Mutagenetix > Incidental Mutation

Incidental Mutation 'R5806:Uty'

448555

Institutional Source

Beutler Lab

Gene Symbol

Uty

Ensembl Gene

ENSMUSG00000068457

Gene Name

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

Synonyms

Hydb

MMRRC Submission

043392-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5806 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

1096861-1245759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 1170921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 313 (D313E)

Ref Sequence

ENSEMBL: ENSMUSP00000114752 (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: D314E

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: D314E

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

noncoding transcript
Transcript: ENSMUST00000133976

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137048
AA Change: D311E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119406
Gene: ENSMUSG00000068457
AA Change: D311E

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: D313E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: D313E

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

possibly damaging
Transcript: ENSMUST00000143286
AA Change: D258E

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: D258E

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: D251E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: D251E

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

noncoding transcript
Transcript: ENSMUST00000157073

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,388,731 (GRCm39)	M216T	probably benign	Het
Abhd4	A	G	14: 54,499,147 (GRCm39)	N36D	probably benign	Het
Ankra2	T	C	13: 98,405,005 (GRCm39)		probably null	Het
Btd	A	G	14: 31,389,469 (GRCm39)	T397A	probably benign	Het
Ccbe1	T	A	18: 66,209,426 (GRCm39)	K205*	probably null	Het
Clspn	A	G	4: 126,479,899 (GRCm39)	K1081E	probably damaging	Het
Cmya5	A	G	13: 93,230,445 (GRCm39)	S1548P	possibly damaging	Het
Coq8b	T	A	7: 26,950,050 (GRCm39)	Y376*	probably null	Het
Cpxm1	C	A	2: 130,239,393 (GRCm39)	A12S	probably damaging	Het
Cttn	T	C	7: 144,015,005 (GRCm39)	T68A	probably damaging	Het
Cyp2a12	T	A	7: 26,728,504 (GRCm39)		probably null	Het
Ddx46	A	G	13: 55,811,150 (GRCm39)	Q582R	possibly damaging	Het
Ddx55	A	G	5: 124,697,262 (GRCm39)	E208G	probably damaging	Het
Dnaaf4	T	C	9: 72,869,336 (GRCm39)	L182P	probably benign	Het
Dync1h1	A	T	12: 110,618,087 (GRCm39)	T3209S	probably damaging	Het
Ep400	A	T	5: 110,903,420 (GRCm39)	L393*	probably null	Het
Ern1	G	C	11: 106,289,531 (GRCm39)	S924C	probably damaging	Het
Fanci	T	C	7: 79,098,596 (GRCm39)	I1249T	probably damaging	Het
Fgfbp3	T	G	19: 36,895,949 (GRCm39)	D223A	probably damaging	Het
Frmd6	T	C	12: 70,936,794 (GRCm39)	L313P	probably damaging	Het
Galnt17	A	G	5: 130,906,657 (GRCm39)	Y504H	probably damaging	Het
Gjb5	A	G	4: 127,249,718 (GRCm39)	I142T	probably benign	Het
Gvin1	T	C	7: 105,757,413 (GRCm39)	D2352G	probably benign	Het
H2-M2	G	A	17: 37,792,617 (GRCm39)	T218I	probably damaging	Het
Hal	A	G	10: 93,326,846 (GRCm39)	T161A	probably damaging	Het
Helb	G	A	10: 119,928,424 (GRCm39)	R806C	probably damaging	Het
Ift80	T	A	3: 68,857,809 (GRCm39)	I279F	probably benign	Het
