Mutagenetix > Incidental Mutation

Incidental Mutation 'R5966:Wbp1l'

472142

Institutional Source

Beutler Lab

Gene Symbol

Wbp1l

Ensembl Gene

ENSMUSG00000047731

Gene Name

WW domain binding protein 1 like

Synonyms

D19Wsu162e

MMRRC Submission

044151-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46587545-46645828 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 46642619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 191 (R191*)

Ref Sequence

ENSEMBL: ENSMUSP00000117929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099376] [ENSMUST00000111855] [ENSMUST00000132202] [ENSMUST00000138302]

AlphaFold

Q8BGW2

Predicted Effect

probably null
Transcript: ENSMUST00000099376
AA Change: R207*

SMART Domains

Protein: ENSMUSP00000096975
Gene: ENSMUSG00000047731
AA Change: R207*

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:WBP-1	59	160	1.2e-52	PFAM
low complexity region	163	214	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111855
AA Change: R170*

SMART Domains

Protein: ENSMUSP00000107486
Gene: ENSMUSG00000047731
AA Change: R170*

Domain	Start	End	E-Value	Type
Pfam:WBP-1	22	123	1.1e-52	PFAM
low complexity region	126	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132202

SMART Domains

Protein: ENSMUSP00000121821
Gene: ENSMUSG00000047731

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:WBP-1	43	72	1.7e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000138302
AA Change: R191*

SMART Domains

Protein: ENSMUSP00000117929
Gene: ENSMUSG00000047731
AA Change: R191*

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:WBP-1	43	144	1.2e-52	PFAM
low complexity region	147	198	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156649

