Mutagenetix > Incidental Mutation

Incidental Mutation 'RF005:Uhrf1bp1'

602788

Institutional Source

Beutler Lab

Gene Symbol

Uhrf1bp1

Ensembl Gene

ENSMUSG00000039512

Gene Name

UHRF1 (ICBP90) binding protein 1

Synonyms

1110020K19Rik, F830021D11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF005 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27856490-27900040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27885531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 517 (D517V)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

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

AlphaFold

B2KF50

Predicted Effect

probably damaging
Transcript: ENSMUST00000114849
AA Change: D517V

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

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: D517V

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

94% (65/69)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,884		probably benign	Het
A030005L19Rik	CTGCTG	CTGCTGTGGATGCTG	1: 82,913,585		probably benign	Het
Abca1	G	T	4: 53,049,125	T1651N	probably damaging	Het
Adamtsl3	A	G	7: 82,612,395	T40A		Het
Adgra3	A	T	5: 50,013,387		probably null	Het
Apcs	A	T	1: 172,894,242	M179K	probably damaging	Het
Baiap2	G	A	11: 119,996,529	E217K	possibly damaging	Het
Ccdc69	A	G	11: 55,060,523	L24P	probably damaging	Het
Cdh16	T	G	8: 104,617,052	N604T	probably damaging	Het
Cfb	C	T	17: 34,858,046	V538I	possibly damaging	Het
Col6a3	A	G	1: 90,811,262	S1022P	probably benign	Het
Cpeb1	A	G	7: 81,361,806	L129S	possibly damaging	Het
Crybg1	A	G	10: 44,004,745	V149A	probably benign	Het
Cyp4f16	C	A	17: 32,545,195		probably null	Het
Dlg5	G	A	14: 24,158,493	Q882*	probably null	Het
Fsip2	T	A	2: 82,992,532	I6203K	probably benign	Het
Gabre	CCGGCT	CCGGCTACGGCT	X: 72,270,045		probably null	Het
Gm17660	A	C	5: 104,074,859		probably null	Het
Gm9513	T	C	9: 36,475,674	S13P	possibly damaging	Het
Gprc5d	A	T	6: 135,116,519	L130Q	probably damaging	Het
H13	G	A	2: 152,669,669	E30K	probably damaging	Het
Hmcn1	T	A	1: 150,635,146	K3609*	probably null	Het
Hsdl2	GCTGCAG	GCTGCAGCAGCAGCCACATCTGCAG	4: 59,610,652		probably benign	Het
Kl	A	C	5: 150,953,420	Y235S	probably benign	Het
Map6d1	G	A	16: 20,241,000	T105I	probably benign	Het
Mast4	GGTGGTGGTGG	GGTGGTGGTGGTGGTGG	13: 102,736,307		probably benign	Het
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,273,573		probably benign	Het
Mms22l	A	G	4: 24,517,207	I363V	probably benign	Het
Myo7a	T	C	7: 98,093,617	I391V	probably benign	Het
Nab2	A	T	10: 127,664,364	D286E	probably benign	Het
Nrxn1	G	A	17: 90,362,876	R1144C	probably damaging	Het
Olfr1039	T	C	2: 86,131,070	M198V	probably benign	Het
Olfr592	T	C	7: 103,186,691	I30T	possibly damaging	Het
Olfr635	A	G	7: 103,979,561	D123G	probably damaging	Het
Pan2	G	A	10: 128,315,535	E842K	probably benign	Het
Prex2	A	C	1: 11,185,166	D1145A	possibly damaging	Het
Prop1	A	C	11: 50,951,130	Y150D	possibly damaging	Het
Prp2	AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	6: 132,600,501		probably benign	Het
Psip1	T	C	4: 83,460,498	I353M	probably damaging	Het
Rapgef1	C	A	2: 29,707,195		probably null	Het
Rgl1	G	A	1: 152,521,363	S684L	probably benign	Het
Sbf2	T	A	7: 110,317,008	D1552V	probably damaging	Het
Serpinh1	C	T	7: 99,346,203	V391M	probably damaging	Het
Slc35e4	A	T	11: 3,907,960	L215Q	possibly damaging	Het
Tbl3	TCTT	TCTTCTT	17: 24,702,541		probably benign	Het
Tex15	T	A	8: 33,576,677	M2045K	probably benign	Het
Tmprss15	T	C	16: 78,953,801	*1070W	probably null	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,649,750		probably benign	Het
Trav15-2-dv6-2	GGAG	GGAGGAG	14: 53,649,751		probably benign	Het
Trav15-2-dv6-2	GAA	GAACAA	14: 53,649,754		probably benign	Het
Trim33	GCCCCGGCCCCCG	GCCCCG	3: 103,280,212		probably null	Het
Triobp	GACAA	GACAACCCCAGGACTCCCTGTGCCCAACGGAACAA	15: 78,967,061		probably benign	Het
Tub	C	A	7: 109,022,639	Q95K	probably benign	Het
Usp9y	T	A	Y: 1,435,046	Q261L	probably benign	Het
Utp20	A	T	10: 88,825,457	D29E	probably damaging	Het
Vill	G	A	9: 119,060,439	V148M	probably damaging	Het
Vmn2r120	C	T	17: 57,521,991	E535K	possibly damaging	Het
Zfp451	A	T	1: 33,776,792	Y692*	probably null	Het
Zfp599	A	C	9: 22,253,884	V65G	probably benign	Het
Zfp808	T	C	13: 62,171,299	V114A	probably benign	Het
Znrd1as	CACCACCACCACCACCACCAC	CACCACCACCACCACCACCACAACCACCACCACCACCACCAC	17: 36,965,048		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
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
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'- GAGCTTGGACTGGCTACATG -3'
(R):5'- ACACGGCATGGCTTTCCTTG -3'

Sequencing Primer
(F):5'- ACTGGCTACATGGGACCCATC -3'
(R):5'- CCTGGAGAGACTATCAACTTCTG -3'

Posted On

2019-12-04