Mutagenetix > Incidental Mutation

Incidental Mutation 'R4722:Amz2'

354552

Institutional Source

Beutler Lab

Gene Symbol

Amz2

Ensembl Gene

ENSMUSG00000020610

Gene Name

archaelysin family metallopeptidase 2

Synonyms

ESTM12

MMRRC Submission

041987-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109316772-109328974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109325457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 272 (L272F)

Ref Sequence

ENSEMBL: ENSMUSP00000099350 (fasta)

Gene Model

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

AlphaFold

Q400C8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020929
AA Change: L272F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020929
Gene: ENSMUSG00000020610
AA Change: L272F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092500
AA Change: L272F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090157
Gene: ENSMUSG00000020610
AA Change: L272F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000103061
AA Change: L272F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099350
Gene: ENSMUSG00000020610
AA Change: L272F

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

0.2933

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	T	12: 55,107,922 (GRCm39)	D92E	probably benign	Het
Abca17	A	G	17: 24,484,403 (GRCm39)	F1620L	probably damaging	Het
Abcf1	T	C	17: 36,268,933 (GRCm39)		probably benign	Het
Adtrp	T	C	13: 41,920,823 (GRCm39)	H248R	probably benign	Het
Aldh1b1	T	G	4: 45,803,472 (GRCm39)	F337V	probably damaging	Het
Asic2	A	T	11: 81,859,009 (GRCm39)	M1K	probably null	Het
Avpr1a	T	A	10: 122,284,906 (GRCm39)	V66E	possibly damaging	Het
AW554918	C	A	18: 25,307,772 (GRCm39)	Y28*	probably null	Het
Cdc25b	C	T	2: 131,035,271 (GRCm39)	P343L	probably damaging	Het
Chd7	T	A	4: 8,822,445 (GRCm39)	I846K	probably damaging	Het
Dnajc13	A	T	9: 104,091,017 (GRCm39)	M688K	probably benign	Het
Dock2	T	A	11: 34,586,298 (GRCm39)	I505F	probably damaging	Het
Dpy19l4	A	G	4: 11,290,521 (GRCm39)	V290A	possibly damaging	Het
Dtl	G	T	1: 191,288,953 (GRCm39)	Q254K	possibly damaging	Het
Enpp2	T	G	15: 54,750,985 (GRCm39)	K265T	probably damaging	Het
Epm2aip1	TGTCGCCG	TG	9: 111,101,152 (GRCm39)		probably benign	Het
Fam133b	T	A	5: 3,593,949 (GRCm39)		probably null	Het
Fuom	A	G	7: 139,679,480 (GRCm39)		probably benign	Het
Fut9	T	C	4: 25,799,734 (GRCm39)		probably benign	Het
Gas8	T	A	8: 124,252,374 (GRCm39)	I171N	possibly damaging	Het
Gipc3	T	G	10: 81,177,129 (GRCm39)	D147A	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm5591	T	C	7: 38,218,572 (GRCm39)	K767R	probably damaging	Het
Kctd8	G	A	5: 69,498,544 (GRCm39)	P34L	possibly damaging	Het
Kmt2b	G	A	7: 30,282,627 (GRCm39)	R403C	probably damaging	Het
Krt84	A	T	15: 101,436,846 (GRCm39)	I396N	probably damaging	Het
Lrrk2	C	A	15: 91,573,104 (GRCm39)	F217L	probably damaging	Het
Med27	T	A	2: 29,414,447 (GRCm39)	D290E	probably damaging	Het
Mical3	T	C	6: 121,015,486 (GRCm39)	Q184R	probably benign	Het
Mlxip	A	T	5: 123,585,265 (GRCm39)	K591M	probably benign	Het
Mutyh	T	A	4: 116,674,069 (GRCm39)	L233H	probably damaging	Het
Naip6	G	T	13: 100,443,580 (GRCm39)	H253N	possibly damaging	Het
Nynrin	A	G	14: 56,091,852 (GRCm39)	E56G	probably damaging	Het
Oip5	C	T	2: 119,443,492 (GRCm39)		probably null	Het
Or10a4	T	A	7: 106,696,777 (GRCm39)	I35N	possibly damaging	Het
Or10ak12	T	C	4: 118,666,146 (GRCm39)	N305S	probably damaging	Het
Or4c104	T	G	2: 88,586,356 (GRCm39)	H221P	possibly damaging	Het
Or4c15	T	C	2: 88,760,324 (GRCm39)	I112V	possibly damaging	Het
Or5p61	T	A	7: 107,758,445 (GRCm39)	I212F	probably benign	Het
Oxr1	T	C	15: 41,677,045 (GRCm39)	S132P	probably damaging	Het
Pcdhac1	C	T	18: 37,224,933 (GRCm39)	T582I	probably damaging	Het
Prl7a2	A	G	13: 27,844,858 (GRCm39)	I176T	probably damaging	Het
Rabgap1l	T	C	1: 160,169,734 (GRCm39)	T30A	possibly damaging	Het
Rapgef2	A	G	3: 78,976,480 (GRCm39)	M1294T	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Rnmt	T	A	18: 68,438,952 (GRCm39)	N20K	probably damaging	Het
Scn7a	T	A	2: 66,531,228 (GRCm39)	T550S	possibly damaging	Het
Shank1	T	A	7: 43,962,638 (GRCm39)	Y117*	probably null	Het
Skint5	T	A	4: 113,751,052 (GRCm39)	K331I	unknown	Het
Slc5a1	A	G	5: 33,304,055 (GRCm39)	Y290C	possibly damaging	Het
Slfn14	T	C	11: 83,174,244 (GRCm39)	E249G	probably benign	Het
Smarcal1	T	C	1: 72,650,496 (GRCm39)	S544P	probably damaging	Het
St6galnac3	A	T	3: 153,117,166 (GRCm39)	Y186N	probably damaging	Het
Tbc1d1	T	C	5: 64,420,900 (GRCm39)	F346S	probably damaging	Het
Tdrd5	A	T	1: 156,129,945 (GRCm39)	I75K	probably benign	Het
Tnrc6a	T	C	7: 122,791,313 (GRCm39)	M1737T	possibly damaging	Het
Toe1	A	T	4: 116,662,397 (GRCm39)	Y283N	probably damaging	Het
Tubal3	G	T	13: 3,978,185 (GRCm39)	G34C	probably damaging	Het
Uxs1	A	G	1: 43,814,006 (GRCm39)	L77P	probably damaging	Het
Vmn1r212	T	C	13: 23,068,078 (GRCm39)	Y85C	probably damaging	Het
Yju2b	A	T	8: 84,985,439 (GRCm39)	C277S	probably benign	Het
Zdhhc4	A	G	5: 143,307,536 (GRCm39)	S162P	probably damaging	Het
Zfp712	A	G	13: 67,190,177 (GRCm39)	S117P	probably benign	Het
Zic4	G	T	9: 91,261,257 (GRCm39)	G164C	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
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
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
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'- TATCAGCTGCACCAAAGGGG -3'
(R):5'- CCTGATTCCTCTGATAAATCACAGC -3'

Sequencing Primer
(F):5'- CTGCACCAAAGGGGAAGTCC -3'
(R):5'- GCTCTAATAGGAAACGCCCTG -3'

Posted On

2015-10-21