Mutagenetix > Incidental Mutation

Incidental Mutation 'R4872:Uhrf1bp1'

376698

Institutional Source

Beutler Lab

Gene Symbol

Uhrf1bp1

Ensembl Gene

ENSMUSG00000039512

Gene Name

UHRF1 (ICBP90) binding protein 1

Synonyms

1110020K19Rik, F830021D11Rik

MMRRC Submission

042482-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27856490-27900040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 27890136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 1110 (D1110Y)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114849]

AlphaFold

B2KF50

Predicted Effect

probably benign
Transcript: ENSMUST00000114849
AA Change: D1110Y

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: D1110Y

Domain	Start	End	E-Value	Type
Pfam:Chorein_N	1	104	2.6e-18	PFAM
low complexity region	234	247	N/A	INTRINSIC
low complexity region	297	306	N/A	INTRINSIC
low complexity region	1128	1144	N/A	INTRINSIC
low complexity region	1200	1216	N/A	INTRINSIC
low complexity region	1322	1333	N/A	INTRINSIC
low complexity region	1375	1386	N/A	INTRINSIC
coiled coil region	1394	1424	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137825

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (81/83)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	C	A	15: 91,191,311	V100L	probably benign	Het
Acad11	G	A	9: 104,086,266		probably benign	Het
Actb	C	T	5: 142,905,552		probably benign	Het
Ano9	G	A	7: 141,107,204	A374V	probably damaging	Het
Baz2b	T	C	2: 59,942,759		probably null	Het
Bpifb9b	T	A	2: 154,313,631	L350Q	probably damaging	Het
Cd27	T	A	6: 125,234,318		probably null	Het
Cd72	A	G	4: 43,449,563		probably benign	Het
Cdadc1	A	T	14: 59,564,524	S516T	probably benign	Het
Chst5	T	A	8: 111,890,560	I143F	possibly damaging	Het
Col20a1	T	C	2: 180,997,363	V452A	possibly damaging	Het
Cox11	C	A	11: 90,644,403	Q227K	probably benign	Het
Cpa6	A	G	1: 10,595,618		probably null	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dpm2	T	C	2: 32,571,191		probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Frem1	A	C	4: 82,963,150	N1273K	probably damaging	Het
Fry	T	C	5: 150,394,239		probably null	Het
Gm10306	G	T	4: 94,556,832		probably benign	Het
Gm5565	T	C	5: 146,158,103	T278A	probably benign	Het
Gm8180	A	G	14: 43,782,345	I40T	probably benign	Het
Iah1	T	C	12: 21,317,425	V44A	probably benign	Het
Iqgap3	C	T	3: 88,113,128	P360S	probably damaging	Het
Klhl28	T	A	12: 64,957,122	I206F	possibly damaging	Het
Krt13	A	G	11: 100,121,506		probably benign	Het
Lipo2	T	A	19: 33,749,514	D41V	probably benign	Het
Lrig2	C	G	3: 104,491,526	V229L	possibly damaging	Het
Lrrc32	C	T	7: 98,498,520	T169I	probably damaging	Het
Lrriq1	T	C	10: 103,178,788	N1053S	possibly damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Mgat4c	G	C	10: 102,388,738	R271P	probably damaging	Het
Mylk	A	G	16: 34,914,990	N780S	possibly damaging	Het
N4bp1	T	C	8: 86,861,048	T421A	probably benign	Het
Nat8f1	T	C	6: 85,910,313	T222A	probably benign	Het
Nsun2	T	C	13: 69,543,873		probably benign	Het
Oas2	T	A	5: 120,738,534	D448V	probably damaging	Het
Olfr129	C	A	17: 38,055,576	V6F	probably benign	Het
Olfr168	A	T	16: 19,530,633	C96S	probably damaging	Het
Olfr992	T	C	2: 85,400,428	Y35C	probably damaging	Het
Pgm2l1	T	A	7: 100,227,997	L25Q	probably damaging	Het
Pigp	A	T	16: 94,365,450	V133D	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Pomt2	C	T	12: 87,110,107	D752N	possibly damaging	Het
Ppat	T	C	5: 76,926,793	K65E	probably damaging	Het
Ptprn2	T	C	12: 117,161,694	L616P	probably damaging	Het
Rad54l2	A	G	9: 106,717,892	S289P	probably damaging	Het
Rbm39	G	A	2: 156,177,346	R31C	possibly damaging	Het
Rhbdf2	C	A	11: 116,601,945	V417L	probably benign	Het
Rnf157	T	A	11: 116,355,472	E255D	possibly damaging	Het
Rpl6l	A	T	10: 111,126,443		noncoding transcript	Het
Sec24c	A	G	14: 20,693,745	D1006G	probably damaging	Het
Sh3bp1	G	T	15: 78,908,037	A401S	probably benign	Het
Slc17a8	A	T	10: 89,576,505	D539E	probably benign	Het
Slc38a9	T	A	13: 112,689,564	S136R	probably damaging	Het
Smoc2	A	C	17: 14,369,033	T255P	probably benign	Het
Smyd2	T	C	1: 189,896,650	D152G	probably damaging	Het
Stab1	A	G	14: 31,140,393	V2328A	probably damaging	Het
Taar2	A	G	10: 23,940,693	I44V	probably benign	Het
Tbc1d4	T	C	14: 101,444,708	K1251E	probably benign	Het
Thada	G	A	17: 84,446,599	L315F	probably damaging	Het
Trbv14	T	C	6: 41,135,325	S19P	probably benign	Het
Ttc39c	T	C	18: 12,687,116		probably benign	Het
Ttc39d	A	G	17: 80,217,098	I395M	probably benign	Het
Ttn	T	C	2: 76,718,384	E31891G	probably damaging	Het
Ubr3	T	C	2: 69,970,183	V950A	probably damaging	Het
Usp9y	T	A	Y: 1,307,920	K2305N	probably damaging	Het
Vmn1r158	G	A	7: 22,790,754	T10I	possibly damaging	Het
Vmn2r78	T	A	7: 86,954,708	I698K	possibly damaging	Het
Vmn2r86	G	T	10: 130,453,591	T145K	probably damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Zfp51	T	C	17: 21,464,671	V516A	probably benign	Het
Zfp654	A	T	16: 64,785,782	S686T	probably benign	Het
Zfp846	T	A	9: 20,590,815	C55S	probably benign	Het

