Mutagenetix > Incidental Mutation

Incidental Mutation 'R5339:Gzmd'

423717

Institutional Source

Beutler Lab

Gene Symbol

Gzmd

Ensembl Gene

ENSMUSG00000059256

Gene Name

granzyme D

Synonyms

CCP5, Ctla5, Ctla-5

MMRRC Submission

042918-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5339 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56367013-56370060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56368140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 106 (N106K)

Ref Sequence

ENSEMBL: ENSMUSP00000080742 (fasta)

Gene Model

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

AlphaFold

P11033

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082093
AA Change: N106K

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080742
Gene: ENSMUSG00000059256
AA Change: N106K

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

Meta Mutation Damage Score

0.5756

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	T	10: 10,318,350 (GRCm39)	G158E	probably damaging	Het
Adgrl2	C	T	3: 148,523,480 (GRCm39)	R1256H	probably benign	Het
C3	C	A	17: 57,531,308 (GRCm39)	V329F	probably damaging	Het
Ccdc50	C	T	16: 27,236,055 (GRCm39)	H130Y	probably damaging	Het
Chrna7	A	G	7: 62,749,055 (GRCm39)	S476P	probably damaging	Het
Crtc1	A	T	8: 70,850,383 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,536,494 (GRCm39)	T2137A	possibly damaging	Het
Ehd3	G	A	17: 74,135,202 (GRCm39)	M359I	possibly damaging	Het
Fastkd3	G	A	13: 68,738,283 (GRCm39)	G611R	probably damaging	Het
Foxa2	T	A	2: 147,886,354 (GRCm39)	S154C	probably damaging	Het
Gfm2	T	C	13: 97,311,548 (GRCm39)	I733T	probably benign	Het
Gm1968	T	C	16: 29,781,077 (GRCm39)		noncoding transcript	Het
Gmfg-ps	T	C	6: 4,893,401 (GRCm39)		noncoding transcript	Het
Huwe1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	X: 150,690,044 (GRCm39)		probably benign	Het
Ipo5	T	C	14: 121,181,122 (GRCm39)	W883R	probably damaging	Het
Itpr1	T	A	6: 108,370,922 (GRCm39)	V1063D	probably damaging	Het
Kansl3	A	C	1: 36,406,802 (GRCm39)		probably benign	Het
Klkb1	C	A	8: 45,723,748 (GRCm39)	V556F	possibly damaging	Het
Krtap14	C	A	16: 88,622,747 (GRCm39)	R77S	probably benign	Het
Leng8	T	A	7: 4,148,285 (GRCm39)	Y686N	possibly damaging	Het
Mctp1	C	A	13: 76,973,825 (GRCm39)		probably benign	Het
Moxd2	T	C	6: 40,862,354 (GRCm39)	Y155C	probably damaging	Het
Ofcc1	A	G	13: 40,241,321 (GRCm39)	V729A	probably benign	Het
Or2w6	G	A	13: 21,843,404 (GRCm39)	L30F	probably benign	Het
Or4k1	C	A	14: 50,377,759 (GRCm39)	M112I	probably damaging	Het
Or7g27	G	A	9: 19,250,455 (GRCm39)	G233E	possibly damaging	Het
Or8g30	A	T	9: 39,230,599 (GRCm39)	F104I	possibly damaging	Het
Or8g37	T	A	9: 39,731,229 (GRCm39)	M98K	probably damaging	Het
Pdia4	C	T	6: 47,773,619 (GRCm39)	A577T	possibly damaging	Het
Pex5	A	T	6: 124,374,963 (GRCm39)	S629T	probably benign	Het
Pnpla7	T	C	2: 24,892,949 (GRCm39)	S146P	probably benign	Het
Prune2	G	A	19: 17,098,236 (GRCm39)	E1247K	probably damaging	Het
Reg3a	A	G	6: 78,360,522 (GRCm39)		probably null	Het
Snx8	G	A	5: 140,343,905 (GRCm39)	R78C	probably damaging	Het
Sstr5	T	C	17: 25,710,173 (GRCm39)	E352G	probably benign	Het
Svep1	T	C	4: 58,121,892 (GRCm39)	Y767C	possibly damaging	Het
Tbx15	G	A	3: 99,223,600 (GRCm39)	V263M	possibly damaging	Het
Tdrd9	T	C	12: 111,993,556 (GRCm39)	Y695H	probably damaging	Het
Tep1	A	T	14: 51,082,031 (GRCm39)	L1174Q	probably damaging	Het
Tg	T	A	15: 66,549,942 (GRCm39)	Y235N	probably damaging	Het
Tha1	C	A	11: 117,761,908 (GRCm39)	R111L	possibly damaging	Het
Trim17	C	T	11: 58,845,336 (GRCm39)		probably null	Het
Trim72	A	G	7: 127,609,505 (GRCm39)	T436A	probably benign	Het
Uba7	C	T	9: 107,856,065 (GRCm39)	A480V	probably damaging	Het
Ublcp1	A	T	11: 44,346,435 (GRCm39)	S313T	probably benign	Het
Ubqlnl	A	G	7: 103,798,972 (GRCm39)	V175A	probably benign	Het
Vps26a	A	G	10: 62,294,746 (GRCm39)	L276P	probably damaging	Het
Zdhhc21	C	T	4: 82,756,550 (GRCm39)	G110S	probably damaging	Het
Zfp236	T	C	18: 82,642,491 (GRCm39)	E1133G	probably damaging	Het
Zfp800	A	T	6: 28,256,472 (GRCm39)	S39T	probably 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
IGL03220:Gzmd	APN	14	56,367,886 (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
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

Predicted Primers

PCR Primer
(F):5'- TAGCCTGAGACTCTTTGAAAGTC -3'
(R):5'- GGAATAGGTCTGACCCTGAGAC -3'

Sequencing Primer
(F):5'- CTGAGACTCTTTGAAAGTCAAGATGG -3'
(R):5'- GAGACCCACCTGTGTCCTCAAG -3'

Posted On

2016-08-04