Mutagenetix > Incidental Mutation

Incidental Mutation 'R0022:Gzmn'

15213

Institutional Source

Beutler Lab

Gene Symbol

Gzmn

Ensembl Gene

ENSMUSG00000015443

Gene Name

granzyme N

Synonyms

GrN

MMRRC Submission

038317-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R0022 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

56403254-56412056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56404382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 152 (S152P)

Ref Sequence

ENSEMBL: ENSMUSP00000153137 (fasta)

Gene Model

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

AlphaFold

Q920S1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015587
AA Change: S152P

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000015587
Gene: ENSMUSG00000015443
AA Change: S152P

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 damaging
Transcript: ENSMUST00000225535
AA Change: S152P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.1686

Coding Region Coverage

1x: 82.0%
3x: 74.9%
10x: 56.1%
20x: 37.0%

Validation Efficiency

97% (90/93)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aste1	T	A	9: 105,273,823 (GRCm39)	L21*	probably null	Het
Btbd10	G	A	7: 112,924,988 (GRCm39)	Q287*	probably null	Het
Cd244a	A	G	1: 171,401,330 (GRCm39)	D48G	probably benign	Het
Cdc20	T	A	4: 118,292,686 (GRCm39)	H354L	probably damaging	Het
Cdhr3	G	A	12: 33,132,263 (GRCm39)	T120I	probably damaging	Het
Chd8	A	T	14: 52,470,312 (GRCm39)	S433T	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col9a3	A	G	2: 180,261,549 (GRCm39)	D613G	probably damaging	Het
Coro7	C	T	16: 4,451,168 (GRCm39)	R507H	probably benign	Het
Cracdl	C	T	1: 37,667,326 (GRCm39)	R240Q	probably damaging	Het
Csf1	A	T	3: 107,661,178 (GRCm39)	V113E	probably damaging	Het
Dclre1b	G	T	3: 103,710,464 (GRCm39)	H482Q	probably benign	Het
Ephb6	T	C	6: 41,591,503 (GRCm39)	V220A	probably damaging	Het
Ggct	C	A	6: 54,962,887 (GRCm39)	E175*	probably null	Het
Gm5316	T	C	6: 122,877,354 (GRCm39)		noncoding transcript	Het
Hoxa7	T	C	6: 52,194,363 (GRCm39)	N8S	probably damaging	Het
Il12rb2	A	G	6: 67,275,903 (GRCm39)	F630S	probably damaging	Het
Kit	A	G	5: 75,783,657 (GRCm39)	N378S	probably benign	Het
Lrp1b	A	T	2: 40,888,050 (GRCm39)		probably benign	Het
Ltbp1	T	A	17: 75,671,355 (GRCm39)	V1194D	probably damaging	Het
Mc5r	T	G	18: 68,471,853 (GRCm39)	S71A	probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Naa25	C	A	5: 121,556,039 (GRCm39)	L276M	probably damaging	Het
Nlrp1b	T	G	11: 71,052,755 (GRCm39)	K888T	possibly damaging	Het
Pabpc6	A	T	17: 9,888,145 (GRCm39)	N135K	probably benign	Het
Pik3r2	A	G	8: 71,223,545 (GRCm39)	F346S	probably damaging	Het
Pkd1	T	C	17: 24,813,793 (GRCm39)	W4086R	probably damaging	Het
Pmfbp1	C	T	8: 110,252,039 (GRCm39)	R395W	probably damaging	Het
Ppp1ca	T	G	19: 4,244,580 (GRCm39)	V213G	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rapgef2	G	A	3: 78,995,207 (GRCm39)	R814C	probably damaging	Het
Rnasel	A	T	1: 153,636,521 (GRCm39)	I634F	probably damaging	Het
Rnf157	A	T	11: 116,240,276 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,471,011 (GRCm39)	S4567P	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Smcr8	T	A	11: 60,671,185 (GRCm39)	W778R	probably damaging	Het
Stat1	T	A	1: 52,179,789 (GRCm39)	L333Q	probably damaging	Het
Taar1	G	T	10: 23,796,625 (GRCm39)	A108S	probably benign	Het
Tro	C	G	X: 149,430,508 (GRCm39)		probably benign	Het
Ubr1	A	T	2: 120,791,654 (GRCm39)		probably benign	Het

Other mutations in Gzmn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Gzmn	APN	14	56,404,436 (GRCm39)	missense	probably benign	0.06
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
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

2012-12-12