Mutagenetix > Incidental Mutations

Incidental Mutation 'R0277:Uty'

65335

Institutional Source

Beutler Lab

Gene Symbol

Uty

Ensembl Gene

ENSMUSG00000068457

Gene Name

ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome

Synonyms

Hydb

MMRRC Submission

038499-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0277 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

1096861-1245759 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 1169979 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 326 (I326F)

Ref Sequence

ENSEMBL: ENSMUSP00000114910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069309] [ENSMUST00000137048] [ENSMUST00000139365] [ENSMUST00000143286] [ENSMUST00000143958] [ENSMUST00000154004] [ENSMUST00000154666]

Predicted Effect

probably damaging
Transcript: ENSMUST00000069309
AA Change: I389F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: I389F

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

probably benign
Transcript: ENSMUST00000137048
AA Change: I386F

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119406
Gene: ENSMUSG00000068457
AA Change: I386F

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: I388F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: I388F

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 damaging
Transcript: ENSMUST00000143286
AA Change: I333F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: I333F

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: I326F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: I326F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157073

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.3%

Validation Efficiency

99% (111/112)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	A	G	7: 125,318,643	K69R	unknown	Het
4932438A13Rik	T	A	3: 36,943,182	C1129*	probably null	Het
Abca13	A	C	11: 9,294,701	D2188A	probably benign	Het
Acad11	T	C	9: 104,124,025	M708T	probably damaging	Het
Adam7	T	C	14: 68,510,857		probably null	Het
Adgre1	T	A	17: 57,444,060	I578N	probably benign	Het
Agbl4	T	C	4: 111,617,222	S403P	probably damaging	Het
Ak3	A	G	19: 29,047,792	M13T	possibly damaging	Het
Ap2s1	T	C	7: 16,747,380		probably benign	Het
Arhgef1	A	T	7: 24,923,799		probably benign	Het
Arsk	T	C	13: 76,074,932	N182S	probably benign	Het
Aspscr1	G	A	11: 120,678,420	V15I	probably damaging	Het
Asxl2	A	G	12: 3,442,487	Y24C	probably damaging	Het
Atp8b1	A	G	18: 64,568,252	F345S	possibly damaging	Het
Atp8b3	T	C	10: 80,526,909	K672E	probably benign	Het
Bmp2k	A	G	5: 97,087,823		probably benign	Het
Casp6	T	A	3: 129,910,523	V86E	probably benign	Het
Cdca5	A	G	19: 6,090,712	E260G	unknown	Het
Cpb2	T	A	14: 75,265,458	V159D	probably damaging	Het
Cylc2	T	A	4: 51,228,477	S183T	unknown	Het
Dhtkd1	T	A	2: 5,914,888	M561L	probably benign	Het
Dync2h1	T	C	9: 7,129,046	D1823G	probably benign	Het
Efcab5	G	A	11: 77,140,923	R42W	probably damaging	Het
Erc1	T	C	6: 119,620,328	K1003E	probably damaging	Het
Ezr	G	A	17: 6,754,765	Q105*	probably null	Het
Fam83d	T	A	2: 158,785,547	D385E	probably benign	Het
Fbn2	A	G	18: 58,045,317	C1950R	probably damaging	Het
Fbxo32	A	T	15: 58,184,209	I236N	probably damaging	Het
Fcgbp	G	T	7: 28,085,493		probably null	Het
Foxe3	T	C	4: 114,925,608	N136D	probably damaging	Het
Fscn2	A	T	11: 120,368,011	I461F	probably damaging	Het
Gldc	A	G	19: 30,116,451	I722T	possibly damaging	Het
Gm10717	T	G	9: 3,025,619	V68G	possibly damaging	Het
Gm4841	A	G	18: 60,270,646	L125S	possibly damaging	Het
Gnl3	A	C	14: 31,013,427		probably null	Het
Gsto1	A	T	19: 47,857,977	I88F	probably damaging	Het
Gucy1b1	T	A	3: 82,038,156		probably null	Het
Hhla1	C	A	15: 65,948,503	V133F	probably benign	Het
Hipk3	T	A	2: 104,441,248	L446F	probably damaging	Het
Hscb	T	C	5: 110,834,690	E177G	possibly damaging	Het
