Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Uty'

233880

Institutional Source

Beutler Lab

Gene Symbol

Uty

Ensembl Gene

ENSMUSG00000068457

Gene Name

ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome

Synonyms

Hydb

MMRRC Submission

040149-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2146 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

1096861-1245759 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 1239816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 72 (I72V)

Ref Sequence

ENSEMBL: ENSMUSP00000122818 (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 benign
Transcript: ENSMUST00000069309
AA Change: I72V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: I72V

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

probably benign
Transcript: ENSMUST00000137048
AA Change: I69V

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000119406
Gene: ENSMUSG00000068457
AA Change: I69V

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 benign
Transcript: ENSMUST00000139365
AA Change: I71V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: I71V

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

probably benign
Transcript: ENSMUST00000143286

SMART Domains

Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457

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

unknown
Transcript: ENSMUST00000150715
AA Change: I43V

Predicted Effect

probably benign
Transcript: ENSMUST00000154004
AA Change: I9V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: I9V

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: ENSMUST00000154527

Predicted Effect

probably benign
Transcript: ENSMUST00000154666
AA Change: I72V

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122818
Gene: ENSMUSG00000068457
AA Change: I72V

Domain	Start	End	E-Value	Type
low complexity region	16	32	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157073

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (84/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,347,844		probably null	Het
4933406M09Rik	T	A	1: 134,390,513	M341K	probably damaging	Het
9530002B09Rik	T	A	4: 122,689,405	C13*	probably null	Het
Abca12	C	A	1: 71,263,488	V2191L	probably benign	Het
Adamts18	G	C	8: 113,845,003	A116G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgap6	A	G	X: 168,796,500	T94A	probably benign	Het
Arhgef5	T	C	6: 43,283,318	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,221,226	N143K	possibly damaging	Het
BC005561	T	C	5: 104,518,991	F460L	probably benign	Het
C1qtnf12	A	G	4: 155,966,465	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,999		probably benign	Het
Ccdc185	G	T	1: 182,747,520	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,885,225		probably benign	Het
Cd163	A	G	6: 124,309,208	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,527,943	C166*	probably null	Het
Ces5a	T	A	8: 93,534,699	E33D	probably benign	Het
Chl1	T	C	6: 103,715,401		probably null	Het
Chsy3	G	A	18: 59,176,472	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,822	R251L	probably damaging	Het
Cps1	A	C	1: 67,152,379		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cstf1	T	C	2: 172,375,763	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,316,358	T317I	probably damaging	Het
Dennd3	C	T	15: 73,523,496	T146M	probably damaging	Het
Dennd3	A	T	15: 73,555,060	H762L	probably benign	Het
Dnah2	T	C	11: 69,515,761	M552V	probably benign	Het
Dnajc22	T	C	15: 99,104,383	V303A	probably benign	Het
Dtx2	T	G	5: 136,030,610	L458R	probably benign	Het
Elmsan1	G	T	12: 84,173,035	P382T	probably damaging	Het
Fat3	A	T	9: 15,990,512	F3072L	probably benign	Het
Fgf5	T	C	5: 98,275,550	*265R	probably null	Het
Fndc11	A	G	2: 181,222,125	E241G	probably damaging	Het
Glb1	T	C	9: 114,450,648	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,783,516	Q486P	probably benign	Het
Gm5786	A	T	12: 59,081,298		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378		probably benign	Het
Ints9	G	A	14: 64,986,343	G89R	possibly damaging	Het
Iqcm	T	A	8: 75,888,613	W441R	probably damaging	Het
Itga10	T	C	3: 96,651,492	L382P	possibly damaging	Het
Itga10	G	T	3: 96,653,723	G635W	probably damaging	Het
Kbtbd2	A	G	6: 56,779,090	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,184,309	K1649R	probably damaging	Het
L1cam	A	T	X: 73,861,141	F536Y	probably damaging	Het
Magee1	A	T	X: 105,122,958	D783V	probably damaging	Het
Marveld3	A	T	8: 109,959,802	V144E	probably benign	Het
Mcam	T	C	9: 44,136,635	V59A	probably damaging	Het
Mdga2	C	T	12: 66,868,741	E47K	probably damaging	Het
Metrn	T	A	17: 25,796,627	E38V	probably damaging	Het
Mfrp	T	C	9: 44,103,718	L314P	probably benign	Het
Mospd2	A	G	X: 164,956,477		probably null	Het
Mycbp2	G	A	14: 103,155,922	H3068Y	probably damaging	Het
Myh6	C	T	14: 54,953,771	R871H	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1104	T	A	2: 87,021,665	N293I	probably damaging	Het
Olfr1465	T	C	19: 13,314,121	T55A	probably benign	Het
Olfr156	A	G	4: 43,821,178	F61S	probably damaging	Het
Parvb	A	G	15: 84,232,168	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,104,752	M490V	probably benign	Het
Pet2	T	C	X: 89,406,277	D82G	possibly damaging	Het
Pkd2	A	C	5: 104,455,590		probably benign	Het
Reps1	T	A	10: 18,093,313	D206E	probably benign	Het
Rimkla	T	A	4: 119,474,582	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,802,486	I150S	probably null	Het
Rxfp4	C	T	3: 88,652,893	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,605,927	D237E	probably benign	Het
Sgo2b	T	G	8: 63,928,023	T592P	probably benign	Het
Slc35d1	A	T	4: 103,205,152	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,249,450	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,735,180	V230A	probably benign	Het
Slc9a3	A	G	13: 74,121,603	E30G	probably benign	Het
Slc9c1	A	G	16: 45,593,464	Y985C	probably benign	Het
Supt6	A	G	11: 78,230,932	F298S	probably damaging	Het
Tada2a	T	C	11: 84,079,629	D432G	probably damaging	Het
Tmem131	C	A	1: 36,812,609	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,036	V105A	probably benign	Het
Ttc7	T	C	17: 87,346,707		probably benign	Het
Ttn	T	C	2: 76,897,188		probably benign	Het
Usp16	T	C	16: 87,473,187		probably null	Het
Usp36	A	G	11: 118,268,665	L486S	probably benign	Het
Vps51	A	G	19: 6,068,134	V777A	probably benign	Het
Zfp160	A	G	17: 21,026,982	K598R	probably benign	Het
Zfp39	T	C	11: 58,890,332	N535D	probably benign	Het
Zfp804a	A	G	2: 82,258,664	T946A	probably benign	Het

