Mutagenetix > Incidental Mutation

Incidental Mutation 'R1344:Uhrf1bp1'

200774

Institutional Source

Beutler Lab

Gene Symbol

Uhrf1bp1

Ensembl Gene

ENSMUSG00000039512

Gene Name

UHRF1 (ICBP90) binding protein 1

Synonyms

1110020K19Rik, F830021D11Rik

MMRRC Submission

039409-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1344 (G1)

Quality Score

225

Status

Not 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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,179,151		probably benign	Het
Aco1	T	C	4: 40,179,008	Y336H	probably damaging	Het
Adamts12	T	A	15: 11,286,804	W832R	probably damaging	Het
Asxl2	A	G	12: 3,493,790	K320E	probably damaging	Het
Atrnl1	G	A	19: 57,935,705		probably null	Het
B4galnt2	A	C	11: 95,869,355	I282S	probably benign	Het
Bcl2l13	T	C	6: 120,876,327	I191T	probably benign	Het
Cd101	A	T	3: 101,018,775	Y209*	probably null	Het
Cd109	A	T	9: 78,672,550		probably null	Het
Cdc34	G	A	10: 79,685,300	A128T	probably damaging	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
Col12a1	T	A	9: 79,699,555	K529*	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
Dlec1	G	A	9: 119,130,017	E910K	probably benign	Het
Dnajc19	T	A	3: 34,058,012	N128I	probably damaging	Het
Dusp1	A	G	17: 26,508,319	V2A	probably benign	Het
Eea1	G	A	10: 95,994,999		probably null	Het
Elf1	T	C	14: 79,560,775	V34A	probably damaging	Het
Extl1	T	C	4: 134,359,241	D501G	probably damaging	Het
Fam160b1	G	A	19: 57,371,162	A45T	possibly damaging	Het
Fam198a	A	T	9: 121,978,386	H532L	probably damaging	Het
Fcgr2b	T	C	1: 170,961,081	Y319C	probably damaging	Het
Fxr2	A	G	11: 69,648,884	H247R	possibly damaging	Het
Gfra1	A	C	19: 58,238,417	S461A	possibly damaging	Het
Gli2	T	G	1: 118,841,936	I629L	probably damaging	Het
Gm21671	T	A	5: 25,953,109	T82S	probably benign	Het
Gm6614	A	G	6: 141,985,618	S474P	probably damaging	Het
Gpx3	G	A	11: 54,909,596	V207I	probably damaging	Het
Helz2	T	C	2: 181,237,596	D743G	possibly damaging	Het
Hormad2	A	G	11: 4,409,005		probably null	Het
Ifitm1	C	T	7: 140,968,350	T32M	probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Lrit2	A	G	14: 37,068,556	N64S	probably benign	Het
Lsm14a	A	T	7: 34,353,557	D322E	probably damaging	Het
Macf1	T	G	4: 123,433,453	R4752S	probably damaging	Het
Mark3	T	C	12: 111,627,837	I307T	possibly damaging	Het
Mpdz	T	A	4: 81,308,319	T1360S	probably benign	Het
Mtif2	G	A	11: 29,545,002	V701I	probably benign	Het
Myh3	A	G	11: 67,092,332	E895G	probably benign	Het
Ncan	A	C	8: 70,108,169	I716R	probably benign	Het
Ncor2	C	T	5: 125,025,446	R1867K	probably damaging	Het
Oas1d	C	T	5: 120,914,896	L5F	probably damaging	Het
Olfr399	A	T	11: 74,054,212	C182*	probably null	Het
Olfr45	T	C	7: 140,691,799	V298A	probably damaging	Het
Olfr747	T	A	14: 50,680,858	M259L	probably benign	Het
Olfr982	T	A	9: 40,074,472	L59H	probably damaging	Het
Otog	G	T	7: 46,274,615	A1133S	probably damaging	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Pcdhb2	G	A	18: 37,295,657	V228I	possibly damaging	Het
Pdcd11	A	G	19: 47,130,077	D1794G	probably damaging	Het
Pde1c	T	C	6: 56,361,767	I27V	probably benign	Het
Pde4d	C	A	13: 109,950,387	S609*	probably null	Het
Piezo2	T	A	18: 63,021,254	I2485F	probably damaging	Het
Plekhd1	A	G	12: 80,692,885	T3A	probably benign	Het
Plscr1	C	T	9: 92,259,304	T15I	unknown	Het
Rd3	T	C	1: 191,985,301	*106R	probably null	Het
Rnf125	A	G	18: 20,981,231	I97V	possibly damaging	Het
Sec24b	T	C	3: 130,007,423	N408S	probably damaging	Het
Sf3b3	G	C	8: 110,838,303	A291G	probably damaging	Het
Simc1	T	C	13: 54,550,479	V403A	probably damaging	Het
Slc38a9	T	C	13: 112,690,180	C151R	probably benign	Het
Slitrk5	A	G	14: 111,680,389	S482G	probably benign	Het
Smyd1	G	A	6: 71,262,167	T13I	probably benign	Het
Stoml2	T	A	4: 43,028,197	I344F	probably benign	Het
Tet1	C	T	10: 62,814,521	R1636H	probably damaging	Het
Thap12	A	G	7: 98,716,830	D735G	probably damaging	Het
Tnip3	T	C	6: 65,597,429	V88A	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
Ust	C	A	10: 8,298,190	V184F	possibly damaging	Het
Wdr95	G	A	5: 149,588,098	C421Y	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
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
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

2014-05-23