Mutagenetix > Incidental Mutation

Incidental Mutation 'R8320:Gzmd'

641925

Institutional Source

Beutler Lab

Gene Symbol

Gzmd

Ensembl Gene

ENSMUSG00000059256

Gene Name

granzyme D

Synonyms

CCP5, Ctla5, Ctla-5

MMRRC Submission

067722-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56367013-56370060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56367190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 234 (I234T)

Ref Sequence

ENSEMBL: ENSMUSP00000080742 (fasta)

Gene Model

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

AlphaFold

P11033

Predicted Effect

probably benign
Transcript: ENSMUST00000082093
AA Change: I234T

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000080742
Gene: ENSMUSG00000059256
AA Change: I234T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb10	A	G	5: 24,742,626 (GRCm39)		probably null	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Clec3a	T	C	8: 115,152,369 (GRCm39)	V125A	probably benign	Het
Clspn	A	G	4: 126,457,743 (GRCm39)	D258G	possibly damaging	Het
Cnn3	T	G	3: 121,243,635 (GRCm39)	L32R	probably damaging	Het
Cntnap5a	T	C	1: 116,374,466 (GRCm39)	F993L	possibly damaging	Het
Cobl	A	G	11: 12,217,001 (GRCm39)	S496P	probably damaging	Het
Dmxl2	A	G	9: 54,291,043 (GRCm39)	V2469A	probably benign	Het
Egfr	T	C	11: 16,841,251 (GRCm39)	F714S	probably damaging	Het
Erap1	G	C	13: 74,814,668 (GRCm39)	E465Q	probably benign	Het
Ercc6	T	C	14: 32,242,972 (GRCm39)	V204A	probably benign	Het
Fbln2	C	T	6: 91,234,749 (GRCm39)	T689I	possibly damaging	Het
Fbxw13	G	T	9: 109,012,134 (GRCm39)	T311K	probably benign	Het
Foxj2	T	A	6: 122,810,649 (GRCm39)	S210T	probably benign	Het
Gnl1	A	G	17: 36,293,490 (GRCm39)	N225S	probably damaging	Het
Grid2	T	C	6: 63,233,917 (GRCm39)	I26T	probably benign	Het
Igkv2-137	GA	GAA	6: 67,533,154 (GRCm39)		probably null	Het
Kif26b	T	C	1: 178,711,641 (GRCm39)		probably null	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Klra10	A	G	6: 130,246,211 (GRCm39)	C255R	probably damaging	Het
Lgi4	T	C	7: 30,768,366 (GRCm39)	V455A	probably benign	Het
Mucl3	T	C	17: 35,954,530 (GRCm39)	T11A	probably benign	Het
Neb	C	A	2: 52,186,343 (GRCm39)	V910L	probably benign	Het
Pigg	G	A	5: 108,495,717 (GRCm39)	R918H	probably benign	Het
Poln	A	G	5: 34,307,171 (GRCm39)	V10A	possibly damaging	Het
Polr1a	T	A	6: 71,918,368 (GRCm39)	M642K	probably damaging	Het
Rasal1	C	T	5: 120,804,420 (GRCm39)	R431C	probably benign	Het
Rfc1	A	T	5: 65,460,379 (GRCm39)	Y167*	probably null	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Sars2	C	T	7: 28,446,293 (GRCm39)	T174I	probably damaging	Het
Septin4	T	C	11: 87,480,560 (GRCm39)	V398A	possibly damaging	Het
Slc6a2	C	T	8: 93,719,476 (GRCm39)	T397I	probably benign	Het
Smarca4	G	T	9: 21,588,798 (GRCm39)	R1200L	probably benign	Het
Stx7	G	T	10: 24,055,046 (GRCm39)	A63S	probably damaging	Het
Sval3	G	A	6: 41,949,458 (GRCm39)	V99I	probably benign	Het
Syna	A	G	5: 134,588,574 (GRCm39)	I125T	possibly damaging	Het
Syne2	T	C	12: 76,150,604 (GRCm39)	S1827P	probably damaging	Het
Taf4b	T	C	18: 14,916,749 (GRCm39)	V33A	possibly damaging	Het
Tpcn2	C	T	7: 144,820,359 (GRCm39)	R373H	possibly damaging	Het
Trpm1	A	G	7: 63,918,541 (GRCm39)	D1511G	possibly damaging	Het
Ttc3	C	A	16: 94,219,535 (GRCm39)	R487S	probably damaging	Het
Tubb3	T	C	8: 124,147,594 (GRCm39)	S176P	possibly damaging	Het
Zfp189	C	G	4: 49,530,180 (GRCm39)	Q428E	probably benign	Het
Zscan4d	C	T	7: 10,799,942 (GRCm39)	V316M	probably benign	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
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
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'- GTCGCAAACCATGGAGTGACTC -3'
(R):5'- AAACCTGTCCTGCACTGATC -3'

Sequencing Primer
(F):5'- AAAATTTCAGCTCTATGCACTCTGG -3'
(R):5'- CTGATCTAAAGTTAGCCTTGCCAGG -3'

Posted On

2020-07-28