Mutagenetix > Incidental Mutation

Incidental Mutation 'R0966:Hsh2d'

84058

Institutional Source

Beutler Lab

Gene Symbol

Hsh2d

Ensembl Gene

ENSMUSG00000062007

Gene Name

hematopoietic SH2 domain containing

Synonyms

Hsh2, ALX

MMRRC Submission

039095-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R0966 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72943512-72954802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72954304 bp (GRCm39)

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: 98.7%
10x: 96.8%
20x: 94.0%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	A	16: 88,504,310 (GRCm39)	R162S	probably damaging	Het
Arhgef10	T	G	8: 14,990,343 (GRCm39)	S272A	probably benign	Het
Cd101	A	C	3: 100,915,538 (GRCm39)	S676R	probably benign	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
Flrt2	T	C	12: 95,747,075 (GRCm39)	V471A	possibly damaging	Het
Fzd8	A	T	18: 9,214,745 (GRCm39)	E609V	probably damaging	Het
Gm10110	A	C	14: 90,135,555 (GRCm39)		noncoding transcript	Het
Igf2bp2	C	T	16: 21,907,840 (GRCm39)	R19Q	probably damaging	Het
Mmp16	C	G	4: 18,115,930 (GRCm39)	N511K	probably benign	Het
Myo7b	T	C	18: 32,131,816 (GRCm39)	H460R	probably damaging	Het
Or52a5	T	A	7: 103,426,656 (GRCm39)	T299S	probably damaging	Het
Plekhh1	T	C	12: 79,112,504 (GRCm39)	F594L	probably damaging	Het
Prkca	T	A	11: 107,905,110 (GRCm39)	K209N	possibly damaging	Het
Slc5a2	G	C	7: 127,869,803 (GRCm39)	R412P	probably damaging	Het
Slco1a7	A	G	6: 141,673,299 (GRCm39)	F413S	probably benign	Het
Ugt1a6b	G	A	1: 88,034,850 (GRCm39)	V63I	probably benign	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Vps36	G	A	8: 22,696,833 (GRCm39)	W131*	probably null	Het
Wdr3	A	T	3: 100,068,385 (GRCm39)	V41E	probably damaging	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
IGL03324:Hsh2d	APN	8	72,947,356 (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
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

Predicted Primers

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

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

Posted On

2013-11-08