Mutagenetix > Incidental Mutation

Incidental Mutation 'R9514:Uhrf1bp1'

718416

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 #

R9514 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27856490-27900040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27893440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1201 (D1201G)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

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

AlphaFold

B2KF50

Predicted Effect

probably damaging
Transcript: ENSMUST00000114849
AA Change: D1201G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: D1201G

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: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,742,992	V338A	probably damaging	Het
1810065E05Rik	T	C	11: 58,421,707	S4P	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Acsl6	A	G	11: 54,335,054	N307D	probably benign	Het
Atxn1	A	G	13: 45,567,957	V154A	probably benign	Het
Cacna2d4	T	C	6: 119,236,650	L10S	probably benign	Het
Cd33	A	T	7: 43,532,726	H98Q	probably benign	Het
Cebpz	A	T	17: 78,932,255	M579K	probably benign	Het
Cenpk	T	G	13: 104,234,174	C103G	probably benign	Het
Cep97	T	A	16: 55,905,730	Q670L	probably benign	Het
Cfap65	C	T	1: 74,906,309		probably null	Het
Cir1	A	G	2: 73,312,437	S18P	probably damaging	Het
Coprs	T	C	8: 13,885,081	Y158C	probably damaging	Het
Creld1	T	C	6: 113,492,804	F389S	probably damaging	Het
Dimt1	T	C	13: 106,957,128	I276T	possibly damaging	Het
Dok1	T	C	6: 83,032,991	K46E	probably damaging	Het
Dsp	T	A	13: 38,187,805	C911S	probably benign	Het
Egr3	A	G	14: 70,077,529	I29V	probably benign	Het
Fam186a	A	G	15: 99,946,885	S493P	unknown	Het
Fam83a	G	A	15: 57,986,369	G103D	possibly damaging	Het
Fat2	T	A	11: 55,284,982	Q1635L	probably damaging	Het
Figla	A	C	6: 86,020,707	H139P	probably benign	Het
Fryl	T	C	5: 73,104,772	K551E	probably damaging	Het
Galr2	A	G	11: 116,283,626	T361A	probably benign	Het
Gart	A	T	16: 91,630,708	S467R	probably benign	Het
Ggps1	T	C	13: 14,055,157	K45R	probably benign	Het
Ghsr	G	C	3: 27,372,481	V229L	possibly damaging	Het
Hectd2	A	T	19: 36,605,289	H473L	possibly damaging	Het
Hic2	T	C	16: 17,258,429	V374A	possibly damaging	Het
Hist2h2ab	A	G	3: 96,220,085	E57G	probably damaging	Het
Hivep2	T	A	10: 14,129,779	I707N	probably benign	Het
Il17rc	T	C	6: 113,472,780	S116P	probably damaging	Het
Krt34	A	T	11: 100,038,400	I328N	probably damaging	Het
Krt79	G	A	15: 101,931,853	R303C	probably damaging	Het
Lama2	T	C	10: 27,224,019	E830G	probably benign	Het
Lamb2	C	T	9: 108,480,807	T149I	probably damaging	Het
Mau2	T	C	8: 70,027,503	Y318C	probably damaging	Het
Mier2	T	C	10: 79,541,662	S486G	probably benign	Het
Mllt10	A	G	2: 18,159,511	D284G	probably damaging	Het
Nbea	A	T	3: 56,029,945	S748R	probably damaging	Het
Ncoa6	A	G	2: 155,406,213	S1724P	probably benign	Het
Nipal4	T	A	11: 46,162,095		probably null	Het
Nlrc4	G	C	17: 74,446,741	L216V	probably benign	Het
Ogfr	A	G	2: 180,593,624	M164V	possibly damaging	Het
Olfr1271	G	A	2: 90,266,365	Q22*	probably null	Het
Olfr99	G	T	17: 37,280,495		probably benign	Het
Pcdha12	G	T	18: 37,022,473	W748C	probably damaging	Het
Pkd1l3	T	C	8: 109,669,217	V2083A	probably damaging	Het
Plin3	C	A	17: 56,280,824	G297V	probably benign	Het
Prex1	C	T	2: 166,577,976	R1260Q	possibly damaging	Het
Prpf38b	A	G	3: 108,911,303	V47A	probably benign	Het
Ptch1	T	C	13: 63,527,257	T851A	probably benign	Het
Ptk7	T	A	17: 46,576,818	I563F	possibly damaging	Het
Ptprm	A	G	17: 66,809,471	Y938H	probably damaging	Het
R3hcc1l	G	A	19: 42,518,764		probably benign	Het
Rapgef6	T	C	11: 54,552,858	V89A	probably benign	Het
Sh2b1	AGCTCAGCCACGGGGACC	AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC	7: 126,467,578		probably benign	Het
Sh2b1	ACCAGCTC	ACCAGCTCAGCCACGGGGGCCAGCTC	7: 126,467,593		probably benign	Het
Sh2b1	CTC	CTCCGCCACGGGGACCAGTTC	7: 126,467,598		probably benign	Het
Slain1	T	A	14: 103,695,312	V444E	probably damaging	Het
Slc10a5	T	A	3: 10,335,472	I43F	possibly damaging	Het
Smarca2	T	C	19: 26,682,052	F914S	possibly damaging	Het
Smarca5	A	C	8: 80,702,211	L1003V	probably damaging	Het
Spata18	A	T	5: 73,672,497	I332F		Het
Stard9	C	G	2: 120,704,083	P3607R	probably damaging	Het
Tbx19	A	G	1: 165,138,977	S443P	unknown	Het
Tktl2	C	G	8: 66,513,188	A466G	probably damaging	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,657,778	V17A	probably benign	Het
Tom1l2	T	C	11: 60,262,660	T164A	probably damaging	Het
Tor1aip1	T	A	1: 156,030,431	D205V	probably damaging	Het
Tpp2	T	A	1: 43,978,488	S751T	probably benign	Het
Trim11	G	T	11: 58,987,651	A251S	unknown	Het
Trim33	T	C	3: 103,331,758	V684A	probably benign	Het
Triobp	C	T	15: 78,993,178	R1637C	probably damaging	Het
Trpm3	A	G	19: 22,982,676	N1225S	probably benign	Het
Usp21	T	C	1: 171,284,930	Y300C	probably damaging	Het
Usp32	T	C	11: 85,022,734	T924A	probably damaging	Het
Vmn1r198	A	T	13: 22,354,845	H167L	possibly damaging	Het
Vmn2r23	A	G	6: 123,712,713	T183A	probably benign	Het
Zc3h8	T	C	2: 128,931,303	Y213C	probably damaging	Het
Zcchc17	A	T	4: 130,338,544	D55E	probably benign	Het
Zfp408	A	T	2: 91,648,023	W26R	probably damaging	Het
Zfp937	G	T	2: 150,238,970	A307S	possibly 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
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
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

Posted On

2022-07-18