Mutagenetix > Incidental Mutation

Incidental Mutation 'R4469:Ubp1'

329327

Institutional Source

Beutler Lab

Gene Symbol

Ubp1

Ensembl Gene

ENSMUSG00000009741

Gene Name

upstream binding protein 1

Synonyms

LBP-1b, NF2d9, LBP-1a

MMRRC Submission

041726-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4469 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113760002-113806270 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113787775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 222 (T222I)

Ref Sequence

ENSEMBL: ENSMUSP00000150023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009885] [ENSMUST00000084885] [ENSMUST00000116492] [ENSMUST00000117537] [ENSMUST00000214095] [ENSMUST00000216558]

AlphaFold

Q811S7

Predicted Effect

probably benign
Transcript: ENSMUST00000009885
AA Change: T222I

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000009885
Gene: ENSMUSG00000009741
AA Change: T222I

Domain	Start	End	E-Value	Type
Pfam:CP2	37	259	1.6e-76	PFAM
SCOP:d1kw4a_	333	381	5e-3	SMART
low complexity region	409	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084885
AA Change: T222I

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000081946
Gene: ENSMUSG00000009741
AA Change: T222I

Domain	Start	End	E-Value	Type
Pfam:CP2	42	257	3e-62	PFAM
SCOP:d1kw4a_	369	417	6e-3	SMART
low complexity region	445	463	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116492
AA Change: T222I

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112192
Gene: ENSMUSG00000009741
AA Change: T222I

Domain	Start	End	E-Value	Type
Pfam:CP2	37	259	1.6e-76	PFAM
SCOP:d1kw4a_	333	381	5e-3	SMART
low complexity region	409	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117537

SMART Domains

Protein: ENSMUSP00000114075
Gene: ENSMUSG00000032507

Domain	Start	End	E-Value	Type
FBOX	15	55	1.18e-6	SMART
LRR	77	102	1.16e-1	SMART
LRR	103	128	5.21e-4	SMART
LRR	129	154	2.24e-3	SMART
LRR_CC	155	180	5.46e-7	SMART
LRR	181	206	7.05e-1	SMART
LRR	207	232	4.87e-4	SMART
LRR	233	258	1.5e-4	SMART
LRR	259	284	8.81e-2	SMART
LRR	285	310	2.05e-2	SMART
LRR_CC	311	336	6.37e-8	SMART
LRR	365	391	2.44e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000214095
AA Change: T222I

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216558
AA Change: T222I

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216891

Meta Mutation Damage Score

0.0905

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (52/52)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene die during gestation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,345 (GRCm39)	K196E	probably damaging	Het
Ackr1	T	C	1: 173,160,112 (GRCm39)		probably null	Het
Adgra1	C	T	7: 139,455,977 (GRCm39)	T535I	probably damaging	Het
Ankrd11	A	G	8: 123,623,326 (GRCm39)	Y310H	probably damaging	Het
Arhgef5	T	C	6: 43,252,033 (GRCm39)	I928T	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asb4	C	A	6: 5,423,409 (GRCm39)	F185L	probably benign	Het
Ces2g	A	T	8: 105,692,602 (GRCm39)	I301F	probably benign	Het
Chd1	T	C	17: 15,980,657 (GRCm39)	I1308T	probably damaging	Het
Cntnap4	A	T	8: 113,391,898 (GRCm39)	N121I	probably damaging	Het
Csf1	C	T	3: 107,657,997 (GRCm39)		probably null	Het
Dnah7a	T	A	1: 53,483,685 (GRCm39)	H3364L	probably benign	Het
Dnmt3c	A	G	2: 153,562,280 (GRCm39)	T555A	possibly damaging	Het
Dst	A	G	1: 34,230,923 (GRCm39)	T3017A	probably benign	Het
Efcab7	A	G	4: 99,766,901 (GRCm39)	D482G	possibly damaging	Het
Fbxl5	A	G	5: 43,925,528 (GRCm39)	V154A	probably damaging	Het
Flt3	T	C	5: 147,312,454 (GRCm39)		silent	Het
G6pd2	A	T	5: 61,966,288 (GRCm39)	Y21F	probably benign	Het
Gm9376	C	T	14: 118,505,011 (GRCm39)	P148S	probably damaging	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Gtpbp2	A	G	17: 46,472,239 (GRCm39)	Y58C	probably damaging	Het
Hcrtr2	T	A	9: 76,137,838 (GRCm39)	T426S	probably benign	Het
Herc3	T	A	6: 58,853,794 (GRCm39)	Y613*	probably null	Het
Hsd17b1	A	T	11: 100,970,838 (GRCm39)	M265L	probably benign	Het
Ier3ip1	A	G	18: 77,028,294 (GRCm39)		probably benign	Het
Kif11	A	G	19: 37,404,940 (GRCm39)	M924V	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lancl2	T	A	6: 57,690,019 (GRCm39)	L75H	probably damaging	Het
Mfsd4b1	T	C	10: 39,888,091 (GRCm39)		probably benign	Het
Nlrc5	A	T	8: 95,247,467 (GRCm39)	I1588F	probably damaging	Het
Nostrin	C	G	2: 69,006,061 (GRCm39)	I248M	probably damaging	Het
Or12d14-ps1	A	G	17: 37,673,528 (GRCm39)	I170M	possibly damaging	Het
Or14j1	T	C	17: 38,146,607 (GRCm39)	L239P	probably benign	Het
Qng1	A	G	13: 58,530,239 (GRCm39)	L257P	probably damaging	Het
Rabggta	A	G	14: 55,953,944 (GRCm39)	V266A	probably benign	Het
Ror2	G	A	13: 53,286,016 (GRCm39)	T66M	possibly damaging	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Skp1	C	T	11: 52,135,905 (GRCm39)	T138I	probably benign	Het
Smad9	T	C	3: 54,690,182 (GRCm39)	V134A	probably damaging	Het
Snx29	T	A	16: 11,238,565 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,761,240 (GRCm39)	I152T	probably damaging	Het
Ssbp2	G	A	13: 91,842,175 (GRCm39)	G302D	probably damaging	Het
Stom	T	C	2: 35,211,545 (GRCm39)	N159D	possibly damaging	Het
Trav16d-dv11	A	G	14: 53,285,035 (GRCm39)	K37R	probably benign	Het
Trim75	A	G	8: 65,436,369 (GRCm39)	V27A	probably damaging	Het
Ttn	T	C	2: 76,548,105 (GRCm39)	T32066A	probably damaging	Het
Txndc11	T	C	16: 10,893,087 (GRCm39)	H881R	probably benign	Het
Unc5cl	C	G	17: 48,766,833 (GRCm39)	P69R	possibly damaging	Het
Zfp616	T	A	11: 73,961,950 (GRCm39)	C24S	probably damaging	Het

