Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03163:Amz2'

411516

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Amz2

Ensembl Gene

ENSMUSG00000020610

Gene Name

archaelysin family metallopeptidase 2

Synonyms

ESTM12

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03163

Quality Score

Status

Chromosome

Chromosomal Location

109316772-109328974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 109319751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 46 (Q46K)

Ref Sequence

ENSEMBL: ENSMUSP00000099350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020929] [ENSMUST00000092500] [ENSMUST00000103061]

AlphaFold

Q400C8

Predicted Effect

probably benign
Transcript: ENSMUST00000020929
AA Change: Q46K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020929
Gene: ENSMUSG00000020610
AA Change: Q46K

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M54	220	302	7.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092500
AA Change: Q46K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000090157
Gene: ENSMUSG00000020610
AA Change: Q46K

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M54	232	302	2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103061
AA Change: Q46K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099350
Gene: ENSMUSG00000020610
AA Change: Q46K

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M54	232	302	2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155036

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,228,191 (GRCm39)	D393V	probably benign	Het
Ankhd1	G	A	18: 36,780,681 (GRCm39)	R1911H	probably damaging	Het
Apba3	A	G	10: 81,105,057 (GRCm39)		probably null	Het
Atxn1l	T	C	8: 110,459,017 (GRCm39)	N415S	probably damaging	Het
Clu	C	T	14: 66,217,235 (GRCm39)	S356F	probably benign	Het
Cluh	T	C	11: 74,556,894 (GRCm39)	V1029A	probably benign	Het
Creb3	C	T	4: 43,566,315 (GRCm39)	L274F	probably damaging	Het
Dcaf8	T	C	1: 172,000,475 (GRCm39)	V211A	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Fam131c	T	C	4: 141,110,069 (GRCm39)	F156L	probably damaging	Het
Fbxw21	T	A	9: 108,974,552 (GRCm39)	I323F	probably benign	Het
Fmo9	A	G	1: 166,502,019 (GRCm39)	V202A	possibly damaging	Het
Gipr	C	T	7: 18,896,481 (GRCm39)	W205*	probably null	Het
Gm13941	A	T	2: 110,928,761 (GRCm39)	I99K	unknown	Het
Gpr22	A	T	12: 31,759,171 (GRCm39)	V317E	possibly damaging	Het
Hace1	T	C	10: 45,548,701 (GRCm39)	I582T	probably damaging	Het
Iho1	G	T	9: 108,282,132 (GRCm39)	L519I	probably benign	Het
Khdrbs1	T	C	4: 129,619,508 (GRCm39)	E211G	probably benign	Het
Lonrf1	T	C	8: 36,697,484 (GRCm39)	D500G	probably benign	Het
Lrp2	A	C	2: 69,331,870 (GRCm39)	Y1628*	probably null	Het
Lrrc40	T	C	3: 157,747,224 (GRCm39)	I112T	possibly damaging	Het
Matr3	G	A	18: 35,705,644 (GRCm39)	D190N	probably damaging	Het
Or8c16	T	C	9: 38,130,710 (GRCm39)	V194A	probably benign	Het
Ptpn13	A	T	5: 103,739,212 (GRCm39)	D2326V	probably damaging	Het
Ptpn3	T	C	4: 57,222,020 (GRCm39)	D557G	probably damaging	Het
Rangap1	A	T	15: 81,600,801 (GRCm39)	N194K	probably damaging	Het
Rasgef1c	T	C	11: 49,862,200 (GRCm39)	V363A	possibly damaging	Het
Ric8b	A	G	10: 84,837,686 (GRCm39)	N498D	probably damaging	Het
Scn1a	A	C	2: 66,148,418 (GRCm39)	D22E	probably benign	Het
Spc25	T	G	2: 69,027,548 (GRCm39)	I115L	probably damaging	Het
Sspo	A	G	6: 48,461,266 (GRCm39)	H3569R	probably benign	Het
Stra6l	T	C	4: 45,881,455 (GRCm39)	I439T	probably benign	Het
Trappc12	G	T	12: 28,796,653 (GRCm39)	P293Q	probably damaging	Het
Trcg1	T	C	9: 57,155,630 (GRCm39)	L761P	possibly damaging	Het
Usp15	A	C	10: 123,007,049 (GRCm39)	M144R	probably damaging	Het
Vmn2r11	T	C	5: 109,201,692 (GRCm39)	I271V	probably benign	Het
Zcchc2	T	C	1: 105,958,841 (GRCm39)	V1104A	probably damaging	Het
Zftraf1	A	T	15: 76,543,474 (GRCm39)	L13Q	probably damaging	Het

Other mutations in Amz2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Amz2	APN	11	109,324,847 (GRCm39)	missense	probably damaging	0.97
IGL02454:Amz2	APN	11	109,324,887 (GRCm39)	splice site	probably benign
BB004:Amz2	UTSW	11	109,319,884 (GRCm39)	missense	probably damaging	0.96
BB014:Amz2	UTSW	11	109,319,884 (GRCm39)	missense	probably damaging	0.96
R0546:Amz2	UTSW	11	109,324,780 (GRCm39)	missense	probably benign
R1617:Amz2	UTSW	11	109,324,850 (GRCm39)	missense	probably benign	0.11
R1913:Amz2	UTSW	11	109,319,697 (GRCm39)	missense	probably damaging	0.96
R2179:Amz2	UTSW	11	109,320,658 (GRCm39)	missense	probably damaging	1.00
R4291:Amz2	UTSW	11	109,324,881 (GRCm39)	critical splice donor site	probably null
R4722:Amz2	UTSW	11	109,325,457 (GRCm39)	missense	probably damaging	1.00
R5797:Amz2	UTSW	11	109,317,905 (GRCm39)	start gained	probably benign
R5845:Amz2	UTSW	11	109,324,755 (GRCm39)	missense	probably damaging	1.00
R6341:Amz2	UTSW	11	109,319,653 (GRCm39)	missense	probably benign	0.10
R6384:Amz2	UTSW	11	109,319,860 (GRCm39)	missense	probably damaging	0.99
R7698:Amz2	UTSW	11	109,319,833 (GRCm39)	missense	probably damaging	0.98
R7896:Amz2	UTSW	11	109,327,413 (GRCm39)	missense	possibly damaging	0.80
R7927:Amz2	UTSW	11	109,319,884 (GRCm39)	missense	probably damaging	0.96
R9688:Amz2	UTSW	11	109,320,765 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02