Mutagenetix > Incidental Mutation

Incidental Mutation 'R6949:Uty'

557073

Institutional Source

Beutler Lab

Gene Symbol

Uty

Ensembl Gene

ENSMUSG00000068457

Gene Name

ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome

Synonyms

Hydb

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6949 (G1)

Quality Score

222.016

Status

Validated

Chromosome

Chromosomal Location

1096861-1245759 bp(-) (GRCm38)

Type of Mutation

splice site (5156 bp from exon)

DNA Base Change (assembly)

C to T at 1240000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115113 (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

SMART Domains

Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457

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

SMART Domains

Protein: ENSMUSP00000119406
Gene: ENSMUSG00000068457

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

SMART Domains

Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457

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 null
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

probably benign
Transcript: ENSMUST00000150715

Predicted Effect

probably benign
Transcript: ENSMUST00000154004

SMART Domains

Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457

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

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: 100.0%
3x: 99.8%
10x: 98.8%
20x: 95.1%

Validation Efficiency

100% (45/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	G	T	3: 127,010,884	D679E	probably benign	Het
Catsper4	A	T	4: 134,225,747	Y96N	probably benign	Het
Cnksr3	T	C	10: 7,160,757	I35V	probably benign	Het
Col16a1	A	G	4: 130,059,323	E424G	probably damaging	Het
Ctsc	G	T	7: 88,281,458	G82W	probably damaging	Het
Cxcr4	T	C	1: 128,589,615	D101G	probably benign	Het
Dapk1	T	A	13: 60,736,324	N635K	probably benign	Het
Dopey1	T	C	9: 86,500,860	M282T	probably damaging	Het
Dpysl4	G	A	7: 139,091,999	E172K	probably damaging	Het
Eif2ak3	T	C	6: 70,878,845	I211T	probably damaging	Het
Fam71f1	T	A	6: 29,323,906	I210N	probably damaging	Het
Fbxw22	A	T	9: 109,382,076	W386R	probably benign	Het
Gm11639	A	C	11: 104,909,070	T2931P	probably damaging	Het
Grm7	A	G	6: 110,646,304	K146R	probably benign	Het
Grm7	C	A	6: 111,495,729	P843Q	probably damaging	Het
Gtf2e2	A	G	8: 33,758,698	D171G	probably damaging	Het
Hyal5	T	C	6: 24,876,304	S59P	probably benign	Het
Il7r	T	A	15: 9,508,004	T411S	probably damaging	Het
Kcp	T	A	6: 29,484,612		probably null	Het
Krcc1	T	C	6: 71,284,151	Y56H	probably benign	Het
Lmo2	T	A	2: 103,970,673	M1K	probably null	Het
Lrit3	G	A	3: 129,789,285	T351I	probably damaging	Het
Mcu	T	G	10: 59,456,744	T38P	possibly damaging	Het
Mylk	T	A	16: 35,000,318	I89N	probably damaging	Het
Ncoa2	A	T	1: 13,156,501	C996S	possibly damaging	Het
Npr2	A	G	4: 43,640,597	E350G	probably damaging	Het
Olfr1437	T	C	19: 12,322,428	Y133C	probably damaging	Het
Pald1	T	C	10: 61,321,217	E818G	probably benign	Het
Phf19	G	T	2: 34,904,131	Q210K	probably damaging	Het
Pomgnt1	G	A	4: 116,154,154	V250M	probably damaging	Het
Ppm1l	T	A	3: 69,549,403	C218S	possibly damaging	Het
Prkdc	G	A	16: 15,799,989	R3228H	probably benign	Het
Pros1	A	T	16: 62,924,575	T518S	probably benign	Het
Rdh8	T	A	9: 20,822,707	V63D	probably benign	Het
Rexo1	A	G	10: 80,550,636	V196A	possibly damaging	Het
Scgb2b20	A	T	7: 33,366,299	M1K	probably null	Het
Scn11a	A	G	9: 119,765,514	V1271A	probably benign	Het
Serac1	C	A	17: 6,051,815	D395Y	probably damaging	Het
Syne2	A	G	12: 75,965,997	D2655G	probably benign	Het
Tm4sf19	T	C	16: 32,405,858	V8A	probably benign	Het
Usp3	A	T	9: 66,520,690	D334E	probably benign	Het
Vmn2r7	T	C	3: 64,691,121	N672D	probably damaging	Het
Vmn2r96	T	A	17: 18,597,838	L751H	probably damaging	Het
Wnk2	T	C	13: 49,101,140	S300G	probably damaging	Het
Zp3r	G	T	1: 130,577,895	S508R	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
R2146:Uty	UTSW	Y	1239816	missense	probably benign	0.25
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
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'- TCCAGTAAGAGATTGAAGTGACC -3'
(R):5'- TGGGTCTCTAAATGCTACTGTTAGAG -3'

Sequencing Primer
(F):5'- AAAGACTCATAGAAGTGAATTGCC -3'
(R):5'- GCACTCCTTTGTTACTTTATTGAGAG -3'

Posted On

2019-06-10