Mutagenetix > Incidental Mutation

Incidental Mutation 'R5677:Uty'

442863

Institutional Source

Beutler Lab

Gene Symbol

Uty

Ensembl Gene

ENSMUSG00000068457

Gene Name

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

Synonyms

Hydb

MMRRC Submission

043316-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5677 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

1096861-1245759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 1134902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 884 (Y884F)

Ref Sequence

ENSEMBL: ENSMUSP00000115113 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069309
AA Change: Y985F

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070012
Gene: ENSMUSG00000068457
AA Change: Y985F

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

possibly damaging
Transcript: ENSMUST00000139365
AA Change: Y984F

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114752
Gene: ENSMUSG00000068457
AA Change: Y984F

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: Y884F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115113
Gene: ENSMUSG00000068457
AA Change: Y884F

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 damaging
Transcript: ENSMUST00000154004
AA Change: Y922F

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

SMART Domains

Protein: ENSMUSP00000114910
Gene: ENSMUSG00000068457
AA Change: Y922F

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: ENSMUST00000185837

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,862,225 (GRCm39)	V22I	probably benign	Het
Abca8a	A	T	11: 109,929,225 (GRCm39)	V1296D	possibly damaging	Het
Abca8b	C	T	11: 109,831,687 (GRCm39)	S1328N	probably damaging	Het
Adcy1	G	A	11: 7,111,914 (GRCm39)	M926I	probably damaging	Het
Aff4	G	T	11: 53,291,102 (GRCm39)	M687I	possibly damaging	Het
Agbl2	T	A	2: 90,638,322 (GRCm39)	Y636N	possibly damaging	Het
Agtr1a	A	T	13: 30,565,567 (GRCm39)	I211F	probably damaging	Het
Alkbh8	T	G	9: 3,385,147 (GRCm39)	S480A	possibly damaging	Het
Ankrd13b	A	T	11: 77,368,370 (GRCm39)	V84E	probably damaging	Het
Ap3b1	C	T	13: 94,664,704 (GRCm39)	T881I	unknown	Het
Apbb1	A	C	7: 105,208,453 (GRCm39)	D617E	probably damaging	Het
Apobec4	A	G	1: 152,633,033 (GRCm39)	R354G	probably benign	Het
Brdt	T	G	5: 107,496,483 (GRCm39)	C198W	possibly damaging	Het
Cacna1b	G	T	2: 24,569,370 (GRCm39)	H851Q	possibly damaging	Het
Car2	G	T	3: 14,963,115 (GRCm39)	V217F	possibly damaging	Het
Ccdc24	A	C	4: 117,727,077 (GRCm39)		probably benign	Het
Chodl	C	A	16: 78,738,203 (GRCm39)	A57E	probably damaging	Het
Clgn	G	T	8: 84,136,167 (GRCm39)	C185F	probably damaging	Het
Cltc	G	T	11: 86,596,068 (GRCm39)	N1223K	probably damaging	Het
Cnot10	T	C	9: 114,458,161 (GRCm39)	N115S	probably damaging	Het
Col12a1	T	C	9: 79,606,603 (GRCm39)	R607G	probably damaging	Het
Cpd	A	G	11: 76,690,651 (GRCm39)	V835A	probably benign	Het
Cplane2	C	T	4: 140,947,177 (GRCm39)	P186L	probably benign	Het