Other mutations in Ubp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01941:Ubp1	APN	9	113,785,826 (GRCm39)	missense	probably damaging	1.00
IGL01951:Ubp1	APN	9	113,780,686 (GRCm39)	nonsense	probably null
R0097:Ubp1	UTSW	9	113,802,575 (GRCm39)	splice site	probably benign
R0097:Ubp1	UTSW	9	113,802,575 (GRCm39)	splice site	probably benign
R0241:Ubp1	UTSW	9	113,795,655 (GRCm39)	critical splice donor site	probably null
R0669:Ubp1	UTSW	9	113,793,736 (GRCm39)	splice site	probably benign
R0709:Ubp1	UTSW	9	113,773,999 (GRCm39)	missense	probably damaging	1.00
R1416:Ubp1	UTSW	9	113,799,239 (GRCm39)	missense	probably benign	0.02
R1466:Ubp1	UTSW	9	113,773,903 (GRCm39)	splice site	probably benign
R1753:Ubp1	UTSW	9	113,785,037 (GRCm39)	missense	possibly damaging	0.74
R1780:Ubp1	UTSW	9	113,793,647 (GRCm39)	missense	possibly damaging	0.84
R2235:Ubp1	UTSW	9	113,793,712 (GRCm39)	missense	probably damaging	1.00
R3418:Ubp1	UTSW	9	113,780,754 (GRCm39)	critical splice donor site	probably null
R3978:Ubp1	UTSW	9	113,785,773 (GRCm39)	critical splice acceptor site	probably null
R4024:Ubp1	UTSW	9	113,773,951 (GRCm39)	missense	probably benign	0.03
R4797:Ubp1	UTSW	9	113,785,070 (GRCm39)	missense	probably damaging	1.00
R4984:Ubp1	UTSW	9	113,788,460 (GRCm39)	missense	probably damaging	0.97
R5914:Ubp1	UTSW	9	113,785,807 (GRCm39)	missense	probably benign	0.00
R6971:Ubp1	UTSW	9	113,801,831 (GRCm39)	missense	probably damaging	0.97
R7718:Ubp1	UTSW	9	113,802,597 (GRCm39)	missense	possibly damaging	0.69
R8129:Ubp1	UTSW	9	113,804,417 (GRCm39)	missense	possibly damaging	0.92
R8772:Ubp1	UTSW	9	113,801,897 (GRCm39)	missense	probably benign	0.23
R9106:Ubp1	UTSW	9	113,799,319 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGGGTCTTCATTGTACATCC -3'
(R):5'- AGGCTGCTCTGCATTACCTC -3'

Sequencing Primer
(F):5'- TCTTCATTGTACATCCATGAGGG -3'
(R):5'- CTCTGCATTACCTCTGTGAGAATGG -3'

Posted On

2015-07-21