Incidental Mutation 'R5387:Uty'
ID 425381
Institutional Source Beutler Lab
Gene Symbol Uty
Ensembl Gene ENSMUSG00000068457
Gene Name ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
Synonyms Hydb
MMRRC Submission 042959-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5387 (G1)
Quality Score 222
Status Validated
Chromosome Y
Chromosomal Location 1096861-1245759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 1189339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 138 (E138K)
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: E201K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: E201K

DomainStartEndE-ValueType
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: ENSMUST00000137048
AA Change: E198K

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119406
Gene: ENSMUSG00000068457
AA Change: E198K

DomainStartEndE-ValueType
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: E200K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: E200K

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000143286
AA Change: E145K

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: E145K

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 13 29 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157073
Predicted Effect probably damaging
Transcript: ENSMUST00000154004
AA Change: E138K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: E138K

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 16 32 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (80/81)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,408,092 (GRCm39) S140T probably benign Het
Ahnak T C 19: 8,981,055 (GRCm39) S780P probably damaging Het
Ankhd1 C A 18: 36,767,697 (GRCm39) H1205N probably damaging Het
Ano1 T C 7: 144,202,356 (GRCm39) K139R probably benign Het
Anp32b T G 4: 46,468,573 (GRCm39) C114W probably damaging Het
Ascl1 C T 10: 87,328,551 (GRCm39) A134T probably damaging Het
Atl2 C T 17: 80,160,229 (GRCm39) E453K probably benign Het
Aup1 C T 6: 83,032,005 (GRCm39) A84V probably damaging Het
Btbd7 A T 12: 102,804,044 (GRCm39) M332K probably damaging Het
Cacna1d A G 14: 29,822,708 (GRCm39) V1107A probably damaging Het
Cd33 G A 7: 43,181,477 (GRCm39) Q114* probably null Het
Cdhr18 C A 14: 13,914,438 (GRCm38) M1I probably null Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Defb22 C A 2: 152,327,826 (GRCm39) A120S unknown Het
Dnah7b A G 1: 46,227,819 (GRCm39) I1347M probably damaging Het
Efcab5 A G 11: 77,025,668 (GRCm39) I549T possibly damaging Het
Esp15 T A 17: 39,955,468 (GRCm39) probably null Het
Fbxo7 A G 10: 85,860,518 (GRCm39) T42A probably benign Het
Filip1 A G 9: 79,725,556 (GRCm39) I1021T probably benign Het
Gad1 C A 2: 70,394,195 (GRCm39) S7* probably null Het
H2ac7 T A 13: 23,758,841 (GRCm39) probably null Het
H2-Q7 C T 17: 35,658,518 (GRCm39) T52M probably damaging Het
H2-T3 C T 17: 36,497,594 (GRCm39) G28R probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ift81 A G 5: 122,693,598 (GRCm39) Y604H probably damaging Het
Igsf11 A G 16: 38,842,785 (GRCm39) Y154C probably damaging Het
Kif26b G T 1: 178,742,441 (GRCm39) A846S probably benign Het
Lnx2 G A 5: 146,964,964 (GRCm39) P420S probably benign Het
Lrit2 A G 14: 36,794,216 (GRCm39) T427A probably damaging Het
Lrrc43 G T 5: 123,637,734 (GRCm39) probably null Het
Mettl25b A T 3: 87,837,318 (GRCm39) probably benign Het
Mug1 T C 6: 121,861,353 (GRCm39) Y1325H probably damaging Het
Naglu A T 11: 100,967,550 (GRCm39) Y500F probably damaging Het
Npy4r A G 14: 33,868,940 (GRCm39) M116T probably benign Het
Nrdc A G 4: 108,896,959 (GRCm39) Y526C probably damaging Het
Nrp2 T C 1: 62,801,972 (GRCm39) S472P probably benign Het
Or12d2 T A 17: 37,625,183 (GRCm39) T31S probably benign Het
Or12k8 T C 2: 36,975,731 (GRCm39) T10A possibly damaging Het
Otogl T A 10: 107,616,794 (GRCm39) T1828S probably benign Het
Pank2 C T 2: 131,116,182 (GRCm39) T200I probably benign Het
Pbrm1 A G 14: 30,804,567 (GRCm39) Y946C probably damaging Het
Pde12 A T 14: 26,387,608 (GRCm39) S437T probably benign Het
Pikfyve A G 1: 65,304,427 (GRCm39) K1710E possibly damaging Het
Plcd3 A G 11: 102,969,281 (GRCm39) S229P probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prkaa2 C A 4: 104,897,374 (GRCm39) D280Y probably damaging Het
Ptprg T A 14: 12,153,873 (GRCm38) S531R probably damaging Het
R3hdm2 T C 10: 127,321,303 (GRCm39) S620P probably damaging Het
Rab33b A G 3: 51,400,876 (GRCm39) T117A probably damaging Het
Rasal2 T C 1: 156,985,335 (GRCm39) D804G possibly damaging Het
Rbp3 A G 14: 33,678,370 (GRCm39) T773A possibly damaging Het
Rspry1 A G 8: 95,364,914 (GRCm39) T185A possibly damaging Het
Sec61a2 G T 2: 5,887,356 (GRCm39) probably benign Het
Setx C T 2: 29,037,606 (GRCm39) R1364C probably benign Het
Shtn1 G T 19: 59,026,801 (GRCm39) L97M probably damaging Het
Slc35f1 T C 10: 52,984,260 (GRCm39) L340P probably damaging Het
Slc45a1 T A 4: 150,728,366 (GRCm39) probably benign Het
Slmap T C 14: 26,181,088 (GRCm39) E386G probably benign Het
Smc2 C T 4: 52,475,096 (GRCm39) A924V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Tecta G A 9: 42,286,359 (GRCm39) L766F probably damaging Het
Tle3 C T 9: 61,314,771 (GRCm39) probably null Het
Top3a A G 11: 60,653,316 (GRCm39) F53L probably damaging Het
Trappc2b A T 11: 51,576,801 (GRCm39) D32E probably benign Het
Trem1 T C 17: 48,548,541 (GRCm39) I26T possibly damaging Het
Ttc7b G T 12: 100,413,222 (GRCm39) Q199K possibly damaging Het
Ubap2l T C 3: 89,913,903 (GRCm39) Y975C probably benign Het
Ubxn11 C A 4: 133,850,737 (GRCm39) D196E probably damaging Het
Unc80 A G 1: 66,569,180 (GRCm39) H945R possibly damaging Het
Usp15 A G 10: 122,967,191 (GRCm39) I405T probably damaging Het
Wapl A G 14: 34,399,252 (GRCm39) E107G probably benign Het
Wbp1l T C 19: 46,632,896 (GRCm39) probably null Het
Zfp184 T G 13: 22,133,810 (GRCm39) probably benign Het
Zfp36 A C 7: 28,077,293 (GRCm39) L205R possibly damaging Het
Other mutations in Uty
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTCCTGAAATGTGCAAGTCATG -3'
(R):5'- ATGCAGGTTTACAGTCCATGAC -3'

Sequencing Primer
(F):5'- TTCAACACTTTTGAGGCAGAGGC -3'
(R):5'- GGCTCCCATAGTATTTCATTT -3'
Posted On 2016-08-04