Incidental Mutation 'R6759:Uty'
| ID |
531173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uty
|
| Ensembl Gene |
ENSMUSG00000068457 |
| Gene Name |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
| Synonyms |
Hydb |
| MMRRC Submission |
044875-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6759 (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 1174735 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 222
(L222I)
|
| 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: L285I
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: L285I
| 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: L282I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119406
Gene: ENSMUSG00000068457
AA Change: L282I
| 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: L284I
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: L284I
| 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: L229I
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: L229I
| 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: L222I
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: L222I
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (49/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,331,692 (GRCm39) |
S841G |
probably benign |
Het |
| 4933427I04Rik |
G |
T |
4: 123,753,879 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,921,399 (GRCm39) |
T199A |
probably damaging |
Het |
| Acnat2 |
C |
A |
4: 49,380,254 (GRCm39) |
V375L |
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,677,320 (GRCm39) |
T434A |
possibly damaging |
Het |
| Aldh3a2 |
T |
C |
11: 61,156,088 (GRCm39) |
T63A |
probably benign |
Het |
| Anxa2 |
T |
C |
9: 69,391,103 (GRCm39) |
S97P |
probably damaging |
Het |
| Apip |
T |
C |
2: 102,922,191 (GRCm39) |
S186P |
probably benign |
Het |
| Apob |
A |
G |
12: 8,061,049 (GRCm39) |
K3177R |
probably benign |
Het |
| Atm |
C |
T |
9: 53,429,859 (GRCm39) |
W392* |
probably null |
Het |
| Atp8b1 |
T |
A |
18: 64,679,161 (GRCm39) |
R773S |
probably benign |
Het |
| Bicdl2 |
T |
A |
17: 23,885,718 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
C |
T |
3: 37,042,234 (GRCm39) |
T2740I |
possibly damaging |
Het |
| Cacng3 |
G |
A |
7: 122,361,547 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
G |
T |
3: 144,455,450 (GRCm39) |
L448M |
probably damaging |
Het |
| Clk4 |
A |
G |
11: 51,166,401 (GRCm39) |
I94M |
possibly damaging |
Het |
| Cnot3 |
G |
T |
7: 3,654,918 (GRCm39) |
V124F |
probably damaging |
Het |
| Cyp4a30b |
C |
T |
4: 115,318,571 (GRCm39) |
A426V |
probably benign |
Het |
| Dact1 |
T |
A |
12: 71,364,911 (GRCm39) |
L564* |
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,882,266 (GRCm39) |
|
probably null |
Het |
| Dock5 |
T |
A |
14: 68,033,445 (GRCm39) |
T975S |
probably benign |
Het |
| Dock8 |
C |
A |
19: 25,104,848 (GRCm39) |
H739Q |
probably damaging |
Het |
| Efr3b |
T |
A |
12: 4,034,613 (GRCm39) |
N186Y |
probably damaging |
Het |
| Enam |
G |
A |
5: 88,649,550 (GRCm39) |
G278D |
probably damaging |
Het |
| Fgl2 |
A |
G |
5: 21,578,256 (GRCm39) |
D181G |
probably benign |
Het |
| Gfra3 |
G |
T |
18: 34,828,926 (GRCm39) |
S156* |
probably null |
Het |
| Jam3 |
G |
C |
9: 27,013,276 (GRCm39) |
T98S |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,834,184 (GRCm39) |
I1435N |
probably damaging |
Het |
| Man2a1 |
G |
A |
17: 64,932,383 (GRCm39) |
A157T |
probably benign |
Het |
| Mcm3ap |
T |
A |
10: 76,337,148 (GRCm39) |
V1361E |
probably benign |
Het |
| Nobox |
A |
T |
6: 43,284,538 (GRCm39) |
L36Q |
possibly damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,277,100 (GRCm39) |
M198L |
probably benign |
Het |
| Or51a10 |
A |
G |
7: 103,699,334 (GRCm39) |
S76P |
probably damaging |
Het |
| Parp4 |
G |
A |
14: 56,857,947 (GRCm39) |
V860I |
probably benign |
Het |
| Pim3 |
T |
A |
15: 88,747,296 (GRCm39) |
|
probably null |
Het |
| Ptpn13 |
A |
T |
5: 103,713,121 (GRCm39) |
N1748I |
possibly damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,145 (GRCm39) |
T356A |
possibly damaging |
Het |
| Ranbp2 |
C |
T |
10: 58,293,559 (GRCm39) |
R310* |
probably null |
Het |
| Rassf5 |
C |
T |
1: 131,109,988 (GRCm39) |
V190I |
probably benign |
Het |
| Rgl1 |
T |
G |
1: 152,409,281 (GRCm39) |
Q481P |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,276,063 (GRCm39) |
T537A |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,063,699 (GRCm39) |
S395R |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Strn4 |
A |
T |
7: 16,556,978 (GRCm39) |
E145V |
probably damaging |
Het |
| Tex21 |
T |
A |
12: 76,251,086 (GRCm39) |
|
probably null |
Het |
| Usp37 |
G |
A |
1: 74,534,908 (GRCm39) |
R13* |
probably null |
Het |
| Wwp2 |
A |
G |
8: 108,267,314 (GRCm39) |
T309A |
probably damaging |
Het |
| Zfp40 |
C |
T |
17: 23,395,510 (GRCm39) |
R359H |
possibly 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 |
|
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 |
|
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'- GGAACTTTCGGGATAGCATTTG -3'
(R):5'- GGAAAACCATTGCCTGTTGGG -3'
Sequencing Primer
(F):5'- GAACTTTCGGGATAGCATTTGAAATG -3'
(R):5'- GCCTGAAACTCACTGTGTAGATG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation