Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00473:Gzmn'

4183

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gzmn

Ensembl Gene

ENSMUSG00000015443

Gene Name

granzyme N

Synonyms

GrN

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL00473

Quality Score

Status

Chromosome

Chromosomal Location

56403254-56412056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56404436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 134 (K134E)

Ref Sequence

ENSEMBL: ENSMUSP00000153137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015587] [ENSMUST00000225535]

AlphaFold

Q920S1

Predicted Effect

probably benign
Transcript: ENSMUST00000015587
AA Change: K134E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000015587
Gene: ENSMUSG00000015443
AA Change: K134E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	20	241	5.89e-72	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224928

Predicted Effect

probably benign
Transcript: ENSMUST00000225535
AA Change: K134E

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arcn1	A	G	9: 44,668,444 (GRCm39)	V264A	probably benign	Het
Asap1	T	C	15: 64,045,064 (GRCm39)		probably benign	Het
Brpf1	A	C	6: 113,293,645 (GRCm39)	Q571H	probably damaging	Het
C9orf72	C	T	4: 35,213,616 (GRCm39)	G178E	possibly damaging	Het
Creb3	G	T	4: 43,565,517 (GRCm39)	R232L	probably benign	Het
Cst5	G	T	2: 149,247,293 (GRCm39)	S3I	unknown	Het
Cyp4a14	A	G	4: 115,347,149 (GRCm39)		probably benign	Het
Daxx	C	T	17: 34,130,581 (GRCm39)	Q199*	probably null	Het
Eml5	A	G	12: 98,771,751 (GRCm39)		probably benign	Het
Gbp6	T	A	5: 105,422,145 (GRCm39)	K520*	probably null	Het
Gcfc2	T	A	6: 81,921,355 (GRCm39)	C454S	probably damaging	Het
Gm9894	T	A	13: 67,913,236 (GRCm39)		noncoding transcript	Het
Gpr15	C	T	16: 58,538,441 (GRCm39)	C216Y	probably damaging	Het
Kat2b	T	G	17: 53,970,651 (GRCm39)	I679S	possibly damaging	Het
Klhl10	A	G	11: 100,347,240 (GRCm39)	Y478C	probably damaging	Het
Mapt	A	G	11: 104,178,009 (GRCm39)	D54G	probably damaging	Het
Mocs1	A	G	17: 49,740,229 (GRCm39)	E52G	probably benign	Het
Plekhn1	T	G	4: 156,307,820 (GRCm39)	T369P	probably damaging	Het
Prdm6	T	A	18: 53,673,357 (GRCm39)	F172L	probably benign	Het
Prl7b1	A	T	13: 27,788,573 (GRCm39)	V94D	probably damaging	Het
Rasal2	T	C	1: 156,975,387 (GRCm39)	T1116A	probably benign	Het
Rreb1	A	T	13: 38,114,767 (GRCm39)	K709*	probably null	Het
Ruvbl1	A	T	6: 88,468,550 (GRCm39)	R357W	probably damaging	Het
Slc4a5	T	C	6: 83,273,579 (GRCm39)	L973P	probably damaging	Het
Srp72	A	G	5: 77,132,023 (GRCm39)	Y234C	probably damaging	Het
Synrg	G	A	11: 83,930,072 (GRCm39)	M1070I	probably damaging	Het
Zan	A	T	5: 137,462,512 (GRCm39)	I889K	possibly damaging	Het
Zbtb40	G	A	4: 136,714,651 (GRCm39)	T1046M	probably damaging	Het
Zfp978	A	G	4: 147,475,317 (GRCm39)	N288S	probably benign	Het
Zfpm2	A	T	15: 40,962,683 (GRCm39)	K247M	probably damaging	Het

Other mutations in Gzmn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Gzmn	APN	14	56,406,476 (GRCm39)	missense	probably benign	0.03
IGL02234:Gzmn	APN	14	56,406,464 (GRCm39)	splice site	probably null
IGL02691:Gzmn	APN	14	56,404,370 (GRCm39)	missense	probably benign	0.10
R0022:Gzmn	UTSW	14	56,404,382 (GRCm39)	missense	probably damaging	1.00
R1589:Gzmn	UTSW	14	56,403,368 (GRCm39)	missense	probably benign	0.05
R3763:Gzmn	UTSW	14	56,404,361 (GRCm39)	missense	probably benign	0.08
R4153:Gzmn	UTSW	14	56,405,299 (GRCm39)	missense	probably damaging	1.00
R4170:Gzmn	UTSW	14	56,404,261 (GRCm39)	missense	possibly damaging	0.73
R4420:Gzmn	UTSW	14	56,403,463 (GRCm39)	missense	probably benign	0.03
R5215:Gzmn	UTSW	14	56,405,319 (GRCm39)	missense	probably damaging	1.00
R5307:Gzmn	UTSW	14	56,405,403 (GRCm39)	missense	probably damaging	0.99
R6727:Gzmn	UTSW	14	56,403,432 (GRCm39)	missense	probably damaging	0.99
R7644:Gzmn	UTSW	14	56,404,776 (GRCm39)	missense	probably damaging	1.00
R9701:Gzmn	UTSW	14	56,405,310 (GRCm39)	missense	probably benign	0.17
X0023:Gzmn	UTSW	14	56,404,807 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20