Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01778:Hsh2d'

153745

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsh2d

Ensembl Gene

ENSMUSG00000062007

Gene Name

hematopoietic SH2 domain containing

Synonyms

ALX, Hsh2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

72189638-72201527 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72193507 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 16 (D16G)

Ref Sequence

ENSEMBL: ENSMUSP00000127575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072097] [ENSMUST00000165324]

Predicted Effect

probably damaging
Transcript: ENSMUST00000072097
AA Change: D16G

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

SMART Domains

Protein: ENSMUSP00000071970
Gene: ENSMUSG00000062007
AA Change: D16G

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
SH2	32	115	1.75e-23	SMART
low complexity region	320	329	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165324
AA Change: D16G

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

SMART Domains

Protein: ENSMUSP00000127575
Gene: ENSMUSG00000062007
AA Change: D16G

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
SH2	32	115	1.75e-23	SMART
low complexity region	320	329	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.] T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced IL-2 production, increased T cell proliferation in response to TCR/CD28 stimulation, splenomegaly, and an increased frequency of activated T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,666,705	K325E	probably benign	Het
Arc	C	T	15: 74,672,355	M6I	probably benign	Het
Atp7b	A	T	8: 21,994,828	D1404E	probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cdk5rap1	T	A	2: 154,366,036	N156I	probably damaging	Het
Ctsa	T	C	2: 164,834,310		probably benign	Het
Depdc1b	T	G	13: 108,362,327	N181K	probably benign	Het
Epg5	T	C	18: 78,019,274	V1994A	probably damaging	Het
Epyc	T	A	10: 97,681,237	C312*	probably null	Het
Erv3	T	A	2: 131,855,957	R161*	probably null	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,691,591	T280A	possibly damaging	Het
Gldn	A	T	9: 54,334,492		probably null	Het
Gm6768	T	C	12: 119,262,496		noncoding transcript	Het
Gtf3c4	G	A	2: 28,835,088	R211C	probably damaging	Het
Klk15	T	A	7: 43,938,838	M190K	probably damaging	Het
Klri1	A	G	6: 129,717,047	S26P	possibly damaging	Het
Krt78	T	A	15: 101,950,967	D265V	probably damaging	Het
Lgr5	A	C	10: 115,462,702	I355S	probably damaging	Het
Lig3	T	A	11: 82,794,541	V595D	probably damaging	Het
Map2k6	A	C	11: 110,512,869		probably benign	Het
Mdm4	A	G	1: 132,994,547	S286P	probably benign	Het
Olfr320	A	G	11: 58,684,269	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,248,528	M114K	probably damaging	Het
Rdh13	C	T	7: 4,430,389		probably null	Het
Reg3g	T	A	6: 78,466,833	I131F	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc8a2	T	A	7: 16,158,893	F827I	probably damaging	Het
Slfn9	A	T	11: 82,987,374	C310S	probably damaging	Het
Sypl	A	G	12: 32,975,642	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,461,641	T82S	possibly damaging	Het
Trim28	T	A	7: 13,030,702	V782D	probably damaging	Het
Ttn	G	A	2: 76,744,898	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,427,570	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,632,082	N308K	probably benign	Het
Xdh	T	C	17: 73,900,280	E986G	probably benign	Het
Zfp770	T	C	2: 114,196,238	D450G	probably damaging	Het
Zw10	T	G	9: 49,069,615	S438R	probably benign	Het

Other mutations in Hsh2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Hsh2d	APN	8	72200619	missense	probably damaging	0.98
IGL01134:Hsh2d	APN	8	72193531	missense	probably damaging	0.96
IGL03324:Hsh2d	APN	8	72193512	missense	probably damaging	1.00
R0002:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0064:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0309:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0312:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0369:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0449:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0450:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0481:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0483:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0554:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0704:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0843:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0947:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0948:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0966:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R0967:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1051:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1055:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1076:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1105:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1108:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1144:Hsh2d	UTSW	8	72193592	splice site	probably benign
R1150:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1186:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1345:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1371:Hsh2d	UTSW	8	72196894	splice site	probably benign
R1400:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1419:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1430:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1514:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1551:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1691:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1857:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1859:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R1914:Hsh2d	UTSW	8	72193521	missense	probably damaging	1.00
R1915:Hsh2d	UTSW	8	72193521	missense	probably damaging	1.00
R1982:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R2050:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R2081:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R2105:Hsh2d	UTSW	8	72200646	missense	probably benign
R4077:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R4078:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R4823:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R4824:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
R4903:Hsh2d	UTSW	8	72193528	missense	probably benign
R4966:Hsh2d	UTSW	8	72193528	missense	probably benign
R6550:Hsh2d	UTSW	8	72198453	missense	probably benign
R7418:Hsh2d	UTSW	8	72196794	critical splice acceptor site	probably null
R7673:Hsh2d	UTSW	8	72200511	missense	probably benign	0.15
R7911:Hsh2d	UTSW	8	72196804	missense	probably damaging	1.00
Y4335:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
Y4336:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
Y4337:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01
Y4338:Hsh2d	UTSW	8	72200460	missense	probably benign	0.01

Posted On

2014-02-04