Incidental Mutation 'R5408:Uty'
ID 426428
Institutional Source Beutler Lab
Gene Symbol Uty
Ensembl Gene ENSMUSG00000068457
Gene Name ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
Synonyms Hydb
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5408 (G1)
Quality Score 222
Status Validated
Chromosome Y
Chromosomal Location 1096861-1245759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 1245614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 6 (V6A)
Ref Sequence ENSEMBL: ENSMUSP00000119406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069309] [ENSMUST00000137048] [ENSMUST00000139365] [ENSMUST00000143286] [ENSMUST00000143958] [ENSMUST00000154666] [ENSMUST00000154004]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069309
SMART Domains Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457

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: V6A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119406
Gene: ENSMUSG00000068457
AA Change: V6A

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 benign
Transcript: ENSMUST00000139365
SMART Domains Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457

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 benign
Transcript: ENSMUST00000143286
AA Change: V6A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: V6A

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 unknown
Transcript: ENSMUST00000143958
AA Change: V6A
SMART Domains Protein: ENSMUSP00000120069
Gene: ENSMUSG00000068457
AA Change: V6A

DomainStartEndE-ValueType
low complexity region 13 29 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154527
Predicted Effect probably benign
Transcript: ENSMUST00000154666
SMART Domains Protein: ENSMUSP00000122818
Gene: ENSMUSG00000068457

DomainStartEndE-ValueType
low complexity region 16 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154004
SMART Domains Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E 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
R5387:Uty UTSW Y 1,189,339 (GRCm39) missense probably damaging 1.00
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'- TCGACTGTGAGACTGAAGGAC -3'
(R):5'- GCTAGCGAAGTAGCAAGTTTAGC -3'

Sequencing Primer
(F):5'- TGAGACTGAAGGACCCCTCTTC -3'
(R):5'- AGTAGCAAGTTTAGCTGCACTG -3'
Posted On 2016-09-01