Mutagenetix > Incidental Mutation

Incidental Mutation 'R3975:Wipf1'

312570

Institutional Source

Beutler Lab

Gene Symbol

Wipf1

Ensembl Gene

ENSMUSG00000075284

Gene Name

WAS/WASL interacting protein family, member 1

Synonyms

Waspip, WIP, D2Ertd120e

MMRRC Submission

040939-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R3975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73259954-73359831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73267513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 295 (G295D)

Ref Sequence

ENSEMBL: ENSMUSP00000099741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094681] [ENSMUST00000102679] [ENSMUST00000102680] [ENSMUST00000141264]

AlphaFold

Q8K1I7

Predicted Effect

probably benign
Transcript: ENSMUST00000094681
AA Change: G295D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000092268
Gene: ENSMUSG00000075284
AA Change: G295D

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WH2	32	49	9.78e-4	SMART
low complexity region	64	108	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	185	196	N/A	INTRINSIC
low complexity region	232	249	N/A	INTRINSIC
low complexity region	274	317	N/A	INTRINSIC
low complexity region	329	374	N/A	INTRINSIC
low complexity region	398	424	N/A	INTRINSIC
PDB:2IFS\|A	441	470	1e-11	PDB
low complexity region	471	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102679
AA Change: G295D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099740
Gene: ENSMUSG00000075284
AA Change: G295D

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WH2	32	49	9.78e-4	SMART
low complexity region	64	108	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	185	196	N/A	INTRINSIC
low complexity region	232	249	N/A	INTRINSIC
low complexity region	274	317	N/A	INTRINSIC
low complexity region	329	374	N/A	INTRINSIC
low complexity region	398	424	N/A	INTRINSIC
PDB:2IFS\|A	441	470	1e-11	PDB
low complexity region	471	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102680
AA Change: G295D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099741
Gene: ENSMUSG00000075284
AA Change: G295D

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WH2	32	49	9.78e-4	SMART
low complexity region	64	108	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	185	196	N/A	INTRINSIC
low complexity region	232	249	N/A	INTRINSIC
low complexity region	274	317	N/A	INTRINSIC
low complexity region	329	374	N/A	INTRINSIC
low complexity region	398	424	N/A	INTRINSIC
PDB:2IFS\|A	441	470	1e-11	PDB
low complexity region	471	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141264

SMART Domains

Protein: ENSMUSP00000119190
Gene: ENSMUSG00000075284

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WH2	32	49	9.78e-4	SMART
low complexity region	64	108	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	185	196	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

95% (59/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have immunological abnormalities, although lymphocyte development appears normal. Mutants show abnormal B and T cell proliferative responses, high serum immunoglobulin levels and impaired immunological synapse formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	A	1: 63,586,888 (GRCm39)	Y416*	probably null	Het
Akr1b10	G	T	6: 34,369,431 (GRCm39)		probably null	Het
Arap2	G	T	5: 62,906,237 (GRCm39)	P261T	possibly damaging	Het
Bckdha	C	A	7: 25,330,858 (GRCm39)	D53Y	probably damaging	Het
Bfsp2	A	G	9: 103,357,271 (GRCm39)	V52A	probably benign	Het
Bola3	T	C	6: 83,328,249 (GRCm39)	L45P	probably benign	Het
Cacna2d4	A	G	6: 119,255,134 (GRCm39)		probably null	Het
Ccn6	C	G	10: 39,031,094 (GRCm39)	C143S	probably damaging	Het
Ceacam16	C	A	7: 19,587,537 (GRCm39)	Q410H	probably damaging	Het
Cenpe	A	G	3: 134,940,986 (GRCm39)		probably null	Het
Cenpe	T	C	3: 134,944,233 (GRCm39)		probably null	Het
Clca3a1	A	T	3: 144,738,400 (GRCm39)	V36D	probably damaging	Het
Copa	T	A	1: 171,948,812 (GRCm39)	S1155T	probably benign	Het
Crb2	C	A	2: 37,683,680 (GRCm39)	P1061T	possibly damaging	Het
Crot	T	C	5: 9,027,541 (GRCm39)	T264A	probably benign	Het
Cyp51	C	T	5: 4,141,877 (GRCm39)	G346S	probably damaging	Het
Dnah6	A	G	6: 73,098,975 (GRCm39)	S2027P	possibly damaging	Het
Fbh1	T	C	2: 11,772,021 (GRCm39)	H220R	possibly damaging	Het
Gdf2	T	A	14: 33,666,791 (GRCm39)	V171D	probably damaging	Het
Golgb1	T	G	16: 36,738,933 (GRCm39)	V2424G	probably damaging	Het
Gpbp1l1	T	C	4: 116,428,182 (GRCm39)		probably null	Het
Gpx6	C	A	13: 21,501,828 (GRCm39)	S150Y	probably damaging	Het
Greb1l	A	G	18: 10,522,247 (GRCm39)	N672S	possibly damaging	Het
Kcnma1	C	T	14: 24,053,815 (GRCm39)		probably null	Het
Lrba	T	C	3: 86,258,562 (GRCm39)	F1350L	probably damaging	Het
Nat8f4	A	G	6: 85,878,052 (GRCm39)	V157A	possibly damaging	Het
Niban1	T	C	1: 151,525,086 (GRCm39)	Y164H	probably damaging	Het
Nt5dc2	T	C	14: 30,860,832 (GRCm39)	S439P	probably damaging	Het
Or2ag12	T	C	7: 106,276,992 (GRCm39)	R234G	probably damaging	Het
Or2n1	A	G	17: 38,486,386 (GRCm39)	N137S	probably benign	Het
Or5t18	G	A	2: 86,636,804 (GRCm39)	P180S	possibly damaging	Het
Or8k40	T	A	2: 86,584,887 (GRCm39)	H65L	probably damaging	Het
Orm3	A	T	4: 63,274,395 (GRCm39)		probably null	Het
Otof	A	G	5: 30,528,056 (GRCm39)	L1929P	probably damaging	Het
Pex5l	C	A	3: 33,069,164 (GRCm39)	C111F	probably damaging	Het
Plcl1	T	A	1: 55,737,374 (GRCm39)	M905K	probably benign	Het
Prdm6	T	C	18: 53,673,278 (GRCm39)	I186T	possibly damaging	Het
Rara	T	G	11: 98,861,395 (GRCm39)	I236S	probably damaging	Het
Reln	A	T	5: 22,200,364 (GRCm39)	S1379T	possibly damaging	Het
Rnps1-ps	A	T	6: 7,983,149 (GRCm39)		noncoding transcript	Het
Rp1l1	T	A	14: 64,267,758 (GRCm39)	Y1115N	probably damaging	Het
Rpe65	A	T	3: 159,310,222 (GRCm39)	N135I	probably damaging	Het
Rps6	A	G	4: 86,775,050 (GRCm39)	V18A	probably benign	Het
Scrn3	T	C	2: 73,166,121 (GRCm39)	S385P	possibly damaging	Het
Sis	T	C	3: 72,850,968 (GRCm39)	T577A	probably damaging	Het
Slx1b	G	A	7: 126,290,979 (GRCm39)	L239F	probably damaging	Het
Smad4	G	T	18: 73,810,807 (GRCm39)	T59K	possibly damaging	Het
Smad6	A	G	9: 63,928,212 (GRCm39)	V32A	probably benign	Het
Smc6	T	A	12: 11,324,075 (GRCm39)	F73L	probably damaging	Het
Sorbs2	T	C	8: 46,225,747 (GRCm39)		probably null	Het
Svbp	T	A	4: 119,053,090 (GRCm39)	F32I	probably benign	Het
Tap1	C	A	17: 34,408,541 (GRCm39)		probably benign	Het
Tesk1	C	T	4: 43,445,786 (GRCm39)	P280S	possibly damaging	Het
Thrb	A	G	14: 18,033,456 (GRCm38)	I406M	probably damaging	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Ttn	T	C	2: 76,706,997 (GRCm39)		probably benign	Het
Umodl1	C	A	17: 31,203,763 (GRCm39)	Y525*	probably null	Het
Vmn2r70	C	T	7: 85,208,540 (GRCm39)	V646I	probably benign	Het
Zim1	A	T	7: 6,680,129 (GRCm39)	H511Q	probably damaging	Het