Csmd3	G	C	15: 48,485,447 (GRCm39)	L153V	probably damaging	Het
Ctr9	A	G	7: 110,643,209 (GRCm39)	H527R	probably benign	Het
Cwc22	G	A	2: 77,759,787 (GRCm39)	R87W	probably damaging	Het
D930020B18Rik	T	A	10: 121,505,106 (GRCm39)	N107K	probably benign	Het
Dgkg	C	A	16: 22,388,921 (GRCm39)	V418L	probably benign	Het
Dhx40	A	G	11: 86,691,789 (GRCm39)		probably null	Het
Diaph1	A	T	18: 37,989,004 (GRCm39)	M910K	probably damaging	Het
Diras2	T	A	13: 52,661,711 (GRCm39)	M199L	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock5	T	A	14: 68,015,052 (GRCm39)	Q1302H	probably benign	Het
Dync1i2	T	C	2: 71,058,967 (GRCm39)	S90P	probably benign	Het
E2f8	A	T	7: 48,516,943 (GRCm39)	V812E	probably damaging	Het
Egfem1	C	A	3: 29,744,323 (GRCm39)	Q521K	probably damaging	Het
Fbxl18	A	T	5: 142,864,475 (GRCm39)	C699*	probably null	Het
Fgf3	C	T	7: 144,392,520 (GRCm39)	R26*	probably null	Het
Fpr-rs7	T	G	17: 20,334,365 (GRCm39)	I42L	probably benign	Het
Gm3159	T	A	14: 4,398,582 (GRCm38)	M91K	probably damaging	Het
Gprin3	A	G	6: 59,330,877 (GRCm39)	S477P	possibly damaging	Het
Grm8	A	T	6: 27,761,203 (GRCm39)		probably null	Het
Hepacam2	A	T	6: 3,466,142 (GRCm39)	D420E	probably damaging	Het
Hmcn1	A	T	1: 150,485,529 (GRCm39)	W4358R	probably benign	Het
Ifna6	G	A	4: 88,745,956 (GRCm39)	A102T	probably benign	Het
Ighv2-2	T	C	12: 113,552,142 (GRCm39)	Q32R	probably benign	Het
Igkv1-131	T	A	6: 67,743,242 (GRCm39)	Q47L	possibly damaging	Het
Il16	T	C	7: 83,323,761 (GRCm39)	E263G	probably damaging	Het
Kansl1	A	T	11: 104,225,974 (GRCm39)	C981S	probably benign	Het
Lrp1	A	T	10: 127,410,298 (GRCm39)	F1483I	probably damaging	Het
Ltf	T	C	9: 110,849,980 (GRCm39)	M1T	probably null	Het
Ly75	C	T	2: 60,129,426 (GRCm39)	R1653H	probably benign	Het
Macrod2	T	C	2: 142,018,587 (GRCm39)	F240S	probably damaging	Het
Man1c1	T	C	4: 134,296,371 (GRCm39)	E433G	probably damaging	Het
Mansc4	A	T	6: 146,983,047 (GRCm39)	M130K	probably benign	Het
Mccc1	C	T	3: 36,044,197 (GRCm39)		probably null	Het
Mink1	G	T	11: 70,495,991 (GRCm39)	R75L	possibly damaging	Het
Mst1	A	G	9: 107,958,485 (GRCm39)	D65G	probably damaging	Het
Myo9b	C	T	8: 71,796,330 (GRCm39)	A857V	probably damaging	Het
Ndufa4	A	G	6: 11,900,574 (GRCm39)	V70A	probably benign	Het
Npat	T	A	9: 53,466,400 (GRCm39)	S230T	probably benign	Het
Nr1d1	A	G	11: 98,662,134 (GRCm39)	Y167H	probably damaging	Het
Oca2	A	G	7: 56,064,210 (GRCm39)	D735G	probably damaging	Het
Odr4	G	A	1: 150,250,588 (GRCm39)	L319F	probably damaging	Het
Or2a7	T	C	6: 43,151,265 (GRCm39)	V115A	probably benign	Het
Or2b2	C	T	13: 21,887,393 (GRCm39)	T74I	probably benign	Het
Or2y13	A	G	11: 49,414,771 (GRCm39)	T74A	probably damaging	Het
Or7g20	T	A	9: 18,946,854 (GRCm39)	I145N	possibly damaging	Het
Otop1	A	G	5: 38,457,507 (GRCm39)	Y422C	probably damaging	Het
Pde4dip	G	A	3: 97,748,964 (GRCm39)	R126*	probably null	Het
Pdp2	C	T	8: 105,321,320 (GRCm39)	P390S	probably damaging	Het
Pds5b	A	T	5: 150,639,926 (GRCm39)	T14S	possibly damaging	Het