Itln1	A	T	1: 171,358,720 (GRCm39)	I149N	possibly damaging	Het
Kcnt2	A	C	1: 140,437,234 (GRCm39)	T556P	probably damaging	Het
Klk1b22	A	T	7: 43,765,301 (GRCm39)	E84D	possibly damaging	Het
Krt78	A	G	15: 101,858,937 (GRCm39)	L305P	probably damaging	Het
Lzts2	T	C	19: 45,014,806 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,265,680 (GRCm39)	L6843P	probably damaging	Het
Magi2	C	A	5: 20,856,202 (GRCm39)	H841Q	probably benign	Het
Mdm1	A	T	10: 118,002,563 (GRCm39)	H628L	probably benign	Het
Med23	A	G	10: 24,783,119 (GRCm39)	D734G	probably damaging	Het
Mfsd13a	T	C	19: 46,354,849 (GRCm39)	W9R	probably benign	Het
Mki67	T	C	7: 135,306,334 (GRCm39)	H576R	probably damaging	Het
Muc5b	A	G	7: 141,416,572 (GRCm39)	T3173A	possibly damaging	Het
Mx1	A	T	16: 97,255,351 (GRCm39)	V234E	possibly damaging	Het
Myh2	T	C	11: 67,072,141 (GRCm39)	L623P	probably damaging	Het
Naip1	C	T	13: 100,581,243 (GRCm39)	M1I	probably null	Het
Ncapd2	A	T	6: 125,158,117 (GRCm39)	V337E	probably damaging	Het
Nit2	G	A	16: 56,982,056 (GRCm39)	T64M	possibly damaging	Het
Or1e34	A	T	11: 73,778,373 (GRCm39)	M275K	probably damaging	Het
Or4c103	T	C	2: 88,513,495 (GRCm39)	N194D	probably damaging	Het
Or6e1	A	T	14: 54,520,264 (GRCm39)	F29L	probably benign	Het
Otub2	A	G	12: 103,369,656 (GRCm39)	E245G	probably benign	Het
Pde8b	T	C	13: 95,178,548 (GRCm39)	K524R	probably damaging	Het
Pih1d2	C	T	9: 50,529,750 (GRCm39)		probably benign	Het
Pik3cg	T	A	12: 32,254,952 (GRCm39)	D345V	possibly damaging	Het
Plekhg4	A	T	8: 106,105,542 (GRCm39)	Q669L	possibly damaging	Het
Prlr	A	T	15: 10,319,290 (GRCm39)	Y73F	probably damaging	Het
Ptk6	T	C	2: 180,841,523 (GRCm39)	I129V	possibly damaging	Het
Ranbp3	A	T	17: 57,017,717 (GRCm39)	T458S	probably benign	Het
Ren1	T	A	1: 133,283,249 (GRCm39)	Y128*	probably null	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rnf222	T	C	11: 68,783,789 (GRCm39)	S119P	possibly damaging	Het
Rrbp1	T	A	2: 143,805,251 (GRCm39)	E1007V	probably benign	Het
Septin11	G	A	5: 93,315,437 (GRCm39)	E389K	probably benign	Het
Setbp1	A	G	18: 78,899,697 (GRCm39)		probably null	Het
Slc25a54	T	C	3: 108,987,894 (GRCm39)	S12P	probably benign	Het
Slc26a5	A	C	5: 22,028,561 (GRCm39)	F336V	probably damaging	Het
Slc5a6	T	C	5: 31,198,114 (GRCm39)	T254A	probably damaging	Het
Smcr8	G	T	11: 60,671,208 (GRCm39)		probably null	Het
Srcap	A	T	7: 127,158,335 (GRCm39)		probably benign	Het
Srrt	A	T	5: 137,296,179 (GRCm39)	I509N	probably damaging	Het
Tcf25	T	A	8: 124,108,243 (GRCm39)	H99Q	probably benign	Het
Tmem40	A	G	6: 115,713,373 (GRCm39)	V76A	probably benign	Het
Tnni3k	A	T	3: 154,533,248 (GRCm39)	S740T	possibly damaging	Het
Top3a	A	G	11: 60,667,746 (GRCm39)		probably null	Het
Tpd52l2	C	A	2: 181,144,680 (GRCm39)	T109K	probably damaging	Het
Tsnaxip1	C	A	8: 106,564,128 (GRCm39)	D109E	possibly damaging	Het
Zfp143	A	T	7: 109,685,442 (GRCm39)	K423*	probably null	Het
Zfp407	C	T	18: 84,576,739 (GRCm39)	G1458D	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
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'- TGTTGATACAGCACACTAGAAAGAAA -3'
(R):5'- AGCTAGTCATCTACCCTCTTTAAGG -3'

Sequencing Primer
(F):5'- TGCACTAAACCCAGCTTTGATG -3'
(R):5'- GGATAAATCATTTTGGCAAATCAGC -3'

Posted On

2016-12-15