Mutagenetix > Incidental Mutation

Incidental Mutation 'R9707:Amz1'

729842

Institutional Source

Beutler Lab

Gene Symbol

Amz1

Ensembl Gene

ENSMUSG00000050022

Gene Name

archaelysin family metallopeptidase 1

Synonyms

6530401C20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R9707 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140709882-140739067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140733949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 175 (V175A)

Ref Sequence

ENSEMBL: ENSMUSP00000053110 (fasta)

Gene Model

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

AlphaFold

Q8BVF9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060918
AA Change: V175A

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000053110
Gene: ENSMUSG00000050022
AA Change: V175A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120630
AA Change: V175A

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113911
Gene: ENSMUSG00000050022
AA Change: V175A

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: ENSMUST00000176035

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambra1	G	A	2: 91,640,476 (GRCm39)	R635H	probably damaging	Het
Arsj	T	C	3: 126,232,160 (GRCm39)	I302T	possibly damaging	Het
Asxl3	A	G	18: 22,656,304 (GRCm39)	E1438G	probably benign	Het
BC016579	C	T	16: 45,460,760 (GRCm39)	E103K	probably damaging	Het
Ccdc54	T	A	16: 50,411,163 (GRCm39)	K34N	possibly damaging	Het
Chac2	T	C	11: 30,929,572 (GRCm39)	D55G	possibly damaging	Het
Cts3	T	A	13: 61,714,649 (GRCm39)	I219F	possibly damaging	Het
Des	A	G	1: 75,337,533 (GRCm39)	M158V	possibly damaging	Het
Dohh	T	C	10: 81,223,565 (GRCm39)	F206S	probably damaging	Het
Dst	T	C	1: 34,228,934 (GRCm39)	S2176P	probably benign	Het
Ecpas	C	T	4: 58,824,816 (GRCm39)		probably null	Het
Epb41l2	G	A	10: 25,378,235 (GRCm39)	V836M	probably damaging	Het
Foxc1	A	T	13: 31,991,882 (GRCm39)	E231V	probably damaging	Het
Ighd	T	A	12: 113,378,108 (GRCm39)	N164Y		Het
Ighv1-53	A	T	12: 115,122,035 (GRCm39)	Y113*	probably null	Het
Ildr1	A	G	16: 36,529,892 (GRCm39)	D93G	probably damaging	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Lrp1	T	C	10: 127,408,414 (GRCm39)	E1754G	probably benign	Het
Mbd4	T	A	6: 115,826,559 (GRCm39)	H144L	probably benign	Het
Mcm7	C	A	5: 138,170,000 (GRCm39)	A7S	probably benign	Het
Mmp9	T	A	2: 164,794,605 (GRCm39)	N532K	possibly damaging	Het
Msr1	T	G	8: 40,076,988 (GRCm39)	E207D	probably benign	Het
Neurl4	A	T	11: 69,799,679 (GRCm39)	D994V	probably damaging	Het
Or1e35	A	G	11: 73,798,090 (GRCm39)	V76A	possibly damaging	Het
Or6c69b	T	C	10: 129,627,444 (GRCm39)	T5A	probably damaging	Het
Or8s5	C	T	15: 98,238,154 (GRCm39)	V239I	probably benign	Het
Pcdhgb6	T	C	18: 37,876,768 (GRCm39)	I492T	possibly damaging	Het
Pde4c	A	G	8: 71,202,701 (GRCm39)	D669G	probably benign	Het
Phf3	C	A	1: 30,868,923 (GRCm39)		probably null	Het
Ptpn12	T	A	5: 21,207,620 (GRCm39)	T279S	probably damaging	Het
Rbbp6	A	T	7: 122,589,061 (GRCm39)	T287S	probably damaging	Het
Slc22a21	T	C	11: 53,851,186 (GRCm39)	N192S	probably benign	Het
Slc46a3	G	T	5: 147,821,022 (GRCm39)	H377N	probably benign	Het
Smg9	G	T	7: 24,102,869 (GRCm39)	R16L	probably damaging	Het
Spmip2	A	G	3: 79,313,167 (GRCm39)	I80M	probably damaging	Het
Synj1	A	G	16: 90,758,300 (GRCm39)	V848A	possibly damaging	Het
Taf7	A	T	18: 37,776,053 (GRCm39)	S171R	probably damaging	Het
Trav7-3	A	G	14: 53,681,189 (GRCm39)	E77G	probably benign	Het
Usp16	T	C	16: 87,263,235 (GRCm39)	S146P	probably benign	Het
Vmn1r22	A	T	6: 57,877,890 (GRCm39)	I29K	probably benign	Het
Zfp236	A	G	18: 82,664,328 (GRCm39)	C486R	probably damaging	Het
Zfp329	T	C	7: 12,544,129 (GRCm39)	Q465R	probably benign	Het

Other mutations in Amz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01808:Amz1	APN	5	140,727,034 (GRCm39)	utr 5 prime	probably benign
IGL02340:Amz1	APN	5	140,738,014 (GRCm39)	missense	probably damaging	1.00
IGL03389:Amz1	APN	5	140,737,782 (GRCm39)	missense	probably benign
PIT4131001:Amz1	UTSW	5	140,735,088 (GRCm39)	critical splice donor site	probably null
R1173:Amz1	UTSW	5	140,737,691 (GRCm39)	critical splice acceptor site	probably null
R1237:Amz1	UTSW	5	140,727,039 (GRCm39)	start codon destroyed	probably damaging	0.98
R1435:Amz1	UTSW	5	140,733,921 (GRCm39)	missense	probably damaging	1.00
R1909:Amz1	UTSW	5	140,738,216 (GRCm39)	missense	probably benign	0.30
R2019:Amz1	UTSW	5	140,737,719 (GRCm39)	missense	probably benign	0.00
R4094:Amz1	UTSW	5	140,737,921 (GRCm39)	missense	probably damaging	0.99
R4374:Amz1	UTSW	5	140,738,194 (GRCm39)	missense	possibly damaging	0.83
R5121:Amz1	UTSW	5	140,729,919 (GRCm39)	missense	probably benign	0.05
R5462:Amz1	UTSW	5	140,733,976 (GRCm39)	missense	probably damaging	1.00
R7339:Amz1	UTSW	5	140,727,306 (GRCm39)	missense	probably benign	0.01
R7475:Amz1	UTSW	5	140,729,941 (GRCm39)	critical splice donor site	probably null
R7915:Amz1	UTSW	5	140,727,190 (GRCm39)	missense	probably benign
R8416:Amz1	UTSW	5	140,737,731 (GRCm39)	nonsense	probably null
R8539:Amz1	UTSW	5	140,734,412 (GRCm39)	missense	probably benign	0.05
R8766:Amz1	UTSW	5	140,733,921 (GRCm39)	missense	probably benign	0.01
R9500:Amz1	UTSW	5	140,737,975 (GRCm39)	missense	probably benign	0.00
R9563:Amz1	UTSW	5	140,738,133 (GRCm39)	missense	probably damaging	1.00
Z1176:Amz1	UTSW	5	140,729,828 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCCATGGCCTCACTCTCAG -3'
(R):5'- CCGTGAGAACATAGCCTCAAG -3'

Sequencing Primer
(F):5'- ACTCTCAGGCCAGGTCCATG -3'
(R):5'- GCCTCAAGCTTGTGCACAC -3'

Posted On

2022-10-06