Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02538:Inpp5d'

297605

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Inpp5d

Ensembl Gene

ENSMUSG00000026288

Gene Name

inositol polyphosphate-5-phosphatase D

Synonyms

s-SHIP, SHIP, Src homology 2 domain-containing inositol-5-phosphatase, SHIP1, SHIP-1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.910) question?

Stock #

IGL02538

Quality Score

Status

Chromosome

Chromosomal Location

87620312-87720507 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87695366 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 393 (M393V)

Ref Sequence

ENSEMBL: ENSMUSP00000044647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042275] [ENSMUST00000072999] [ENSMUST00000167032] [ENSMUST00000168783] [ENSMUST00000169754] [ENSMUST00000170300]

Predicted Effect

probably null
Transcript: ENSMUST00000042275
AA Change: M393V

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044647
Gene: ENSMUSG00000026288
AA Change: M393V

Domain	Start	End	E-Value	Type
SH2	6	95	7.15e-29	SMART
low complexity region	107	120	N/A	INTRINSIC
IPPc	404	720	4.5e-104	SMART
low complexity region	767	777	N/A	INTRINSIC
low complexity region	954	979	N/A	INTRINSIC
low complexity region	1045	1057	N/A	INTRINSIC
low complexity region	1119	1131	N/A	INTRINSIC
low complexity region	1139	1148	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072999
AA Change: M393V

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072763
Gene: ENSMUSG00000026288
AA Change: M393V

Domain	Start	End	E-Value	Type
SH2	6	95	7.15e-29	SMART
low complexity region	107	120	N/A	INTRINSIC
IPPc	404	720	4.5e-104	SMART
low complexity region	767	777	N/A	INTRINSIC
low complexity region	932	953	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000167032
AA Change: M131V

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126569
Gene: ENSMUSG00000026288
AA Change: M131V

Domain	Start	End	E-Value	Type
IPPc	142	458	4.5e-104	SMART
low complexity region	505	515	N/A	INTRINSIC
low complexity region	692	717	N/A	INTRINSIC
low complexity region	783	795	N/A	INTRINSIC
low complexity region	857	869	N/A	INTRINSIC
low complexity region	877	886	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000168783
AA Change: M394V

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131244
Gene: ENSMUSG00000026288
AA Change: M394V

Domain	Start	End	E-Value	Type
SH2	6	95	7.15e-29	SMART
low complexity region	107	118	N/A	INTRINSIC
IPPc	405	721	4.5e-104	SMART
low complexity region	768	778	N/A	INTRINSIC
low complexity region	985	997	N/A	INTRINSIC
low complexity region	1059	1071	N/A	INTRINSIC
low complexity region	1079	1088	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000169754
AA Change: M394V

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127941
Gene: ENSMUSG00000026288
AA Change: M394V

Domain	Start	End	E-Value	Type
SH2	6	95	4.6e-31	SMART
low complexity region	107	118	N/A	INTRINSIC
IPPc	405	721	2.2e-106	SMART
low complexity region	768	778	N/A	INTRINSIC
low complexity region	955	980	N/A	INTRINSIC
low complexity region	1046	1058	N/A	INTRINSIC
low complexity region	1120	1132	N/A	INTRINSIC
low complexity region	1140	1149	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000170300
AA Change: M131V

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132384
Gene: ENSMUSG00000026288
AA Change: M131V

Domain	Start	End	E-Value	Type
IPPc	142	458	4.5e-104	SMART
low complexity region	505	515	N/A	INTRINSIC
low complexity region	722	734	N/A	INTRINSIC
low complexity region	796	808	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC

