Mutagenetix > Incidental Mutation

Incidental Mutation 'R0559:Upk3bl'

45788

Institutional Source

Beutler Lab

Gene Symbol

Upk3bl

Ensembl Gene

ENSMUSG00000006143

Gene Name

uroplakin 3B-like

Synonyms

2310043J07Rik

MMRRC Submission

038751-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0559 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136083346-136093180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136086330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 89 (T89A)

Ref Sequence

ENSEMBL: ENSMUSP00000106767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006303] [ENSMUST00000111137] [ENSMUST00000122979]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006303
AA Change: T25A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000006303
Gene: ENSMUSG00000006143
AA Change: T25A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
SCOP:d1apxa_	42	116	1e-4	SMART
transmembrane domain	193	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111137
AA Change: T89A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106767
Gene: ENSMUSG00000006143
AA Change: T89A

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
SCOP:d1apxa_	106	180	2e-4	SMART
transmembrane domain	257	279	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122979

SMART Domains

Protein: ENSMUSP00000122206
Gene: ENSMUSG00000006143

Domain	Start	End	E-Value	Type
transmembrane domain	95	117	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139999

Predicted Effect

unknown
Transcript: ENSMUST00000156530
AA Change: T70A

SMART Domains

Protein: ENSMUSP00000123311
Gene: ENSMUSG00000006143
AA Change: T70A

Domain	Start	End	E-Value	Type
SCOP:d1apxa_	73	147	2e-4	SMART
transmembrane domain	224	246	N/A	INTRINSIC

Meta Mutation Damage Score

0.0646

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (34/35)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,748,535 (GRCm39)	I289F	probably benign	Het
Adam15	G	A	3: 89,251,085 (GRCm39)	A540V	probably damaging	Het
Adat1	T	C	8: 112,709,062 (GRCm39)	T254A	probably damaging	Het
Agtpbp1	A	G	13: 59,644,814 (GRCm39)	V684A	probably benign	Het
Ahi1	A	G	10: 20,876,618 (GRCm39)		probably benign	Het
Arl5b	T	C	2: 15,077,998 (GRCm39)	Y108H	probably damaging	Het
Cep85l	A	G	10: 53,224,597 (GRCm39)	F331L	probably benign	Het
Ctnna2	T	C	6: 76,892,833 (GRCm39)	K785E	probably damaging	Het
Dgkd	T	A	1: 87,842,826 (GRCm39)	I118N	probably damaging	Het
Dicer1	G	A	12: 104,672,560 (GRCm39)	R896W	probably damaging	Het
Eif1ad19	T	A	12: 87,740,223 (GRCm39)	H112L	probably benign	Het
Fbxl19	G	T	7: 127,349,390 (GRCm39)	W160L	possibly damaging	Het
H1f8	T	C	6: 115,924,760 (GRCm39)	Y89H	probably damaging	Het
Ipo5	T	C	14: 121,176,053 (GRCm39)	V626A	probably damaging	Het
Isx	A	G	8: 75,600,369 (GRCm39)	K34R	probably benign	Het
Myh6	T	C	14: 55,196,011 (GRCm39)	E596G	probably benign	Het
Olfml2a	T	C	2: 38,849,832 (GRCm39)	I516T	probably damaging	Het
Or14j5	C	T	17: 38,161,746 (GRCm39)	R88*	probably null	Het
Or5w12	T	G	2: 87,502,244 (GRCm39)	T156P	possibly damaging	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Parp9	T	C	16: 35,768,362 (GRCm39)	F181L	probably benign	Het
Pkdcc	G	A	17: 83,523,454 (GRCm39)	G187D	probably benign	Het
Plekhh3	C	T	11: 101,055,592 (GRCm39)	E483K	possibly damaging	Het
Ptx4	C	T	17: 25,342,082 (GRCm39)	Q186*	probably null	Het
Qsox2	T	A	2: 26,104,169 (GRCm39)	H287L	probably benign	Het
Rev3l	G	A	10: 39,700,483 (GRCm39)	G1660D	probably damaging	Het
Scamp1	G	T	13: 94,344,690 (GRCm39)	A217E	possibly damaging	Het
Slc5a9	T	C	4: 111,742,779 (GRCm39)	I438V	probably benign	Het
Sort1	T	C	3: 108,263,895 (GRCm39)	F818S	probably damaging	Het
Srl	G	A	16: 4,314,842 (GRCm39)	P267S	probably benign	Het
Tbc1d1	T	C	5: 64,331,136 (GRCm39)	I105T	probably damaging	Het
Tifab	A	G	13: 56,324,060 (GRCm39)	Y128H	probably benign	Het
Trp53bp1	A	T	2: 121,058,282 (GRCm39)	S907T	probably damaging	Het
Ubr1	G	A	2: 120,778,364 (GRCm39)	R225*	probably null	Het
Vars1	T	A	17: 35,233,034 (GRCm39)	C916*	probably null	Het
Ywhaz	T	C	15: 36,791,208 (GRCm39)	E5G	possibly damaging	Het
Zfp91	T	C	19: 12,747,419 (GRCm39)	D568G	probably damaging	Het
Zgpat	T	C	2: 181,021,985 (GRCm39)		probably benign	Het

Other mutations in Upk3bl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0085:Upk3bl	UTSW	5	136,088,969 (GRCm39)	missense	probably benign	0.00
R0539:Upk3bl	UTSW	5	136,092,840 (GRCm39)	intron	probably benign
R0554:Upk3bl	UTSW	5	136,088,648 (GRCm39)	missense	probably damaging	1.00
R0835:Upk3bl	UTSW	5	136,086,185 (GRCm39)	missense	probably benign	0.00
R1881:Upk3bl	UTSW	5	136,086,157 (GRCm39)	missense	probably benign	0.00
R4729:Upk3bl	UTSW	5	136,086,247 (GRCm39)	missense	probably benign	0.03
R4947:Upk3bl	UTSW	5	136,086,099 (GRCm39)	unclassified	probably benign
R5120:Upk3bl	UTSW	5	136,093,045 (GRCm39)	utr 3 prime	probably benign
R5243:Upk3bl	UTSW	5	136,088,977 (GRCm39)	missense	possibly damaging	0.73
R5523:Upk3bl	UTSW	5	136,088,954 (GRCm39)	missense	probably damaging	0.98
R5824:Upk3bl	UTSW	5	136,089,133 (GRCm39)	nonsense	probably null
R6210:Upk3bl	UTSW	5	136,088,674 (GRCm39)	nonsense	probably null
R6229:Upk3bl	UTSW	5	136,092,915 (GRCm39)	splice site	probably null
R9228:Upk3bl	UTSW	5	136,086,076 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGGACCCATCCCTAGTGATGCTG -3'
(R):5'- TCACCATGTGAGGTAGGCTGACTG -3'

Sequencing Primer
(F):5'- GAACCTGTCCAACCAGTTTTAG -3'
(R):5'- TGACTGCGGGAGGCATC -3'

Posted On

2013-06-11