Mutagenetix > Incidental Mutation

Incidental Mutation 'R1617:Amz2'

174379

Institutional Source

Beutler Lab

Gene Symbol

Amz2

Ensembl Gene

ENSMUSG00000020610

Gene Name

archaelysin family metallopeptidase 2

Synonyms

ESTM12

MMRRC Submission

039654-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109316772-109328974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109324850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 245 (T245A)

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: T245A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000020929
Gene: ENSMUSG00000020610
AA Change: T245A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000092500
AA Change: T245A

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000090157
Gene: ENSMUSG00000020610
AA Change: T245A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103061
AA Change: T245A

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099350
Gene: ENSMUSG00000020610
AA Change: T245A

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: ENSMUST00000131181

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155036

Meta Mutation Damage Score

0.6170

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

98% (83/85)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,603,473 (GRCm39)	I91K	probably damaging	Het
AAdacl4fm3	T	G	4: 144,441,961 (GRCm39)	T97P	probably damaging	Het
Adamts16	T	A	13: 70,946,154 (GRCm39)	M254L	probably benign	Het
Adgre5	T	C	8: 84,456,806 (GRCm39)	I192V	possibly damaging	Het
Akr1c21	G	A	13: 4,626,351 (GRCm39)		probably null	Het
Aqp7	A	C	4: 41,036,109 (GRCm39)	M43R	probably null	Het
Arid3c	G	A	4: 41,725,103 (GRCm39)	P315S	probably damaging	Het
Birc2	A	T	9: 7,826,952 (GRCm39)	Y345N	possibly damaging	Het
Blnk	T	C	19: 40,950,807 (GRCm39)	T115A	probably benign	Het
Col5a1	T	C	2: 27,842,393 (GRCm39)	S423P	unknown	Het
Corin	A	T	5: 72,661,295 (GRCm39)	F66Y	possibly damaging	Het
Cpd	A	T	11: 76,737,495 (GRCm39)	W100R	probably damaging	Het
Cpsf1	A	T	15: 76,486,570 (GRCm39)	Y296*	probably null	Het
Cyp2d34	T	C	15: 82,505,046 (GRCm39)	T5A	probably benign	Het
Dhrs7c	G	T	11: 67,705,903 (GRCm39)	V219L	possibly damaging	Het
Dnah3	T	C	7: 119,689,169 (GRCm39)	M82V	probably benign	Het
Dnah9	A	G	11: 65,786,747 (GRCm39)	S3629P	probably damaging	Het
Fbrs	T	C	7: 127,086,883 (GRCm39)	L33P	probably damaging	Het
Fhip1b	A	G	7: 105,034,269 (GRCm39)	L454P	probably damaging	Het
Galnt11	T	A	5: 25,463,891 (GRCm39)	S388T	probably damaging	Het
Glmp	A	G	3: 88,235,426 (GRCm39)		probably benign	Het
Gm9894	A	G	13: 67,920,845 (GRCm39)		noncoding transcript	Het
Grik3	A	G	4: 125,584,985 (GRCm39)	M618V	probably benign	Het
Hmcn1	T	C	1: 150,620,778 (GRCm39)	D1144G	probably damaging	Het
Hnrnpa2b1	T	C	6: 51,443,378 (GRCm39)	K161R	possibly damaging	Het
Kmt2c	T	C	5: 25,580,925 (GRCm39)	I523V	probably benign	Het
Lmln	C	T	16: 32,937,500 (GRCm39)	P622S	probably damaging	Het
Lmtk2	A	G	5: 144,110,680 (GRCm39)	T467A	probably damaging	Het
