Mutagenetix > Incidental Mutation

Incidental Mutation 'R4657:Uhrf1bp1'

352560

Institutional Source

Beutler Lab

Gene Symbol

Uhrf1bp1

Ensembl Gene

ENSMUSG00000039512

Gene Name

UHRF1 (ICBP90) binding protein 1

Synonyms

1110020K19Rik, F830021D11Rik

MMRRC Submission

041917-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4657 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27856490-27900040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27890105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1099 (F1099L)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

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

AlphaFold

B2KF50

Predicted Effect

probably benign
Transcript: ENSMUST00000114849
AA Change: F1099L

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: F1099L

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

0.0852

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (105/107)

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 120,013,478	V264E	possibly damaging	Het
Abcg1	T	A	17: 31,108,434	W368R	probably benign	Het
Acin1	A	G	14: 54,643,047	I476T	possibly damaging	Het
Acsm1	T	A	7: 119,640,694	I287N	possibly damaging	Het
Adgrv1	C	T	13: 81,405,364	V5464I	probably benign	Het
AI429214	T	A	8: 36,994,391	L231Q	probably damaging	Het
Akp3	A	G	1: 87,125,834		probably benign	Het
Amy2b	C	T	3: 113,153,477		noncoding transcript	Het
Apoa5	A	G	9: 46,269,872	Q82R	probably benign	Het
Arhgap44	A	G	11: 65,005,452		probably null	Het
Arhgef38	C	A	3: 133,234,681	G48V	probably damaging	Het
Bod1l	G	T	5: 41,818,612	N1786K	probably benign	Het
Cav2	A	T	6: 17,281,410	D17V	probably null	Het
Ccdc148	G	T	2: 59,001,888	N238K	probably benign	Het
Ccin	A	T	4: 43,984,981	I463F	probably damaging	Het
Cd8b1	C	T	6: 71,329,774	H162Y	possibly damaging	Het
Cdh16	T	A	8: 104,615,226		probably null	Het
Cfap65	T	A	1: 74,925,354		probably benign	Het
Clec4n	T	C	6: 123,232,196		probably null	Het
Cpne7	T	A	8: 123,134,575	*558R	probably null	Het
Cs	A	G	10: 128,353,137	I172V	probably benign	Het
Cyp2ab1	A	T	16: 20,313,072	L306Q	probably damaging	Het
D16Ertd472e	A	T	16: 78,547,926	V98E	probably damaging	Het
Dcaf15	A	C	8: 84,102,838	S92A	probably damaging	Het
Dkk3	T	C	7: 112,149,046		probably null	Het
Dnah11	A	T	12: 118,192,427	C163S	probably benign	Het
Eda2r	T	A	X: 97,341,633	Q171L	probably damaging	Het
Eml4	A	T	17: 83,450,948	K397*	probably null	Het
Eml6	A	T	11: 29,805,108	I889N	possibly damaging	Het
Etaa1	A	T	11: 17,946,964	D384E	possibly damaging	Het
Fzr1	T	A	10: 81,367,552		probably null	Het
Gm13889	G	T	2: 93,956,576	F61L	probably damaging	Het
Gm14149	A	T	2: 151,230,764		noncoding transcript	Het
Gm5828	T	A	1: 16,769,418		noncoding transcript	Het
Gm5866	G	A	5: 52,582,920		noncoding transcript	Het
Gp2	T	C	7: 119,457,168	I27M	probably benign	Het
Gpr83	G	A	9: 14,866,983		probably null	Het
Gucd1	T	C	10: 75,511,125	N97S	probably benign	Het
H2-Q7	T	A	17: 35,442,759	V326E	possibly damaging	Het
Haao	A	T	17: 83,832,345	D227E	possibly damaging	Het
Hipk3	C	T	2: 104,433,759	S819N	probably benign	Het
Hist3h2ba	C	T	11: 58,948,971	P11L	probably benign	Het
Hlcs	A	G	16: 94,262,698	V501A	probably benign	Het
Hmcn1	A	G	1: 150,624,550	Y3964H	probably damaging	Het
