Incidental Mutation 'R9365:Uty'
| ID |
708940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uty
|
| Ensembl Gene |
ENSMUSG00000068457 |
| Gene Name |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
| Synonyms |
Hydb |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9365 (G1)
|
| Quality Score |
221.999 |
|
Status
|
Validated
|
| Chromosome |
Y |
| Chromosomal Location |
1096861-1245759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 1099712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1161
(N1161S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069309]
[ENSMUST00000139365]
[ENSMUST00000143286]
[ENSMUST00000154004]
[ENSMUST00000154666]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069309
AA Change: N1161S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: N1161S
| 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 |
possibly damaging
Transcript: ENSMUST00000139365
AA Change: N1160S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: N1160S
| 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: N1060S
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: N1060S
| 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 |
possibly damaging
Transcript: ENSMUST00000154004
AA Change: N1098S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: N1098S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
G |
A |
10: 20,848,035 (GRCm39) |
R481Q |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,101,555 (GRCm39) |
I77T |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,889,207 (GRCm39) |
V362E |
possibly damaging |
Het |
| Bcat2 |
T |
A |
7: 45,225,294 (GRCm39) |
F57L |
probably damaging |
Het |
| Ccdc73 |
C |
T |
2: 104,738,011 (GRCm39) |
L36F |
probably damaging |
Het |
| Ccl19 |
C |
T |
4: 42,756,288 (GRCm39) |
V15I |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,954,207 (GRCm39) |
V1688E |
possibly damaging |
Het |
| Ces1a |
A |
T |
8: 93,774,727 (GRCm39) |
F4I |
probably benign |
Het |
| Chchd6 |
G |
A |
6: 89,551,413 (GRCm39) |
P83S |
probably benign |
Het |
| Cnr1 |
T |
C |
4: 33,943,798 (GRCm39) |
M62T |
probably benign |
Het |
| Colec12 |
T |
C |
18: 9,848,146 (GRCm39) |
L108P |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,894,979 (GRCm39) |
|
probably benign |
Het |
| Dhrs4 |
C |
T |
14: 55,724,776 (GRCm39) |
T181I |
probably benign |
Het |
| Disc1 |
T |
C |
8: 125,851,285 (GRCm39) |
S392P |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,566,859 (GRCm39) |
F69L |
|
Het |
| Ehmt1 |
T |
C |
2: 24,728,722 (GRCm39) |
D726G |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 77,997,957 (GRCm39) |
L462I |
probably damaging |
Het |
| Exoc2 |
A |
T |
13: 31,040,697 (GRCm39) |
S774T |
probably benign |
Het |
| Fam135b |
A |
G |
15: 71,334,813 (GRCm39) |
S794P |
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,606,973 (GRCm39) |
V646A |
probably benign |
Het |
| Gm3543 |
G |
T |
14: 41,804,093 (GRCm39) |
D57E |
possibly damaging |
Het |
| Golgb1 |
T |
A |
16: 36,736,124 (GRCm39) |
D1831E |
probably damaging |
Het |
| Hace1 |
T |
G |
10: 45,586,092 (GRCm39) |
|
probably null |
Het |
| Irgc |
T |
C |
7: 24,131,872 (GRCm39) |
E315G |
possibly damaging |
Het |
| Ism1 |
A |
G |
2: 139,582,321 (GRCm39) |
Y211C |
probably damaging |
Het |
| Kpna1 |
T |
G |
16: 35,833,287 (GRCm39) |
V121G |
probably damaging |
Het |
| Lifr |
T |
A |
15: 7,198,521 (GRCm39) |
F250L |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,740,407 (GRCm39) |
T368A |
probably benign |
Het |
| Lmln |
T |
A |
16: 32,925,169 (GRCm39) |
C467* |
probably null |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,943 (GRCm39) |
E408G |
probably benign |
Het |
| Melk |
C |
T |
4: 44,340,693 (GRCm39) |
A330V |
probably null |
Het |
| Mmp13 |
T |
G |
9: 7,277,921 (GRCm39) |
D271E |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,052,297 (GRCm39) |
T390A |
|
Het |
| Myh8 |
A |
G |
11: 67,174,632 (GRCm39) |
K249R |
probably benign |
Het |
| Nr1h4 |
T |
A |
10: 89,319,315 (GRCm39) |
M184L |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,885,337 (GRCm39) |
|
probably null |
Het |
| Otog |
T |
G |
7: 45,920,688 (GRCm39) |
C964G |
probably damaging |
Het |
| Oxct2b |
T |
C |
4: 123,010,589 (GRCm39) |
S170P |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,087,112 (GRCm39) |
S432P |
possibly damaging |
Het |
| Prb1a |
T |
A |
6: 132,184,201 (GRCm39) |
R477S |
unknown |
Het |
| Prh1 |
G |
A |
6: 132,549,108 (GRCm39) |
G205D |
unknown |
Het |
| Psg23 |
C |
T |
7: 18,344,393 (GRCm39) |
G354D |
probably damaging |
Het |
| Pura |
T |
G |
18: 36,420,913 (GRCm39) |
D233E |
possibly damaging |
Het |
| Rb1cc1 |
G |
T |
1: 6,315,117 (GRCm39) |
L423F |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,026,620 (GRCm39) |
S15P |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,148,465 (GRCm39) |
F7L |
probably benign |
Het |
| Sftpb |
A |
T |
6: 72,284,189 (GRCm39) |
R203* |
probably null |
Het |
| Slc30a9 |
A |
G |
5: 67,507,142 (GRCm39) |
K478R |
probably damaging |
Het |
| Slc35f5 |
T |
A |
1: 125,496,333 (GRCm39) |
M156K |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,612,327 (GRCm39) |
I232V |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,461,534 (GRCm39) |
D1527G |
probably benign |
Het |
| Srfbp1 |
T |
G |
18: 52,623,540 (GRCm39) |
V389G |
possibly damaging |
Het |
| Sun2 |
C |
T |
15: 79,622,720 (GRCm39) |
|
probably null |
Het |
| Tep1 |
G |
T |
14: 51,064,597 (GRCm39) |
A2386D |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,064,564 (GRCm39) |
S1331R |
possibly damaging |
Het |
| Tgm1 |
A |
T |
14: 55,942,349 (GRCm39) |
N667K |
probably damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tsen54 |
T |
C |
11: 115,713,410 (GRCm39) |
F438L |
probably damaging |
Het |
| Ube4a |
T |
C |
9: 44,862,191 (GRCm39) |
H150R |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,064 (GRCm39) |
D312E |
probably damaging |
Het |
| Wdr55 |
T |
G |
18: 36,893,354 (GRCm39) |
C5W |
probably damaging |
Het |
| Zbtb24 |
C |
A |
10: 41,332,540 (GRCm39) |
P405Q |
probably damaging |
Het |
| Zkscan2 |
T |
A |
7: 123,079,591 (GRCm39) |
I789F |
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 |
|
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 |
|
R9367:Uty
|
UTSW |
Y |
1,099,584 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTCCTTTATAACCCAGTTAAG -3'
(R):5'- TGTTCTTGTCATGTCAAAGCTC -3'
Sequencing Primer
(F):5'- ACTTGAATCAGGTCCTCC -3'
(R):5'- AGCATTTTTAGCCAAGATGAAGAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation