Mutagenetix > Incidental Mutation

Incidental Mutation 'R5137:Uhrf1bp1'

396243

Institutional Source

Beutler Lab

Gene Symbol

Uhrf1bp1

Ensembl Gene

ENSMUSG00000039512

Gene Name

UHRF1 (ICBP90) binding protein 1

Synonyms

1110020K19Rik, F830021D11Rik

MMRRC Submission

042723-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27856490-27900040 bp(+) (GRCm38)

Type of Mutation

splice site (28 bp from exon)

DNA Base Change (assembly)

T to G at 27876990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

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

AlphaFold

B2KF50

Predicted Effect

probably null
Transcript: ENSMUST00000114849

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512

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: ENSMUST00000130810

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,069,771	V75A	probably benign	Het
Ace	G	C	11: 105,974,826	W628C	probably damaging	Het
Adh4	T	C	3: 138,422,235	S141P	probably benign	Het
Apob	T	C	12: 8,011,384	Y3256H	possibly damaging	Het
B3galnt1	G	T	3: 69,574,949	N326K	probably benign	Het
Catsperb	T	C	12: 101,549,811	F569L	probably damaging	Het
Cecr2	A	G	6: 120,755,517	I225V	probably benign	Het
Cox5b	A	G	1: 36,692,429		probably null	Het
Crybg1	T	C	10: 43,958,336	D1953G	probably damaging	Het
Dnaaf5	C	T	5: 139,181,460	T707M	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Ebf1	G	A	11: 44,991,468	R409Q	probably damaging	Het
Eef2k	G	A	7: 120,885,422	A256T	probably damaging	Het
Eef2k	C	A	7: 120,885,423	A256D	probably damaging	Het
Evl	C	G	12: 108,681,522	T294S	probably benign	Het
Eya2	T	C	2: 165,731,628	Y288H	probably damaging	Het
Ezh2	A	T	6: 47,532,080		probably null	Het
Fam171a1	T	C	2: 3,225,389	Y395H	probably benign	Het
Gas2l3	C	A	10: 89,413,975	R427L	probably damaging	Het
Gli2	T	A	1: 118,855,503	I91F	probably damaging	Het
Gm4884	T	C	7: 41,042,894	S96P	probably damaging	Het
Gprc5d	T	A	6: 135,116,033	D292V	probably benign	Het
Herc1	A	G	9: 66,448,223	K2252R	probably benign	Het
Il1rl1	A	T	1: 40,450,125	M346L	probably benign	Het
Kcna5	A	T	6: 126,533,983	V394D	probably damaging	Het
Kcng4	A	T	8: 119,625,878	M431K	possibly damaging	Het
Kif1bp	A	T	10: 62,578,241	V46E	probably damaging	Het
Large1	A	G	8: 73,048,309	F258L	possibly damaging	Het
Mapkbp1	T	A	2: 120,022,181	C1001S	probably damaging	Het
Micu1	A	G	10: 59,827,232	Q328R	probably benign	Het
Mmp11	G	A	10: 75,925,456	P437S	probably damaging	Het
Msh6	T	A	17: 87,980,288	F119I	possibly damaging	Het
Myo6	A	G	9: 80,242,249	E159G	probably damaging	Het
Negr1	T	A	3: 157,016,196	Y136N	probably damaging	Het
Nol9	T	A	4: 152,045,971	C321S	probably damaging	Het
Nos1	T	C	5: 117,905,313	F551S	probably benign	Het
Nup153	C	A	13: 46,684,153	G1198C	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1225	C	A	2: 89,170,400	V271F	probably benign	Het
Olfr395	T	C	11: 73,906,626	I289V	probably damaging	Het
Olfr606	A	G	7: 103,451,712	Y125C	probably damaging	Het
Olfr606	C	A	7: 103,451,713	Y125*	probably null	Het
Omd	T	C	13: 49,590,076	S201P	probably benign	Het
Oxct1	G	T	15: 4,035,350	A57S	probably benign	Het
Pcdhga7	T	G	18: 37,717,380	S813R	probably damaging	Het
Pcmtd2	A	T	2: 181,854,994	I255F	possibly damaging	Het
Pdk1	T	G	2: 71,883,569	M186R	possibly damaging	Het
Pelp1	T	C	11: 70,395,099	T648A	probably damaging	Het
Phldb2	A	T	16: 45,808,258	S570R	possibly damaging	Het
Pramef25	T	A	4: 143,949,120	T379S	probably benign	Het
Ptprj	T	C	2: 90,469,648	T270A	possibly damaging	Het
Reln	C	T	5: 21,955,181	G2130D	probably damaging	Het
Rims1	A	T	1: 22,288,620	Y663*	probably null	Het
Rit2	T	C	18: 31,153,764	T123A	probably benign	Het
Rmdn2	A	T	17: 79,667,989	E302D	probably benign	Het
Ryr1	T	C	7: 29,101,858	E827G	possibly damaging	Het
Siglec1	C	T	2: 131,081,344	G494R	probably damaging	Het
Slc16a14	T	A	1: 84,912,597	Y329F	probably damaging	Het
Slc35d1	A	T	4: 103,214,781	L8Q	possibly damaging	Het
Smpdl3a	C	T	10: 57,801,067	S57L	possibly damaging	Het
Snx9	T	C	17: 5,928,253	V566A	probably damaging	Het
Spaca1	A	T	4: 34,029,095	I126N	probably damaging	Het
Spred1	T	G	2: 117,163,571	I94S	probably damaging	Het
Tardbp	T	C	4: 148,622,037	D105G	possibly damaging	Het
Tet2	T	C	3: 133,476,565	S1213G	probably benign	Het
Trak1	A	T	9: 121,367,055		probably benign	Het
Trem3	G	A	17: 48,249,728	V76M	possibly damaging	Het
Ttc13	G	T	8: 124,694,935	Y250*	probably null	Het
Ttll5	T	G	12: 85,923,045	S714R	possibly damaging	Het
Ube2l6	T	G	2: 84,802,876		probably null	Het
Ubr3	T	C	2: 69,973,335	S1090P	probably damaging	Het
Vezt	T	C	10: 93,970,510	T680A	probably benign	Het
Virma	A	G	4: 11,546,297	K1762E	probably damaging	Het
Vps53	A	G	11: 76,166,248	S57P	probably damaging	Het
Vwa7	G	T	17: 35,017,846	D130Y	probably damaging	Het
Vwa8	T	G	14: 79,064,902	F1004V	probably damaging	Het
Zfp35	A	T	18: 24,004,137	K513*	probably null	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,036,509		probably benign	Het
Zfp521	C	A	18: 13,845,448	C636F	probably 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
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'- ACTAGGGTCTACTGCAATCGG -3'
(R):5'- CCCAAGGGAATTTAAGAATGGTGC -3'

Sequencing Primer
(F):5'- GTCTACTGCAATCGGGCCTC -3'
(R):5'- GGAATTTAAGAATGGTGCTTGAGC -3'

Posted On

2016-06-21