Incidental Mutation 'R5129:Uty'
| ID |
394934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uty
|
| Ensembl Gene |
ENSMUSG00000068457 |
| Gene Name |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
| Synonyms |
Hydb |
| MMRRC Submission |
042717-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5129 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
Y |
| Chromosomal Location |
1096861-1245759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 1158592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 484
(T484A)
|
| 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 |
probably benign
Transcript: ENSMUST00000069309
AA Change: T485A
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: T485A
| 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: T437A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119406
Gene: ENSMUSG00000068457
AA Change: T437A
| 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: T484A
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: T484A
| 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: T384A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: T384A
| 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: T422A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: T422A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (51/52) |
| 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 |
|---|
| 4930432E11Rik |
A |
G |
7: 29,260,786 (GRCm39) |
|
noncoding transcript |
Het |
| Abcf1 |
C |
T |
17: 36,271,687 (GRCm39) |
|
probably benign |
Het |
| Adamts14 |
T |
A |
10: 61,085,397 (GRCm39) |
D209V |
probably benign |
Het |
| Aldh3b1 |
A |
G |
19: 3,965,336 (GRCm39) |
F392L |
probably benign |
Het |
| Atp1a2 |
A |
T |
1: 172,103,522 (GRCm39) |
D999E |
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,066,468 (GRCm39) |
V94A |
probably damaging |
Het |
| Cdh13 |
A |
G |
8: 119,821,954 (GRCm39) |
D271G |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,306,815 (GRCm39) |
G844D |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,890,576 (GRCm39) |
E1906G |
probably damaging |
Het |
| Daw1 |
T |
C |
1: 83,183,624 (GRCm39) |
Y225H |
probably damaging |
Het |
| Dvl3 |
T |
A |
16: 20,336,090 (GRCm39) |
M49K |
possibly damaging |
Het |
| Eef1b2 |
T |
G |
1: 63,218,739 (GRCm39) |
S175A |
probably damaging |
Het |
| Epb41l1 |
A |
T |
2: 156,351,201 (GRCm39) |
Y425F |
possibly damaging |
Het |
| Fam43b |
A |
T |
4: 138,122,783 (GRCm39) |
L179* |
probably null |
Het |
| Fbxw28 |
A |
G |
9: 109,155,671 (GRCm39) |
L314P |
probably damaging |
Het |
| Fstl4 |
C |
A |
11: 53,077,266 (GRCm39) |
D674E |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,379,942 (GRCm39) |
V92A |
possibly damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,588 (GRCm39) |
Y257N |
probably benign |
Het |
| Gm5900 |
A |
G |
7: 104,599,223 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
G |
A |
5: 121,481,573 (GRCm39) |
V3041M |
possibly damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,608 (GRCm39) |
K1069E |
probably damaging |
Het |
| Hlf |
T |
C |
11: 90,281,078 (GRCm39) |
D38G |
probably benign |
Het |
| Hsd3b7 |
C |
A |
7: 127,400,306 (GRCm39) |
C18* |
probably null |
Het |
| Kdm5a |
T |
C |
6: 120,381,983 (GRCm39) |
C676R |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,272,751 (GRCm39) |
Y1211C |
probably damaging |
Het |
| Krt78 |
C |
A |
15: 101,856,015 (GRCm39) |
V599L |
possibly damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,440,961 (GRCm39) |
L1097P |
probably damaging |
Het |
| Nf2 |
A |
C |
11: 4,766,145 (GRCm39) |
D87E |
probably benign |
Het |
| Or10d4c |
T |
A |
9: 39,558,790 (GRCm39) |
I256N |
probably benign |
Het |
| Or14j2 |
T |
C |
17: 37,886,071 (GRCm39) |
Y81C |
probably damaging |
Het |
| Ppil3 |
A |
G |
1: 58,479,992 (GRCm39) |
|
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,379,154 (GRCm39) |
E276G |
unknown |
Het |
| Semp2l1 |
C |
A |
1: 32,584,560 (GRCm39) |
R450M |
probably damaging |
Het |
| Semp2l1 |
T |
A |
1: 32,584,561 (GRCm39) |
R450W |
probably damaging |
Het |
| Spata16 |
A |
G |
3: 26,721,713 (GRCm39) |
E78G |
probably damaging |
Het |
| Tlr3 |
A |
T |
8: 45,856,018 (GRCm39) |
I54K |
probably damaging |
Het |
| Tmem72 |
A |
G |
6: 116,678,974 (GRCm39) |
L34P |
probably damaging |
Het |
| Triobp |
A |
G |
15: 78,845,296 (GRCm39) |
R213G |
probably benign |
Het |
| Tyrp1 |
T |
A |
4: 80,764,844 (GRCm39) |
V7D |
probably damaging |
Het |
| Uhrf2 |
A |
G |
19: 30,052,621 (GRCm39) |
I372V |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,838,359 (GRCm39) |
D2395G |
probably damaging |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,378 (GRCm39) |
I273N |
probably damaging |
Het |
| Zfp451 |
C |
T |
1: 33,842,014 (GRCm39) |
|
probably benign |
Het |
| Zfp457 |
T |
C |
13: 67,441,420 (GRCm39) |
E385G |
probably benign |
Het |
| Zfp74 |
C |
T |
7: 29,631,880 (GRCm39) |
M121I |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,220,359 (GRCm39) |
|
probably null |
Het |
| Zfp874a |
A |
T |
13: 67,591,100 (GRCm39) |
C195S |
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 |
|
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'- TTAAGGCTGGAAATCGGAACTG -3'
(R):5'- GGGCATTAGTAAATGGAATCAGATC -3'
Sequencing Primer
(F):5'- CTGGAAATCGGAACTGATGAGATCTG -3'
(R):5'- TGGAATCAGATCAAGTTTTACTCTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation