Mutagenetix > Incidental Mutation

Incidental Mutation 'R4966:Hsh2d'

384008

Institutional Source

Beutler Lab

Gene Symbol

Hsh2d

Ensembl Gene

ENSMUSG00000062007

Gene Name

hematopoietic SH2 domain containing

Synonyms

Hsh2, ALX

MMRRC Submission

042562-MU

Accession Numbers

Essential gene?

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

Stock #

R4966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72943512-72954802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72947372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 23 (A23V)

Ref Sequence

ENSEMBL: ENSMUSP00000127575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072097] [ENSMUST00000165324]

AlphaFold

Q6VYH9

Predicted Effect

probably benign
Transcript: ENSMUST00000072097
AA Change: A23V

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

SMART Domains

Protein: ENSMUSP00000071970
Gene: ENSMUSG00000062007
AA Change: A23V

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: ENSMUST00000165324
AA Change: A23V

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

SMART Domains

Protein: ENSMUSP00000127575
Gene: ENSMUSG00000062007
AA Change: A23V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.6%

Validation Efficiency

96% (94/98)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
Abcb5	T	A	12: 118,850,626 (GRCm39)		probably benign	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Actn1	T	C	12: 80,219,904 (GRCm39)	I656V	probably benign	Het
Arhgef15	A	G	11: 68,838,143 (GRCm39)	V659A	probably benign	Het
AW551984	T	C	9: 39,508,472 (GRCm39)	E348G	possibly damaging	Het
Bbs2	A	T	8: 94,807,435 (GRCm39)	V453E	probably damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cyld	A	G	8: 89,468,929 (GRCm39)	I567V	possibly damaging	Het
Dact3	G	C	7: 16,620,013 (GRCm39)	V503L	unknown	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drc7	G	A	8: 95,798,224 (GRCm39)	E490K	probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Fgfr1	C	A	8: 26,062,461 (GRCm39)	Y665*	probably null	Het
G2e3	A	G	12: 51,418,413 (GRCm39)	I603V	probably benign	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gpr45	A	G	1: 43,072,280 (GRCm39)	T308A	probably benign	Het
Grm1	T	A	10: 10,595,409 (GRCm39)	K740*	probably null	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Ino80c	T	C	18: 24,239,702 (GRCm39)	D153G	probably damaging	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Myf5	A	T	10: 107,321,733 (GRCm39)	C20*	probably null	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo5c	T	C	9: 75,176,878 (GRCm39)	S608P	probably benign	Het
Myo9a	A	G	9: 59,779,017 (GRCm39)	D1591G	probably benign	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nlgn1	C	T	3: 25,974,401 (GRCm39)	G165D	possibly damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Nup205	G	A	6: 35,220,784 (GRCm39)	R1862H	probably benign	Het
Nup210l	A	G	3: 90,014,208 (GRCm39)	H65R	probably benign	Het
Or2y16	A	G	11: 49,334,945 (GRCm39)	D89G	possibly damaging	Het
Or9k7	A	T	10: 130,046,306 (GRCm39)	M231K	probably benign	Het
Pcmtd1	C	A	1: 7,231,233 (GRCm39)	Y176*	probably null	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Polr1e	G	A	4: 45,029,429 (GRCm39)	A297T	probably damaging	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rdx	T	C	9: 51,986,309 (GRCm39)	V372A	probably benign	Het
Reep6	T	A	10: 80,169,633 (GRCm39)	F107Y	probably benign	Het
Rere	G	T	4: 150,698,273 (GRCm39)		probably benign	Het
Rmdn2	G	T	17: 79,974,304 (GRCm39)	A266S	probably damaging	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Rnpepl1	A	T	1: 92,844,483 (GRCm39)	N325I	probably damaging	Het
Rps6ka5	T	A	12: 100,519,325 (GRCm39)	M763L	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3j	T	A	12: 104,286,043 (GRCm39)	C399*	probably null	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sim2	T	C	16: 93,924,280 (GRCm39)	V475A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Snrnp25	A	G	11: 32,157,595 (GRCm39)	K58E	probably damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tm2d3	A	G	7: 65,347,469 (GRCm39)	N101S	possibly damaging	Het
Tmem201	G	T	4: 149,803,144 (GRCm39)	Q575K	probably benign	Het
Tmem241	A	G	18: 12,237,176 (GRCm39)	S87P	probably damaging	Het
Trak2	G	A	1: 58,958,480 (GRCm39)	T267I	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttk	T	A	9: 83,747,201 (GRCm39)	I680N	probably benign	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Tulp4	G	A	17: 6,249,088 (GRCm39)	E36K	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Vmn2r67	A	T	7: 84,785,593 (GRCm39)	V804E	probably damaging	Het
Wdr81	T	A	11: 75,336,775 (GRCm39)	Q1538L	probably benign	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	probably benign	Het
Zmat4	T	C	8: 24,392,085 (GRCm39)	S83P	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
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
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'- TAGTCACCAGGAAGCAAGTCTG -3'
(R):5'- TAACTGATATTGGTTTGAACAGGGG -3'

Sequencing Primer
(F):5'- TGTGTCCACAGGAATTGCC -3'
(R):5'- TTTGAACAGGGGGCCCC -3'

Posted On

2016-04-27