Mutagenetix > Incidental Mutation

Incidental Mutation 'R5425:Uhrf1bp1'

426847

Institutional Source

Beutler Lab

Gene Symbol

Uhrf1bp1

Ensembl Gene

ENSMUSG00000039512

Gene Name

UHRF1 (ICBP90) binding protein 1

Synonyms

1110020K19Rik, F830021D11Rik

MMRRC Submission

042991-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5425 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27856490-27900040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27887515 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 1005 (S1005N)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

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

AlphaFold

B2KF50

Predicted Effect

probably benign
Transcript: ENSMUST00000114849
AA Change: S1005N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: S1005N

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: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	T	C	9: 94,537,692	S62G	probably damaging	Het
Ace	A	G	11: 105,973,428	E465G	probably damaging	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Aida	T	A	1: 183,322,346	C174S	possibly damaging	Het
Aldh1a2	G	A	9: 71,253,004	R104H	probably benign	Het
Aldh3a1	T	C	11: 61,213,581	L98P	probably benign	Het
Ankmy1	G	T	1: 92,870,957	Y20*	probably null	Het
Arhgap9	C	A	10: 127,326,418	N314K	probably damaging	Het
Atxn7l1	T	C	12: 33,367,120	Y427H	probably damaging	Het
Bola3	G	T	6: 83,349,552	G18W	probably benign	Het
Carmil3	A	G	14: 55,493,877	T138A	probably benign	Het
Ccnd2	A	G	6: 127,150,617	Y53H	probably benign	Het
Cd101	T	A	3: 101,018,686	D239V	probably damaging	Het
Ces1g	T	A	8: 93,325,800	Q287L	probably benign	Het
Cfap43	C	T	19: 47,896,932	A415T	possibly damaging	Het
Cfap74	A	G	4: 155,455,692		probably benign	Het
Crnn	A	G	3: 93,149,149	K414R	probably benign	Het
Csf1	A	G	3: 107,748,896	L273P	possibly damaging	Het
Dab2ip	T	G	2: 35,709,991	H206Q	probably benign	Het
Diras2	A	G	13: 52,508,047	S75P	probably damaging	Het
Dst	T	C	1: 34,179,750	V1757A	probably benign	Het
Dus4l	A	T	12: 31,640,808	H281Q	probably damaging	Het
Faah	A	T	4: 116,000,796	M436K	probably null	Het
Fat1	T	C	8: 45,025,885	V2656A	possibly damaging	Het
Ffar1	A	C	7: 30,860,779	L231R	probably damaging	Het
Gab1	T	C	8: 80,800,389	K27E	probably damaging	Het
Gatsl3	T	A	11: 4,221,689	H304Q	probably damaging	Het
Gm14403	AAACCCTA	AA	2: 177,509,655		probably benign	Het
Gm8909	A	C	17: 36,168,485	L8R	probably damaging	Het
Irx6	T	C	8: 92,677,517		probably null	Het
Mcrs1	C	A	15: 99,243,688	R376L	probably damaging	Het
Mrgprb1	T	A	7: 48,447,971	L64F	possibly damaging	Het
Nck2	T	G	1: 43,554,392	V253G	probably benign	Het
Paip1	C	T	13: 119,430,166	T12M	possibly damaging	Het
Pdpk1	A	T	17: 24,098,121	L256Q	probably damaging	Het
Perm1	A	G	4: 156,218,295	D432G	probably benign	Het
Psg25	A	T	7: 18,524,784	Y322*	probably null	Het
Pzp	G	A	6: 128,489,048	A1223V	probably damaging	Het
Rassf8	A	T	6: 145,815,542	Y198F	probably benign	Het
Repin1	A	G	6: 48,596,431	Q42R	probably benign	Het
Sirpb1b	A	C	3: 15,548,669	C51G	probably damaging	Het
Snx13	C	T	12: 35,100,644	Q316*	probably null	Het
Spesp1	A	G	9: 62,282,049	V5A	possibly damaging	Het
Sprr2e	G	A	3: 92,353,063	C67Y	unknown	Het
Tcaf3	G	A	6: 42,596,763	P172S	probably damaging	Het
Tmem126b	A	G	7: 90,470,947	I72T	probably benign	Het
Tmem17	G	T	11: 22,518,624	V188L	probably benign	Het
Tnfrsf1b	T	C	4: 145,229,108		probably null	Het
Tshz2	A	T	2: 169,884,024	Q180L	probably damaging	Het
Ttc41	A	T	10: 86,776,630	I1256F	probably damaging	Het
Wdr17	C	T	8: 54,681,399	G349R	probably damaging	Het
Ywhag	G	T	5: 135,911,265	H158Q	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
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'- AAGTCTGATGCCTCCTCAGACC -3'
(R):5'- AGGCAAGGACAACATCTTGTGC -3'

Sequencing Primer
(F):5'- TGGAGAGCTACCAGACCCAG -3'
(R):5'- GCATGGTAGAAGTCATTCGATCTCTC -3'

Posted On

2016-09-01