Incidental Mutation 'R7582:Uty'
| ID |
586838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uty
|
| Ensembl Gene |
ENSMUSG00000068457 |
| Gene Name |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
| Synonyms |
Hydb |
| MMRRC Submission |
045665-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7582 (G1)
|
| Quality Score |
221.999 |
|
Status
|
Not validated
|
| Chromosome |
Y |
| Chromosomal Location |
1096861-1245759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 1170914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 317
(C317R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070012
(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: C317R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: C317R
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119406
Gene: ENSMUSG00000068457
AA Change: C314R
| 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: C316R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: C316R
| 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: C261R
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: C261R
| 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: C254R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: C254R
| 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: 98.9%
|
| Validation Efficiency |
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
G |
10: 10,266,565 (GRCm39) |
V1007A |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,841,523 (GRCm39) |
V800A |
probably damaging |
Het |
| Ankfn1 |
T |
A |
11: 89,417,445 (GRCm39) |
M56L |
probably benign |
Het |
| Arfgap3 |
A |
C |
15: 83,187,302 (GRCm39) |
V72G |
possibly damaging |
Het |
| B3galnt2 |
C |
T |
13: 14,165,986 (GRCm39) |
R294W |
probably damaging |
Het |
| Cadm1 |
G |
T |
9: 47,708,740 (GRCm39) |
D157Y |
probably damaging |
Het |
| Castor1 |
T |
C |
11: 4,170,457 (GRCm39) |
V151A |
probably benign |
Het |
| Ccdc81 |
A |
T |
7: 89,525,353 (GRCm39) |
Y474N |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,841,264 (GRCm39) |
K297I |
probably benign |
Het |
| Cep128 |
G |
A |
12: 91,314,340 (GRCm39) |
T146M |
probably damaging |
Het |
| Cfap161 |
T |
C |
7: 83,426,290 (GRCm39) |
N236S |
possibly damaging |
Het |
| Chil3 |
A |
T |
3: 106,071,572 (GRCm39) |
W31R |
probably damaging |
Het |
| Cmtm2b |
C |
T |
8: 105,049,353 (GRCm39) |
S86F |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,374,362 (GRCm39) |
G958D |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,822,625 (GRCm39) |
L244P |
unknown |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,821,905 (GRCm39) |
Y1857H |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,208,964 (GRCm39) |
Q1154R |
probably damaging |
Het |
| Fgg |
G |
A |
3: 82,921,445 (GRCm39) |
G376D |
probably damaging |
Het |
| Fmn2 |
T |
C |
1: 174,526,356 (GRCm39) |
S1392P |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,147,615 (GRCm39) |
V418A |
probably benign |
Het |
| Foxf1 |
A |
T |
8: 121,811,430 (GRCm39) |
H98L |
possibly damaging |
Het |
| Frmd4a |
C |
CA |
2: 4,599,408 (GRCm39) |
|
probably null |
Het |
| Fry |
C |
A |
5: 150,419,847 (GRCm39) |
T639K |
|
Het |
| Fryl |
A |
G |
5: 73,179,843 (GRCm39) |
|
probably null |
Het |
| Gdpd4 |
A |
G |
7: 97,607,012 (GRCm39) |
|
probably null |
Het |
| Gpt2 |
A |
G |
8: 86,246,145 (GRCm39) |
K368R |
probably damaging |
Het |
| Hc |
A |
T |
2: 34,881,278 (GRCm39) |