Map1s	T	A	8: 71,366,095 (GRCm39)	N333K	probably damaging	Het
Mgat4d	C	A	8: 84,092,340 (GRCm39)	A242D	probably damaging	Het
Muc5b	T	A	7: 141,417,261 (GRCm39)	Y3402*	probably null	Het
Myo3b	G	T	2: 70,111,562 (GRCm39)	A922S	probably benign	Het
Nphs1	T	C	7: 30,181,956 (GRCm39)	V1183A	probably benign	Het
Nup160	T	A	2: 90,509,843 (GRCm39)	C31S	probably benign	Het
Or4c58	T	C	2: 89,674,598 (GRCm39)	T240A	probably benign	Het
Or8k25	A	T	2: 86,244,035 (GRCm39)	Y120*	probably null	Het
Pcdhb5	T	G	18: 37,454,455 (GRCm39)	Y278*	probably null	Het
Pkhd1	T	A	1: 20,268,274 (GRCm39)	E3368V	possibly damaging	Het
Pla2g6	A	G	15: 79,173,341 (GRCm39)	M676T	probably benign	Het
Plcb1	A	T	2: 135,179,361 (GRCm39)	N590Y	probably damaging	Het
Prr12	G	A	7: 44,699,018 (GRCm39)		probably benign	Het
Psat1	A	G	19: 15,901,666 (GRCm39)		probably null	Het
Ptpn9	T	G	9: 56,934,692 (GRCm39)	I152S	possibly damaging	Het
Ric8b	T	A	10: 84,783,475 (GRCm39)	F111Y	probably damaging	Het
Slc44a3	G	A	3: 121,254,914 (GRCm39)	A568V	probably benign	Het
Smarcd3	T	G	5: 24,800,192 (GRCm39)	R213S	probably damaging	Het
Snx13	T	C	12: 35,136,895 (GRCm39)	Y119H	probably damaging	Het
Socs2	C	A	10: 95,248,943 (GRCm39)	E57*	probably null	Het
Spred1	C	T	2: 117,005,828 (GRCm39)	P197S	probably benign	Het
Srek1	G	T	13: 103,880,112 (GRCm39)	P482Q	unknown	Het
Tapbp	A	G	17: 34,139,405 (GRCm39)	T134A	probably benign	Het
Tarbp1	T	C	8: 127,171,007 (GRCm39)	I998V	possibly damaging	Het
Tbcel	G	T	9: 42,372,589 (GRCm39)		probably benign	Het
Tec	A	G	5: 72,939,448 (GRCm39)	F189S	probably damaging	Het
Tmprss11g	A	T	5: 86,647,422 (GRCm39)	Y39N	probably damaging	Het
Tmtc1	A	G	6: 148,256,902 (GRCm39)		probably benign	Het
Trpa1	A	G	1: 14,943,899 (GRCm39)	I1070T	probably damaging	Het
Trpm2	T	A	10: 77,771,709 (GRCm39)		probably null	Het
Ttc21b	G	T	2: 66,056,379 (GRCm39)	T669K	probably benign	Het
Ttll4	G	A	1: 74,718,560 (GRCm39)	R137H	probably benign	Het
Ubqln3	G	T	7: 103,792,067 (GRCm39)	L8I	possibly damaging	Het
Ung	C	A	5: 114,269,415 (GRCm39)	N42K	probably benign	Het
Upp1	T	C	11: 9,084,865 (GRCm39)	S195P	probably damaging	Het
Urb1	T	C	16: 90,557,340 (GRCm39)	E1762G	possibly damaging	Het
Utp11	T	C	4: 124,579,904 (GRCm39)	K35E	probably damaging	Het
Vav3	A	T	3: 109,418,294 (GRCm39)	K305I	probably damaging	Het
Vmn1r197	A	G	13: 22,512,498 (GRCm39)	I140V	possibly damaging	Het
Vmn2r-ps158	A	G	7: 42,673,503 (GRCm39)	E187G	probably benign	Het
Zfc3h1	A	G	10: 115,226,827 (GRCm39)	T295A	probably benign	Het
Zfp268	A	T	4: 145,350,877 (GRCm39)		probably benign	Het
Zfp46	T	C	4: 136,017,823 (GRCm39)	L219P	probably damaging	Het
Zfp493	G	A	13: 67,931,999 (GRCm39)	V33M	probably damaging	Het
Zfp92	T	C	X: 72,463,466 (GRCm39)		probably benign	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
IGL03163:Amz2	APN	11	109,319,751 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCGGGTGTGGAAACAATCCAGATG -3'
(R):5'- TGGGTTCTACCCACTAGGTGACAG -3'

Sequencing Primer
(F):5'- GAGCAGACTTTCTTGGTCTTTC -3'
(R):5'- ggaggctgagacaggagg -3'

Posted On

2014-04-24