Hsd17b6	T	C	10: 127,991,405	D266G	probably benign	Het
Ipo4	T	C	14: 55,632,115	S363G	probably benign	Het
Kcnip3	A	G	2: 127,459,979		probably benign	Het
Klhl41	A	G	2: 69,671,296	Y367C	probably damaging	Het
Klk1b4	C	G	7: 44,211,629	P232R	possibly damaging	Het
Lcp2	A	G	11: 34,054,322	D53G	probably damaging	Het
Llgl2	A	G	11: 115,850,720	K559E	probably damaging	Het
Lrrc59	A	C	11: 94,643,422	T269P	probably damaging	Het
Mark1	A	G	1: 184,944,952	S34P	possibly damaging	Het
Megf11	G	A	9: 64,691,350		probably null	Het
Mplkip	A	G	13: 17,696,980	I159V	possibly damaging	Het
Muc4	C	A	16: 32,755,690		probably benign	Het
Myo18b	A	G	5: 112,693,347		probably benign	Het
Myo9b	T	C	8: 71,355,952		probably benign	Het
Napg	C	T	18: 62,986,963	R149C	probably damaging	Het
Ndrg3	A	G	2: 156,934,935		probably benign	Het
Nfe2l3	T	A	6: 51,457,468	M336K	probably benign	Het
Nrxn1	A	C	17: 90,700,742		probably null	Het
Nsun3	A	T	16: 62,776,644		probably benign	Het
Nuak1	T	C	10: 84,374,451	E591G	probably benign	Het
Olfr1347	T	A	7: 6,488,434	M147L	probably benign	Het
Olfr1511	T	C	14: 52,390,389	Y128C	probably damaging	Het
Olfr215	A	T	6: 116,582,601	V115E	probably damaging	Het
Olfr23	A	T	11: 73,940,947	I234F	probably benign	Het
Olfr730	T	C	14: 50,186,332	N296S	probably null	Het
Olfr814	T	A	10: 129,874,067	Q230L	probably damaging	Het
Olfr982	G	A	9: 40,074,714	V140I	probably benign	Het
Orc4	A	T	2: 48,937,467	V38E	possibly damaging	Het
Ovgp1	T	C	3: 105,979,892		probably benign	Het
Palm3	T	A	8: 84,028,720	V287D	probably damaging	Het
Pde4dip	T	A	3: 97,843,712	H62L	probably benign	Het
Pdk4	G	T	6: 5,491,620	P100Q	probably damaging	Het
Pdss2	T	A	10: 43,372,176	H225Q	probably benign	Het
Pkhd1	A	T	1: 20,275,538	D2755E	probably benign	Het
Prune2	A	T	19: 17,121,389	D1419V	probably damaging	Het
Pth2r	A	C	1: 65,388,616	I483L	probably benign	Het
Qrsl1	A	G	10: 43,896,007		probably null	Het
Rab11fip4	A	G	11: 79,686,629	H403R	possibly damaging	Het
Ralgapa1	A	T	12: 55,677,238	I1548N	probably damaging	Het
Ric8a	T	G	7: 140,857,900		probably benign	Het
Rsbn1	T	C	3: 103,914,581	F44S	possibly damaging	Het
Serpinc1	T	A	1: 160,989,702	M1K	probably null	Het
Sf3b1	T	C	1: 55,019,257	I58V	probably damaging	Het
Sh3d19	T	A	3: 86,126,671	M777K	probably benign	Het
Sipa1	A	T	19: 5,654,065	M743K	probably benign	Het
Skint5	T	C	4: 113,937,621	H255R	probably benign	Het
Slco6b1	A	T	1: 96,988,673		noncoding transcript	Het
Slfn4	A	T	11: 83,186,951	R188S	probably damaging	Het
Sort1	T	C	3: 108,324,592		probably benign	Het
Spg21	A	T	9: 65,465,347	K20N	possibly damaging	Het
Sptbn2	A	T	19: 4,745,145	I1544F	probably benign	Het
Srf	T	C	17: 46,549,489	T456A	possibly damaging	Het
Ssbp2	T	A	13: 91,564,596		probably benign	Het
Stx2	C	T	5: 128,988,903	V230I	probably benign	Het
Sv2b	A	T	7: 75,206,439	D34E	possibly damaging	Het
Synpo2l	A	G	14: 20,661,788	S255P	probably damaging	Het
Tbx15	C	T	3: 99,352,391	P526L	probably damaging	Het
Tenm4	C	A	7: 96,694,950	P250Q	possibly damaging	Het
Tgm1	C	A	14: 55,710,927		probably benign	Het
Tgm1	T	C	14: 55,712,652		probably benign	Het
Thsd7b	A	G	1: 130,195,263	I1540V	probably benign	Het
Tnrc6c	A	G	11: 117,739,881	K1023E	probably damaging	Het
Ube2l6	A	T	2: 84,806,427		probably null	Het
Wdfy4	T	C	14: 33,083,785	D1735G	possibly damaging	Het
Wnt11	A	G	7: 98,847,383	K177E	probably damaging	Het
Wnt5a	A	T	14: 28,513,268	M70L	possibly damaging	Het
Wwc1	T	A	11: 35,852,348	E882V	probably damaging	Het
Zfp455	G	T	13: 67,198,664		probably null	Het
Zmpste24	A	G	4: 121,082,853	Y199H	probably damaging	Het

Other mutations in Uty

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0139:Uty	UTSW	Y	1197223	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
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

Predicted Primers

Posted On

2013-08-08