |
19: 41,939,284 (GRCm39) |
E495G |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,231,647 (GRCm39) |
I820V |
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,440,923 (GRCm39) |
K286E |
possibly damaging |
Het |
| Ndrg1 |
T |
C |
15: 66,816,685 (GRCm39) |
Y110C |
probably damaging |
Het |
| Or1e1c |
G |
A |
11: 73,265,700 (GRCm39) |
V45I |
probably benign |
Het |
| Or4a78 |
A |
T |
2: 89,497,814 (GRCm39) |
C139S |
probably damaging |
Het |
| Or5b118 |
T |
C |
19: 13,448,771 (GRCm39) |
C146R |
probably damaging |
Het |
| Or5b3 |
G |
A |
19: 13,388,454 (GRCm39) |
V174M |
probably damaging |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Pdzd4 |
G |
A |
X: 72,839,052 (GRCm39) |
R419C |
probably damaging |
Het |
| Pnpla7 |
G |
T |
2: 24,886,177 (GRCm39) |
M3I |
probably damaging |
Het |
| Popdc3 |
A |
G |
10: 45,192,642 (GRCm39) |
|
probably benign |
Het |
| Ppp5c |
A |
G |
7: 16,756,368 (GRCm39) |
F112S |
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,678,313 (GRCm39) |
T754A |
possibly damaging |
Het |
| Reep6 |
A |
G |
10: 80,171,080 (GRCm39) |
T319A |
probably benign |
Het |
| Rfx3 |
A |
G |
19: 27,845,000 (GRCm39) |
V43A |
possibly damaging |
Het |
| Rint1 |
A |
G |
5: 24,010,565 (GRCm39) |
|
probably benign |
Het |
| Sacm1l |
T |
G |
9: 123,411,363 (GRCm39) |
V384G |
probably damaging |
Het |
| Shox2 |
A |
T |
3: 66,885,628 (GRCm39) |
L149Q |
probably damaging |
Het |
| Sipa1 |
T |
C |
19: 5,702,782 (GRCm39) |
H805R |
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,059,082 (GRCm39) |
D1095G |
probably benign |
Het |
| Slc5a3 |
G |
T |
16: 91,874,765 (GRCm39) |
W274L |
probably damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,857,118 (GRCm39) |
T919A |
probably benign |
Het |
| Sptbn1 |
G |
T |
11: 30,070,785 (GRCm39) |
H1524Q |
possibly damaging |
Het |
| Ssr1 |
G |
T |
13: 38,171,591 (GRCm39) |
Q149K |
probably benign |
Het |
| Taf7l2 |
T |
C |
10: 115,949,299 (GRCm39) |
S76G |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,555,701 (GRCm39) |
D61G |
possibly damaging |
Het |
| Tmem245 |
T |
C |
4: 56,903,200 (GRCm39) |
|
probably benign |
Het |
| Tmem74 |
T |
C |
15: 43,730,186 (GRCm39) |
T286A |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,938,705 (GRCm39) |
N45D |
probably benign |
Het |
| Trdmt1 |
T |
G |
2: 13,528,225 (GRCm39) |
|
probably benign |
Het |
| Vdr |
T |
C |
15: 97,757,002 (GRCm39) |
Y290C |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,313,132 (GRCm39) |
M734K |
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,332,410 (GRCm39) |
D413G |
possibly damaging |
Het |
| Vps45 |
A |
G |
3: 95,950,253 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-05 |
Incidental Mutation