Mutagenetix > Incidental Mutation

Incidental Mutation 'R0964:Uhrf1bp1'

81596

Institutional Source

Beutler Lab

Gene Symbol

Uhrf1bp1

Ensembl Gene

ENSMUSG00000039512

Gene Name

UHRF1 (ICBP90) binding protein 1

Synonyms

1110020K19Rik, F830021D11Rik

MMRRC Submission

039093-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27856490-27900040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27887178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 893 (T893S)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

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

AlphaFold

B2KF50

Predicted Effect

probably damaging
Transcript: ENSMUST00000114849
AA Change: T893S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: T893S

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

0.0650

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 96.9%
20x: 94.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
Acacb	A	T	5: 114,229,752	M1604L	possibly damaging	Het
Acpp	A	G	9: 104,326,975	V40A	possibly damaging	Het
Adgrl1	T	C	8: 83,934,412		probably benign	Het
Alppl2	C	T	1: 87,087,724	V372I	possibly damaging	Het
Apol8	C	T	15: 77,749,611	S255N	probably benign	Het
Atp8b4	A	T	2: 126,337,493	F973I	probably damaging	Het
Bbs4	A	G	9: 59,322,976	*150Q	probably null	Het
Cacna1h	A	T	17: 25,378,775		probably benign	Het
Ccser2	C	T	14: 36,909,008		probably benign	Het
Chd9	A	G	8: 91,015,204	E1607G	probably benign	Het
Clca4b	A	G	3: 144,915,576	I579T	probably benign	Het
Col20a1	T	A	2: 180,984,485		probably benign	Het
Creg2	T	C	1: 39,624,976	I205V	probably benign	Het
Cyr61	C	A	3: 145,647,748	C353F	probably damaging	Het
Ddx24	C	T	12: 103,423,907	R275H	probably damaging	Het
Dip2c	G	A	13: 9,568,663	A579T	probably benign	Het
Dnah3	T	C	7: 119,952,739		probably benign	Het
Dnah8	G	A	17: 30,673,920		probably null	Het
Gckr	T	C	5: 31,326,915		probably benign	Het
Gpbp1l1	A	G	4: 116,581,239		probably benign	Het
Hmcn2	A	G	2: 31,391,511	T1913A	probably benign	Het
Lmo7	T	C	14: 101,920,567		probably benign	Het
Meioc	G	A	11: 102,680,031	V863I	probably damaging	Het
Myh1	A	G	11: 67,205,925	I341V	probably benign	Het
Myh1	A	G	11: 67,221,604	D1799G	probably damaging	Het
Myh13	A	G	11: 67,345,002	T664A	probably benign	Het
Myo3b	A	C	2: 70,426,849	D1269A	probably damaging	Het
Nckap1	A	G	2: 80,547,899		probably null	Het
Nr3c2	A	G	8: 76,908,668		probably null	Het
Nxpe5	T	C	5: 138,239,924	S249P	probably damaging	Het
Olfr1008	A	G	2: 85,690,365	N312S	probably benign	Het
Olfr460	T	C	6: 40,572,205	V273A	probably benign	Het
Olfr67	C	T	7: 103,787,397	M293I	probably benign	Het
Pitpnm3	G	A	11: 72,058,470	T675I	probably damaging	Het
Plekhm1	C	A	11: 103,395,082	E176*	probably null	Het
Prdm11	C	A	2: 92,989,222		probably benign	Het
Prodh2	C	A	7: 30,506,281	R218S	probably damaging	Het
Rps15a	T	C	7: 118,114,837	D54G	probably benign	Het
Sbno2	G	T	10: 80,084,259	T46N	possibly damaging	Het
Sdk2	A	G	11: 113,806,417		probably benign	Het
Sema3c	T	C	5: 17,721,909	F567L	probably damaging	Het
Slc36a1	A	G	11: 55,225,954		probably benign	Het
Spaca6	A	T	17: 17,838,391	E284V	possibly damaging	Het
Srsf3	C	A	17: 29,036,438	L66I	probably damaging	Het
Srsf3	T	A	17: 29,036,439	L66Q	probably damaging	Het
Syne1	T	C	10: 5,043,652	T8363A	possibly damaging	Het
Trmt1	T	A	8: 84,696,852	L298Q	probably damaging	Het
Uba6	T	C	5: 86,119,401	I923V	possibly damaging	Het
Vmn2r106	G	A	17: 20,267,597	H847Y	probably benign	Het
Vmn2r15	T	C	5: 109,297,535	T8A	probably benign	Het
Zbtb39	C	G	10: 127,742,306	Q250E	probably benign	Het
Zbtb41	T	G	1: 139,439,031	F583V	probably damaging	Het
Zfp938	T	A	10: 82,225,419	I456F	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
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
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'- GCTGACATTCACATGCTTGTCCAC -3'
(R):5'- TAGCTTCTTGGCCTGGAGAGACTC -3'

Sequencing Primer
(F):5'- CATGTCAGAGTGAGGCTCGAC -3'
(R):5'- AGAGACTCGACCGCCTC -3'

Posted On

2013-11-08