Mutagenetix > Incidental Mutation

Incidental Mutation 'R0483:Hsh2d'

42121

Institutional Source

Beutler Lab

Gene Symbol

Hsh2d

Ensembl Gene

ENSMUSG00000062007

Gene Name

hematopoietic SH2 domain containing

Synonyms

Hsh2, ALX

MMRRC Submission

038683-MU

Accession Numbers

Essential gene?

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

Stock #

R0483 (G1)

Quality Score

225

Status

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: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (89/90)

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
1500009L16Rik	G	A	10: 83,595,502 (GRCm39)		probably benign	Het
1700048O20Rik	A	T	9: 121,769,769 (GRCm39)		noncoding transcript	Het
AA986860	A	G	1: 130,671,562 (GRCm39)	R595G	probably damaging	Het
Acrbp	C	A	6: 125,031,759 (GRCm39)	F353L	possibly damaging	Het
Adamts20	T	A	15: 94,251,452 (GRCm39)	Q445L	probably benign	Het
Adgrg5	A	G	8: 95,660,136 (GRCm39)	D26G	possibly damaging	Het
Atad2b	A	T	12: 4,995,035 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,306,631 (GRCm39)	G1439C	probably damaging	Het
Atg2a	G	T	19: 6,306,632 (GRCm39)	G1439V	probably benign	Het
B3galt1	G	A	2: 67,948,932 (GRCm39)	V216I	probably benign	Het
Bmerb1	T	C	16: 13,913,803 (GRCm39)	*113R	probably null	Het
C2cd2	A	G	16: 97,660,788 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,564,025 (GRCm39)	V884M	probably damaging	Het
Cers5	C	A	15: 99,643,795 (GRCm39)	C22F	probably damaging	Het
Ces1d	C	A	8: 93,924,307 (GRCm39)	C14F	probably benign	Het
Cntn3	G	T	6: 102,180,927 (GRCm39)	P756Q	probably damaging	Het
Col4a1	T	C	8: 11,286,423 (GRCm39)		probably benign	Het
Col5a3	A	G	9: 20,693,777 (GRCm39)		probably null	Het
Cox5b	G	A	1: 36,731,636 (GRCm39)		probably null	Het
Cwc27	C	A	13: 104,947,724 (GRCm39)		probably null	Het
Cyp27b1	A	C	10: 126,886,026 (GRCm39)	M260L	probably benign	Het
Ddx19b	A	T	8: 111,735,310 (GRCm39)	N465K	probably benign	Het
Depdc1b	T	C	13: 108,510,382 (GRCm39)	V298A	probably benign	Het
Dnaaf1	A	G	8: 120,317,405 (GRCm39)	I311M	possibly damaging	Het
Dnah17	T	C	11: 117,937,950 (GRCm39)	N3372S	probably benign	Het
Dus4l	G	A	12: 31,691,656 (GRCm39)	T184I	possibly damaging	Het
Dzip3	T	C	16: 48,768,076 (GRCm39)	K453E	possibly damaging	Het
Fhod3	C	T	18: 24,842,673 (GRCm39)	T3M	probably damaging	Het
Galnt10	T	C	11: 57,672,048 (GRCm39)	L446P	probably damaging	Het
Gfod1	T	A	13: 43,354,012 (GRCm39)	D321V	possibly damaging	Het
Glt8d2	C	A	10: 82,497,987 (GRCm39)		probably benign	Het
Gm11115	A	G	5: 88,301,948 (GRCm39)	M4T	unknown	Het
Gm11568	G	A	11: 99,749,209 (GRCm39)	C138Y	unknown	Het
Gm57859	C	T	11: 113,580,021 (GRCm39)	T472I	possibly damaging	Het
Gm9742	A	G	13: 8,085,052 (GRCm39)		noncoding transcript	Het
Gnrhr	G	T	5: 86,345,434 (GRCm39)	T84N	probably damaging	Het
Gpr176	C	A	2: 118,110,204 (GRCm39)	G352W	probably damaging	Het
Habp2	T	C	19: 56,304,864 (GRCm39)		probably benign	Het
Inpp5j	C	G	11: 3,449,738 (GRCm39)	W681C	probably damaging	Het
