Mutagenetix > Incidental Mutation

Incidental Mutation 'R3980:Wbp1l'

311297

Institutional Source

Beutler Lab

Gene Symbol

Wbp1l

Ensembl Gene

ENSMUSG00000047731

Gene Name

WW domain binding protein 1 like

Synonyms

MMRRC Submission

040843-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46599084-46657389 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 46653957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117929 (fasta)

Gene Model

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

AlphaFold

Q8BGW2

Predicted Effect

probably null
Transcript: ENSMUST00000099376

SMART Domains

Protein: ENSMUSP00000096975
Gene: ENSMUSG00000047731

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: ENSMUST00000099376

SMART Domains

Protein: ENSMUSP00000096975
Gene: ENSMUSG00000047731

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

SMART Domains

Protein: ENSMUSP00000107486
Gene: ENSMUSG00000047731

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 null
Transcript: ENSMUST00000111855

SMART Domains

Protein: ENSMUSP00000107486
Gene: ENSMUSG00000047731

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 null
Transcript: ENSMUST00000111855

SMART Domains

Protein: ENSMUSP00000107486
Gene: ENSMUSG00000047731

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 null
Transcript: ENSMUST00000111855

SMART Domains

Protein: ENSMUSP00000107486
Gene: ENSMUSG00000047731

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 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

SMART Domains

Protein: ENSMUSP00000117929
Gene: ENSMUSG00000047731

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

probably null
Transcript: ENSMUST00000138302

SMART Domains

Protein: ENSMUSP00000117929
Gene: ENSMUSG00000047731

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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,582,943	G268R	probably damaging	Het
Amacr	T	A	15: 10,988,929	Y240*	probably null	Het
Ankhd1	A	T	18: 36,647,613	H1906L	probably damaging	Het
Arhgef25	C	A	10: 127,187,220	C106F	probably damaging	Het
Bean1	A	T	8: 104,211,098	Q103L	possibly damaging	Het
Ccr9	A	T	9: 123,779,376	N41I	probably benign	Het
Ceacam16	A	G	7: 19,858,633	F117L	probably benign	Het
Col4a1	T	C	8: 11,239,155		probably benign	Het
Csk	A	G	9: 57,630,780	Y48H	probably damaging	Het
Csmd1	T	A	8: 15,906,056	K3384*	probably null	Het
Ctnnd2	T	A	15: 30,669,443	H399Q	probably benign	Het
Cutal	T	C	2: 34,882,313	Y30H	possibly damaging	Het
Cybb	T	C	X: 9,444,588	Y425C	probably damaging	Het
Dab2	A	G	15: 6,435,163		probably null	Het
Defb30	C	A	14: 63,035,972	C64F	probably damaging	Het
Eif2a	T	C	3: 58,539,539	I45T	probably benign	Het
Esyt1	T	A	10: 128,511,524	D1044V	probably damaging	Het
Fam196b	G	A	11: 34,402,678	C240Y	probably benign	Het
Gabpb2	A	T	3: 95,188,770	V382E	probably damaging	Het
Glb1	T	A	9: 114,417,064	I61K	probably damaging	Het
Kcnt1	T	C	2: 25,893,214	V263A	possibly damaging	Het
Kdm5b	A	G	1: 134,619,670	D1019G	probably benign	Het
Klhl2	A	T	8: 64,743,075	L545M	probably damaging	Het
Klhl2	C	A	8: 64,743,081	G543C	probably damaging	Het
Krt31	G	T	11: 100,048,204	Q264K	probably damaging	Het
Lmnb1	A	G	18: 56,731,019	D232G	probably damaging	Het
Loxhd1	T	C	18: 77,414,159	F859L	probably damaging	Het
Map7	C	A	10: 20,267,353	T416K	unknown	Het
Med18	T	A	4: 132,462,940	I45F	probably benign	Het
Mn1	A	T	5: 111,421,770	H1202L	possibly damaging	Het
Mpp7	T	C	18: 7,444,062	D120G	probably benign	Het
Nlrp1b	A	T	11: 71,181,611	F469I	possibly damaging	Het
Nos3	T	A	5: 24,377,931	D685E	probably damaging	Het
Nrap	G	A	19: 56,381,552	A206V	probably benign	Het
Nuggc	T	C	14: 65,619,093		probably null	Het
Oasl1	C	T	5: 114,932,898	T274I	probably damaging	Het
Olfr1335	T	A	4: 118,809,303	Y187F	probably benign	Het
Olfr559	T	C	7: 102,723,752	N246S	probably damaging	Het
Parp3	T	C	9: 106,474,068	D278G	probably damaging	Het
Phc3	T	A	3: 30,936,931	Q346L	probably damaging	Het
Pigo	A	G	4: 43,019,231	L1029P	probably damaging	Het
Plcb3	A	G	19: 6,966,435	I66T	probably damaging	Het
Plch2	T	C	4: 154,984,798	S1019G	probably benign	Het
Plekhg6	C	A	6: 125,373,183	C264F	probably damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Pou4f2	G	T	8: 78,435,438	H179N	possibly damaging	Het
Prpf39	T	C	12: 65,061,457		probably benign	Het
Rapgef1	G	A	2: 29,719,650	V700I	probably benign	Het
Rdh14	A	G	12: 10,394,703	I185V	probably benign	Het
Rnf111	A	T	9: 70,442,325	H785Q	probably damaging	Het
Rttn	C	T	18: 89,017,275	R758W	probably benign	Het
Sik3	G	A	9: 46,202,063	V601M	probably damaging	Het
Slc22a14	T	C	9: 119,178,486	T286A	probably benign	Het
Slc36a3	G	A	11: 55,135,383	T203I	probably benign	Het
Spata31	A	T	13: 64,922,654	Q872L	probably benign	Het
Spata31d1c	A	G	13: 65,035,160	D172G	possibly damaging	Het
Sphkap	A	T	1: 83,267,494		probably null	Het
Stat6	T	C	10: 127,655,379	V463A	probably damaging	Het
Stx7	T	C	10: 24,185,049	S225P	probably damaging	Het
Sult2a7	A	T	7: 14,473,409		probably benign	Het
Tada2a	A	T	11: 84,103,120	F179L	probably benign	Het
Tas2r103	A	G	6: 133,036,317	L262P	probably benign	Het
Tfap2d	A	G	1: 19,165,963	I382V	possibly damaging	Het
Tshr	C	A	12: 91,537,743	A485D	probably damaging	Het
Vmn1r32	T	A	6: 66,553,714	Y26F	probably damaging	Het
Vmn1r5	A	G	6: 56,985,651	T104A	probably damaging	Het

