Mutagenetix > Incidental Mutation

Incidental Mutation 'R1950:Gzma'

217236

Institutional Source

Beutler Lab

Gene Symbol

Gzma

Ensembl Gene

ENSMUSG00000023132

Gene Name

granzyme A

Synonyms

Ctla3, Hf, Hanukah factor, H factor, BLT esterase, TSP1, Ctla-3, SE1, TSP-1, serine esterase 1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113230359-113237515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113230463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 246 (L246P)

Ref Sequence

ENSEMBL: ENSMUSP00000153593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023897] [ENSMUST00000109244] [ENSMUST00000181117] [ENSMUST00000181568] [ENSMUST00000224282]

AlphaFold

P11032

Predicted Effect

probably damaging
Transcript: ENSMUST00000023897
AA Change: L249P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023897
Gene: ENSMUSG00000023132
AA Change: L249P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Tryp_SPc	28	252	1.1e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109244

SMART Domains

Protein: ENSMUSP00000104867
Gene: ENSMUSG00000078926

Domain	Start	End	E-Value	Type
low complexity region	85	97	N/A	INTRINSIC
WD40	218	257	6.6e1	SMART
WD40	266	301	5.75e-1	SMART
WD40	304	341	9.24e-1	SMART
WD40	345	383	9.02e-7	SMART
WD40	391	432	3.55e1	SMART
WD40	473	517	2.01e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000181117

SMART Domains

Protein: ENSMUSP00000137915
Gene: ENSMUSG00000078926

Domain	Start	End	E-Value	Type
low complexity region	85	97	N/A	INTRINSIC
WD40	218	257	6.6e1	SMART
WD40	266	301	5.75e-1	SMART
WD40	304	341	9.24e-1	SMART
WD40	345	383	9.02e-7	SMART
WD40	391	432	3.55e1	SMART
WD40	473	513	1.78e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000181568

