Mutagenetix > Incidental Mutation

Incidental Mutation 'R1105:Hsh2d'

98445

Institutional Source

Beutler Lab

Gene Symbol

Hsh2d

Ensembl Gene

ENSMUSG00000062007

Gene Name

hematopoietic SH2 domain containing

Synonyms

Hsh2, ALX

MMRRC Submission

039178-MU

Accession Numbers

Essential gene?

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

Stock #

R1105 (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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Bcl6	G	T	16: 23,784,905 (GRCm39)	D698E	probably benign	Het
Catsperz	A	T	19: 6,902,303 (GRCm39)	Y64N	probably benign	Het
Clstn2	T	C	9: 97,465,552 (GRCm39)		probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Duox1	A	T	2: 122,168,183 (GRCm39)	T1103S	probably damaging	Het
Gcfc2	T	C	6: 81,916,434 (GRCm39)	S292P	probably damaging	Het
Hs3st1	GGTACAGGCTGCGGTTGAGAGCCTTGTA	GGTA	5: 39,772,041 (GRCm39)		probably benign	Het
Klk1b16	C	T	7: 43,788,937 (GRCm39)	R57C	probably damaging	Het
Mki67	T	C	7: 135,302,779 (GRCm39)	S752G	probably benign	Het
Ndrg1	T	A	15: 66,812,080 (GRCm39)	N204Y	probably damaging	Het
Ripk1	T	C	13: 34,212,150 (GRCm39)	Y487H	probably benign	Het
Rpl18a	T	C	8: 71,348,658 (GRCm39)	N77S	probably damaging	Het
Zik1	G	A	7: 10,224,312 (GRCm39)	R262C	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
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
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

2014-01-05