Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01634:Wipf1'

93546

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wipf1

Ensembl Gene

ENSMUSG00000075284

Gene Name

WAS/WASL interacting protein family, member 1

Synonyms

Waspip, WIP, D2Ertd120e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

IGL01634

Quality Score

Status

Chromosome

Chromosomal Location

73259954-73359831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73278225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 7 (P7S)

Ref Sequence

ENSEMBL: ENSMUSP00000121335 (fasta)

Gene Model

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

AlphaFold

Q8K1I7

Predicted Effect

unknown
Transcript: ENSMUST00000094681
AA Change: P7S

SMART Domains

Protein: ENSMUSP00000092268
Gene: ENSMUSG00000075284
AA Change: P7S

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

unknown
Transcript: ENSMUST00000102679
AA Change: P7S

SMART Domains

Protein: ENSMUSP00000099740
Gene: ENSMUSG00000075284
AA Change: P7S

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

unknown
Transcript: ENSMUST00000102680
AA Change: P7S

SMART Domains

Protein: ENSMUSP00000099741
Gene: ENSMUSG00000075284
AA Change: P7S

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

unknown
Transcript: ENSMUST00000141264
AA Change: P7S

SMART Domains

Protein: ENSMUSP00000119190
Gene: ENSMUSG00000075284
AA Change: P7S

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: P7S

SMART Domains

Protein: ENSMUSP00000121335
Gene: ENSMUSG00000075284
AA Change: P7S

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

Coding Region Coverage

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034H15Rik	A	T	1: 191,633,016 (GRCm39)		noncoding transcript	Het
4933421I07Rik	C	T	7: 42,097,123 (GRCm39)	D63N	probably benign	Het
Alg9	C	A	9: 50,686,677 (GRCm39)		probably null	Het
Anln	T	C	9: 22,271,771 (GRCm39)	T695A	probably benign	Het
Aox4	G	T	1: 58,261,089 (GRCm39)	D141Y	possibly damaging	Het
Arhgap21	C	A	2: 20,919,455 (GRCm39)	Q84H	probably benign	Het
Arnt	G	A	3: 95,377,709 (GRCm39)		probably benign	Het
Atp8a2	T	A	14: 60,235,511 (GRCm39)	Y677F	probably benign	Het
Car6	C	T	4: 150,282,610 (GRCm39)	V12M	probably benign	Het
Cd209d	A	T	8: 3,927,974 (GRCm39)		probably null	Het
Ctnna1	T	A	18: 35,356,501 (GRCm39)	V390E	probably damaging	Het
Cypt4	T	A	9: 24,536,952 (GRCm39)	N147K	possibly damaging	Het
Dnah10	C	A	5: 124,898,405 (GRCm39)	A3729E	probably damaging	Het
Dusp8	A	G	7: 141,638,160 (GRCm39)	V156A	probably benign	Het
Ecm1	G	A	3: 95,642,211 (GRCm39)	P458L	probably damaging	Het
Fat3	T	G	9: 15,909,654 (GRCm39)	Y2116S	probably damaging	Het
Fscn3	T	A	6: 28,430,537 (GRCm39)	Y236N	probably damaging	Het
Gaa	G	A	11: 119,164,902 (GRCm39)	S265N	possibly damaging	Het
Gas7	T	C	11: 67,565,057 (GRCm39)		probably benign	Het