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 is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous null mice fail to reject fully mismatched allogeneic marrow grafts, do not develop graft versus host disease, and show enhanced survival after such transplants. Homozygous splice site mutants exhibit wasting, granulocytic lung infiltration anddefective cytolysis by NK cells and CTLs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,306,605	I171L	possibly damaging	Het
Amdhd1	C	T	10: 93,527,246	V327I	probably damaging	Het
Ankrd1	T	C	19: 36,115,056	H257R	probably damaging	Het
Ano5	G	A	7: 51,583,775	R595H	probably damaging	Het
Atg2a	A	G	19: 6,257,628	T1531A	probably benign	Het
Bsn	A	G	9: 108,105,236	S1001P	unknown	Het
Btn1a1	T	C	13: 23,459,215	T355A	possibly damaging	Het
Cd22	G	T	7: 30,877,560	N107K	probably benign	Het
Ceacam10	A	G	7: 24,778,483	H141R	probably damaging	Het
Chil3	T	C	3: 106,164,129	D73G	probably damaging	Het
Cit	C	T	5: 115,986,989	Q1536*	probably null	Het
Dmgdh	T	A	13: 93,708,753	I418K	possibly damaging	Het
Efcab6	T	A	15: 84,054,521		probably benign	Het
Eif4g2	T	C	7: 111,079,316	I110V	probably benign	Het
Fam217a	T	C	13: 34,911,113	Y221C	probably damaging	Het
Fezf1	T	A	6: 23,246,558	K342N	probably damaging	Het
Git2	A	T	5: 114,730,986		probably benign	Het
Gm4951	A	T	18: 60,245,872	K160*	probably null	Het
Gm8126	A	T	14: 43,259,590	R63W	probably benign	Het
Ica1l	T	C	1: 60,010,186	K203E	probably benign	Het
Kbtbd11	A	G	8: 15,028,841	D480G	probably damaging	Het
Klhl1	T	C	14: 96,240,213	N473S	probably benign	Het
Krt2	A	G	15: 101,811,154	S694P	unknown	Het
Lhfp	C	T	3: 53,043,311	A2V	probably benign	Het
Lipk	T	A	19: 34,046,879	L354Q	probably damaging	Het
Luzp2	T	A	7: 55,211,798	L225*	probably null	Het
Mknk1	C	T	4: 115,860,091	Q58*	probably null	Het
Mut	A	T	17: 40,938,619	I162F	probably damaging	Het
Nol11	T	A	11: 107,173,373	M518L	probably benign	Het
Nubpl	T	C	12: 52,310,694		probably benign	Het
Nup35	T	A	2: 80,644,219	S93R	possibly damaging	Het
Olfr330	T	C	11: 58,529,990		probably benign	Het
Olfr992	T	A	2: 85,400,303	I77F	probably damaging	Het
Pex3	T	C	10: 13,535,600	E178G	possibly damaging	Het
Rad23b	C	A	4: 55,370,457	P161Q	possibly damaging	Het
Sipa1l2	A	G	8: 125,451,977	S1128P	probably damaging	Het
Terb2	T	C	2: 122,204,808		probably benign	Het
Trim72	A	G	7: 128,004,770	Y96C	probably damaging	Het
Tyk2	T	C	9: 21,111,043	D830G	possibly damaging	Het
Uri1	A	G	7: 37,965,491	S259P	probably benign	Het
Usp38	A	T	8: 80,985,558	L616H	probably damaging	Het
Uspl1	T	A	5: 149,188,459	C73S	probably damaging	Het
Wdr7	C	A	18: 63,796,235	D1047E	probably benign	Het