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

94% (79/84)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	A	T	10: 115,415,717 (GRCm39)		probably benign	Het
Acaa2	T	C	18: 74,937,223 (GRCm39)	L369S	probably damaging	Het
Akna	A	G	4: 63,313,140 (GRCm39)	S328P	probably damaging	Het
Albfm1	A	G	5: 90,719,546 (GRCm39)	Y214C	probably damaging	Het
Apc	A	G	18: 34,354,140 (GRCm39)		probably benign	Het
Brca2	C	T	5: 150,466,716 (GRCm39)	T2160I	probably damaging	Het
Camsap2	A	G	1: 136,204,330 (GRCm39)	S1251P	probably damaging	Het
Ccdc110	A	G	8: 46,395,573 (GRCm39)	E488G	probably damaging	Het
Ccdc158	T	A	5: 92,797,908 (GRCm39)	I411F	probably damaging	Het
Cd163	C	T	6: 124,297,595 (GRCm39)	Q914*	probably null	Het
Cd22	T	C	7: 30,566,083 (GRCm39)	D827G	probably damaging	Het
Ces1e	A	G	8: 93,946,001 (GRCm39)		probably null	Het
Col14a1	T	C	15: 55,315,779 (GRCm39)		probably null	Het
Csmd3	T	A	15: 47,713,135 (GRCm39)	D1509V	probably damaging	Het
Ddx51	A	G	5: 110,804,717 (GRCm39)	D543G	probably damaging	Het
Diaph3	T	A	14: 87,222,261 (GRCm39)	I408F	probably damaging	Het
Dld	G	A	12: 31,390,325 (GRCm39)	P213L	probably damaging	Het
Dnah6	T	C	6: 73,037,262 (GRCm39)	T3327A	probably benign	Het
Dnttip2	T	A	3: 122,078,817 (GRCm39)		probably benign	Het
Dock10	T	C	1: 80,546,225 (GRCm39)	E791G	possibly damaging	Het
Ehd3	G	T	17: 74,134,356 (GRCm39)	W238C	probably damaging	Het
Ehd3	T	G	17: 74,134,361 (GRCm39)	L240R	probably damaging	Het
Ep400	A	G	5: 110,824,766 (GRCm39)	V2357A	unknown	Het
Fam20c	T	C	5: 138,741,932 (GRCm39)	V181A	probably damaging	Het
Gm4781	T	C	10: 100,232,814 (GRCm39)		noncoding transcript	Het
Gpatch8	A	T	11: 102,371,058 (GRCm39)	S827T	unknown	Het
Grm3	A	T	5: 9,561,930 (GRCm39)	I640N	probably damaging	Het
Gstm7	A	G	3: 107,838,747 (GRCm39)		probably benign	Het
Hdac7	G	T	15: 97,700,372 (GRCm39)	H572Q	probably damaging	Het
Ift140	C	T	17: 25,313,735 (GRCm39)	Q1389*	probably null	Het
Igfn1	A	G	1: 135,893,152 (GRCm39)	V2099A	probably damaging	Het
Ik	A	G	18: 36,888,531 (GRCm39)	N443S	possibly damaging	Het
Impact	A	G	18: 13,123,601 (GRCm39)	K315E	probably benign	Het
Insr	C	A	8: 3,308,697 (GRCm39)	R113L	probably benign	Het
Jak2	T	A	19: 29,260,954 (GRCm39)	Y317N	possibly damaging	Het
Kif18a	T	A	2: 109,122,411 (GRCm39)	V162E	probably damaging	Het
L3mbtl3	A	G	10: 26,207,762 (GRCm39)	V319A	unknown	Het
Lepr	T	C	4: 101,649,324 (GRCm39)		probably benign	Het
Lmo7	C	T	14: 102,137,938 (GRCm39)	T647I	possibly damaging	Het
Mindy3	C	T	2: 12,405,854 (GRCm39)	R147Q	probably benign	Het
Mtr	T	C	13: 12,230,453 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,576,652 (GRCm39)		probably benign	Het
Nrip1	G	A	16: 76,090,471 (GRCm39)	T362M	possibly damaging	Het
Or1j17	G	T	2: 36,578,074 (GRCm39)	R20L	probably null	Het
Or1q1	T	C	2: 36,886,957 (GRCm39)	I45T	possibly damaging	Het
Or5d45	A	G	2: 88,153,222 (GRCm39)	S276P	probably benign	Het
Ovol1	G	A	19: 5,601,630 (GRCm39)	R131C	probably damaging	Het
Pcca	T	C	14: 122,905,998 (GRCm39)	V323A	probably damaging	Het
Pcdhb14	A	T	18: 37,581,295 (GRCm39)	M134L	probably benign	Het
Pecam1	G	A	11: 106,581,887 (GRCm39)	T252M	probably benign	Het
Rnd3	T	A	2: 51,022,536 (GRCm39)	I169F	probably damaging	Het
Rnmt	T	A	18: 68,444,689 (GRCm39)	D219E	probably benign	Het
Rufy1	A	T	11: 50,292,315 (GRCm39)	F491L	probably benign	Het
Ryr2	G	T	13: 11,677,124 (GRCm39)	C3242*	probably null	Het
Smurf2	G	T	11: 106,766,727 (GRCm39)	R31S	possibly damaging	Het
Sptbn1	A	G	11: 30,074,873 (GRCm39)	I1333T	probably damaging	Het
Stard9	G	A	2: 120,527,580 (GRCm39)	C1279Y	probably damaging	Het
Sugp2	T	C	8: 70,704,753 (GRCm39)		probably null	Het
Sulf1	A	T	1: 12,929,636 (GRCm39)	D301V	probably benign	Het
Tbcd	G	T	11: 121,492,737 (GRCm39)		probably benign	Het
Tlr11	T	C	14: 50,599,712 (GRCm39)	I566T	probably benign	Het
Tm9sf2	T	A	14: 122,374,921 (GRCm39)		probably benign	Het
Tnfaip8l1	T	C	17: 56,478,799 (GRCm39)	F30L	probably benign	Het
Trav15-2-dv6-2	T	A	14: 53,887,433 (GRCm39)	C118S	probably damaging	Het
Ttc13	A	G	8: 125,408,959 (GRCm39)		probably benign	Het
Ubqln3	A	T	7: 103,790,906 (GRCm39)	S395T	probably benign	Het
Urb2	A	G	8: 124,754,827 (GRCm39)	D178G	probably benign	Het
Usf3	A	G	16: 44,041,222 (GRCm39)	I1901V	probably benign	Het
Vmn1r173	A	T	7: 23,402,112 (GRCm39)	I116F	probably benign	Het
Vmn1r69	T	A	7: 10,314,717 (GRCm39)	T5S	probably benign	Het
Wfikkn2	C	T	11: 94,129,688 (GRCm39)	R151H	probably damaging	Het