Other mutations in Uhrf1bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Uhrf1bp1	APN	17	27876917	splice site	probably benign
IGL00786:Uhrf1bp1	APN	17	27879292	missense	probably damaging	0.99
IGL01074:Uhrf1bp1	APN	17	27879291	missense	possibly damaging	0.94
IGL01780:Uhrf1bp1	APN	17	27893500	missense	probably damaging	1.00
IGL02668:Uhrf1bp1	APN	17	27886575	missense	possibly damaging	0.53
IGL02686:Uhrf1bp1	APN	17	27894589	missense	probably benign
IGL03240:Uhrf1bp1	APN	17	27893253	missense	probably benign	0.37
hades	UTSW	17	27894746	missense	probably damaging	1.00
R0167:Uhrf1bp1	UTSW	17	27880202	missense	possibly damaging	0.46
R0240:Uhrf1bp1	UTSW	17	27895870	splice site	probably benign
R0332:Uhrf1bp1	UTSW	17	27893294	critical splice donor site	probably null
R0668:Uhrf1bp1	UTSW	17	27895939	missense	probably benign	0.16
R0726:Uhrf1bp1	UTSW	17	27885489	missense	possibly damaging	0.50
R0964:Uhrf1bp1	UTSW	17	27887178	missense	probably damaging	0.96
R1125:Uhrf1bp1	UTSW	17	27893449	missense	probably damaging	1.00
R1139:Uhrf1bp1	UTSW	17	27890071	missense	possibly damaging	0.87
R1164:Uhrf1bp1	UTSW	17	27895380	critical splice donor site	probably null
R1192:Uhrf1bp1	UTSW	17	27890071	missense	possibly damaging	0.87
R1277:Uhrf1bp1	UTSW	17	27890071	missense	possibly damaging	0.87
R1279:Uhrf1bp1	UTSW	17	27890071	missense	possibly damaging	0.87
R1340:Uhrf1bp1	UTSW	17	27894721	missense	probably benign	0.00
R1341:Uhrf1bp1	UTSW	17	27877419	splice site	probably benign
R1344:Uhrf1bp1	UTSW	17	27894577	missense	probably benign	0.41
R1418:Uhrf1bp1	UTSW	17	27894577	missense	probably benign	0.41
R1552:Uhrf1bp1	UTSW	17	27890071	missense	possibly damaging	0.87
R1726:Uhrf1bp1	UTSW	17	27886251	splice site	probably null
R1791:Uhrf1bp1	UTSW	17	27894746	missense	probably damaging	1.00
R1796:Uhrf1bp1	UTSW	17	27890071	missense	possibly damaging	0.87
R2858:Uhrf1bp1	UTSW	17	27885462	missense	probably damaging	0.99
R3034:Uhrf1bp1	UTSW	17	27894746	missense	probably damaging	1.00
R4111:Uhrf1bp1	UTSW	17	27886090	nonsense	probably null
R4159:Uhrf1bp1	UTSW	17	27884087	missense	probably damaging	1.00
R4160:Uhrf1bp1	UTSW	17	27884087	missense	probably damaging	1.00
R4161:Uhrf1bp1	UTSW	17	27884087	missense	probably damaging	1.00
R4431:Uhrf1bp1	UTSW	17	27885931	missense	probably damaging	1.00
R4575:Uhrf1bp1	UTSW	17	27887503	missense	probably benign	0.02
R4657:Uhrf1bp1	UTSW	17	27890105	missense	probably benign	0.09
R4666:Uhrf1bp1	UTSW	17	27893503	missense	possibly damaging	0.95
