Mutagenetix > Incidental Mutation

Incidental Mutation 'R5218:Wipf1'

403584

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

042791-MU

Accession Numbers

Essential gene?

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

Stock #

R5218 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73259954-73359831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73274812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 53 (D53G)

Ref Sequence

ENSEMBL: ENSMUSP00000119190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094681] [ENSMUST00000102679] [ENSMUST00000102680] [ENSMUST00000141264] [ENSMUST00000151939]

AlphaFold

Q8K1I7

Predicted Effect

probably damaging
Transcript: ENSMUST00000094681
AA Change: D53G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092268
Gene: ENSMUSG00000075284
AA Change: D53G

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 damaging
Transcript: ENSMUST00000102679
AA Change: D53G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099740
Gene: ENSMUSG00000075284
AA Change: D53G

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 damaging
Transcript: ENSMUST00000102680
AA Change: D53G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099741
Gene: ENSMUSG00000075284
AA Change: D53G

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

noncoding transcript
Transcript: ENSMUST00000129594

Predicted Effect

probably damaging
Transcript: ENSMUST00000141264
AA Change: D53G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119190
Gene: ENSMUSG00000075284
AA Change: D53G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143061

Predicted Effect

unknown
Transcript: ENSMUST00000151939
AA Change: D53G

SMART Domains

Protein: ENSMUSP00000121335
Gene: ENSMUSG00000075284
AA Change: D53G

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WH2	32	49	9.78e-4	SMART

Meta Mutation Damage Score

0.8200

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (60/60)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,629,628 (GRCm39)	N230K	possibly damaging	Het
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
Albfm1	A	G	5: 90,729,777 (GRCm39)	K400R	probably benign	Het
Amigo1	A	G	3: 108,095,086 (GRCm39)		probably null	Het
Arhgap30	A	T	1: 171,236,328 (GRCm39)	T901S	probably benign	Het
Arpp21	T	C	9: 111,972,499 (GRCm39)	D264G	probably damaging	Het
Ccbe1	C	T	18: 66,216,229 (GRCm39)	G165S	probably damaging	Het
Celsr1	T	C	15: 85,816,585 (GRCm39)	D1786G	probably damaging	Het
Cntn1	T	C	15: 92,237,430 (GRCm39)	L1008P	unknown	Het
Dclk2	T	A	3: 86,712,985 (GRCm39)	D489V	probably damaging	Het
Dip2b	T	A	15: 100,052,177 (GRCm39)	D259E	probably benign	Het
Disp3	T	C	4: 148,327,333 (GRCm39)	S1184G	possibly damaging	Het
Dync1li2	C	T	8: 105,169,179 (GRCm39)	W36*	probably null	Het
Ece2	A	T	16: 20,437,290 (GRCm39)	M211L	probably benign	Het
Edn3	C	T	2: 174,603,345 (GRCm39)	A31V	probably benign	Het
Enpp2	T	C	15: 54,750,982 (GRCm39)	Q266R	possibly damaging	Het
Fabp1	C	A	6: 71,176,944 (GRCm39)	Q12K	probably damaging	Het
Flt1	G	A	5: 147,618,738 (GRCm39)	T199M	probably damaging	Het
Galns	T	A	8: 123,325,328 (GRCm39)	I275F	probably damaging	Het
Gapvd1	T	C	2: 34,618,488 (GRCm39)	D295G	probably benign	Het
Gatb	A	G	3: 85,511,751 (GRCm39)	I169V	probably benign	Het
Gpd1	T	A	15: 99,618,011 (GRCm39)	I109N	probably damaging	Het
Gps2	T	C	11: 69,807,121 (GRCm39)		probably null	Het
Hsd17b12	T	C	2: 93,913,608 (GRCm39)	N99D	probably benign	Het
Itga3	A	T	11: 94,953,574 (GRCm39)	V256E	probably benign	Het
Kcnma1	T	A	14: 23,513,253 (GRCm39)	Y527F	probably damaging	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lrp1	C	A	10: 127,384,488 (GRCm39)	E3580D	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Medag	A	T	5: 149,345,719 (GRCm39)		probably benign	Het
Ncdn	C	A	4: 126,644,603 (GRCm39)	R73L	probably benign	Het
Nr4a1	T	C	15: 101,170,034 (GRCm39)	V339A	probably benign	Het
Ocln	G	T	13: 100,642,822 (GRCm39)	P420Q	probably damaging	Het
Or5ac24	A	T	16: 59,165,270 (GRCm39)	S265T	probably benign	Het
Pank4	C	T	4: 155,064,185 (GRCm39)	T681I	probably benign	Het
Pcdhb6	T	A	18: 37,467,388 (GRCm39)	V103E	possibly damaging	Het
Pcsk6	T	C	7: 65,675,036 (GRCm39)	F469S	probably benign	Het
Phrf1	A	G	7: 140,841,214 (GRCm39)	N1353S	possibly damaging	Het
Pou6f2	A	G	13: 18,326,586 (GRCm39)	I72T	probably damaging	Het
Ppig	T	C	2: 69,563,127 (GRCm39)		probably benign	Het
Ptprh	T	C	7: 4,600,919 (GRCm39)	S153G	probably benign	Het
Rab11b	T	C	17: 33,967,924 (GRCm39)	N91S	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Slc2a9	A	G	5: 38,610,524 (GRCm39)	S92P	probably damaging	Het
Slit3	G	A	11: 35,575,002 (GRCm39)		probably null	Het
Sox5	T	C	6: 143,906,616 (GRCm39)	I280V	possibly damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tdrd9	C	T	12: 112,029,909 (GRCm39)		probably benign	Het
Tmem273	T	A	14: 32,538,793 (GRCm39)		probably null	Het
Tmem74	A	T	15: 43,730,640 (GRCm39)	N134K	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl1	T	G	18: 63,812,538 (GRCm39)	K85N	probably benign	Het
Vmn2r77	T	A	7: 86,451,341 (GRCm39)	M409K	probably damaging	Het
Wnt10a	G	A	1: 74,832,754 (GRCm39)	V116I	probably benign	Het
Xpot	T	A	10: 121,455,043 (GRCm39)	D33V	probably damaging	Het
Znrf3	C	T	11: 5,231,519 (GRCm39)	V665M	possibly 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
R3975:Wipf1	UTSW	2	73,267,513 (GRCm39)	missense	probably benign	0.00
R4996:Wipf1	UTSW	2	73,270,418 (GRCm39)	unclassified	probably benign
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'- ACAATGACTAACTCAGTTCTGCC -3'
(R):5'- TGGTGTTATCTGCTCCCAGG -3'

Sequencing Primer
(F):5'- AATGACTAACTCAGTTCTGCCTTTCG -3'
(R):5'- GTGTTATCTGCTCCCAGGAATCTG -3'

Posted On

2016-07-22