Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01808:Amz1'

155749

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Amz1

Ensembl Gene

ENSMUSG00000050022

Gene Name

archaelysin family metallopeptidase 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01808

Quality Score

Status

Chromosome

Chromosomal Location

140724127-140761439 bp(+) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 140741279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060918] [ENSMUST00000120630]

AlphaFold

Q8BVF9

Predicted Effect

probably benign
Transcript: ENSMUST00000060918

SMART Domains

Protein: ENSMUSP00000053110
Gene: ENSMUSG00000050022

Domain	Start	End	E-Value	Type
low complexity region	225	239	N/A	INTRINSIC
low complexity region	475	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120630

SMART Domains

Protein: ENSMUSP00000113911
Gene: ENSMUSG00000050022

Domain	Start	End	E-Value	Type
low complexity region	225	239	N/A	INTRINSIC
low complexity region	475	494	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156006

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ager	A	T	17: 34,599,457	Q266L	probably damaging	Het
Ebf2	C	T	14: 67,414,483	A488V	probably benign	Het
Gm5885	A	T	6: 133,531,218		noncoding transcript	Het
Gnas	T	C	2: 174,298,697	S220P	probably damaging	Het
Gpr171	G	A	3: 59,098,151	P68S	probably damaging	Het
H2afx	T	C	9: 44,334,949	I63T	possibly damaging	Het
H2-M9	A	T	17: 36,641,819		probably null	Het
Igsf9	T	C	1: 172,484,803	V27A	probably benign	Het
Kcnh6	G	T	11: 106,023,927		probably benign	Het
Mapkbp1	A	G	2: 120,023,169		probably null	Het
Mllt6	C	A	11: 97,672,484	H298N	possibly damaging	Het
Mtmr3	A	G	11: 4,497,404	I352T	probably damaging	Het
Mtrr	T	C	13: 68,566,093	D509G	probably benign	Het
Ncan	C	T	8: 70,107,440		probably null	Het
Olfr612	T	A	7: 103,538,574	Y220F	probably damaging	Het
Pcdhb4	T	C	18: 37,309,014	V459A	probably damaging	Het
Phrf1	C	A	7: 141,260,966	P1274Q	probably damaging	Het
Slc4a2	T	C	5: 24,440,207	L1125P	probably damaging	Het
Synpo	T	C	18: 60,602,208	I650V	probably benign	Het
Tsc1	G	A	2: 28,662,507	R86H	probably damaging	Het
Ugt2a3	A	G	5: 87,325,555	V501A	probably benign	Het
Vmn1r203	T	C	13: 22,524,547	I166T	probably benign	Het
Vps13a	A	G	19: 16,710,286	C933R	probably damaging	Het
Zfp142	A	T	1: 74,576,025	F342Y	probably damaging	Het

Other mutations in Amz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4374:Amz1	UTSW	5	140752439	missense	possibly damaging	0.83
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
R7915:Amz1	UTSW	5	140741435	missense	probably benign
R8416:Amz1	UTSW	5	140751976	nonsense	probably null
R8539:Amz1	UTSW	5	140748657	missense	probably benign	0.05
R8766:Amz1	UTSW	5	140748166	missense	probably benign	0.01
R9500:Amz1	UTSW	5	140752220	missense	probably benign	0.00
R9563:Amz1	UTSW	5	140752378	missense	probably damaging	1.00
R9707:Amz1	UTSW	5	140748194	missense	possibly damaging	0.63
Z1176:Amz1	UTSW	5	140744073	nonsense	probably null

Posted On

2014-02-04