Other mutations in Wbp1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Wbp1l	APN	19	46,632,808 (GRCm39)	missense	probably damaging	1.00
IGL01602:Wbp1l	APN	19	46,642,839 (GRCm39)	missense	possibly damaging	0.92
IGL01605:Wbp1l	APN	19	46,642,839 (GRCm39)	missense	possibly damaging	0.92
IGL01820:Wbp1l	APN	19	46,640,922 (GRCm39)	missense	probably damaging	1.00
IGL02058:Wbp1l	APN	19	46,640,959 (GRCm39)	nonsense	probably null
IGL02117:Wbp1l	APN	19	46,632,876 (GRCm39)	missense	probably benign	0.26
IGL02245:Wbp1l	APN	19	46,643,057 (GRCm39)	missense	possibly damaging	0.52
IGL02321:Wbp1l	APN	19	46,642,749 (GRCm39)	missense	probably benign	0.01
IGL03126:Wbp1l	APN	19	46,632,838 (GRCm39)	missense	probably damaging	0.96
PIT4810001:Wbp1l	UTSW	19	46,642,761 (GRCm39)	missense	probably benign	0.07
R0610:Wbp1l	UTSW	19	46,643,109 (GRCm39)	missense	probably damaging	1.00
R1636:Wbp1l	UTSW	19	46,632,883 (GRCm39)	missense	probably damaging	1.00
R3978:Wbp1l	UTSW	19	46,642,396 (GRCm39)	splice site	probably null
R3980:Wbp1l	UTSW	19	46,642,396 (GRCm39)	splice site	probably null
R5387:Wbp1l	UTSW	19	46,632,896 (GRCm39)	critical splice donor site	probably null
R5524:Wbp1l	UTSW	19	46,642,695 (GRCm39)	missense	possibly damaging	0.94
R5889:Wbp1l	UTSW	19	46,642,619 (GRCm39)	nonsense	probably null
R5935:Wbp1l	UTSW	19	46,642,619 (GRCm39)	nonsense	probably null
R5942:Wbp1l	UTSW	19	46,642,869 (GRCm39)	missense	probably damaging	1.00
R5964:Wbp1l	UTSW	19	46,642,619 (GRCm39)	nonsense	probably null
R6480:Wbp1l	UTSW	19	46,642,758 (GRCm39)	missense	probably damaging	0.96
R7290:Wbp1l	UTSW	19	46,611,876 (GRCm39)	intron	probably benign
R7297:Wbp1l	UTSW	19	46,642,839 (GRCm39)	missense	possibly damaging	0.92
R7363:Wbp1l	UTSW	19	46,642,569 (GRCm39)	missense	possibly damaging	0.52
R8493:Wbp1l	UTSW	19	46,640,988 (GRCm39)	missense	possibly damaging	0.75
R9178:Wbp1l	UTSW	19	46,640,933 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTATGAGGAAGTGGTGAACCG -3'
(R):5'- TGTCTTCACTGTCAGGGGAC -3'

Sequencing Primer
(F):5'- AAGTGGTGAACCGACCTCC -3'
(R):5'- GCTCAGAACGCGAATCTTTCAGTAG -3'

Posted On

2017-03-31