Incidental Mutation 'R4467:Uty'
| ID |
329260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uty
|
| Ensembl Gene |
ENSMUSG00000068457 |
| Gene Name |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
| Synonyms |
Hydb |
| MMRRC Submission |
041724-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4467 (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 1158372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 557
(V557A)
|
| 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: V558A
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: V558A
| 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: V510A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119406
Gene: ENSMUSG00000068457
AA Change: V510A
| 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: V557A
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: V557A
| 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: V457A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: V457A
| 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: V495A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: V495A
| 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: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,171 (GRCm39) |
Y57H |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bms1 |
G |
A |
6: 118,360,808 (GRCm39) |
T1220I |
probably damaging |
Het |
| Brat1 |
T |
C |
5: 140,690,826 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,136,366 (GRCm39) |
Y39* |
probably null |
Het |
| Chrnd |
T |
A |
1: 87,125,099 (GRCm39) |
L384Q |
probably damaging |
Het |
| Cpa3 |
A |
T |
3: 20,282,981 (GRCm39) |
Y155* |
probably null |
Het |
| Crlf1 |
G |
A |
8: 70,953,606 (GRCm39) |
W260* |
probably null |
Het |
| Cux1 |
C |
G |
5: 136,341,576 (GRCm39) |
E605D |
probably damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Dmtf1 |
T |
C |
5: 9,186,085 (GRCm39) |
N167S |
probably damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,609,567 (GRCm39) |
I372T |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,128,944 (GRCm39) |
|
probably null |
Het |
| Dtx2 |
T |
A |
5: 136,040,930 (GRCm39) |
W112R |
probably damaging |
Het |
| Elf3 |
A |
G |
1: 135,184,582 (GRCm39) |
I138T |
probably damaging |
Het |
| F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
| Fdps |
A |
T |
3: 89,008,093 (GRCm39) |
D8E |
possibly damaging |
Het |
| Fzd10 |
C |
A |
5: 128,678,340 (GRCm39) |
T20K |
probably benign |
Het |
| Gm9978 |
T |
A |
10: 78,322,750 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Has1 |
C |
T |
17: 18,064,257 (GRCm39) |
V461M |
probably benign |
Het |
| Hdac3 |
C |
T |
18: 38,085,566 (GRCm39) |
G80D |
probably benign |
Het |
| Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
| Lamp5 |
A |
G |
2: 135,900,940 (GRCm39) |
I47V |
probably damaging |
Het |
| Or6c1b |
T |
C |
10: 129,272,933 (GRCm39) |
I84T |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,885,027 (GRCm39) |
D122G |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,213,135 (GRCm39) |
E1875G |
probably benign |
Het |
| Pih1d1 |
A |
G |
7: 44,807,921 (GRCm39) |
M132V |
possibly damaging |
Het |
| Pon2 |
C |
T |
6: 5,267,021 (GRCm39) |
A241T |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,927,339 (GRCm39) |
I538V |
possibly damaging |
Het |
| Rab36 |
C |
T |
10: 74,887,875 (GRCm39) |
R249* |
probably null |
Het |
| Rps6kl1 |
C |
T |
12: 85,194,582 (GRCm39) |
A110T |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,435,356 (GRCm39) |
T244A |
probably benign |
Het |
| Slc22a7 |
T |
C |
17: 46,743,436 (GRCm39) |
I532V |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,247,731 (GRCm39) |
V377A |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
| Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
| Stat6 |
T |
G |
10: 127,487,097 (GRCm39) |
I201M |
probably damaging |
Het |
| Stim2 |
T |
C |
5: 54,273,536 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,937,107 (GRCm39) |
Y63C |
probably damaging |
Het |
| Tctn2 |
T |
C |
5: 124,758,252 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ubr5 |
T |
A |
15: 38,004,580 (GRCm39) |
T1282S |
probably damaging |
Het |
| Ufl1 |
A |
T |
4: 25,254,806 (GRCm39) |
I550N |
probably damaging |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,253 (GRCm39) |
S56P |
probably damaging |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
|
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 |
|
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'- ACAAGTTCCAATGTCATGGTCC -3'
(R):5'- AACTGGGTCCACACGATATCTCC -3'
Sequencing Primer
(F):5'- AATGTCATGGTCCACATTGTCG -3'
(R):5'- TCAGAATGGAAATCATACTCTGCCTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation