Mutagenetix > Incidental Mutation

Incidental Mutation 'R5523:Upk3bl'

431660

Institutional Source

Beutler Lab

Gene Symbol

Upk3bl

Ensembl Gene

ENSMUSG00000006143

Gene Name

uroplakin 3B-like

Synonyms

2310043J07Rik

MMRRC Submission

043265-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R5523 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

136083346-136093180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136088954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 156 (R156W)

Ref Sequence

ENSEMBL: ENSMUSP00000106767 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006303
AA Change: R92W

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006303
Gene: ENSMUSG00000006143
AA Change: R92W

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 damaging
Transcript: ENSMUST00000111137
AA Change: R156W

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106767
Gene: ENSMUSG00000006143
AA Change: R156W

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: R137W

SMART Domains

Protein: ENSMUSP00000123311
Gene: ENSMUSG00000006143
AA Change: R137W

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

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	G	A	3: 153,644,273 (GRCm39)	T70M	probably benign	Het
Adamtsl3	G	A	7: 82,223,650 (GRCm39)	A218T	possibly damaging	Het
Ahnak2	T	C	12: 112,741,642 (GRCm39)	D810G	probably damaging	Het
Ak7	T	A	12: 105,707,341 (GRCm39)	L315*	probably null	Het
Apoa5	T	C	9: 46,181,887 (GRCm39)	F321S	possibly damaging	Het
Baiap2l1	G	C	5: 144,212,768 (GRCm39)	P416A	probably damaging	Het
Bco1	A	G	8: 117,835,432 (GRCm39)	I128V	possibly damaging	Het
Bpifb2	T	C	2: 153,717,905 (GRCm39)		probably benign	Het
Cdt1	G	A	8: 123,294,832 (GRCm39)	R13H	possibly damaging	Het
Cenpj	A	G	14: 56,789,880 (GRCm39)	V723A	probably benign	Het
Chl1	T	A	6: 103,685,675 (GRCm39)	W849R	probably damaging	Het
Cpne9	A	G	6: 113,267,192 (GRCm39)	D169G	probably damaging	Het
Cyp2d22	A	G	15: 82,256,772 (GRCm39)	V334A	probably damaging	Het
Cyp4f39	C	A	17: 32,689,807 (GRCm39)	N84K	probably benign	Het
Cyp4f40	T	A	17: 32,888,796 (GRCm39)	F192I	probably damaging	Het
Disp3	T	C	4: 148,342,554 (GRCm39)	D632G	probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Echs1	G	T	7: 139,692,426 (GRCm39)	T107K	probably benign	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Ergic1	G	A	17: 26,843,580 (GRCm39)	V17I	probably damaging	Het
Fank1	G	T	7: 133,478,569 (GRCm39)	C210F	probably damaging	Het
Fbxo15	T	G	18: 84,978,194 (GRCm39)	M136R	probably damaging	Het
Ggcx	C	A	6: 72,401,017 (GRCm39)	P240H	probably damaging	Het
Gpr179	T	C	11: 97,227,608 (GRCm39)	R1516G	probably benign	Het
Gprin3	G	A	6: 59,330,931 (GRCm39)	Q459*	probably null	Het
Hadha	C	A	5: 30,350,252 (GRCm39)	V99F	possibly damaging	Het
Hirip3	A	G	7: 126,463,034 (GRCm39)	D330G	possibly damaging	Het
Irx2	T	C	13: 72,779,714 (GRCm39)	W333R	probably damaging	Het
Kansl1l	T	C	1: 66,841,271 (GRCm39)	T10A	probably benign	Het
Kcnd2	T	C	6: 21,723,211 (GRCm39)	I467T	probably benign	Het
Klc3	A	T	7: 19,130,932 (GRCm39)	I215N	probably damaging	Het
Kmt2c	A	G	5: 25,504,337 (GRCm39)	V3657A	probably benign	Het
Lin28b	A	T	10: 45,345,164 (GRCm39)	L54*	probably null	Het
Mgll	T	C	6: 88,702,743 (GRCm39)	V14A	probably benign	Het
Mrc2	A	G	11: 105,234,408 (GRCm39)	N976S	probably benign	Het
Myh8	C	A	11: 67,196,788 (GRCm39)	A1807E	possibly damaging	Het
Nalcn	G	A	14: 123,647,155 (GRCm39)	P573S	probably damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Neb	T	C	2: 52,168,827 (GRCm39)	S1903G	probably benign	Het
Nfe2	T	A	15: 103,157,556 (GRCm39)	D145V	probably damaging	Het
Or52a20	T	A	7: 103,366,687 (GRCm39)	Y295*	probably null	Het
Padi1	A	T	4: 140,542,164 (GRCm39)	V586D	probably damaging	Het
Pcdh12	T	C	18: 38,416,192 (GRCm39)	D311G	probably damaging	Het
Pcdha11	A	T	18: 37,145,439 (GRCm39)	H510L	probably damaging	Het
Plcb1	C	A	2: 135,102,486 (GRCm39)	P221H	probably benign	Het
Plekhg2	A	T	7: 28,069,856 (GRCm39)	V58E	probably damaging	Het
Pparg	A	C	6: 115,467,032 (GRCm39)	Q435P	probably damaging	Het
Ppp1r36	A	G	12: 76,484,892 (GRCm39)	T282A	possibly damaging	Het
Prcd	T	C	11: 116,559,110 (GRCm39)		probably benign	Het
Pygo1	A	T	9: 72,852,266 (GRCm39)	H151L	possibly damaging	Het
Rnmt	A	G	18: 68,446,773 (GRCm39)	Y266C	probably benign	Het
Rxrb	T	C	17: 34,255,411 (GRCm39)	V246A	probably damaging	Het
Sart1	A	G	19: 5,433,704 (GRCm39)	S378P	probably damaging	Het
Sema4d	T	C	13: 51,865,390 (GRCm39)	N318S	possibly damaging	Het
Sis	C	T	3: 72,798,754 (GRCm39)	V1765I	probably benign	Het
Slc17a6	A	T	7: 51,276,598 (GRCm39)	K116*	probably null	Het
Smc6	T	A	12: 11,341,540 (GRCm39)	H519Q	probably benign	Het
Sowahc	T	A	10: 59,058,785 (GRCm39)	M307K	probably benign	Het
Sptbn1	A	G	11: 30,087,560 (GRCm39)	Y960H	probably damaging	Het
Tmem270	A	C	5: 134,931,636 (GRCm39)	V102G	probably benign	Het
Tmprss11d	A	G	5: 86,486,729 (GRCm39)	F54L	probably benign	Het
Top1	T	A	2: 160,544,695 (GRCm39)	Y270*	probably null	Het
Trpm2	A	G	10: 77,771,795 (GRCm39)	F615L	probably benign	Het
Ttf2	A	G	3: 100,866,558 (GRCm39)	S525P	probably damaging	Het
Ttn	A	T	2: 76,777,241 (GRCm39)	M1387K	possibly damaging	Het
Usp34	G	T	11: 23,299,198 (GRCm39)	R290L	probably benign	Het
Vwf	T	C	6: 125,620,005 (GRCm39)	V1561A		Het
Zan	A	G	5: 137,420,155 (GRCm39)	I2834T	unknown	Het
Zfp105	A	G	9: 122,755,454 (GRCm39)	Y90C	probably benign	Het
Zfp804a	T	C	2: 82,089,339 (GRCm39)	V1056A	probably damaging	Het
Zfp956	A	T	6: 47,930,455 (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
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
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
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'- CGGTAAGCTAAGCCTGTTTGC -3'
(R):5'- CTTTGCTGCTCACCTATAGGGG -3'

Sequencing Primer
(F):5'- TTCTCACTGTGACCCGGG -3'
(R):5'- TCACCTATAGGGGCCGGC -3'

Posted On

2016-10-05