Mutagenetix > Incidental Mutation

Incidental Mutation 'R1419:Hsh2d'

159992

Institutional Source

Beutler Lab

Gene Symbol

Hsh2d

Ensembl Gene

ENSMUSG00000062007

Gene Name

hematopoietic SH2 domain containing

Synonyms

ALX, Hsh2

MMRRC Submission

039475-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1419 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

72189638-72201527 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72200460 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 229 (D229N)

Ref Sequence

ENSEMBL: ENSMUSP00000127575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072097] [ENSMUST00000098630] [ENSMUST00000165324]

AlphaFold

Q6VYH9

Predicted Effect

probably benign
Transcript: ENSMUST00000072097
AA Change: D229N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000071970
Gene: ENSMUSG00000062007
AA Change: D229N

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 benign
Transcript: ENSMUST00000098630

SMART Domains

Protein: ENSMUSP00000096231
Gene: ENSMUSG00000074240

Domain	Start	End	E-Value	Type
EFh	43	71	3.97e1	SMART
EFh	80	108	4.32e1	SMART
EFh	121	149	1.57e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165324
AA Change: D229N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000127575
Gene: ENSMUSG00000062007
AA Change: D229N

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

noncoding transcript
Transcript: ENSMUST00000211946

Meta Mutation Damage Score

0.0865

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,374,902	M894K	probably benign	Het
Ablim1	C	A	19: 57,134,633	C173F	probably damaging	Het
Abtb2	G	T	2: 103,709,420	R710L	probably benign	Het
AI481877	T	C	4: 59,064,457	T826A	possibly damaging	Het
Arap3	T	C	18: 37,978,432	T1144A	possibly damaging	Het
Arhgef12	A	T	9: 43,027,220	V92D	probably damaging	Het
Ash1l	T	G	3: 88,984,897	M1361R	probably damaging	Het
Atm	A	C	9: 53,457,489	N2337K	probably benign	Het
Cog7	T	C	7: 121,955,992	E316G	probably damaging	Het
Dsp	A	G	13: 38,186,695	Y858C	probably damaging	Het
Enc1	G	T	13: 97,246,184	G401C	probably damaging	Het
Gata6	T	C	18: 11,064,706	V506A	probably benign	Het
Gm16380	C	T	9: 53,884,187		noncoding transcript	Het
H2-Ke6	G	A	17: 34,027,643	R89C	probably benign	Het
Ift80	T	A	3: 68,940,198	N322Y	probably damaging	Het
Igsf9	T	A	1: 172,498,011	V1082E	probably damaging	Het
Katnal2	A	T	18: 76,977,432	L481Q	possibly damaging	Het
Kcnma1	T	C	14: 23,367,642	T713A	probably damaging	Het
Kif13a	T	C	13: 46,825,235	T230A	probably damaging	Het
Klhl14	C	A	18: 21,652,193	R59L	probably damaging	Het
Mecom	A	G	3: 29,980,889	C213R	probably damaging	Het
Mrpl13	T	A	15: 55,534,321	M178L	probably benign	Het
Myof	T	C	19: 37,901,911	E1971G	probably damaging	Het
Naa10	A	G	X: 73,917,916	V133A	probably damaging	Het
Nlrp4g	G	A	9: 124,349,434		noncoding transcript	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1042	A	G	2: 86,159,429	*314Q	probably null	Het
Olfr1234	T	C	2: 89,363,322	T36A	probably damaging	Het
Olfr1297	A	T	2: 111,621,295	F260I	probably benign	Het
Oplah	T	C	15: 76,297,920	I1047V	probably benign	Het
Paip1	A	G	13: 119,457,017	D189G	probably damaging	Het
Pkn1	A	G	8: 83,673,522	F624L	probably damaging	Het
Plxnb1	C	A	9: 109,114,386	P1899H	probably damaging	Het
Rpa3	T	A	6: 8,257,720	E47D	probably benign	Het
Snai2	C	T	16: 14,708,180	H232Y	possibly damaging	Het
Spint5	T	C	2: 164,715,411	S23P	possibly damaging	Het
St8sia2	G	A	7: 73,966,994	Q78*	probably null	Het
Tktl2	A	G	8: 66,513,038	N416S	probably damaging	Het
Tm7sf3	T	A	6: 146,603,977	I494F	possibly damaging	Het
Trf	C	T	9: 103,226,108	V119M	probably damaging	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
IGL01778:Hsh2d	APN	8	72193507	missense	probably damaging	1.00
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
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
R8890:Hsh2d	UTSW	8	72197846	missense	probably damaging	1.00
R9032:Hsh2d	UTSW	8	72200541	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- CCACACTTGCAGTCCAACTGTGTC -3'
(R):5'- GCTTTGACCCCTGAGAATGCCTTC -3'

Sequencing Primer
(F):5'- GCTTCTGAAAGGAAGCCATC -3'
(R):5'- GAGAATGCCTTCCTCCAGC -3'

Posted On

2014-03-14