Incidental Mutation 'R3763:Gzmn'
ID 270606
Institutional Source Beutler Lab
Gene Symbol Gzmn
Ensembl Gene ENSMUSG00000015443
Gene Name granzyme N
Synonyms GrN
MMRRC Submission 040873-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R3763 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 56403254-56412056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 56404361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 159 (S159A)
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: S159A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000015587
Gene: ENSMUSG00000015443
AA Change: S159A

DomainStartEndE-ValueType
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: S159A

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,760,331 (GRCm39) E29G possibly damaging Het
Aff3 A G 1: 38,291,770 (GRCm39) probably benign Het
AW146154 A G 7: 41,129,794 (GRCm39) C441R probably damaging Het
Cacna1a T C 8: 85,310,271 (GRCm39) V1443A possibly damaging Het
Commd1 T A 11: 22,924,102 (GRCm39) F292Y probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
Ddx18 A G 1: 121,489,106 (GRCm39) Y314H probably damaging Het
Dna2 C T 10: 62,802,576 (GRCm39) T898I probably damaging Het
Epc1 C A 18: 6,440,091 (GRCm39) V59L possibly damaging Het
Etv6 C A 6: 134,239,975 (GRCm39) probably benign Het
Fam118a A G 15: 84,937,998 (GRCm39) D293G possibly damaging Het
Insc A G 7: 114,390,207 (GRCm39) D26G probably damaging Het
L1td1 A G 4: 98,626,072 (GRCm39) R756G probably damaging Het
Ltk A G 2: 119,582,318 (GRCm39) L499P probably benign Het
Mast4 A T 13: 102,923,927 (GRCm39) L291M probably damaging Het
Nefm G T 14: 68,361,797 (GRCm39) R156S probably damaging Het
Nppc T A 1: 86,597,580 (GRCm39) N63Y probably damaging Het
Or5p79 A T 7: 108,221,924 (GRCm39) I302F probably damaging Het
Or6c69 A G 10: 129,747,314 (GRCm39) S278P probably damaging Het
Pcdhb7 T C 18: 37,474,936 (GRCm39) V24A probably benign Het
Pcm1 C A 8: 41,733,114 (GRCm39) Q787K probably damaging Het
Prg3 A G 2: 84,823,334 (GRCm39) K170E possibly damaging Het
Slc25a54 T C 3: 109,019,370 (GRCm39) S325P probably damaging Het
Slc44a1 T C 4: 53,563,286 (GRCm39) V671A probably benign Het
Spock3 T A 8: 63,597,049 (GRCm39) probably null Het
Stk-ps2 G A 1: 46,069,081 (GRCm39) noncoding transcript Het
Svep1 T G 4: 58,084,833 (GRCm39) D1835A possibly damaging Het
Tmcc3 A G 10: 94,415,179 (GRCm39) T294A probably benign Het
Tsen54 A G 11: 115,711,237 (GRCm39) N62S probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn2r18 G A 5: 151,508,644 (GRCm39) A160V probably damaging Het
Wnk4 T C 11: 101,160,114 (GRCm39) V661A probably benign Het
Zfhx4 A G 3: 5,468,404 (GRCm39) Y2854C probably damaging Het
Zfp563 G T 17: 33,323,902 (GRCm39) E166* probably null Het
Zfp687 T A 3: 94,919,391 (GRCm39) N127I probably damaging Het
Zfp958 T A 8: 4,676,226 (GRCm39) probably null Het
Other mutations in Gzmn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGGTTTTGCCATTCTTACACC -3'
(R):5'- AAAAGACTCTCAGGCTAGCAGG -3'

Sequencing Primer
(F):5'- ACACCTTGGCCTCTCTCAGG -3'
(R):5'- TAGCAGGCTCCTAGCTGAG -3'
Posted On 2015-03-18