Incidental Mutation 'R4374:Amz1'
ID325026
Institutional Source Beutler Lab
Gene Symbol Amz1
Ensembl Gene ENSMUSG00000050022
Gene Namearchaelysin family metallopeptidase 1
Synonyms
MMRRC Submission 041118-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #R4374 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location140724127-140761439 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 140752439 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 184 (S184P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060918] [ENSMUST00000120630]
Predicted Effect possibly damaging
Transcript: ENSMUST00000060918
AA Change: S485P

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053110
Gene: ENSMUSG00000050022
AA Change: S485P

DomainStartEndE-ValueType
low complexity region 225 239 N/A INTRINSIC
low complexity region 475 494 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000120630
AA Change: S485P

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113911
Gene: ENSMUSG00000050022
AA Change: S485P

DomainStartEndE-ValueType
low complexity region 225 239 N/A INTRINSIC
low complexity region 475 494 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155644
Predicted Effect possibly damaging
Transcript: ENSMUST00000176035
AA Change: S184P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T A 14: 49,770,436 T527S probably damaging Het
Abhd2 A G 7: 79,323,530 M86V probably benign Het
Acin1 C A 14: 54,653,894 probably benign Het
Aebp2 T A 6: 140,654,258 probably benign Het
Akap13 A G 7: 75,608,984 E452G probably damaging Het
Ccdc83 A T 7: 90,226,778 L295* probably null Het
Cd209c T C 8: 3,954,635 noncoding transcript Het
Cpsf7 A T 19: 10,539,637 I368F probably damaging Het
Csf1r G A 18: 61,119,006 C520Y probably damaging Het
Dapk1 A G 13: 60,719,684 D235G probably benign Het
Ercc1 G A 7: 19,347,132 probably benign Het
Fktn T C 4: 53,720,201 S72P probably damaging Het
Frem2 C A 3: 53,545,502 V2189F possibly damaging Het
Gm10845 G T 14: 79,863,123 noncoding transcript Het
Hk1 C A 10: 62,315,540 K10N probably damaging Het
Lama1 A G 17: 67,804,518 M2255V probably benign Het
Lrsam1 G T 2: 32,955,191 T104K possibly damaging Het
Myh6 T A 14: 54,962,108 I249F probably damaging Het
Myo7a G A 7: 98,102,674 T54M probably damaging Het
Olfr178 A C 16: 58,889,879 C114G probably benign Het
Olfr608 T C 7: 103,470,071 S11P probably damaging Het
Osbpl8 T A 10: 111,269,419 I245N possibly damaging Het
Pfkp A G 13: 6,620,989 S135P probably damaging Het
Phf20l1 C T 15: 66,604,837 T260I possibly damaging Het
Pole T A 5: 110,337,205 I395K possibly damaging Het
Ppp6r2 T G 15: 89,265,158 C216W probably damaging Het
Pramel7 C T 2: 87,490,071 A293T probably benign Het
Rpl11 G A 4: 136,051,143 probably benign Het
Scamp3 G A 3: 89,181,927 probably null Het
Setbp1 T C 18: 78,859,922 R177G probably damaging Het
Sh2b3 G T 5: 121,828,486 probably benign Het
Tbc1d30 A G 10: 121,294,712 F271S probably damaging Het
Tpo T C 12: 30,103,152 E401G possibly damaging Het
Zdhhc13 T C 7: 48,808,841 Y308H probably damaging Het
Zfp112 C T 7: 24,126,373 H589Y probably damaging Het
Zmiz1 T C 14: 25,636,010 S140P probably damaging Het
Other mutations in Amz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01808:Amz1 APN 5 140741279 utr 5 prime probably benign
IGL02340:Amz1 APN 5 140752259 missense probably damaging 1.00
IGL03389:Amz1 APN 5 140752027 missense probably benign
PIT4131001:Amz1 UTSW 5 140749333 critical splice donor site probably null
R1173:Amz1 UTSW 5 140751936 critical splice acceptor site probably null
R1237:Amz1 UTSW 5 140741284 start codon destroyed probably damaging 0.98
R1435:Amz1 UTSW 5 140748166 missense probably damaging 1.00
R1909:Amz1 UTSW 5 140752461 missense probably benign 0.30
R2019:Amz1 UTSW 5 140751964 missense probably benign 0.00
R4094:Amz1 UTSW 5 140752166 missense probably damaging 0.99
R5121:Amz1 UTSW 5 140744164 missense probably benign 0.05
R5462:Amz1 UTSW 5 140748221 missense probably damaging 1.00
R7339:Amz1 UTSW 5 140741551 missense probably benign 0.01
R7475:Amz1 UTSW 5 140744186 critical splice donor site probably null
Z1176:Amz1 UTSW 5 140744073 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAGTATGGACAGTGGCTGAC -3'
(R):5'- TAACCCTGCAGATACCAGAGG -3'

Sequencing Primer
(F):5'- TGACTGCGTGCATCCAGAC -3'
(R):5'- AGGTTAATTCTCTGCCCC -3'
Posted On2015-07-06