Other mutations in Wbp1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Wbp1l	APN	19	46644369	missense	probably damaging	1.00
IGL01602:Wbp1l	APN	19	46654400	missense	possibly damaging	0.92
IGL01605:Wbp1l	APN	19	46654400	missense	possibly damaging	0.92
IGL01820:Wbp1l	APN	19	46652483	missense	probably damaging	1.00
IGL02058:Wbp1l	APN	19	46652520	nonsense	probably null
IGL02117:Wbp1l	APN	19	46644437	missense	probably benign	0.26
IGL02245:Wbp1l	APN	19	46654618	missense	possibly damaging	0.52
IGL02321:Wbp1l	APN	19	46654310	missense	probably benign	0.01
IGL03126:Wbp1l	APN	19	46644399	missense	probably damaging	0.96
PIT4810001:Wbp1l	UTSW	19	46654322	missense	probably benign	0.07
R0610:Wbp1l	UTSW	19	46654670	missense	probably damaging	1.00
R1636:Wbp1l	UTSW	19	46644444	missense	probably damaging	1.00
R3978:Wbp1l	UTSW	19	46653957	splice site	probably null
R5387:Wbp1l	UTSW	19	46644457	critical splice donor site	probably null
R5524:Wbp1l	UTSW	19	46654256	missense	possibly damaging	0.94
R5889:Wbp1l	UTSW	19	46654180	nonsense	probably null
R5935:Wbp1l	UTSW	19	46654180	nonsense	probably null
R5942:Wbp1l	UTSW	19	46654430	missense	probably damaging	1.00
R5964:Wbp1l	UTSW	19	46654180	nonsense	probably null
R5966:Wbp1l	UTSW	19	46654180	nonsense	probably null
R6480:Wbp1l	UTSW	19	46654319	missense	probably damaging	0.96
R7290:Wbp1l	UTSW	19	46623437	intron	probably benign
R7297:Wbp1l	UTSW	19	46654400	missense	possibly damaging	0.92
R7363:Wbp1l	UTSW	19	46654130	missense	possibly damaging	0.52
R8493:Wbp1l	UTSW	19	46652549	missense	possibly damaging	0.75
R9178:Wbp1l	UTSW	19	46652494	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGTGAACCTTGGTGTCAC -3'
(R):5'- GACACTTGGAGGTCTTGTGC -3'

Sequencing Primer
(F):5'- CTTGACTGGTGATCAAAGCTCAC -3'
(R):5'- ACAAAGGACTGCTCTGCG -3'

Posted On

2015-04-29