R4825:Uhrf1bp1	UTSW	17	27877394	missense	probably damaging	0.98
R4956:Uhrf1bp1	UTSW	17	27889984	splice site	probably null
R4976:Uhrf1bp1	UTSW	17	27884026	missense	probably damaging	0.99
R4982:Uhrf1bp1	UTSW	17	27886606	missense	probably benign	0.05
R5017:Uhrf1bp1	UTSW	17	27894739	nonsense	probably null
R5033:Uhrf1bp1	UTSW	17	27886864	missense	probably damaging	0.99
R5137:Uhrf1bp1	UTSW	17	27876990	splice site	probably null
R5159:Uhrf1bp1	UTSW	17	27881556	missense	probably damaging	0.98
R5177:Uhrf1bp1	UTSW	17	27885018	missense	possibly damaging	0.94
R5196:Uhrf1bp1	UTSW	17	27856763	missense	probably benign	0.09
R5214:Uhrf1bp1	UTSW	17	27887515	missense	probably benign
R5352:Uhrf1bp1	UTSW	17	27887515	missense	probably benign
R5354:Uhrf1bp1	UTSW	17	27887515	missense	probably benign
R5425:Uhrf1bp1	UTSW	17	27887515	missense	probably benign
R5601:Uhrf1bp1	UTSW	17	27884494	missense	probably damaging	1.00
R6080:Uhrf1bp1	UTSW	17	27880297	missense	probably benign
R6088:Uhrf1bp1	UTSW	17	27884605	critical splice donor site	probably null
R6331:Uhrf1bp1	UTSW	17	27893201	missense	probably benign	0.01
R6529:Uhrf1bp1	UTSW	17	27879776	missense	possibly damaging	0.90
R6614:Uhrf1bp1	UTSW	17	27876925	missense	probably benign	0.18
R6701:Uhrf1bp1	UTSW	17	27887357	nonsense	probably null
R7082:Uhrf1bp1	UTSW	17	27890065	missense	probably damaging	1.00
R7158:Uhrf1bp1	UTSW	17	27886433	nonsense	probably null
R8338:Uhrf1bp1	UTSW	17	27876695	missense	probably damaging	1.00
R8914:Uhrf1bp1	UTSW	17	27886913	missense	possibly damaging	0.66
R9135:Uhrf1bp1	UTSW	17	27885928	nonsense	probably null
R9218:Uhrf1bp1	UTSW	17	27895555	missense	probably benign	0.00
R9421:Uhrf1bp1	UTSW	17	27876686	missense	probably damaging	1.00
R9495:Uhrf1bp1	UTSW	17	27893440	missense	probably damaging	1.00
R9514:Uhrf1bp1	UTSW	17	27893440	missense	probably damaging	1.00
R9621:Uhrf1bp1	UTSW	17	27886779	missense	probably benign	0.00
R9766:Uhrf1bp1	UTSW	17	27886825	missense	probably damaging	1.00
RF005:Uhrf1bp1	UTSW	17	27885531	missense	probably damaging	1.00
X0017:Uhrf1bp1	UTSW	17	27877341	missense	probably benign	0.03
Z1176:Uhrf1bp1	UTSW	17	27876676	missense	probably damaging	1.00
Z1176:Uhrf1bp1	UTSW	17	27886306	missense	probably damaging	1.00
Z1177:Uhrf1bp1	UTSW	17	27884966	missense	not run

Predicted Primers

PCR Primer
(F):5'- ACATTACCTGTCAGAACTGGG -3'
(R):5'- GATCAGGCCATAAGAACAAATGTAC -3'

Sequencing Primer
(F):5'- TTACCTGTCAGAACTGGGGAAGC -3'
(R):5'- AGTGCCCTCTAGGGATAA -3'

Posted On

2016-03-17