Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Hsh2d'

230879

Institutional Source

Beutler Lab

Gene Symbol

Hsh2d

Ensembl Gene

ENSMUSG00000062007

Gene Name

hematopoietic SH2 domain containing

Synonyms

ALX, Hsh2

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

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

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72189638-72201527 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72200646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 291 (F291I)

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: F291I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071970
Gene: ENSMUSG00000062007
AA Change: F291I

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: F291I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127575
Gene: ENSMUSG00000062007
AA Change: F291I

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,673,500	P1189L	probably benign	Het
Acbd4	G	A	11: 103,104,439	D57N	probably damaging	Het
Acot4	A	T	12: 84,038,742	M78L	probably damaging	Het
Ago1	A	T	4: 126,461,788	M76K	probably benign	Het
Agrn	G	T	4: 156,177,299	Y511*	probably null	Het
Arhgef15	A	T	11: 68,947,681		probably null	Het
Atp1a3	A	T	7: 24,989,853	M594K	probably damaging	Het
Atp4a	G	A	7: 30,720,368		probably null	Het
Bckdk	T	A	7: 127,907,317	I272N	probably damaging	Het
Bod1l	A	G	5: 41,832,279	V367A	probably benign	Het
C1galt1c1	T	C	X: 38,631,268	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,229,597	C4*	probably null	Het
Cfap53	T	C	18: 74,283,223	V9A	possibly damaging	Het
Chil3	T	C	3: 106,160,478	I124V	possibly damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Cyp2c67	T	C	19: 39,626,237	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,613,449	A1201T	probably benign	Het
Dock4	A	G	12: 40,692,989	H381R	probably benign	Het
Drc1	C	T	5: 30,356,441	S447F	probably benign	Het
Fam83g	G	T	11: 61,703,458	R606L	probably benign	Het
Fmnl1	A	C	11: 103,194,692	S688R	probably benign	Het
Fryl	C	T	5: 73,122,299	V219I	probably benign	Het
Gm13101	A	T	4: 143,965,820	Y204N	probably benign	Het
Golgb1	T	A	16: 36,914,664	N1424K	probably benign	Het
Gpr39	T	C	1: 125,677,884	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,040,517	Y274N	probably benign	Het
Hif1a	T	A	12: 73,937,745	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,000,204	M787K	probably damaging	Het
Hipk3	T	C	2: 104,439,392	E484G	probably damaging	Het
Ino80	T	C	2: 119,431,929	E692G	probably null	Het
Itgam	T	A	7: 128,081,712	V271D	probably damaging	Het
Kansl1	A	C	11: 104,335,559	I924S	probably damaging	Het
Kcnq2	A	G	2: 181,081,352	C628R	probably benign	Het
Krt78	A	C	15: 101,947,414	V654G	possibly damaging	Het
Lrit2	A	G	14: 37,071,956	T326A	probably damaging	Het
Ltk	T	C	2: 119,752,088	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,134,974	L53S	probably damaging	Het
Mc4r	T	C	18: 66,859,598	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,888,705	Q172*	probably null	Het
Mknk2	A	G	10: 80,668,601	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,325,747	H167L	probably benign	Het
Myc	T	C	15: 61,988,102	V208A	probably damaging	Het
Myh7b	A	G	2: 155,629,457	E1175G	probably benign	Het
Myo18a	A	T	11: 77,850,234	M1456L	probably benign	Het
Myocd	G	A	11: 65,218,658	Q96*	probably null	Het
Nckap5	T	A	1: 126,026,518	I766F	probably damaging	Het
Ndst1	T	C	18: 60,691,253	E784G	probably benign	Het
Nf1	A	T	11: 79,469,826	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,453,651	W228R	probably damaging	Het
Nup107	G	A	10: 117,773,320	T378I	probably damaging	Het
Olfr1033	C	T	2: 86,041,330	T5I	probably damaging	Het
Olfr1131	A	G	2: 87,628,939	T159A	probably benign	Het
Olfr293	A	T	7: 86,664,383	K240N	probably damaging	Het
Olfr524	T	A	7: 140,202,743	D9V	probably benign	Het
Olfr607	T	A	7: 103,460,273		probably null	Het
Olfr98	A	T	17: 37,263,073	M197K	probably benign	Het
Otop1	A	G	5: 38,300,458	D520G	probably benign	Het
Papln	C	T	12: 83,780,236	P712S	probably benign	Het
Pcbd2	T	A	13: 55,733,033	I34N	probably damaging	Het
Pkd1l3	T	A	8: 109,647,573	C29*	probably null	Het
Pou5f1	G	A	17: 35,510,002	V114M	probably benign	Het
Prpf4b	C	A	13: 34,884,231		probably benign	Het
Prr23a1	C	T	9: 98,842,656	P24S	probably damaging	Het
Ptch1	T	A	13: 63,545,245	M65L	probably benign	Het
Rc3h2	A	T	2: 37,399,624	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Ryr1	G	T	7: 29,090,150	T1513K	probably damaging	Het
Sacs	A	G	14: 61,173,441	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,568,183	S28P	probably benign	Het
Scrn3	A	G	2: 73,329,852	M280V	probably damaging	Het
Snx29	C	T	16: 11,511,034	T559I	possibly damaging	Het
Spn	C	T	7: 127,136,241	E109K	probably damaging	Het
Sra1	C	T	18: 36,675,068	R369H	probably benign	Het
Srsf11	C	T	3: 158,019,345	A64T	probably damaging	Het
Stk17b	A	G	1: 53,776,605	S12P	probably benign	Het
Sult1d1	C	A	5: 87,559,802	G153V	probably damaging	Het
Sycp2	A	T	2: 178,350,138		probably null	Het
Tgfb3	T	C	12: 86,069,769	E165G	possibly damaging	Het
Tns2	C	A	15: 102,107,506	H160N	probably benign	Het
Ubn1	T	A	16: 5,077,224	C711*	probably null	Het
Usp13	A	T	3: 32,901,986	D469V	probably damaging	Het
Vmn1r231	A	T	17: 20,890,118	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,772,793	S183P	probably damaging	Het
Xpo7	A	G	14: 70,690,991	I424T	probably benign	Het
Zfp109	A	G	7: 24,236,616		probably null	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
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
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'- ACCTGTTGGCCATGAACCTG -3'
(R):5'- TTCTCTGGCTGTGAGGACAAGG -3'

Sequencing Primer
(F):5'- CATGAACCTGCTGGGGGATG -3'
(R):5'- CTGTGAGGACAAGGATGGGGAC -3'

Posted On

2014-09-18