Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03220:Gzmd'

413599

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gzmd

Ensembl Gene

ENSMUSG00000059256

Gene Name

granzyme D

Synonyms

CCP5, Ctla5, Ctla-5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03220

Quality Score

Status

Chromosome

Chromosomal Location

56367013-56370060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56367886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 129 (V129E)

Ref Sequence

ENSEMBL: ENSMUSP00000080742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082093]

AlphaFold

P11033

Predicted Effect

probably damaging
Transcript: ENSMUST00000082093
AA Change: V129E

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

SMART Domains

Protein: ENSMUSP00000080742
Gene: ENSMUSG00000059256
AA Change: V129E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	20	245	2.68e-75	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	T	A	1: 179,615,767 (GRCm39)	E368D	probably benign	Het
Arid2	A	T	15: 96,259,653 (GRCm39)	H271L	probably damaging	Het
Bsnd	G	T	4: 106,343,962 (GRCm39)	Q115K	possibly damaging	Het
Ceacam5	T	A	7: 17,494,653 (GRCm39)	I887N	probably damaging	Het
Clrn2	T	C	5: 45,621,070 (GRCm39)	F155L	probably damaging	Het
Col12a1	A	G	9: 79,606,765 (GRCm39)	S553P	probably damaging	Het
Crnn	C	T	3: 93,056,674 (GRCm39)	H487Y	possibly damaging	Het
Ddi2	T	C	4: 141,435,767 (GRCm39)	N90S	probably benign	Het
Deup1	T	A	9: 15,503,707 (GRCm39)	I285L	probably benign	Het
Dlgap4	T	C	2: 156,546,546 (GRCm39)	S405P	probably damaging	Het
Dnah11	A	G	12: 118,069,720 (GRCm39)	F1560L	probably benign	Het
Dock1	T	C	7: 134,710,251 (GRCm39)		probably null	Het
Dst	C	A	1: 34,225,076 (GRCm39)	Q1161K	probably damaging	Het
Dus1l	G	T	11: 120,683,185 (GRCm39)	H280N	probably damaging	Het
Gm21985	C	A	2: 112,187,829 (GRCm39)	H964N	possibly damaging	Het
Hmcn2	T	A	2: 31,236,633 (GRCm39)	F392Y	possibly damaging	Het
Kdelr2	T	A	5: 143,403,870 (GRCm39)	Y86*	probably null	Het
Kif26b	T	G	1: 178,692,434 (GRCm39)	C458W	probably damaging	Het
Lhpp	G	A	7: 132,252,020 (GRCm39)	V220I	probably benign	Het
Nfya	T	C	17: 48,707,521 (GRCm39)	N7S	possibly damaging	Het
Or5ar1	G	T	2: 85,671,326 (GRCm39)	Q270K	possibly damaging	Het
Or5b12b	C	T	19: 12,861,815 (GRCm39)	T190I	possibly damaging	Het
Or5b24	A	C	19: 12,912,858 (GRCm39)	Y252S	probably damaging	Het
Prkg1	A	T	19: 30,546,637 (GRCm39)		probably benign	Het
Prpf6	A	G	2: 181,274,672 (GRCm39)	E383G	probably damaging	Het
Ptpn21	A	T	12: 98,644,882 (GRCm39)	V1153E	probably damaging	Het
Ryr1	A	T	7: 28,759,280 (GRCm39)	I3330N	probably damaging	Het
Sgk1	A	G	10: 21,873,290 (GRCm39)	D252G	probably null	Het
Shcbp1l	T	C	1: 153,308,911 (GRCm39)		probably benign	Het
Shoc1	G	A	4: 59,082,378 (GRCm39)	Q417*	probably null	Het
Skida1	T	C	2: 18,052,972 (GRCm39)	D60G	probably damaging	Het
Slc9a5	T	A	8: 106,094,652 (GRCm39)	C748S	probably benign	Het
Smc4	A	T	3: 68,916,875 (GRCm39)	Y163F	possibly damaging	Het
Spdya	T	C	17: 71,885,286 (GRCm39)	S247P	possibly damaging	Het
Sptb	T	C	12: 76,659,684 (GRCm39)	D1072G	probably benign	Het
St7l	A	T	3: 104,782,139 (GRCm39)		probably benign	Het
Trmt1l	T	C	1: 151,316,692 (GRCm39)		probably benign	Het
Tspan4	A	G	7: 141,071,712 (GRCm39)	Y153C	probably damaging	Het
Ulk4	A	T	9: 120,974,402 (GRCm39)	N944K	probably damaging	Het
Unc80	T	C	1: 66,544,097 (GRCm39)	C407R	probably damaging	Het
Zfp563	T	G	17: 33,323,661 (GRCm39)	S85R	probably benign	Het
Zp2	A	C	7: 119,736,450 (GRCm39)	L331R	possibly damaging	Het

Other mutations in Gzmd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Gzmd	APN	14	56,367,737 (GRCm39)	missense	probably damaging	1.00
R0225:Gzmd	UTSW	14	56,367,161 (GRCm39)	missense	probably damaging	1.00
R0800:Gzmd	UTSW	14	56,369,948 (GRCm39)	missense	unknown
R1538:Gzmd	UTSW	14	56,367,802 (GRCm39)	missense	probably benign	0.01
R1926:Gzmd	UTSW	14	56,367,737 (GRCm39)	missense	probably damaging	1.00
R2159:Gzmd	UTSW	14	56,368,153 (GRCm39)	missense	probably damaging	1.00
R4689:Gzmd	UTSW	14	56,368,683 (GRCm39)	splice site	probably null
R4709:Gzmd	UTSW	14	56,367,698 (GRCm39)	missense	probably null	0.83
R4959:Gzmd	UTSW	14	56,369,955 (GRCm39)	missense	unknown
R5339:Gzmd	UTSW	14	56,368,140 (GRCm39)	missense	possibly damaging	0.79
R5619:Gzmd	UTSW	14	56,367,224 (GRCm39)	missense	probably benign	0.10
R7241:Gzmd	UTSW	14	56,368,799 (GRCm39)	missense	probably damaging	1.00
R7667:Gzmd	UTSW	14	56,368,709 (GRCm39)	missense	probably damaging	1.00
R7770:Gzmd	UTSW	14	56,368,720 (GRCm39)	missense	probably damaging	0.99
R8320:Gzmd	UTSW	14	56,367,190 (GRCm39)	missense	probably benign	0.09
R8536:Gzmd	UTSW	14	56,367,158 (GRCm39)	missense	probably damaging	0.99
R8998:Gzmd	UTSW	14	56,368,144 (GRCm39)	missense	possibly damaging	0.57
R9249:Gzmd	UTSW	14	56,368,790 (GRCm39)	missense	probably damaging	1.00
R9339:Gzmd	UTSW	14	56,367,869 (GRCm39)	missense	probably damaging	1.00
R9477:Gzmd	UTSW	14	56,368,813 (GRCm39)	missense	probably benign	0.04
R9485:Gzmd	UTSW	14	56,368,160 (GRCm39)	missense	probably benign	0.41

Posted On

2016-08-02