Mutagenetix > Incidental Mutation

Incidental Mutation 'R7158:Uhrf1bp1'

557471

Institutional Source

Beutler Lab

Gene Symbol

Uhrf1bp1

Ensembl Gene

ENSMUSG00000039512

Gene Name

UHRF1 (ICBP90) binding protein 1

Synonyms

1110020K19Rik, F830021D11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27856490-27900040 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 27886433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 644 (C644*)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

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

AlphaFold

B2KF50

Predicted Effect

probably null
Transcript: ENSMUST00000114849
AA Change: C644*

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: C644*

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,273,982	M454L	probably benign	Het
Abca8b	T	A	11: 109,934,589	E1595V	probably damaging	Het
Actr5	T	A	2: 158,626,414	C155S	possibly damaging	Het
Acvr1b	T	A	15: 101,194,058	V73E	probably benign	Het
Add2	T	C	6: 86,085,952	Y31H	probably damaging	Het
Akap13	G	T	7: 75,579,594	V92F	probably damaging	Het
Alox8	T	A	11: 69,185,870	M568L	probably benign	Het
Birc6	A	T	17: 74,594,376	E1145V	probably benign	Het
Cacng1	A	T	11: 107,703,839	M166K	probably damaging	Het
Ces1f	A	G	8: 93,268,016	F256L	probably benign	Het
Clpb	A	G	7: 101,663,832	R8G	probably benign	Het
Col6a5	A	G	9: 105,864,208	V2504A	possibly damaging	Het
Coq8a	T	C	1: 180,179,184	D93G	probably benign	Het
Cry2	A	T	2: 92,413,715	I371N	probably damaging	Het
Ddx43	A	C	9: 78,412,219	Q276H	probably damaging	Het
Dock10	T	C	1: 80,586,872		probably null	Het
Dst	A	G	1: 34,274,285	T4378A	probably benign	Het
Fezf1	T	C	6: 23,245,790	T459A	probably benign	Het
Gm10097	C	T	10: 5,069,407	A72V	unknown	Het
Hydin	A	G	8: 110,609,671	S5027G	possibly damaging	Het
Inhbb	A	T	1: 119,421,022	L22*	probably null	Het
Kat8	G	A	7: 127,922,159	G228S	probably benign	Het
Kif15	T	A	9: 122,999,314	S897T	probably benign	Het
Kndc1	A	G	7: 139,931,860	Y1460C	possibly damaging	Het
Krt78	T	A	15: 101,951,806	D225V	probably benign	Het
Lama3	A	T	18: 12,456,812	I800F	probably benign	Het
Mdn1	C	A	4: 32,725,121	T2580K	probably benign	Het
Mest	T	C	6: 30,744,914	F201S	possibly damaging	Het
Mtmr9	A	G	14: 63,526,869	F470L	probably benign	Het
Nfic	C	T	10: 81,420,605	R75Q	probably damaging	Het
Nme2	G	A	11: 93,955,658		probably benign	Het
Nrg4	A	G	9: 55,242,100	L71P	probably damaging	Het
Pacsin2	C	T	15: 83,379,742	E365K	possibly damaging	Het
Pappa	T	C	4: 65,204,867	I813T	possibly damaging	Het
Pcdhgb4	A	G	18: 37,720,885	E111G	probably damaging	Het
Pdzd8	C	T	19: 59,300,157	R937H	probably damaging	Het
Per1	T	G	11: 69,104,104		probably benign	Het
Pex2	A	G	3: 5,561,336	F138L	probably benign	Het
Pold1	A	T	7: 44,538,866	N529K	probably damaging	Het
Pou6f2	T	C	13: 18,152,038	I316V		Het
Prom1	A	C	5: 44,012,913	I682S	probably damaging	Het
Prpf40a	T	C	2: 53,152,553	K481E	probably damaging	Het
Prrg4	A	T	2: 104,832,613	V216E	probably damaging	Het
Ptch2	C	T	4: 117,114,784	P1168S	possibly damaging	Het
Pvr	C	A	7: 19,918,637	E118*	probably null	Het
R3hcc1l	C	T	19: 42,583,429	P716S	probably damaging	Het
Rasa4	A	G	5: 136,102,021	E382G	probably damaging	Het
Rbp3	T	A	14: 33,955,556	M487K	probably benign	Het
Rsad2	A	T	12: 26,450,780		probably null	Het
Shmt1	T	C	11: 60,790,242	I353V	probably benign	Het
Shprh	C	T	10: 11,166,730	T819I	probably damaging	Het
Skap1	T	A	11: 96,526,057	F56Y	possibly damaging	Het
Slc22a16	G	T	10: 40,573,741	V79L	possibly damaging	Het
Slc34a1	A	G	13: 55,401,231	T165A	probably damaging	Het
Smchd1	A	C	17: 71,400,150	I941R	probably damaging	Het
Syne1	C	A	10: 5,057,931	V98F	probably damaging	Het
Tcaim	A	G	9: 122,818,990	D190G	possibly damaging	Het
Tdrd9	G	C	12: 112,036,366	E816D	probably benign	Het
Tmem132d	T	C	5: 128,137,019	K326E	possibly damaging	Het
Usp35	T	C	7: 97,325,964	M1V	probably null	Het
Wdr62	C	T	7: 30,270,738	V215I	possibly damaging	Het
Zan	T	C	5: 137,400,644	T4153A	unknown	Het
Zfp239	G	T	6: 117,871,729	E143*	probably null	Het
Zfp292	T	C	4: 34,808,679	D1460G	probably benign	Het
Zfp647	C	T	15: 76,917,305	G90R	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
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'- GCATGGCCTTAACTGTGTCTC -3'
(R):5'- AAAATTCAGGGTATGGCCTCTG -3'

Sequencing Primer
(F):5'- GCTCGCTCTCTGAAGGTGAG -3'
(R):5'- GAAGTTTTCTGTGCCTTCAAAGTC -3'

Posted On

2019-06-26