Incidental Mutation 'R7469:Uty'
ID 579076
Institutional Source Beutler Lab
Gene Symbol Uty
Ensembl Gene ENSMUSG00000068457
Gene Name ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
Synonyms Hydb
MMRRC Submission 045543-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7469 (G1)
Quality Score 221.999
Status Validated
Chromosome Y
Chromosomal Location 1096861-1245759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 1131072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1046 (C1046S)
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: C1046S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: C1046S

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: ENSMUST00000139365
AA Change: C1045S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: C1045S

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 probably damaging
Transcript: ENSMUST00000143286
AA Change: C945S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: C945S

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 possibly damaging
Transcript: ENSMUST00000154004
AA Change: C983S

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: C983S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (77/79)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,259,014 (GRCm39) L443P probably damaging Het
Abtb2 T C 2: 103,397,292 (GRCm39) V74A probably benign Het
Adam5 A T 8: 25,305,541 (GRCm39) F66I probably benign Het
Aff1 T A 5: 103,981,413 (GRCm39) D517E probably benign Het
Agbl3 A G 6: 34,791,349 (GRCm39) K559R probably damaging Het
Aldh1l2 A C 10: 83,343,969 (GRCm39) V482G probably damaging Het
Ankra2 C T 13: 98,402,882 (GRCm39) A43V probably benign Het
Ankrd50 C A 3: 38,508,342 (GRCm39) V419F probably damaging Het
Arhgef16 G A 4: 154,375,763 (GRCm39) T77M probably damaging Het
Best3 T C 10: 116,840,290 (GRCm39) V240A probably damaging Het
Btbd7 T C 12: 102,779,027 (GRCm39) Y413C probably damaging Het
Bzw2 A T 12: 36,157,550 (GRCm39) V305E probably damaging Het
Cacng8 G A 7: 3,463,621 (GRCm39) A258T possibly damaging Het
Cfap157 T C 2: 32,670,696 (GRCm39) Y184C probably damaging Het
Chmp3 T A 6: 71,556,652 (GRCm39) V184E possibly damaging Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Ctdspl2 A T 2: 121,837,362 (GRCm39) E376D possibly damaging Het
Cyfip1 A G 7: 55,527,468 (GRCm39) D200G possibly damaging Het
Cylc2 T A 4: 51,227,970 (GRCm39) probably null Het
Cyp2c66 T A 19: 39,172,307 (GRCm39) F407L probably damaging Het
Dcp2 T C 18: 44,529,019 (GRCm39) F45L probably damaging Het
Dhx34 C T 7: 15,950,364 (GRCm39) R268H probably benign Het
Dnajc7 A T 11: 100,482,377 (GRCm39) M205K probably benign Het
Dzip3 C T 16: 48,765,242 (GRCm39) V491M probably benign Het
Farp1 T C 14: 121,512,833 (GRCm39) L777P probably damaging Het
Fchsd2 T G 7: 100,927,863 (GRCm39) probably null Het
Fer1l6 A T 15: 58,462,419 (GRCm39) probably null Het
Fhip1a T C 3: 85,580,069 (GRCm39) D712G probably benign Het
Fitm2 A G 2: 163,311,742 (GRCm39) F157S probably damaging Het
Flt1 G T 5: 147,540,379 (GRCm39) A770E probably damaging Het
Flt3 T A 5: 147,268,084 (GRCm39) E967V probably benign Het
Foxc1 G C 13: 31,992,361 (GRCm39) A391P unknown Het