Other mutations in Inpp5d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Inpp5d	APN	1	87683815	missense	probably benign	0.00
IGL00329:Inpp5d	APN	1	87668003	missense	probably benign	0.00
IGL00897:Inpp5d	APN	1	87712114	missense	probably benign	0.14
IGL01314:Inpp5d	APN	1	87683750	nonsense	probably null
IGL02145:Inpp5d	APN	1	87715055	missense	probably damaging	1.00
IGL02422:Inpp5d	APN	1	87708132	missense	probably damaging	1.00
IGL02680:Inpp5d	APN	1	87701483	missense	possibly damaging	0.87
IGL03083:Inpp5d	APN	1	87711141	missense	probably damaging	1.00
IGL03308:Inpp5d	APN	1	87703197	missense	probably damaging	1.00
americas	UTSW	1	87715142	missense	probably damaging	1.00
auburn	UTSW	1	87681680	splice site	probably null
naranjo	UTSW	1	87708211	critical splice donor site	probably null
New_black	UTSW	1	87709675	missense	probably damaging	1.00
Orange	UTSW	1	87697546	critical splice donor site	probably null
pantone	UTSW	1	87699675	missense	probably damaging	1.00
sailing	UTSW	1	87705964	missense	probably damaging	1.00
Salamander	UTSW	1	87695380	missense	probably damaging	0.99
Sandstone	UTSW	1	87695400	missense	probably damaging	1.00
styx	UTSW	1	87669784	critical splice donor site	probably benign
ulster	UTSW	1	87701476	nonsense	probably null
R0010:Inpp5d	UTSW	1	87697546	critical splice donor site	probably null
R0037:Inpp5d	UTSW	1	87708129	missense	probably damaging	0.99
R0087:Inpp5d	UTSW	1	87715138	missense	probably damaging	1.00
R0492:Inpp5d	UTSW	1	87698150	missense	possibly damaging	0.94
R0520:Inpp5d	UTSW	1	87705920	splice site	probably benign
R0733:Inpp5d	UTSW	1	87668077	splice site	probably benign
R1464:Inpp5d	UTSW	1	87698105	splice site	probably benign
R1576:Inpp5d	UTSW	1	87669685	missense	probably benign	0.16
R1576:Inpp5d	UTSW	1	87681558	missense	probably damaging	0.96
R1592:Inpp5d	UTSW	1	87665532	missense	possibly damaging	0.90
R1750:Inpp5d	UTSW	1	87699081	missense	probably damaging	1.00
R1774:Inpp5d	UTSW	1	87667889	missense	probably benign	0.30
R1972:Inpp5d	UTSW	1	87676314	missense	probably benign	0.00
R2024:Inpp5d	UTSW	1	87695350	nonsense	probably null
R2405:Inpp5d	UTSW	1	87699729	missense	possibly damaging	0.94
R3412:Inpp5d	UTSW	1	87668057	missense	possibly damaging	0.93
R3414:Inpp5d	UTSW	1	87668057	missense	possibly damaging	0.93
R3756:Inpp5d	UTSW	1	87701408	splice site	probably benign
R4652:Inpp5d	UTSW	1	87665451	missense	probably benign	0.03
R4676:Inpp5d	UTSW	1	87715142	missense	probably damaging	1.00
R4834:Inpp5d	UTSW	1	87697523	missense	possibly damaging	0.52
R5086:Inpp5d	UTSW	1	87705964	missense	probably damaging	1.00
R5159:Inpp5d	UTSW	1	87676342	missense	probably damaging	1.00
R5250:Inpp5d	UTSW	1	87709675	missense	probably damaging	1.00
R5442:Inpp5d	UTSW	1	87718066	missense	probably benign	0.02
R5875:Inpp5d	UTSW	1	87717974	missense	possibly damaging	0.47
R6135:Inpp5d	UTSW	1	87620397	unclassified	probably null
R6371:Inpp5d	UTSW	1	87699675	missense	probably damaging	1.00
R6385:Inpp5d	UTSW	1	87699675	missense	probably damaging	1.00
R6386:Inpp5d	UTSW	1	87699675	missense	probably damaging	1.00
R6526:Inpp5d	UTSW	1	87676250	start gained	probably benign
R6572:Inpp5d	UTSW	1	87695396	missense	probably damaging	0.99
R6831:Inpp5d	UTSW	1	87701476	nonsense	probably null
R6853:Inpp5d	UTSW	1	87681680	splice site	probably null
R6883:Inpp5d	UTSW	1	87699690	missense	probably damaging	0.98
R7082:Inpp5d	UTSW	1	87695380	missense	probably damaging	0.99
R7215:Inpp5d	UTSW	1	87701218	missense	probably benign	0.30
R7418:Inpp5d	UTSW	1	87708211	critical splice donor site	probably null
R7471:Inpp5d	UTSW	1	87695400	missense	probably damaging	1.00
R7593:Inpp5d	UTSW	1	87717778	missense	possibly damaging	0.82
R7716:Inpp5d	UTSW	1	87665399	missense	probably damaging	0.97
R7781:Inpp5d	UTSW	1	87699672	missense	probably damaging	1.00
R7808:Inpp5d	UTSW	1	87683845	nonsense	probably null

Posted On

2015-04-16