Incidental Mutation 'R6047:Uty'
ID 483364
Institutional Source Beutler Lab
Gene Symbol Uty
Ensembl Gene ENSMUSG00000068457
Gene Name ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
Synonyms Hydb
MMRRC Submission 044215-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6047 (G1)
Quality Score 221.999
Status Validated
Chromosome Y
Chromosomal Location 1096861-1245759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 1158288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 538 (P538Q)
Ref Sequence ENSEMBL: ENSMUSP00000119406 (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: P586Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: P586Q

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 noncoding transcript
Transcript: ENSMUST00000133976
Predicted Effect probably damaging
Transcript: ENSMUST00000137048
AA Change: P538Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119406
Gene: ENSMUSG00000068457
AA Change: P538Q

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: P585Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: P585Q

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: P485Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: P485Q

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: ENSMUST00000154004
AA Change: P523Q

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: P523Q

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (36/36)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,856,066 (GRCm39) I58T probably damaging Het
Adgrb2 G T 4: 129,912,498 (GRCm39) G1208C probably damaging Het
Antxrl T C 14: 33,775,433 (GRCm39) probably benign Het
Appl2 C T 10: 83,448,765 (GRCm39) probably null Het
Bloc1s2 T C 19: 44,130,629 (GRCm39) I112V possibly damaging Het
Cblb G T 16: 51,932,611 (GRCm39) probably null Het
Cdk9 T C 2: 32,598,285 (GRCm39) probably null Het
Dok7 G A 5: 35,236,651 (GRCm39) G206D probably damaging Het
Ftsj3 C T 11: 106,143,144 (GRCm39) R390H probably damaging Het
Gpr179 G T 11: 97,229,242 (GRCm39) P971Q probably damaging Het
Hic1 A T 11: 75,057,675 (GRCm39) S405T possibly damaging Het
Ifngr1 T C 10: 19,482,061 (GRCm39) L217P probably damaging Het
Insrr A G 3: 87,711,483 (GRCm39) K468E probably damaging Het
Lce1j G C 3: 92,696,503 (GRCm39) R92G unknown Het
Lrp12 T C 15: 39,735,463 (GRCm39) E823G probably damaging Het
Lrp1b A G 2: 40,527,787 (GRCm39) I98T probably benign Het
Mbd3l2 A T 9: 18,356,212 (GRCm39) H179L possibly damaging Het
Med24 A T 11: 98,598,591 (GRCm39) C691* probably null Het
Mical1 T C 10: 41,357,703 (GRCm39) probably null Het
Msantd2 A T 9: 37,434,738 (GRCm39) Y326F probably damaging Het
Nfyc T A 4: 120,636,314 (GRCm39) probably null Het
Nrg3 T A 14: 38,119,309 (GRCm39) probably null Het
Nt5c3 G A 6: 56,859,964 (GRCm39) S291L probably damaging Het
Pak4 A G 7: 28,262,461 (GRCm39) Y384H probably benign Het
Pdia5 T C 16: 35,217,848 (GRCm39) K512E probably damaging Het
Pfpl T C 19: 12,406,597 (GRCm39) F283L probably damaging Het
Pick1 A G 15: 79,139,895 (GRCm39) probably benign Het
Pkd1 T C 17: 24,814,059 (GRCm39) V4143A probably damaging Het
Ptprc C T 1: 138,028,779 (GRCm39) probably null Het
Scn10a A G 9: 119,451,897 (GRCm39) F1342S probably benign Het
Slc17a7 A T 7: 44,822,830 (GRCm39) I436F probably benign Het
Slc34a1 G T 13: 55,559,884 (GRCm39) A403S probably damaging Het
Stmn3 A T 2: 180,950,952 (GRCm39) Y35N possibly damaging Het
Tldc2 A G 2: 156,938,382 (GRCm39) E207G probably damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Zzef1 A G 11: 72,756,921 (GRCm39) D1142G probably 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
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
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'- TTCTGTGGAAATGGCTGAAGAG -3'
(R):5'- GGGGATGCTCAAAATCACTTCTTAC -3'

Sequencing Primer
(F):5'- GGGTGAAGAAGCAGAAAGATTATC -3'
(R):5'- TTACGTATTCCTACCTCAGAAGAAC -3'
Posted On 2017-07-14