Ifi204	C	A	1: 173,760,361		probably benign	Het
Ifi211	A	G	1: 173,907,660	F68L	probably benign	Het
Ift57	A	G	16: 49,762,594		probably null	Het
Ighv5-12-4	A	T	12: 113,762,267	L112*	probably null	Het
Il1f6	T	A	2: 24,224,404	M97K	possibly damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,327,310		probably benign	Het
Itsn2	A	G	12: 4,713,197	*1686W	probably null	Het
Jkamp	G	T	12: 72,094,049	V123F	probably damaging	Het
Kat7	C	A	11: 95,277,598	V411L	probably damaging	Het
Kcnj5	A	G	9: 32,322,677	V114A	probably benign	Het
Krtap5-4	T	A	7: 142,303,754	C54S	unknown	Het
Lats1	T	A	10: 7,705,684	N744K	possibly damaging	Het
Lpo	T	C	11: 87,814,347	E387G	probably damaging	Het
Lrba	T	G	3: 86,737,164	M388R	probably damaging	Het
Lrp2	C	A	2: 69,466,993	R3208L	probably damaging	Het
Mterf1b	T	A	5: 4,197,176	C272*	probably null	Het
Mum1	T	A	10: 80,233,014	C331S	probably benign	Het
Myh15	A	T	16: 49,172,058	R1632*	probably null	Het
Myo3b	T	C	2: 70,238,899	V494A	possibly damaging	Het
Myo9a	T	C	9: 59,875,416		probably null	Het
Nelfa	T	G	5: 33,901,813	S233R	probably benign	Het
Nr4a3	A	T	4: 48,051,522	E121V	probably damaging	Het
Obscn	T	A	11: 59,042,290	E5406D	probably damaging	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr347	T	A	2: 36,734,403	Y27*	probably null	Het
Olfr873	A	C	9: 20,300,623	H142P	probably damaging	Het
Oxct2b	T	C	4: 123,117,133	L282P	probably damaging	Het
Pappa	G	A	4: 65,314,796		probably null	Het
Pcdhb14	A	G	18: 37,448,847	I335M	possibly damaging	Het
Pcsk1	T	A	13: 75,132,235	D726E	probably damaging	Het
Pkhd1	T	A	1: 20,364,167	Q2349L	possibly damaging	Het
Pkhd1l1	G	A	15: 44,547,347	C2750Y	probably damaging	Het
Ppp2r3d	A	G	9: 124,476,821	C26R	unknown	Het
Prex2	T	A	1: 11,065,825	I74N	probably benign	Het
Ptgir	A	G	7: 16,907,146	D121G	probably benign	Het
Ralbp1	T	C	17: 65,852,691	S526G	probably null	Het
Ric8b	T	C	10: 84,992,137	Y442H	probably damaging	Het
Rpap1	C	T	2: 119,775,006	D385N	probably benign	Het
Sash1	T	C	10: 8,725,660	Y1177C	probably damaging	Het
Shroom1	T	C	11: 53,465,588	I363T	possibly damaging	Het
Slc26a9	T	C	1: 131,753,138	L95P	probably damaging	Het
Slc44a5	A	G	3: 154,256,584	T385A	possibly damaging	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Slc7a1	T	A	5: 148,352,399	M13L	probably benign	Het
Snrpb2	A	G	2: 143,070,973	N172S	possibly damaging	Het
Spns1	G	T	7: 126,374,302		probably benign	Het
Srsf6	T	A	2: 162,933,427	S86R	probably benign	Het
Stk25	A	T	1: 93,625,656		probably benign	Het
Szt2	A	T	4: 118,397,669	C275S	probably benign	Het
Tcp10b	T	A	17: 13,073,617		probably null	Het
Tmem248	T	A	5: 130,231,774	L60H	probably damaging	Het
Trim27	T	C	13: 21,183,760	I182T	probably damaging	Het
Tspan10	A	G	11: 120,444,498	N145D	probably damaging	Het
Vps13d	A	G	4: 145,074,842	F487S	probably damaging	Het
Wdr86	A	T	5: 24,718,231	D154E	probably benign	Het
Wfdc18	C	A	11: 83,709,869	A32D	possibly damaging	Het
Wrn	A	T	8: 33,335,991		probably null	Het
Zfp811	C	A	17: 32,800,923	E7*	probably null	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
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'- ACCTGTCAGAACTGGGGAAG -3'
(R):5'- CCTAGGAAATTTAGAGATCAGGCC -3'

Sequencing Primer
(F):5'- GCGGATCAGCCTGAGGATG -3'
(R):5'- GATCAGGCCATAAGAACAAATGTAC -3'

Posted On

2015-10-08