SMART Domains

Protein: ENSMUSP00000137849
Gene: ENSMUSG00000078926

Domain	Start	End	E-Value	Type
low complexity region	85	97	N/A	INTRINSIC
WD40	218	257	6.6e1	SMART
WD40	266	301	5.75e-1	SMART
WD40	304	341	9.24e-1	SMART
WD40	345	383	9.02e-7	SMART
WD40	431	475	2.01e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000224282
AA Change: L246P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
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.] Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show normal T/NK cell-mediated cytotoxicity, recovery from LCM virus or L. monocytogenes infection, and control of syngeneic tumor growth. Homozygotes for a different null allele show defective CTL cytolysis and increased tumor burden upon challenge with RMAS cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,010,677 (GRCm39)	N478S	probably damaging	Het
Als2	T	A	1: 59,224,760 (GRCm39)		probably null	Het
Ankfy1	A	G	11: 72,651,155 (GRCm39)	Y1035C	probably damaging	Het
Ankrd11	T	C	8: 123,616,608 (GRCm39)	T2394A	probably damaging	Het
Axin1	G	C	17: 26,412,938 (GRCm39)	G780R	possibly damaging	Het
Carm1	A	T	9: 21,485,812 (GRCm39)	T127S	probably benign	Het
Ccdc73	T	C	2: 104,757,280 (GRCm39)	I81T	probably benign	Het
Cdh12	T	C	15: 21,237,965 (GRCm39)	Y67H	probably damaging	Het
Cfap65	C	A	1: 74,946,819 (GRCm39)	G1297V	probably damaging	Het
Cfap74	T	C	4: 155,511,887 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,078,968 (GRCm39)	Y426C	probably damaging	Het
Clpp	A	G	17: 57,303,039 (GRCm39)		probably benign	Het
Clrn3	T	G	7: 135,115,813 (GRCm39)	Y179S	possibly damaging	Het
Cntn5	A	C	9: 9,781,774 (GRCm39)	M635R	probably damaging	Het
Col12a1	A	T	9: 79,537,831 (GRCm39)	S2546T	possibly damaging	Het
Ctla2b	T	C	13: 61,043,863 (GRCm39)	N102S	possibly damaging	Het
Cwf19l2	A	T	9: 3,418,674 (GRCm39)	I154F	probably benign	Het
Dffa	C	A	4: 149,188,839 (GRCm39)	S44R	probably benign	Het
Ehbp1	T	A	11: 22,009,228 (GRCm39)	K930M	probably damaging	Het
Erc2	T	A	14: 27,634,857 (GRCm39)	S473T	probably damaging	Het
Fbxw24	A	T	9: 109,434,481 (GRCm39)	L373H	probably benign	Het
Fer1l4	T	C	2: 155,890,194 (GRCm39)	I244V	probably damaging	Het
Fgfr2	G	A	7: 129,800,211 (GRCm39)	T245M	probably damaging	Het
Garin1b	C	T	6: 29,335,815 (GRCm39)		probably null	Het
Gbp9	T	A	5: 105,229,112 (GRCm39)	M512L	probably benign	Het
Glg1	T	A	8: 111,892,271 (GRCm39)	K251I	possibly damaging	Het
Gm10553	A	G	1: 85,078,141 (GRCm39)	D86G	possibly damaging	Het
Gm5622	T	C	14: 51,893,229 (GRCm39)	V52A	probably benign	Het
Gucy1b1	A	G	3: 81,952,716 (GRCm39)	V239A	probably benign	Het
Hibadh	C	A	6: 52,533,448 (GRCm39)	A223S	probably benign	Het
Hydin	C	A	8: 111,336,619 (GRCm39)	T5132N	possibly damaging	Het
Insrr	A	G	3: 87,721,820 (GRCm39)	N1198S	probably damaging	Het
Ivl	T	C	3: 92,479,420 (GRCm39)	E215G	possibly damaging	Het
Jmjd1c	A	G	10: 67,075,701 (GRCm39)	D2037G	possibly damaging	Het
Kcna3	G	A	3: 106,944,988 (GRCm39)	C417Y	probably damaging	Het
Klra2	T	C	6: 131,207,078 (GRCm39)	N177S	probably benign	Het
Llgl2	T	C	11: 115,741,892 (GRCm39)	S645P	probably damaging	Het
Lrrc15	T	C	16: 30,092,649 (GRCm39)	E230G	probably benign	Het
Magel2	C	A	7: 62,028,163 (GRCm39)	Q356K	possibly damaging	Het
Mcm6	A	G	1: 128,273,726 (GRCm39)	V368A	probably benign	Het
Myh8	G	A	11: 67,169,830 (GRCm39)	V50M	possibly damaging	Het
Myrf	A	T	19: 10,195,554 (GRCm39)	F419I	possibly damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or10ak16	G	A	4: 118,750,537 (GRCm39)	V86M	probably benign	Het
Or52i2	A	G	7: 102,319,684 (GRCm39)	M186V	probably benign	Het
Otud4	G	A	8: 80,372,961 (GRCm39)	R93H	probably damaging	Het
Pank4	T	A	4: 155,056,977 (GRCm39)	M390K	probably benign	Het
Pecam1	A	G	11: 106,576,029 (GRCm39)	V401A	probably damaging	Het
Prdm6	C	A	18: 53,669,796 (GRCm39)	T138K	possibly damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prpf8	A	G	11: 75,387,337 (GRCm39)	E1206G	possibly damaging	Het
Prr30	A	T	14: 101,435,377 (GRCm39)	I395N	probably benign	Het
Rab27a	G	A	9: 72,982,751 (GRCm39)	G19R	probably damaging	Het
Ramacl	A	G	13: 67,055,269 (GRCm39)		probably benign	Het
Rrp12	A	G	19: 41,881,029 (GRCm39)	V134A	probably damaging	Het
Scly	A	G	1: 91,233,116 (GRCm39)	T76A	probably benign	Het
Scube3	T	C	17: 28,383,274 (GRCm39)	S439P	possibly damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sipa1l1	T	C	12: 82,388,233 (GRCm39)	F153S	probably damaging	Het
Slc25a30	T	G	14: 76,007,007 (GRCm39)	K163T	possibly damaging	Het
Slc26a8	T	A	17: 28,863,614 (GRCm39)	D715V	probably benign	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Smr2	C	CT	5: 88,256,685 (GRCm39)		probably null	Het
Sp6	T	G	11: 96,912,940 (GRCm39)	S218A	probably benign	Het
Spata21	T	C	4: 140,838,716 (GRCm39)	V589A	probably damaging	Het
Sycp2	T	C	2: 178,044,593 (GRCm39)	I71V	probably benign	Het
Syne2	G	T	12: 75,999,644 (GRCm39)	G2347C	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Thbs4	A	T	13: 92,906,079 (GRCm39)	N387K	probably damaging	Het
Tmem184a	T	C	5: 139,793,381 (GRCm39)	D216G	probably damaging	Het
Tprg1	T	A	16: 25,136,098 (GRCm39)	S30T	possibly damaging	Het
Trip12	A	T	1: 84,738,522 (GRCm39)	W778R	probably damaging	Het
Ttpa	T	C	4: 20,008,633 (GRCm39)	L65P	probably damaging	Het
Ush2a	A	T	1: 188,487,382 (GRCm39)	N3050I	probably damaging	Het
Xpot	T	C	10: 121,455,053 (GRCm39)	I30V	probably benign	Het
Zfp944	A	G	17: 22,558,681 (GRCm39)	S189P	probably benign	Het
Zftraf1	A	G	15: 76,543,417 (GRCm39)		probably null	Het

Other mutations in Gzma

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Gzma	APN	13	113,230,418 (GRCm39)	utr 3 prime	probably benign
R0965:Gzma	UTSW	13	113,234,868 (GRCm39)	missense	probably damaging	1.00
R1411:Gzma	UTSW	13	113,232,742 (GRCm39)	missense	probably benign	0.13
R1597:Gzma	UTSW	13	113,232,331 (GRCm39)	missense	probably damaging	1.00
R1838:Gzma	UTSW	13	113,232,518 (GRCm39)	missense	probably damaging	0.99
R4153:Gzma	UTSW	13	113,232,802 (GRCm39)	missense	possibly damaging	0.92
R4389:Gzma	UTSW	13	113,234,922 (GRCm39)	splice site	probably null
R5370:Gzma	UTSW	13	113,232,329 (GRCm39)	missense	probably damaging	1.00
R5643:Gzma	UTSW	13	113,234,794 (GRCm39)	missense	probably damaging	1.00
R5644:Gzma	UTSW	13	113,234,794 (GRCm39)	missense	probably damaging	1.00
R7771:Gzma	UTSW	13	113,234,829 (GRCm39)	missense	probably damaging	1.00
R7798:Gzma	UTSW	13	113,232,858 (GRCm39)	missense	probably benign	0.06
R8420:Gzma	UTSW	13	113,237,464 (GRCm39)	missense	probably benign	0.00
R9079:Gzma	UTSW	13	113,232,858 (GRCm39)	missense	probably benign	0.02
R9165:Gzma	UTSW	13	113,237,455 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATGCTCAGAGGACACTGGTG -3'
(R):5'- GTCTGGTCTGCCTATTAAATGC -3'

Sequencing Primer
(F):5'- AGAGGACACTGGTGGTCCTG -3'
(R):5'- CTGGTCTGCCTATTAAATGCTACAG -3'

Posted On

2014-08-01