Mutagenetix > Incidental Mutation

Incidental Mutation 'R1881:Upk3bl'

209107

Institutional Source

Beutler Lab

Gene Symbol

Upk3bl

Ensembl Gene

ENSMUSG00000006143

Gene Name

uroplakin 3B-like

Synonyms

2310043J07Rik

MMRRC Submission

039902-MU

Accession Numbers

Essential gene?

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

Stock #

R1881 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

136083346-136093180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 136086157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 31 (R31Q)

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

SMART Domains

Protein: ENSMUSP00000006303
Gene: ENSMUSG00000006143

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: R31Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000106767
Gene: ENSMUSG00000006143
AA Change: R31Q

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: R12Q

SMART Domains

Protein: ENSMUSP00000123311
Gene: ENSMUSG00000006143
AA Change: R12Q

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

96% (71/74)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	A	11: 84,161,213 (GRCm39)	Y1026*	probably null	Het
Acaca	T	G	11: 84,191,297 (GRCm39)		probably benign	Het
Adcy8	C	T	15: 64,678,503 (GRCm39)	M483I	probably damaging	Het
Adgrb2	G	A	4: 129,904,078 (GRCm39)	G735S	probably damaging	Het
Akap9	A	G	5: 4,100,173 (GRCm39)	T2612A	probably benign	Het
Armc1	A	T	3: 19,189,060 (GRCm39)	S202T	possibly damaging	Het
Arsj	T	C	3: 126,232,486 (GRCm39)	S411P	probably damaging	Het
Ash1l	T	C	3: 88,888,862 (GRCm39)	V247A	probably benign	Het
Camta2	T	C	11: 70,562,842 (GRCm39)	D935G	probably benign	Het
Cc2d2a	G	T	5: 43,898,170 (GRCm39)	V1626F	probably damaging	Het
Cpne3	T	A	4: 19,535,266 (GRCm39)	R255S	probably benign	Het
Cramp1	A	G	17: 25,196,656 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,176,735 (GRCm39)		probably null	Het
Cstf3	A	T	2: 104,484,563 (GRCm39)	M396L	probably benign	Het
Ctnnd2	A	G	15: 31,005,227 (GRCm39)		probably benign	Het
Cul7	A	T	17: 46,962,888 (GRCm39)	Y173F	probably damaging	Het
Dach1	A	T	14: 98,138,832 (GRCm39)	M537K	probably benign	Het
Ddhd2	T	C	8: 26,217,727 (GRCm39)	I717V	probably damaging	Het
Dnm1	C	T	2: 32,213,742 (GRCm39)	V475I	probably damaging	Het
Dnm3	C	T	1: 162,305,517 (GRCm39)		probably benign	Het
Dsg1c	T	A	18: 20,405,597 (GRCm39)		probably benign	Het
Eaf2	A	T	16: 36,620,941 (GRCm39)		probably benign	Het
En1	T	A	1: 120,530,904 (GRCm39)	V48E	unknown	Het
Eral1	T	A	11: 77,966,875 (GRCm39)	H180L	possibly damaging	Het
Fry	T	A	5: 150,401,511 (GRCm39)	C2760S	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ifnl2	T	A	7: 28,209,112 (GRCm39)	R68W	probably damaging	Het
Il6st	A	G	13: 112,640,947 (GRCm39)	T908A	probably damaging	Het
Krtap4-1	C	T	11: 99,518,990 (GRCm39)	G7S	probably null	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Mup5	C	A	4: 61,752,868 (GRCm39)	E52*	probably null	Het
Myh15	A	G	16: 48,891,446 (GRCm39)	I189V	probably damaging	Het
Nav3	T	A	10: 109,688,420 (GRCm39)	Q619L	probably damaging	Het
Or14a257	T	C	7: 86,138,646 (GRCm39)	M38V	probably benign	Het
Or1p1	A	T	11: 74,179,492 (GRCm39)	T7S	probably benign	Het
Or4n4b	A	G	14: 50,536,472 (GRCm39)	I98T	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Pam	T	C	1: 97,850,876 (GRCm39)	T161A	probably benign	Het
Phf8-ps	T	A	17: 33,284,258 (GRCm39)	D848V	probably damaging	Het
Pigs	T	C	11: 78,232,582 (GRCm39)	V472A	probably benign	Het
Plek	A	T	11: 16,940,111 (GRCm39)	N176K	probably benign	Het
Poc5	A	G	13: 96,535,239 (GRCm39)	N168S	probably benign	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Rttn	T	A	18: 89,033,336 (GRCm39)	S716T	probably damaging	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Slc25a20	G	A	9: 108,557,408 (GRCm39)		probably null	Het
Slc5a6	A	T	5: 31,194,155 (GRCm39)	L634Q	probably damaging	Het
Slfn3	A	G	11: 83,104,202 (GRCm39)	I235V	possibly damaging	Het
Smarcc1	T	A	9: 110,004,167 (GRCm39)	L407Q	probably damaging	Het
Spata32	T	C	11: 103,101,561 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,723,783 (GRCm39)		probably null	Het
Thada	A	G	17: 84,744,130 (GRCm39)	V726A	probably benign	Het
Tmed7	A	T	18: 46,721,622 (GRCm39)		probably null	Het
Tmem161a	G	A	8: 70,633,435 (GRCm39)	G94S	probably null	Het
Tmem81	T	A	1: 132,435,948 (GRCm39)		probably benign	Het
Trim63	C	A	4: 134,043,702 (GRCm39)	A55E	probably damaging	Het
Trmt1	A	C	8: 85,415,896 (GRCm39)		probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Tshz3	T	C	7: 36,471,079 (GRCm39)	S1023P	possibly damaging	Het
Usp40	T	C	1: 87,921,993 (GRCm39)	D290G	probably benign	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r26	T	A	6: 57,985,650 (GRCm39)	T180S	probably benign	Het
Wdr48	G	T	9: 119,738,606 (GRCm39)	V89L	probably benign	Het
Wdr6	G	T	9: 108,450,378 (GRCm39)		probably null	Het
Zfp345	A	G	2: 150,314,275 (GRCm39)	Y421H	probably damaging	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
R0559:Upk3bl	UTSW	5	136,086,330 (GRCm39)	missense	probably benign	0.06
R0835:Upk3bl	UTSW	5	136,086,185 (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'- ATAGGATCTTTATGGGGTAGCCC -3'
(R):5'- ACTGGACACAAGTCAGCAGC -3'

Sequencing Primer
(F):5'- GCAGCCTGCTTCATACCTGG -3'
(R):5'- GCAACAACAGGGGCATTC -3'

Posted On

2014-06-30