Other mutations in Uty

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0139:Uty	UTSW	Y	1197223	missense	probably damaging	1.00
R0277:Uty	UTSW	Y	1169979	missense	probably damaging	1.00
R0323:Uty	UTSW	Y	1169979	missense	probably damaging	1.00
R1102:Uty	UTSW	Y	1174741	missense	probably damaging	1.00
R1256:Uty	UTSW	Y	1134884	missense	probably damaging	0.96
R1499:Uty	UTSW	Y	1197228	missense	probably damaging	1.00
R1534:Uty	UTSW	Y	1245440	missense	probably benign	0.41
R1643:Uty	UTSW	Y	1152054	missense	probably damaging	1.00
R2070:Uty	UTSW	Y	1169193	missense	probably benign	0.28
R2101:Uty	UTSW	Y	1176541	missense	probably damaging	0.99
R2508:Uty	UTSW	Y	1158182	missense	probably damaging	1.00
R3036:Uty	UTSW	Y	1099671	nonsense	probably null
R3437:Uty	UTSW	Y	1158336	missense	probably benign	0.38
R3547:Uty	UTSW	Y	1158512	missense	possibly damaging	0.78
R4153:Uty	UTSW	Y	1158327	missense	possibly damaging	0.68
R4388:Uty	UTSW	Y	1151956	missense	possibly damaging	0.94
R4467:Uty	UTSW	Y	1158372	missense	possibly damaging	0.48
R4607:Uty	UTSW	Y	1131134	missense	probably damaging	1.00
R4608:Uty	UTSW	Y	1131134	missense	probably damaging	1.00
R4684:Uty	UTSW	Y	1176502	nonsense	probably null
R4948:Uty	UTSW	Y	1136883	missense	probably damaging	1.00
R5129:Uty	UTSW	Y	1158592	missense	probably benign	0.13
R5387:Uty	UTSW	Y	1189339	missense	probably damaging	1.00
R5408:Uty	UTSW	Y	1245614	missense	possibly damaging	0.46
R5487:Uty	UTSW	Y	1174825	missense	probably damaging	1.00
R5677:Uty	UTSW	Y	1134902	missense	probably damaging	1.00
R5806:Uty	UTSW	Y	1170921	missense	probably damaging	0.99
R6047:Uty	UTSW	Y	1158288	missense	probably damaging	1.00
R6092:Uty	UTSW	Y	1174836	missense	probably benign	0.08
R6759:Uty	UTSW	Y	1174735	missense	probably damaging	0.98
R6761:Uty	UTSW	Y	1186790	missense	probably damaging	1.00
R6949:Uty	UTSW	Y	1240000	splice site	probably null
R7177:Uty	UTSW	Y	1099691	missense	probably benign	0.33
R7251:Uty	UTSW	Y	1154262	missense	probably benign
R7469:Uty	UTSW	Y	1131072	missense	possibly damaging	0.71
R7582:Uty	UTSW	Y	1170914	missense	probably damaging	1.00
R7686:Uty	UTSW	Y	1158075	missense	possibly damaging	0.92
R7826:Uty	UTSW	Y	1137716	missense	possibly damaging	0.83
R7962:Uty	UTSW	Y	1154210	nonsense	probably null
R8225:Uty	UTSW	Y	1158634	missense	probably benign
R8354:Uty	UTSW	Y	1157928	missense	possibly damaging	0.92
R8966:Uty	UTSW	Y	1099748	missense	possibly damaging	0.72
R9365:Uty	UTSW	Y	1099712	missense	possibly damaging	0.53
R9367:Uty	UTSW	Y	1099584	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TCTGTATAGTAAATAGCATGTACCTCC -3'
(R):5'- GCACTCCTTTGTTACTTTATTGAGAG -3'

Sequencing Primer
(F):5'- GTAAATAGCATGTACCTCCAATAACC -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'

Posted On

2014-10-01