Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Hsh2d'

34406

Institutional Source

Beutler Lab

Gene Symbol

Hsh2d

Ensembl Gene

ENSMUSG00000062007

Gene Name

hematopoietic SH2 domain containing

Synonyms

ALX, Hsh2

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

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

Stock #

R0064 (G1)

Quality Score

225

Status

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	C	11: 110,144,871	L641R	probably damaging	Het
Abca9	G	T	11: 110,144,872	L641M	probably damaging	Het
Abhd18	A	G	3: 40,933,853	I377M	probably benign	Het
Arhgef17	C	A	7: 100,881,354	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,957,463	G138A	probably damaging	Het
C4b	A	G	17: 34,738,856	L617P	probably damaging	Het
Ccdc25	T	A	14: 65,854,112	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,345,077	D101G	probably benign	Het
Cdon	A	G	9: 35,489,227	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,182		probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Crlf3	A	G	11: 80,057,902	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,083,299	N78K	probably damaging	Het
Cul1	A	G	6: 47,502,415		probably benign	Het
D430041D05Rik	T	G	2: 104,249,157	T1194P	probably damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fbxw14	A	T	9: 109,287,592	Y16*	probably null	Het
Fgd3	T	G	13: 49,296,425	D116A	possibly damaging	Het
Gm7168	C	T	17: 13,949,859	T496I	probably benign	Het
Klhl5	T	A	5: 65,141,288	S137T	probably benign	Het
Knl1	T	A	2: 119,076,243	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,514,466	N463K	probably damaging	Het
Lpl	A	G	8: 68,892,704	H120R	probably damaging	Het
Man1a2	A	T	3: 100,591,883	S412T	possibly damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Myo18a	G	T	11: 77,847,344	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,964,087	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,294,670		probably benign	Het
Nutf2	A	G	8: 105,878,809	D92G	probably damaging	Het
Obscn	A	C	11: 59,027,466	V6260G	probably damaging	Het
Olfr320	G	A	11: 58,684,475	V201M	probably benign	Het
Olfr714	T	C	7: 107,074,280	F151L	probably benign	Het
Plce1	T	C	19: 38,780,784		probably null	Het
Pmpca	C	A	2: 26,395,507	D498E	probably benign	Het
Pnpla7	G	T	2: 24,997,227	E28*	probably null	Het
Polg	C	A	7: 79,461,884	W206C	probably damaging	Het
Ptprt	C	T	2: 161,927,791		probably benign	Het
Slc7a14	T	C	3: 31,227,060	D367G	probably damaging	Het
Spata31	T	C	13: 64,922,098	Y687H	probably damaging	Het
Sybu	T	A	15: 44,672,993	T646S	probably benign	Het
Thbs1	A	T	2: 118,123,914		probably null	Het
Tie1	A	G	4: 118,489,701	V2A	possibly damaging	Het
Tma16	A	T	8: 66,476,805	I179K	possibly damaging	Het
Tns3	G	A	11: 8,435,856	Q1381*	probably null	Het
Trank1	A	G	9: 111,343,195	D84G	probably damaging	Het
Ttc3	A	T	16: 94,422,247	H197L	possibly damaging	Het
Urb1	A	G	16: 90,779,140	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,956,018	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,104,788	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,572,072	I82L	probably benign	Het
Zfp287	A	T	11: 62,714,938	L370H	possibly damaging	Het
Zfp608	A	T	18: 54,898,816	I684N	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
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
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
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

2013-05-09