Foxc1 C T 13: 31,992,362 (GRCm39) A391V unknown Het
Gimap6 T A 6: 48,679,392 (GRCm39) T215S probably benign Het
Gm2431 A T 7: 141,811,518 (GRCm39) C129S unknown Het
Itpr3 T C 17: 27,340,028 (GRCm39) S2636P possibly damaging Het
Lsg1 A G 16: 30,380,635 (GRCm39) Y601H probably benign Het
Map4 G T 9: 109,856,865 (GRCm39) probably null Het
Mga T C 2: 119,733,527 (GRCm39) M125T probably damaging Het
Mxi1 A G 19: 53,360,091 (GRCm39) D271G probably damaging Het
Ndst3 T A 3: 123,465,310 (GRCm39) T221S possibly damaging Het
Neto1 T A 18: 86,516,813 (GRCm39) S377T probably benign Het
Nkx6-2 T C 7: 139,161,555 (GRCm39) E210G probably damaging Het
Nos2 G T 11: 78,843,797 (GRCm39) V915F possibly damaging Het
Nrros G A 16: 31,963,030 (GRCm39) A329V probably benign Het
Numb T C 12: 83,850,578 (GRCm39) K211E probably benign Het
Nup210 T A 6: 90,995,874 (GRCm39) I1671F probably benign Het
Or12j3 G A 7: 139,953,050 (GRCm39) L158F possibly damaging Het
Or4c106 T A 2: 88,682,847 (GRCm39) D184E probably benign Het
Or4c31 T A 2: 88,291,691 (GRCm39) H2Q probably benign Het
Pcdh15 A T 10: 74,481,812 (GRCm39) M386L probably benign Het
Pcdhb3 C A 18: 37,434,388 (GRCm39) T118K probably benign Het
Pcdhb8 A T 18: 37,489,011 (GRCm39) I230F probably damaging Het
Peli2 G A 14: 48,488,015 (GRCm39) V120I probably benign Het
Pramel15 T A 4: 144,099,673 (GRCm39) Q364L probably damaging Het
Pramel7 T A 2: 87,321,748 (GRCm39) M96L probably benign Het
Prex2 T A 1: 11,355,293 (GRCm39) S1531R probably damaging Het
Prpf31 A G 7: 3,636,392 (GRCm39) T138A possibly damaging Het
Psme4 C T 11: 30,752,837 (GRCm39) T175I probably benign Het
Rasgrf2 A G 13: 92,165,530 (GRCm39) probably null Het
Rps19 T A 7: 24,589,190 (GRCm39) *146K probably null Het
Rsu1 T C 2: 13,082,371 (GRCm39) N260S probably benign Het
Serpina3k T C 12: 104,311,594 (GRCm39) C391R not run Het
Sipa1l1 T G 12: 82,467,438 (GRCm39) probably null Het
Snd1 T A 6: 28,626,126 (GRCm39) Y394N probably damaging Het
Spaca4 A T 7: 45,374,831 (GRCm39) V57E probably damaging Het
Spata31d1b A G 13: 59,863,278 (GRCm39) Y142C probably benign Het
Sptbn2 A G 19: 4,795,146 (GRCm39) K1535E probably benign Het
Srcin1 A G 11: 97,425,435 (GRCm39) S541P probably damaging Het
Tc2n A T 12: 101,631,934 (GRCm39) F308I probably damaging Het
Tdrd5 T C 1: 156,090,475 (GRCm39) D857G probably benign Het
Timm22 A G 11: 76,298,134 (GRCm39) D35G probably benign Het
Tram1l1 C A 3: 124,114,889 (GRCm39) H16Q probably benign Het
Uggt1 T C 1: 36,190,814 (GRCm39) Y1382C probably damaging Het
Usp32 G T 11: 84,879,379 (GRCm39) D1443E possibly damaging Het
Wdr31 T A 4: 62,375,768 (GRCm39) Q230L probably damaging Het
Wnt8b C A 19: 44,500,001 (GRCm39) T196K possibly damaging Het
Xpo4 A T 14: 57,835,436 (GRCm39) H628Q probably benign Het
Zfp780b C T 7: 27,663,382 (GRCm39) S391N probably benign 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
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
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'- TTAATGAATCCAAAGCACAGAACTC -3'
(R):5'- CACCTTCTTAAATTTGTGACTTGGAT -3'

Sequencing Primer
(F):5'- CACAGAACTCAAATGGGCATATG -3'
(R):5'- TTCCAGTGATGGCCAACTAG -3'
Posted On 2019-10-07