Insl6	A	G	19: 29,298,968 (GRCm39)	M148T	probably benign	Het
Itgb1	T	G	8: 129,452,648 (GRCm39)	M771R	possibly damaging	Het
Kank1	G	T	19: 25,403,357 (GRCm39)		probably benign	Het
Kcnd3	T	C	3: 105,366,942 (GRCm39)	Y271H	probably damaging	Het
Kcnq4	C	A	4: 120,573,798 (GRCm39)	R221L	probably damaging	Het
Klk1b26	G	A	7: 43,665,772 (GRCm39)	V195I	probably benign	Het
Lactb	A	C	9: 66,878,145 (GRCm39)	V228G	possibly damaging	Het
Ldb3	T	C	14: 34,258,541 (GRCm39)	D649G	probably damaging	Het
Lilra6	T	A	7: 3,916,138 (GRCm39)	R240S	probably benign	Het
Lrp2	A	G	2: 69,338,145 (GRCm39)	Y1212H	probably damaging	Het
Mapk8ip1	A	T	2: 92,216,321 (GRCm39)		probably null	Het
Mctp1	C	T	13: 76,975,846 (GRCm39)	L483F	probably damaging	Het
Mmp16	T	C	4: 18,115,878 (GRCm39)		probably benign	Het
Mphosph9	A	T	5: 124,445,033 (GRCm39)	L360*	probably null	Het
Myh4	A	G	11: 67,143,123 (GRCm39)	E1017G	probably damaging	Het
Nell1	A	T	7: 49,879,928 (GRCm39)	M307L	probably benign	Het
Or10al3	C	T	17: 38,012,188 (GRCm39)	A209V	probably benign	Het
Or10d1	A	C	9: 39,484,139 (GRCm39)	C139G	probably damaging	Het
Or5m11	A	G	2: 85,781,587 (GRCm39)	Y60C	probably damaging	Het
Or8k35	A	G	2: 86,424,752 (GRCm39)	V140A	probably benign	Het
Phc2	A	G	4: 128,617,100 (GRCm39)		probably benign	Het
Pp2d1	C	A	17: 53,814,999 (GRCm39)	C575F	probably benign	Het
Ptpra	T	A	2: 130,381,605 (GRCm39)	N364K	probably damaging	Het
R3hcc1l	A	G	19: 42,550,995 (GRCm39)		probably benign	Het
Rims1	A	G	1: 22,507,263 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,427,442 (GRCm39)		probably benign	Het
Sit1	T	A	4: 43,482,991 (GRCm39)	Q86L	possibly damaging	Het
Skint4	C	A	4: 111,975,136 (GRCm39)		probably benign	Het
Skint8	G	T	4: 111,796,020 (GRCm39)		probably benign	Het
Smim13	T	C	13: 41,426,186 (GRCm39)	I74T	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Speg	A	G	1: 75,361,676 (GRCm39)	E230G	possibly damaging	Het
Spmap2l	A	G	5: 77,185,204 (GRCm39)		probably benign	Het
Srpra	A	G	9: 35,127,291 (GRCm39)	T614A	possibly damaging	Het
Synpo2	T	C	3: 122,907,981 (GRCm39)	D445G	probably damaging	Het
Tas2r102	A	T	6: 132,739,328 (GRCm39)	I79F	probably damaging	Het
Tmc4	A	G	7: 3,670,609 (GRCm39)	L494P	probably damaging	Het
Togaram1	G	T	12: 65,053,805 (GRCm39)	V1412F	probably damaging	Het
Topors	T	C	4: 40,261,952 (GRCm39)	D444G	probably damaging	Het
Trappc8	T	A	18: 20,978,658 (GRCm39)	I813F	possibly damaging	Het
Trim26	T	C	17: 37,163,598 (GRCm39)		probably benign	Het
Unc13a	T	C	8: 72,097,557 (GRCm39)	D1171G	probably damaging	Het
Usp7	A	G	16: 8,517,126 (GRCm39)	V245A	probably damaging	Het
Vmn1r38	T	A	6: 66,753,979 (GRCm39)	T46S	probably benign	Het
Vmn2r76	T	C	7: 85,874,959 (GRCm39)	T673A	probably damaging	Het
Zcchc14	T	A	8: 122,355,388 (GRCm39)		probably benign	Het
Zfp451	T	A	1: 33,809,991 (GRCm39)		probably benign	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
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
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

2013-05-23