Mutagenetix > Incidental Mutation

Incidental Mutation 'R9621:Uhrf1bp1'

724831

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 #

R9621 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27856490-27900040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27886779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 760 (S760T)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

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

AlphaFold

B2KF50

Predicted Effect

probably benign
Transcript: ENSMUST00000114849
AA Change: S760T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: S760T

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: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	C	A	12: 55,382,257	H538N	probably benign	Het
2410131K14Rik	C	T	5: 118,255,815	T86I	possibly damaging	Het
Abca1	T	C	4: 53,092,918	T289A	probably benign	Het
Adnp	A	T	2: 168,182,743	S877R	probably benign	Het
Akap13	T	A	7: 75,736,342	H555Q	probably benign	Het
Alg6	T	A	4: 99,726,894	Y38*	probably null	Het
Amtn	C	A	5: 88,380,346	Q93K	probably benign	Het
Ap2b1	T	C	11: 83,402,598	V937A	probably damaging	Het
Arih1	ATCGTCCGGCTCGTCCTCGTCGTCGTCC	ATCGTCC	9: 59,486,237		probably benign	Het
Bhmt	A	G	13: 93,621,571	S211P	possibly damaging	Het
Bmp1	T	C	14: 70,477,866	Y943C	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,100,036		probably null	Het
Cbfb	A	C	8: 105,178,611	T62P	probably damaging	Het
Ccdc154	T	C	17: 25,167,381	F249L	probably damaging	Het
Cdh26	T	A	2: 178,470,190	F514L	probably damaging	Het
Cdhr2	A	G	13: 54,718,537	E352G		Het
Cep295nl	G	A	11: 118,333,940	P26L	possibly damaging	Het
Cfdp1	A	G	8: 111,845,175	V34A	probably damaging	Het
Cntnap2	A	T	6: 46,988,792	I846F	probably damaging	Het
Cntrl	A	G	2: 35,160,266	K1464E	probably damaging	Het
Crybg3	T	C	16: 59,506,250	D1039G	possibly damaging	Het
Csmd3	A	T	15: 47,849,720	S778R		Het
Daam2	C	T	17: 49,473,304	C729Y	probably damaging	Het
Ddx18	T	C	1: 121,561,403	H305R	probably damaging	Het
Dio1	C	T	4: 107,292,361	C248Y	probably benign	Het
Dnah1	C	A	14: 31,294,815	A1582S	probably damaging	Het
Eef1a1	A	T	9: 78,479,350	D319E	probably benign	Het
Fam171b	G	A	2: 83,812,765	R6H	probably damaging	Het
Fam214a	A	G	9: 75,010,230	N711D	possibly damaging	Het
Flnb	G	A	14: 7,926,421	G1822R	probably damaging	Het
Gabrb1	G	A	5: 72,122,020	V303I	possibly damaging	Het
Gli3	T	G	13: 15,726,668	S1547A	probably benign	Het
Gm4884	A	T	7: 41,043,687	N360I	possibly damaging	Het
Gm9573	T	A	17: 35,621,828	T489S	unknown	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,327,310		probably benign	Het
Ino80	C	G	2: 119,450,015	K289N	probably damaging	Het
Itpr1	G	A	6: 108,416,909	E1638K	probably damaging	Het
Jakmip1	A	T	5: 37,117,468	I45F	unknown	Het
Kif1a	G	A	1: 93,055,723	P684L	probably benign	Het
Kpnb1	A	T	11: 97,167,634	S610T	probably benign	Het
Man1a2	A	G	3: 100,684,645	V73A	probably benign	Het
Mbtps1	A	G	8: 119,508,882	V1019A	possibly damaging	Het
Nup210	G	C	6: 91,017,393	N1774K	probably benign	Het
Olfr763	G	T	10: 129,011,890	V202F	probably benign	Het
Pik3c2b	T	C	1: 133,071,607	S398P	probably damaging	Het
Pmpca	A	G	2: 26,389,976	T37A	probably benign	Het
Ppfia1	A	G	7: 144,498,779	S840P	probably damaging	Het
Prkcq	A	T	2: 11,256,203	K355N	probably benign	Het
Ptprg	A	G	14: 12,237,809	K1422R	probably benign	Het
Ptprq	T	C	10: 107,542,662	E2006G	probably damaging	Het
Qsox1	TG	T	1: 155,795,389		probably null	Het
Rcor2	A	T	19: 7,274,226	T412S	probably benign	Het
Rnf224	A	T	2: 25,236,188	M51K	probably benign	Het
Robo4	A	G	9: 37,406,213	D521G	probably damaging	Het
Sf3b4	T	A	3: 96,176,799	S360T	unknown	Het
Sgo2b	T	C	8: 63,927,617	D727G	probably damaging	Het
Smpd2	C	A	10: 41,488,287	V172L	probably benign	Het
Syne1	C	T	10: 5,323,887	A1966T	probably benign	Het
Syt13	G	A	2: 92,915,230	G15D	possibly damaging	Het
Taf3	A	T	2: 9,918,259	L18Q	unknown	Het
Tcam1	T	A	11: 106,285,433	N328K	probably damaging	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tet2	A	T	3: 133,488,006	Y222*	probably null	Het
Timm29	A	T	9: 21,592,922		probably benign	Het
Tmc6	T	C	11: 117,779,169	D17G	probably benign	Het
Tmem30a	T	A	9: 79,780,644	D81V	probably benign	Het
Tnnt1	T	C	7: 4,508,502	I195V	probably benign	Het
Ttc30b	T	C	2: 75,937,800	Y203C	probably damaging	Het
Ttll5	T	A	12: 85,892,122	V398E	possibly damaging	Het
Ttn	T	C	2: 76,918,097	T4203A	possibly damaging	Het
Ubc	A	G	5: 125,387,447	I272T	probably damaging	Het
Unc45a	A	G	7: 80,334,037	L337P	probably damaging	Het
Vmn1r229	T	C	17: 20,815,053	F187L	probably benign	Het
Wrn	A	T	8: 33,324,273	M381K	probably benign	Het
Zdbf2	A	G	1: 63,303,476	N338S	possibly damaging	Het
Zfp541	A	G	7: 16,071,967	E9G	possibly damaging	Het
Zrsr1	G	A	11: 22,973,418	R64Q	possibly damaging	Het
Zswim8	T	A	14: 20,722,163	S1614T	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
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
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'- TCACCCAGATCTCCTTGGAC -3'
(R):5'- TCGAGCCTCACTCTGACATG -3'

Sequencing Primer
(F):5'- AGATCTCCTTGGACTTTGAAGGCAC -3'
(R):5'- TCACTCTGACATGGGCGGTG -3'

Posted On

2022-09-12