V1447E |
possibly damaging |
Het |
| Kmt5a |
A |
G |
5: 124,597,982 (GRCm39) |
T280A |
probably benign |
Het |
| Lrrc4b |
G |
T |
7: 44,111,234 (GRCm39) |
V369L |
probably benign |
Het |
| Ly6g5c |
A |
G |
17: 35,330,783 (GRCm39) |
M102V |
probably benign |
Het |
| Malrd1 |
A |
G |
2: 15,700,081 (GRCm39) |
S643G |
unknown |
Het |
| Mib2 |
T |
C |
4: 155,739,267 (GRCm39) |
N904S |
probably benign |
Het |
| Mug2 |
G |
A |
6: 122,056,603 (GRCm39) |
V1183I |
probably damaging |
Het |
| Nckap1l |
C |
T |
15: 103,390,587 (GRCm39) |
T786I |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,224,504 (GRCm39) |
|
probably benign |
Het |
| Neu3 |
A |
G |
7: 99,463,174 (GRCm39) |
V183A |
probably benign |
Het |
| Nod1 |
A |
G |
6: 54,921,292 (GRCm39) |
L342P |
probably damaging |
Het |
| Nop58 |
T |
C |
1: 59,740,097 (GRCm39) |
V163A |
probably damaging |
Het |
| Npr3 |
C |
T |
15: 11,895,768 (GRCm39) |
G293R |
probably null |
Het |
| Obscn |
T |
A |
11: 58,952,253 (GRCm39) |
K3939* |
probably null |
Het |
| Or4d10c |
G |
A |
19: 12,065,370 (GRCm39) |
A262V |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,136,793 (GRCm39) |
M81K |
probably damaging |
Het |
| Or5k16 |
A |
T |
16: 58,736,410 (GRCm39) |
M198K |
possibly damaging |
Het |
| Or5p76 |
A |
G |
7: 108,123,058 (GRCm39) |
I33T |
probably benign |
Het |
| Or8b12b |
T |
C |
9: 37,684,117 (GRCm39) |
L54P |
probably damaging |
Het |
| P2ry6 |
A |
G |
7: 100,587,784 (GRCm39) |
Y192H |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
| Pign |
G |
A |
1: 105,577,092 (GRCm39) |
T197I |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,716,817 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
C |
A |
15: 85,703,122 (GRCm39) |
R938L |
possibly damaging |
Het |
| Psg21 |
A |
G |
7: 18,381,128 (GRCm39) |
*472R |
probably null |
Het |
| Rabgap1l |
A |
T |
1: 160,509,654 (GRCm39) |
S474R |
probably benign |
Het |
| Rrn3 |
C |
T |
16: 13,628,375 (GRCm39) |
Q519* |
probably null |
Het |
| Seh1l |
A |
T |
18: 67,908,188 (GRCm39) |
K37* |
probably null |
Het |
| Shprh |
A |
G |
10: 11,040,449 (GRCm39) |
S641G |
probably benign |
Het |
| Slc4a1 |
T |
G |
11: 102,243,403 (GRCm39) |
S743R |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,174,534 (GRCm39) |
R688* |
probably null |
Het |
| Tlr11 |
C |
T |
14: 50,599,186 (GRCm39) |
Q391* |
probably null |
Het |
| Tmbim4 |
A |
G |
10: 120,053,471 (GRCm39) |
H90R |
probably benign |
Het |
| Trav8d-1 |
T |
C |
14: 53,016,326 (GRCm39) |
S71P |
possibly damaging |
Het |
| Trbv5 |
G |
A |
6: 41,039,617 (GRCm39) |
R74Q |
probably benign |
Het |
| Tril |
A |
G |
6: 53,795,921 (GRCm39) |
S434P |
probably benign |
Het |
| Uhmk1 |
A |
G |
1: 170,027,570 (GRCm39) |
Y376H |
probably damaging |
Het |
| Vmp1 |
C |
T |
11: 86,476,225 (GRCm39) |
C377Y |
probably benign |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdr41 |
T |
C |
13: 95,142,275 (GRCm39) |
S150P |
probably damaging |
Het |
| Zfp617 |
T |
A |
8: 72,685,864 (GRCm39) |
Y65N |
probably benign |
Het |
| Zfp800 |
A |
C |
6: 28,244,089 (GRCm39) |
V292G |
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 |
|
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'- CTGTTGATACAGCACACTAGAAAGAA -3'
(R):5'- AGAGCTAGTCATCTACCCTCTTTAA -3'
Sequencing Primer
(F):5'- TGCACTAAACCCAGCTTTGATG -3'
(R):5'- AGGATAAATCATTTTGGCAAATCAGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation