Mutagenetix > Incidental Mutation

Incidental Mutation 'R1418:Uhrf1bp1'

159960

Institutional Source

Beutler Lab

Gene Symbol

Uhrf1bp1

Ensembl Gene

ENSMUSG00000039512

Gene Name

UHRF1 (ICBP90) binding protein 1

Synonyms

1110020K19Rik, F830021D11Rik

MMRRC Submission

039474-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27856490-27900040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27894577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1241 (K1241R)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

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

AlphaFold

B2KF50

Predicted Effect

probably benign
Transcript: ENSMUST00000114849
AA Change: K1241R

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: K1241R

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

0.0701

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

97% (92/95)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,179,151		probably benign	Het
Adamts12	T	A	15: 11,286,804	W832R	probably damaging	Het
Alb	A	G	5: 90,464,202		probably benign	Het
Arnt	A	G	3: 95,470,399		probably benign	Het
Asap2	A	C	12: 21,239,585	N501H	probably damaging	Het
Asap2	A	G	12: 21,239,589	E499G	probably damaging	Het
Atp5b	C	T	10: 128,083,298		probably benign	Het
Atrnl1	G	A	19: 57,935,705		probably null	Het
AW554918	T	G	18: 25,339,699		probably null	Het
Bod1l	G	A	5: 41,819,471	T1500I	probably damaging	Het
Btbd11	C	A	10: 85,645,578	T948K	probably damaging	Het
Cd101	A	T	3: 101,018,775	Y209*	probably null	Het
Cdk12	T	A	11: 98,241,785	S1013R	unknown	Het
Cntd1	T	A	11: 101,285,740	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,344,870		probably null	Het
Col17a1	T	A	19: 47,671,505	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,238,738	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,405,905		probably null	Het
Dcun1d3	A	G	7: 119,857,935	F185L	probably damaging	Het
Dnah17	T	A	11: 118,074,023	N2365Y	probably damaging	Het
Dnah7a	T	A	1: 53,647,236		probably benign	Het
Dnajc16	G	T	4: 141,767,741	S520*	probably null	Het
Dsg1b	G	T	18: 20,397,430	E381*	probably null	Het
Dusp1	A	G	17: 26,508,319	V2A	probably benign	Het
Elf1	T	C	14: 79,560,775	V34A	probably damaging	Het
Endou	A	T	15: 97,718,973		probably benign	Het
Epn2	A	G	11: 61,523,086	S419P	probably benign	Het
Fam160b1	G	A	19: 57,371,162	A45T	possibly damaging	Het
Fat4	T	C	3: 38,890,813	I1285T	probably damaging	Het
Fcgr2b	T	C	1: 170,961,081	Y319C	probably damaging	Het
Gfra1	A	C	19: 58,238,417	S461A	possibly damaging	Het
Gli2	T	G	1: 118,841,936	I629L	probably damaging	Het
Gm13083	T	A	4: 143,616,034	I237K	probably benign	Het
Gm17661	GA	GAA	2: 90,917,709		noncoding transcript	Het
Gm5096	A	G	18: 87,757,334	K327R	probably damaging	Het
Gnas	C	T	2: 174,345,214		probably benign	Het
Gpx3	G	A	11: 54,909,596	V207I	probably damaging	Het
Hormad2	A	G	11: 4,409,005		probably null	Het
Hsd17b4	G	T	18: 50,130,187		probably benign	Het
Kmt2b	A	G	7: 30,576,960		probably benign	Het
Lrch1	T	C	14: 74,804,269		probably benign	Het
Mark3	T	C	12: 111,627,837	I307T	possibly damaging	Het
Mroh8	G	A	2: 157,241,854		probably benign	Het
Mtch2	A	T	2: 90,853,015		probably benign	Het
Mtif2	G	A	11: 29,545,002	V701I	probably benign	Het
Mug1	C	T	6: 121,838,676	S13L	probably benign	Het
Naa25	T	G	5: 121,423,734	L450R	probably damaging	Het
Nr4a2	A	T	2: 57,108,324	N543K	probably damaging	Het
Nrp2	C	T	1: 62,783,332	R695*	probably null	Het
Olfr1115	G	T	2: 87,252,422	G162C	probably benign	Het
Olfr373	T	C	8: 72,100,387	L209P	probably damaging	Het
Olfr982	T	A	9: 40,074,472	L59H	probably damaging	Het
Otog	G	T	7: 46,274,615	A1133S	probably damaging	Het
Pclo	A	T	5: 14,678,130		probably benign	Het
Pdcd11	A	G	19: 47,130,077	D1794G	probably damaging	Het
Pde4d	C	A	13: 109,950,387	S609*	probably null	Het
Pkn3	T	A	2: 30,083,047	V323E	probably damaging	Het
Plekhd1	A	G	12: 80,692,885	T3A	probably benign	Het
Plekhg4	G	A	8: 105,379,110	A736T	probably benign	Het
Plppr2	C	T	9: 21,947,789	P401S	possibly damaging	Het
Poln	A	G	5: 34,078,975	V604A	probably benign	Het
Prkd2	A	G	7: 16,869,545	D800G	probably benign	Het
Ptprb	A	G	10: 116,319,470	T710A	probably benign	Het
Qrfpr	C	A	3: 36,180,095	G366W	probably damaging	Het
Qser1	C	A	2: 104,777,431	A1471S	probably damaging	Het
Ralbp1	A	T	17: 65,859,148		probably benign	Het
Rars	A	T	11: 35,809,740	Y505N	probably damaging	Het
Sec24b	T	C	3: 130,007,423	N408S	probably damaging	Het
Slc38a9	T	C	13: 112,690,180	C151R	probably benign	Het
Smcr8	T	C	11: 60,778,032	I2T	probably damaging	Het
Smtnl2	T	C	11: 72,401,421	T301A	probably damaging	Het
Smyd1	G	A	6: 71,262,167	T13I	probably benign	Het
Sp110	G	A	1: 85,594,385	H66Y	probably benign	Het
Szt2	A	T	4: 118,387,779	S1187T	probably benign	Het
Tdo2	A	G	3: 81,961,468		probably null	Het
Tfap2a	T	A	13: 40,717,204	M405L	possibly damaging	Het
Thap12	A	G	7: 98,716,830	D735G	probably damaging	Het
Tmem132b	C	A	5: 125,638,249	Q341K	probably benign	Het
Tnip3	T	C	6: 65,597,429	V88A	probably benign	Het
Trim45	G	T	3: 100,927,298	M432I	probably benign	Het
Ttn	A	G	2: 76,735,411	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,418,575	F989S	probably damaging	Het
Ubox5	A	G	2: 130,600,290	L159P	probably damaging	Het
Uevld	A	T	7: 46,938,010	V314E	possibly damaging	Het
Urb1	T	C	16: 90,769,466	M1478V	probably damaging	Het
Utrn	C	T	10: 12,713,350	V871I	probably benign	Het
Vat1l	T	C	8: 114,282,361		probably benign	Het
Vmn1r205	T	C	13: 22,592,879	K18E	probably benign	Het
Zfp518a	T	A	19: 40,914,359	Y911N	probably damaging	Het
Zfyve28	A	G	5: 34,217,246	C475R	probably damaging	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
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
R4872:Uhrf1bp1	UTSW	17	27890136	missense	probably benign	0.10
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'- TCCACTGAATTGCCCTGCACAC -3'
(R):5'- ACCGTTGAGCACTGAGGTGAAC -3'

Sequencing Primer
(F):5'- ATGCGAGTGTCAAGGCACC -3'
(R):5'- CACTGAGGTGAACAGCTCCAG -3'

Posted On

2014-03-14