Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03324:Hsh2d'

416588

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsh2d

Ensembl Gene

ENSMUSG00000062007

Gene Name

hematopoietic SH2 domain containing

Synonyms

Hsh2, ALX

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL03324

Quality Score

Status

Chromosome

Chromosomal Location

72943512-72954802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72947356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 18 (F18L)

Ref Sequence

ENSEMBL: ENSMUSP00000127575 (fasta)

Gene Model

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

AlphaFold

Q6VYH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000072097
AA Change: F18L

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

SMART Domains

Protein: ENSMUSP00000071970
Gene: ENSMUSG00000062007
AA Change: F18L

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: F18L

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

SMART Domains

Protein: ENSMUSP00000127575
Gene: ENSMUSG00000062007
AA Change: F18L

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,982,261 (GRCm39)	E282G	probably benign	Het
Abca12	T	A	1: 71,353,167 (GRCm39)	K758N	probably benign	Het
Acacb	A	T	5: 114,363,915 (GRCm39)	R1459*	probably null	Het
Aco1	A	G	4: 40,186,363 (GRCm39)	T592A	probably benign	Het
Aldh2	C	T	5: 121,713,188 (GRCm39)	G256D	probably benign	Het
Apbb2	A	T	5: 66,469,500 (GRCm39)		probably null	Het
Apoe	A	T	7: 19,430,462 (GRCm39)	I260K	probably benign	Het
Cep89	G	A	7: 35,124,078 (GRCm39)		probably benign	Het
Coq3	A	G	4: 21,900,361 (GRCm39)	D196G	probably benign	Het
Crispld2	C	T	8: 120,742,110 (GRCm39)	R153W	probably damaging	Het
Enox1	A	G	14: 77,852,925 (GRCm39)	E397G	probably damaging	Het
Gpatch1	A	G	7: 34,998,705 (GRCm39)	Y342H	probably damaging	Het
Gpatch1	T	A	7: 34,993,120 (GRCm39)	E575V	possibly damaging	Het
Grid2	T	C	6: 64,406,806 (GRCm39)	V722A	possibly damaging	Het
Htra2	C	T	6: 83,030,737 (GRCm39)	D190N	probably damaging	Het
Lrfn2	A	G	17: 49,377,915 (GRCm39)	N332S	probably damaging	Het
Naa10	C	T	X: 72,963,568 (GRCm39)		probably null	Het
Nlrp4f	T	C	13: 65,343,042 (GRCm39)	E179G	possibly damaging	Het
Or13p10	T	A	4: 118,523,069 (GRCm39)	F118L	probably benign	Het
Or14j1	G	A	17: 38,146,165 (GRCm39)	G92S	probably benign	Het
Or4c111	A	T	2: 88,843,903 (GRCm39)	C168*	probably null	Het
Prss46	T	A	9: 110,678,747 (GRCm39)	N46K	probably benign	Het
Rep15	A	C	6: 146,934,163 (GRCm39)	M1L	possibly damaging	Het
Slc10a4	G	T	5: 73,169,286 (GRCm39)	A105S	probably damaging	Het
Slc26a9	A	T	1: 131,691,748 (GRCm39)	T664S	probably damaging	Het
Stxbp3-ps	A	T	19: 9,535,714 (GRCm39)		noncoding transcript	Het
Tmf1	C	A	6: 97,140,614 (GRCm39)	R754L	probably damaging	Het
Xcr1	T	A	9: 123,685,549 (GRCm39)	Y71F	probably benign	Het
Yars1	C	T	4: 129,104,328 (GRCm39)	T324I	probably benign	Het
Zfp106	A	G	2: 120,365,868 (GRCm39)	S180P	probably benign	Het

Other mutations in Hsh2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Hsh2d	APN	8	72,954,463 (GRCm39)	missense	probably damaging	0.98
IGL01134:Hsh2d	APN	8	72,947,375 (GRCm39)	missense	probably damaging	0.96
IGL01778:Hsh2d	APN	8	72,947,351 (GRCm39)	missense	probably damaging	1.00
R0002:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0064:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0309:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0312:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0369:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0449:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0450:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0481:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0483:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0554:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0704:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0843:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0947:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0948:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0966:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R0967:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1051:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1055:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1076:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1105:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1108:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1144:Hsh2d	UTSW	8	72,947,436 (GRCm39)	splice site	probably benign
R1150:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1186:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1345:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1371:Hsh2d	UTSW	8	72,950,738 (GRCm39)	splice site	probably benign
R1400:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1419:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1430:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1514:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1551:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1691:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1857:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1859:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R1914:Hsh2d	UTSW	8	72,947,365 (GRCm39)	missense	probably damaging	1.00
R1915:Hsh2d	UTSW	8	72,947,365 (GRCm39)	missense	probably damaging	1.00
R1982:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R2050:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R2081:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R2105:Hsh2d	UTSW	8	72,954,490 (GRCm39)	missense	probably benign
R4077:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R4078:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R4823:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R4824:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
R4903:Hsh2d	UTSW	8	72,947,372 (GRCm39)	missense	probably benign
R4966:Hsh2d	UTSW	8	72,947,372 (GRCm39)	missense	probably benign
R6550:Hsh2d	UTSW	8	72,952,297 (GRCm39)	missense	probably benign
R7418:Hsh2d	UTSW	8	72,950,638 (GRCm39)	critical splice acceptor site	probably null
R7673:Hsh2d	UTSW	8	72,954,355 (GRCm39)	missense	probably benign	0.15
R7911:Hsh2d	UTSW	8	72,950,648 (GRCm39)	missense	probably damaging	1.00
R8890:Hsh2d	UTSW	8	72,951,690 (GRCm39)	missense	probably damaging	1.00
R9032:Hsh2d	UTSW	8	72,954,385 (GRCm39)	missense	probably benign
Y4335:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
Y4336:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
Y4337:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01
Y4338:Hsh2d	UTSW	8	72,954,304 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02