Other mutations in Wipf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Wipf1	APN	2	73,278,225 (GRCm39)	missense	unknown
IGL02391:Wipf1	APN	2	73,264,487 (GRCm39)	missense	probably damaging	1.00
IGL02992:Wipf1	APN	2	73,264,427 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Wipf1	UTSW	2	73,267,946 (GRCm39)	missense	probably damaging	1.00
R1553:Wipf1	UTSW	2	73,267,870 (GRCm39)	missense	possibly damaging	0.96
R1920:Wipf1	UTSW	2	73,270,499 (GRCm39)	missense	probably benign	0.11
R3154:Wipf1	UTSW	2	73,267,834 (GRCm39)	missense	possibly damaging	0.86
R3161:Wipf1	UTSW	2	73,265,293 (GRCm39)	missense	probably damaging	0.99
R4996:Wipf1	UTSW	2	73,270,418 (GRCm39)	unclassified	probably benign
R5218:Wipf1	UTSW	2	73,274,812 (GRCm39)	missense	probably damaging	1.00
R6916:Wipf1	UTSW	2	73,267,748 (GRCm39)	missense	probably damaging	1.00
R7006:Wipf1	UTSW	2	73,267,441 (GRCm39)	missense	probably damaging	1.00
R7259:Wipf1	UTSW	2	73,265,425 (GRCm39)	missense	probably damaging	0.99
R7486:Wipf1	UTSW	2	73,270,418 (GRCm39)	unclassified	probably benign
R7689:Wipf1	UTSW	2	73,262,789 (GRCm39)	missense	probably damaging	0.98
R7712:Wipf1	UTSW	2	73,274,805 (GRCm39)	missense	probably damaging	1.00
R8094:Wipf1	UTSW	2	73,267,879 (GRCm39)	missense	possibly damaging	0.67
R8095:Wipf1	UTSW	2	73,267,879 (GRCm39)	missense	possibly damaging	0.67
R8120:Wipf1	UTSW	2	73,267,879 (GRCm39)	missense	possibly damaging	0.67
R8136:Wipf1	UTSW	2	73,267,879 (GRCm39)	missense	possibly damaging	0.67
R8150:Wipf1	UTSW	2	73,267,879 (GRCm39)	missense	possibly damaging	0.67
R8152:Wipf1	UTSW	2	73,267,879 (GRCm39)	missense	possibly damaging	0.67
R9558:Wipf1	UTSW	2	73,268,020 (GRCm39)	missense	probably damaging	1.00
Z1177:Wipf1	UTSW	2	73,267,708 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- ATACCTGATCTGCCTGGTGGATC -3'
(R):5'- AACCGAGGTGCTGCTTTTGG -3'

Sequencing Primer
(F):5'- CTGGTGGATCCCTTACAGGAG -3'
(R):5'- AGAACCCCTCCGGCTCCTC -3'

Posted On

2015-04-30