Pfkp	T	C	13: 6,638,631 (GRCm39)	E580G	probably damaging	Het
Piezo2	A	T	18: 63,250,767 (GRCm39)	L212Q	possibly damaging	Het
Piezo2	G	C	18: 63,250,768 (GRCm39)	L444V	probably benign	Het
Pla2g4d	T	A	2: 120,109,429 (GRCm39)	T207S	possibly damaging	Het
Plk2	C	A	13: 110,535,591 (GRCm39)	T471K	possibly damaging	Het
Potefam1	T	C	2: 111,041,910 (GRCm39)	T342A	probably benign	Het
Potegl	T	A	2: 23,102,730 (GRCm39)	L156Q	probably damaging	Het
Ppp1r3g	G	A	13: 36,153,245 (GRCm39)	E222K	probably damaging	Het
Pramel28	A	T	4: 143,691,708 (GRCm39)	D338E	possibly damaging	Het
Prkcg	A	G	7: 3,371,974 (GRCm39)	D480G	probably damaging	Het
Pxdc1	T	A	13: 34,836,178 (GRCm39)	T81S	probably benign	Het
Rnf150	A	T	8: 83,730,228 (GRCm39)	K253*	probably null	Het
Sae1	T	C	7: 16,104,387 (GRCm39)		probably null	Het
Scin	C	T	12: 40,113,258 (GRCm39)	D538N	probably damaging	Het
Serpinb3c	C	A	1: 107,199,533 (GRCm39)	K329N	probably damaging	Het
Sgo2b	T	A	8: 64,380,008 (GRCm39)	K941N	possibly damaging	Het
Six1	C	T	12: 73,093,058 (GRCm39)	S48N	possibly damaging	Het
Slc39a8	G	A	3: 135,590,449 (GRCm39)	G381R	probably damaging	Het
Slc9b1	A	G	3: 135,063,320 (GRCm39)	K35E	unknown	Het
Srek1	C	T	13: 103,895,752 (GRCm39)	A274T	probably damaging	Het
Steap2	A	T	5: 5,727,497 (GRCm39)	Y279*	probably null	Het
Svil	T	A	18: 5,046,823 (GRCm39)	L110*	probably null	Het
Syncrip	T	C	9: 88,338,762 (GRCm39)		probably benign	Het
Tcf20	A	G	15: 82,737,443 (GRCm39)	I1336T	probably benign	Het
Tecpr1	T	A	5: 144,155,451 (GRCm39)	K36*	probably null	Het
Tenm2	A	G	11: 36,032,510 (GRCm39)	V670A	probably damaging	Het
Thbd	G	A	2: 148,249,286 (GRCm39)	T194I	probably damaging	Het
Tm9sf2	A	T	14: 122,389,374 (GRCm39)		probably null	Het
Tmtc4	A	T	14: 123,187,911 (GRCm39)	I225N	probably damaging	Het
Tpp1	C	T	7: 105,396,743 (GRCm39)	V425M	probably damaging	Het
Trbc2	T	A	6: 41,524,746 (GRCm39)	Y144*	probably null	Het
Trps1	T	C	15: 50,709,504 (GRCm39)	D282G	probably damaging	Het
Tsc22d4	T	A	5: 137,745,404 (GRCm39)	S9R	probably damaging	Het
Upp1	T	A	11: 9,086,025 (GRCm39)	D287E	probably benign	Het
Uso1	A	C	5: 92,349,158 (GRCm39)	Q916H	probably damaging	Het
Vmn1r222	T	C	13: 23,416,950 (GRCm39)	R88G	probably damaging	Het
Vmn1r79	T	C	7: 11,910,928 (GRCm39)	V270A	possibly damaging	Het
Zbtb22	T	C	17: 34,136,709 (GRCm39)	S285P	probably benign	Het
Zfp385a	A	G	15: 103,226,492 (GRCm39)	V82A	probably damaging	Het
Zfp59	T	C	7: 27,553,594 (GRCm39)	F349L	probably benign	Het
Zfp780b	T	G	7: 27,662,224 (GRCm39)	H777P	probably benign	Het
Zfp82	T	C	7: 29,756,549 (GRCm39)	T178A	probably benign	Het
Zfp850	T	C	7: 27,688,513 (GRCm39)	Y565C	probably damaging	Het
Zfp957	A	G	14: 79,450,207 (GRCm39)	Y531H	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
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'- TCTGTCATTAGTGCCCTAAGTGG -3'
(R):5'- CTGATTTGCTTATTGGCTAGACAG -3'

Sequencing Primer
(F):5'- AGTTGTTTTTCATGGTTCCATAAAAG -3'
(R):5'- TCTGACTTTAGAATAGAAGCACAGG -3'

Posted On

2016-11-09