Mutagenetix > Incidental Mutation

Incidental Mutation 'R2508:Uty'

251659

Institutional Source

Beutler Lab

Gene Symbol

Uty

Ensembl Gene

ENSMUSG00000068457

Gene Name

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

Synonyms

Hydb

MMRRC Submission

040414-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2508 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

1096861-1245759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 1158182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 573 (H573Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119406 (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: H621Q

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: H621Q

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 damaging
Transcript: ENSMUST00000137048
AA Change: H573Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119406
Gene: ENSMUSG00000068457
AA Change: H573Q

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

possibly damaging
Transcript: ENSMUST00000139365
AA Change: H620Q

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: H620Q

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: H520Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: H520Q

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: ENSMUST00000154004
AA Change: H558Q

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: H558Q

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,872,132 (GRCm39)	T20I	probably benign	Het
Adamts2	C	T	11: 50,679,516 (GRCm39)	T832I	possibly damaging	Het
Agbl1	G	A	7: 76,239,298 (GRCm39)		probably null	Het
Ankrd61	T	C	5: 143,833,894 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,488,039 (GRCm39)	Y506S	possibly damaging	Het
Aox1	T	A	1: 58,382,832 (GRCm39)	H1037Q	probably benign	Het
Auh	G	A	13: 53,052,755 (GRCm39)	R47*	probably null	Het
B4galt5	T	A	2: 167,148,558 (GRCm39)	M187L	probably benign	Het
Bub1	A	T	2: 127,643,343 (GRCm39)	D1000E	probably benign	Het
Cacna1f	T	G	X: 7,492,687 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,279,039 (GRCm39)	L667P	probably damaging	Het
Cenpe	A	T	3: 134,946,834 (GRCm39)	R1116S	possibly damaging	Het
Ces1b	T	A	8: 93,799,969 (GRCm39)	M136L	possibly damaging	Het
Cfap54	T	C	10: 92,833,236 (GRCm39)	E1130G	possibly damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clu	T	C	14: 66,212,452 (GRCm39)	V135A	probably damaging	Het
Cmip	T	A	8: 118,163,432 (GRCm39)	S388T	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,029 (GRCm39)	V51E	possibly damaging	Het
Crym	T	C	7: 119,801,050 (GRCm39)	N33S	probably benign	Het
Ctcf	T	A	8: 106,398,016 (GRCm39)	V434E	probably damaging	Het
Daam1	G	A	12: 72,021,997 (GRCm39)	D732N	probably damaging	Het
Dcaf13	A	G	15: 39,008,547 (GRCm39)	Y383C	probably benign	Het
Dock2	T	C	11: 34,262,485 (GRCm39)	T957A	probably benign	Het
Duox1	A	G	2: 122,163,619 (GRCm39)	D817G	probably benign	Het
Eif1ad16	T	C	12: 87,985,258 (GRCm39)	Y95C	probably damaging	Het
Fads3	A	G	19: 10,033,818 (GRCm39)	Y401C	probably damaging	Het
Fam72a	T	C	1: 131,456,592 (GRCm39)		probably null	Het
Fbxw21	C	A	9: 108,974,553 (GRCm39)	K322N	probably benign	Het
Fdxr	G	A	11: 115,162,806 (GRCm39)	T100I	probably damaging	Het
Galnt11	C	G	5: 25,452,610 (GRCm39)	P41A	probably damaging	Het
Glb1l	T	C	1: 75,178,473 (GRCm39)	T322A	probably damaging	Het
Gm6871	T	A	7: 41,197,414 (GRCm39)	T149S	probably benign	Het
Gpr26	C	T	7: 131,568,823 (GRCm39)	T56I	probably damaging	Het
Grik4	C	A	9: 42,533,438 (GRCm39)	G361C	probably damaging	Het
Gsr	T	G	8: 34,170,316 (GRCm39)	D200E	probably benign	Het
Igsf5	T	A	16: 96,165,247 (GRCm39)	D7E	probably benign	Het
Inpp5e	T	A	2: 26,289,355 (GRCm39)	I522F	probably damaging	Het
Insm2	C	A	12: 55,647,096 (GRCm39)	T280K	probably benign	Het
Itih4	T	C	14: 30,617,435 (GRCm39)	V585A	probably damaging	Het
Katnip	T	A	7: 125,394,515 (GRCm39)	V197D	probably benign	Het
Knl1	A	T	2: 118,888,849 (GRCm39)	R17*	probably null	Het
Lag3	G	T	6: 124,888,272 (GRCm39)	L15I	possibly damaging	Het
Lepr	T	A	4: 101,648,093 (GRCm39)	S861T	probably damaging	Het
Mcur1	A	T	13: 43,697,941 (GRCm39)	Y320N	probably damaging	Het
Mgam	A	T	6: 40,736,717 (GRCm39)	D872V	probably damaging	Het
