Mutagenetix > Incidental Mutation

Incidental Mutation 'R8539:Amz1'

659325

Institutional Source

Beutler Lab

Gene Symbol

Amz1

Ensembl Gene

ENSMUSG00000050022

Gene Name

archaelysin family metallopeptidase 1

Synonyms

6530401C20Rik

MMRRC Submission

068505-MU

Accession Numbers

Essential gene?

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

Stock #

R8539 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140709882-140739067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140734412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 215 (L215S)

Ref Sequence

ENSEMBL: ENSMUSP00000113911 (fasta)

Gene Model

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

AlphaFold

Q8BVF9

Predicted Effect

probably benign
Transcript: ENSMUST00000060918
AA Change: L215S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000053110
Gene: ENSMUSG00000050022
AA Change: L215S

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: ENSMUST00000120630
AA Change: L215S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113911
Gene: ENSMUSG00000050022
AA Change: L215S

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	G	A	13: 4,484,474 (GRCm39)		probably null	Het
Aplnr	A	G	2: 84,967,251 (GRCm39)	D92G	probably benign	Het
Arpc5	A	G	1: 152,642,552 (GRCm39)	D26G	probably damaging	Het
Cntrob	G	A	11: 69,211,652 (GRCm39)	R191C	possibly damaging	Het
Ephb4	A	G	5: 137,356,117 (GRCm39)	D242G	probably damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Galnt13	A	T	2: 54,823,584 (GRCm39)		probably null	Het
Hcrt	T	A	11: 100,652,051 (GRCm39)		probably benign	Het
Hnf1a	A	G	5: 115,108,576 (GRCm39)		probably null	Het
Hykk	A	G	9: 54,844,444 (GRCm39)	S170G	probably benign	Het
Igf1r	C	A	7: 67,653,596 (GRCm39)	Q45K	probably benign	Het
Klhl8	C	T	5: 104,015,392 (GRCm39)	V511I	probably damaging	Het
Loxl3	A	T	6: 83,026,507 (GRCm39)	M488L	probably benign	Het
Myo7a	G	A	7: 97,721,668 (GRCm39)	P1221S	probably damaging	Het
Myom2	A	T	8: 15,164,254 (GRCm39)	I1050F	probably benign	Het
Ncapd3	T	G	9: 26,959,520 (GRCm39)	C319G	probably benign	Het
Ndufaf5	C	A	2: 140,025,894 (GRCm39)	T151K	possibly damaging	Het
Notch3	A	T	17: 32,375,329 (GRCm39)	D364E	possibly damaging	Het
Nudt21	G	A	8: 94,763,601 (GRCm39)		probably benign	Het
Or2p2	T	C	13: 21,257,343 (GRCm39)	I43V	probably benign	Het
Pkd1l3	T	A	8: 110,362,919 (GRCm39)	V1060E	probably damaging	Het
Plxnd1	G	C	6: 115,939,768 (GRCm39)	P1404A	possibly damaging	Het
Ret	A	G	6: 118,152,770 (GRCm39)	V523A	possibly damaging	Het
Ror1	T	C	4: 100,299,084 (GRCm39)	I819T	possibly damaging	Het
Scn10a	T	A	9: 119,467,840 (GRCm39)	K767*	probably null	Het
Sema5a	T	A	15: 32,618,989 (GRCm39)	W506R	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sult1b1	C	A	5: 87,681,838 (GRCm39)	V67F	possibly damaging	Het
Suz12	T	A	11: 79,889,904 (GRCm39)	D13E	probably damaging	Het
Tap1	C	T	17: 34,408,409 (GRCm39)	A216V	probably benign	Het
Tlr3	A	G	8: 45,851,553 (GRCm39)	L448P	probably damaging	Het
Tnik	G	A	3: 28,596,152 (GRCm39)	V182M	probably damaging	Het
Ttn	A	G	2: 76,736,778 (GRCm39)	F4329L	probably benign	Het
Usp21	C	T	1: 171,111,246 (GRCm39)	E396K	probably damaging	Het
Vmn1r122	A	T	7: 20,867,281 (GRCm39)	I258N	possibly damaging	Het
Vmn2r106	C	A	17: 20,499,271 (GRCm39)	R213S	probably benign	Het
Vmn2r111	A	T	17: 22,790,274 (GRCm39)	M244K	probably benign	Het
Zeb1	T	A	18: 5,748,784 (GRCm39)	V117D	probably damaging	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
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
R9707:Amz1	UTSW	5	140,733,949 (GRCm39)	missense	possibly damaging	0.63
Z1176:Amz1	UTSW	5	140,729,828 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCCCAGAGTCAACTGCATATG -3'
(R):5'- ATCGCTCACTCTTTAAAGTTAGGG -3'

Sequencing Primer
(F):5'- GGTGGTTTCACCCTAGAT -3'
(R):5'- CTTTTAGCACTGACTACGCAAGGG -3'

Posted On

2021-01-18