Gbp8	T	C	5: 105,166,438 (GRCm39)	K297R	probably damaging	Het
Gm1818	G	A	12: 48,602,992 (GRCm39)		noncoding transcript	Het
Gm5114	G	T	7: 39,058,071 (GRCm39)	T516K	probably benign	Het
Hectd1	A	G	12: 51,850,562 (GRCm39)	S165P	probably damaging	Het
Hoxb4	G	T	11: 96,209,726 (GRCm39)	R44L	probably damaging	Het
Ivd	G	A	2: 118,706,863 (GRCm39)	R285H	probably damaging	Het
Krtap20-2	T	C	16: 89,002,977 (GRCm39)	F59S	unknown	Het
Megf8	G	A	7: 25,058,206 (GRCm39)		probably benign	Het
Mgat4d	A	T	8: 84,094,745 (GRCm39)	M261L	possibly damaging	Het
Mlc1	A	T	15: 88,858,921 (GRCm39)		probably benign	Het
Mmp20	T	A	9: 7,635,149 (GRCm39)	Y43*	probably null	Het
Morc3	G	A	16: 93,670,125 (GRCm39)	V767I	probably benign	Het
Myo15a	A	G	11: 60,386,298 (GRCm39)	T1808A	probably damaging	Het
Notch4	T	C	17: 34,791,562 (GRCm39)	F574L	probably damaging	Het
Npas3	G	A	12: 53,993,946 (GRCm39)	V164M	probably damaging	Het
Nptx1	A	G	11: 119,435,498 (GRCm39)	Y273H	probably damaging	Het
Oaf	T	C	9: 43,135,301 (GRCm39)	N159S	probably damaging	Het
Or10a3n	A	T	7: 108,493,292 (GRCm39)	F107L	probably benign	Het
Or4c111	T	A	2: 88,843,788 (GRCm39)	I207F	probably damaging	Het
Or5ak24	A	T	2: 85,260,783 (GRCm39)	L130H	probably damaging	Het
Pgm2	T	C	5: 64,258,317 (GRCm39)	F101L	probably benign	Het
Pkd1l3	A	C	8: 110,394,157 (GRCm39)		probably null	Het
Plcd1	C	T	9: 118,902,857 (GRCm39)	R527H	probably damaging	Het
Rexo2	C	T	9: 48,380,215 (GRCm39)	E206K	probably damaging	Het
Ropn1	C	A	16: 34,487,148 (GRCm39)	T28N	possibly damaging	Het
Ropn1	A	T	16: 34,487,141 (GRCm39)	I26F	probably damaging	Het
Rpgrip1l	C	A	8: 91,979,171 (GRCm39)	S998I	probably benign	Het
Rpgrip1l	T	A	8: 91,979,172 (GRCm39)	S998C	probably benign	Het
Scap	T	C	9: 110,207,857 (GRCm39)		probably null	Het
Sec23b	T	C	2: 144,401,150 (GRCm39)	Y4H	probably damaging	Het
Sfrp4	C	A	13: 19,807,800 (GRCm39)	D66E	possibly damaging	Het
Slc25a36	T	C	9: 96,962,534 (GRCm39)	T13A	probably benign	Het
Synpr	A	T	14: 13,608,576 (GRCm38)	I119F	possibly damaging	Het
Tamm41	A	C	6: 114,993,059 (GRCm39)	H109Q	probably benign	Het
Tet1	A	T	10: 62,714,367 (GRCm39)	I476K	possibly damaging	Het
Tg	A	T	15: 66,601,415 (GRCm39)	I142F	probably benign	Het
Thada	A	T	17: 84,700,786 (GRCm39)		probably null	Het
Triobp	T	C	15: 78,877,568 (GRCm39)	L1654P	probably damaging	Het
Trpm7	A	G	2: 126,668,738 (GRCm39)	V726A	probably damaging	Het
Txndc15	T	G	13: 55,869,438 (GRCm39)	V197G	probably damaging	Het
Ubr3	A	T	2: 69,803,916 (GRCm39)	T1169S	probably benign	Het
Uhmk1	C	T	1: 170,034,682 (GRCm39)		probably null	Het
Vmn2r16	T	A	5: 109,488,177 (GRCm39)	M350K	probably benign	Het
Vmn2r77	G	A	7: 86,460,857 (GRCm39)	V728I	probably benign	Het
Zswim3	A	G	2: 164,661,922 (GRCm39)	D134G	probably damaging	Het

Other mutations in Wipf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-09