Mlycd	T	C	8: 120,134,446 (GRCm39)		probably null	Het
Mpl	C	A	4: 118,312,954 (GRCm39)	C193F	probably damaging	Het
Mycbp2	C	A	14: 103,368,681 (GRCm39)	A4142S	probably damaging	Het
Myh1	T	A	11: 67,104,424 (GRCm39)	D993E	possibly damaging	Het
N4bp2	T	A	5: 65,947,404 (GRCm39)	D11E	probably benign	Het
Neb	T	C	2: 52,085,533 (GRCm39)	I1521V	probably benign	Het
Notch1	A	G	2: 26,355,485 (GRCm39)	V1744A	possibly damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or4p20	T	C	2: 88,253,800 (GRCm39)	T190A	possibly damaging	Het
Or6c66	T	A	10: 129,461,784 (GRCm39)	I49L	probably benign	Het
Or8k23	A	G	2: 86,186,708 (GRCm39)	L6P	possibly damaging	Het
Otogl	A	G	10: 107,710,361 (GRCm39)	L576P	probably damaging	Het
P2ry1	C	T	3: 60,910,900 (GRCm39)	T13M	probably damaging	Het
Pak6	A	T	2: 118,525,050 (GRCm39)	R559*	probably null	Het
Parvb	A	T	15: 84,182,171 (GRCm39)	M234L	probably benign	Het
Pcdha11	T	C	18: 37,145,907 (GRCm39)	V666A	possibly damaging	Het
Pde3b	T	A	7: 114,126,092 (GRCm39)	Y775*	probably null	Het
Pgam5	A	G	5: 110,413,869 (GRCm39)	L98P	probably damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Pkib	T	G	10: 57,604,205 (GRCm39)	D4E	probably damaging	Het
Plcb1	A	T	2: 135,102,428 (GRCm39)	I202F	probably benign	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Prdm1	T	A	10: 44,322,803 (GRCm39)	T249S	probably benign	Het
Prpf39	T	A	12: 65,104,589 (GRCm39)	F551L	probably benign	Het
Prune2	A	G	19: 17,099,986 (GRCm39)	E1830G	probably benign	Het
Ralgapa1	G	A	12: 55,764,986 (GRCm39)	P889S	probably damaging	Het
Rassf2	A	T	2: 131,840,163 (GRCm39)		probably null	Het
Rnf185	A	G	11: 3,368,067 (GRCm39)	Y204H	probably benign	Het
Rpap1	A	G	2: 119,610,535 (GRCm39)		probably null	Het
Rufy3	T	C	5: 88,797,757 (GRCm39)	S645P	probably damaging	Het
Scn11a	T	A	9: 119,594,595 (GRCm39)	Y1266F	probably damaging	Het
Senp7	T	A	16: 55,971,725 (GRCm39)	H287Q	probably benign	Het
Sgsm3	T	C	15: 80,888,073 (GRCm39)		probably null	Het
Slc25a11	A	T	11: 70,536,658 (GRCm39)	V104E	possibly damaging	Het
Slc25a13	G	A	6: 6,117,190 (GRCm39)	T175I	probably benign	Het
Slc26a3	T	A	12: 31,520,902 (GRCm39)	F702Y	probably damaging	Het
Smco2	T	A	6: 146,761,465 (GRCm39)	L184H	probably damaging	Het
Ssc4d	A	T	5: 135,994,461 (GRCm39)	C90S	probably damaging	Het
Sspo	T	C	6: 48,441,298 (GRCm39)	S1835P	probably damaging	Het
Stk35	A	G	2: 129,643,435 (GRCm39)	T140A	probably damaging	Het
Syngr1	C	T	15: 79,995,941 (GRCm39)	T160M	probably damaging	Het
Tent2	A	G	13: 93,320,726 (GRCm39)	L109S	probably damaging	Het
Tgfb1i1	A	G	7: 127,848,085 (GRCm39)		probably null	Het
Thoc1	T	A	18: 9,977,947 (GRCm39)	V296E	probably damaging	Het
Timp2	C	T	11: 118,201,412 (GRCm39)	C75Y	probably damaging	Het
Tlr1	T	C	5: 65,082,639 (GRCm39)	Y646C	probably damaging	Het
Tprn	G	A	2: 25,158,940 (GRCm39)	E655K	possibly damaging	Het
Trbv14	A	C	6: 41,112,424 (GRCm39)	I74L	probably benign	Het
Trbv5	T	A	6: 41,039,555 (GRCm39)	Y53*	probably null	Het
Trpm5	T	C	7: 142,642,656 (GRCm39)	Q97R	possibly damaging	Het
Tut1	A	G	19: 8,932,931 (GRCm39)	D88G	probably damaging	Het
Ucp2	A	T	7: 100,147,620 (GRCm39)	I200F	probably benign	Het
Unc45a	G	A	7: 79,988,623 (GRCm39)	S131L	probably benign	Het
Vmn1r17	T	A	6: 57,337,855 (GRCm39)	Y121F	possibly damaging	Het
Vmn1r53	T	C	6: 90,200,554 (GRCm39)	I257V	probably benign	Het
Vmn2r90	C	T	17: 17,954,229 (GRCm39)	L798F	probably damaging	Het
Vmn2r94	A	T	17: 18,477,736 (GRCm39)	M225K	probably benign	Het
Wdr24	A	T	17: 26,043,273 (GRCm39)	I32F	possibly damaging	Het
Zc3h11a	T	A	1: 133,552,521 (GRCm39)	T529S	probably benign	Het
Zc3h4	A	G	7: 16,168,264 (GRCm39)	H791R	unknown	Het
Zfp24	A	G	18: 24,150,927 (GRCm39)	L73P	probably damaging	Het
Zfp616	T	C	11: 73,974,121 (GRCm39)	I130T	probably benign	Het
Zim1	ACAGCAG	ACAGCAGCAG	7: 6,680,429 (GRCm39)		probably benign	Het
Zim1	CAG	CAGAAG	7: 6,680,430 (GRCm39)		probably benign	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
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
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'- GCCAACATTAACACTGGCAG -3'
(R):5'- ACTTTACCAAAGAGAGCAAGGATTC -3'

Sequencing Primer
(F):5'- TTAACACTGGCAGAACTCTCTAAG -3'
(R):5'- AGGATTCAAGAAGTAAATCCTTGAC -3'

Posted On

2014-12-04