Mutagenetix > Incidental Mutation

Incidental Mutation 'R0546:Amz2'

44860

Institutional Source

Beutler Lab

Gene Symbol

Amz2

Ensembl Gene

ENSMUSG00000020610

Gene Name

archaelysin family metallopeptidase 2

Synonyms

ESTM12

MMRRC Submission

038738-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0546 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109316772-109328974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109324780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 221 (N221K)

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: N221K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020929
Gene: ENSMUSG00000020610
AA Change: N221K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000092500
AA Change: N221K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090157
Gene: ENSMUSG00000020610
AA Change: N221K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103061
AA Change: N221K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099350
Gene: ENSMUSG00000020610
AA Change: N221K

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,077,076 (GRCm39)		probably null	Het
Actn1	C	T	12: 80,225,208 (GRCm39)	R418Q	probably benign	Het
Adam39	G	A	8: 41,279,468 (GRCm39)	V620M	probably damaging	Het
Agr3	C	A	12: 35,978,329 (GRCm39)	T14K	probably benign	Het
Alpk2	T	C	18: 65,439,788 (GRCm39)	D1002G	probably benign	Het
Aox4	A	G	1: 58,289,333 (GRCm39)	E752G	probably damaging	Het
Ap2a1	C	T	7: 44,554,132 (GRCm39)	G500S	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Ccdc112	A	G	18: 46,424,139 (GRCm39)	S200P	possibly damaging	Het
Ccdc18	A	T	5: 108,322,830 (GRCm39)	E643D	probably benign	Het
Ccdc180	A	T	4: 45,904,597 (GRCm39)	T398S	possibly damaging	Het
Cnp	A	G	11: 100,471,549 (GRCm39)	Y397C	probably damaging	Het
Cpa4	T	C	6: 30,580,962 (GRCm39)	W184R	probably damaging	Het
Crebbp	A	T	16: 3,903,671 (GRCm39)	I1856N	probably damaging	Het
Ctrl	A	G	8: 106,658,966 (GRCm39)	I200T	probably damaging	Het
Cyfip1	C	T	7: 55,572,564 (GRCm39)	R934*	probably null	Het
Dennd5a	A	G	7: 109,520,633 (GRCm39)	V408A	probably benign	Het
Dhfr	G	A	13: 92,504,692 (GRCm39)		probably null	Het
Dnajc6	A	T	4: 101,492,388 (GRCm39)	N740Y	probably damaging	Het
Fam110a	T	C	2: 151,812,732 (GRCm39)	T13A	probably benign	Het
Fars2	G	T	13: 36,388,569 (GRCm39)	K19N	probably benign	Het
Fer1l6	A	T	15: 58,430,257 (GRCm39)		probably null	Het
Gabra1	T	A	11: 42,053,428 (GRCm39)	T69S	probably damaging	Het
Galnt18	T	G	7: 111,107,348 (GRCm39)	N475T	probably damaging	Het
Gbp4	T	C	5: 105,268,836 (GRCm39)	Y439C	probably damaging	Het
Gpatch2l	A	G	12: 86,335,622 (GRCm39)	*409W	probably null	Het
Hip1r	T	C	5: 124,137,114 (GRCm39)	V658A	possibly damaging	Het
Hspg2	A	G	4: 137,229,605 (GRCm39)	D73G	probably benign	Het
Ifitm2	A	G	7: 140,535,656 (GRCm39)	V58A	possibly damaging	Het
Ift172	T	C	5: 31,414,945 (GRCm39)	D1359G	probably benign	Het
Ing1	A	G	8: 11,607,031 (GRCm39)	D41G	probably damaging	Het
Itgal	C	T	7: 126,909,486 (GRCm39)	T446I	probably benign	Het
Itgav	G	T	2: 83,633,586 (GRCm39)	M978I	probably benign	Het
Jazf1	A	G	6: 52,754,681 (GRCm39)	Y132H	possibly damaging	Het
Lgr4	T	A	2: 109,829,766 (GRCm39)	N211K	probably damaging	Het
Mgat4d	A	G	8: 84,082,350 (GRCm39)	N100S	possibly damaging	Het
Mrgprb3	T	C	7: 48,293,263 (GRCm39)	Y96C	probably damaging	Het
Myh11	A	C	16: 14,023,492 (GRCm39)	L1562R	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myo15a	A	G	11: 60,397,139 (GRCm39)	Y2667C	probably damaging	Het
Or14j7	T	A	17: 38,235,229 (GRCm39)	C257*	probably null	Het
Or52ae7	A	G	7: 103,119,907 (GRCm39)	I220M	possibly damaging	Het
Or6c70	G	A	10: 129,710,407 (GRCm39)	T73I	possibly damaging	Het
Or8k37	T	A	2: 86,469,573 (GRCm39)	T160S	possibly damaging	Het
Or8k38	C	T	2: 86,488,235 (GRCm39)	C189Y	possibly damaging	Het
Or9m2	T	A	2: 87,820,816 (GRCm39)	Y120*	probably null	Het
Paox	G	T	7: 139,711,591 (GRCm39)	G148W	probably damaging	Het
Pkd1	T	C	17: 24,799,112 (GRCm39)	V2777A	probably benign	Het
Plod2	T	A	9: 92,477,388 (GRCm39)	V360E	probably damaging	Het
Prune2	T	C	19: 16,998,030 (GRCm39)		probably benign	Het
Sbds	G	T	5: 130,282,919 (GRCm39)	A3D	possibly damaging	Het
Sec23a	T	C	12: 59,031,953 (GRCm39)	T426A	probably benign	Het
Sec31a	T	C	5: 100,551,929 (GRCm39)	Y148C	probably damaging	Het
Shprh	T	A	10: 11,059,631 (GRCm39)		probably benign	Het
Slc16a7	A	G	10: 125,066,742 (GRCm39)	V299A	probably benign	Het
Smg8	T	C	11: 86,974,439 (GRCm39)	Y174C	possibly damaging	Het
Snx22	T	A	9: 65,976,059 (GRCm39)	Y58F	probably damaging	Het
Snx25	A	G	8: 46,556,667 (GRCm39)	Y308H	probably benign	Het
St3gal2	A	G	8: 111,696,738 (GRCm39)		probably null	Het
Stab1	C	T	14: 30,861,507 (GRCm39)	R2500H	possibly damaging	Het
Steap4	T	C	5: 8,025,870 (GRCm39)	S144P	probably damaging	Het
Stfa3	T	A	16: 36,272,619 (GRCm39)		probably benign	Het
Tmprss9	C	A	10: 80,735,157 (GRCm39)	Q1095K	probably benign	Het
Top2a	A	G	11: 98,890,052 (GRCm39)	V1217A	possibly damaging	Het
Trhr2	A	G	8: 123,085,228 (GRCm39)		probably null	Het
Trim7	A	G	11: 48,736,336 (GRCm39)	E23G	probably damaging	Het
Trpv3	A	T	11: 73,188,013 (GRCm39)	E788V	probably damaging	Het
Ttn	A	G	2: 76,575,863 (GRCm39)	I25010T	probably damaging	Het
Ube2ql1	T	C	13: 69,887,419 (GRCm39)	H14R	unknown	Het
Uggt1	C	T	1: 36,235,052 (GRCm39)	R419H	probably benign	Het
Xpo4	A	G	14: 57,850,731 (GRCm39)	V391A	probably benign	Het
Zfhx3	A	G	8: 109,520,819 (GRCm39)	D647G	probably damaging	Het
Zfp354c	A	T	11: 50,706,457 (GRCm39)	M206K	probably benign	Het
Zfp804a	A	G	2: 82,089,264 (GRCm39)	N1031S	possibly damaging	Het
Zfp868	A	G	8: 70,064,882 (GRCm39)	V151A	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
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

Predicted Primers

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

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

Posted On

2013-06-11