Mutagenetix > Incidental Mutation

Incidental Mutation 'R7915:Amz1'

648008

Institutional Source

Beutler Lab

Gene Symbol

Amz1

Ensembl Gene

ENSMUSG00000050022

Gene Name

archaelysin family metallopeptidase 1

Synonyms

6530401C20Rik

MMRRC Submission

045963-MU

Accession Numbers

Essential gene?

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

Stock #

R7915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140709882-140739067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140727190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 51 (N51S)

Ref Sequence

ENSEMBL: ENSMUSP00000053110 (fasta)

Gene Model

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

AlphaFold

Q8BVF9

Predicted Effect

probably benign
Transcript: ENSMUST00000060918
AA Change: N51S

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

SMART Domains

Protein: ENSMUSP00000053110
Gene: ENSMUSG00000050022
AA Change: N51S

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: N51S

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

SMART Domains

Protein: ENSMUSP00000113911
Gene: ENSMUSG00000050022
AA Change: N51S

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	G	17: 24,484,507 (GRCm39)	H1585P	probably damaging	Het
Acaca	A	T	11: 84,167,414 (GRCm39)	T1063S	probably benign	Het
Actc1	T	A	2: 113,880,967 (GRCm39)	K86M	probably damaging	Het
Arhgap33	G	A	7: 30,222,648 (GRCm39)	P1095S	probably benign	Het
Bicra	T	C	7: 15,722,447 (GRCm39)	T357A	probably benign	Het
C130032M10Rik	A	G	9: 114,345,123 (GRCm39)	R120G	unknown	Het
Cadps	A	G	14: 12,705,544 (GRCm38)	F284L	possibly damaging	Het
Ccdc83	G	A	7: 89,893,290 (GRCm39)	Q156*	probably null	Het
Cdh20	T	A	1: 104,861,898 (GRCm39)	M26K	probably benign	Het
Cdh23	A	G	10: 60,143,668 (GRCm39)	L2979P	probably damaging	Het
Cdhr17	A	G	5: 17,032,012 (GRCm39)	N556D	probably benign	Het
Crocc2	T	C	1: 93,141,363 (GRCm39)	L1172P	probably damaging	Het
Cyp2d10	C	T	15: 82,288,628 (GRCm39)		probably null	Het
Cyp2j9	T	A	4: 96,479,621 (GRCm39)		probably benign	Het
Dgcr2	A	G	16: 17,677,266 (GRCm39)		probably null	Het
Dio3	A	G	12: 110,246,473 (GRCm39)	M270V		Het
Dll1	C	A	17: 15,588,690 (GRCm39)	D662Y	probably damaging	Het
Drd1	G	T	13: 54,207,834 (GRCm39)	P127T	probably damaging	Het
Evc2	T	C	5: 37,544,206 (GRCm39)	S652P	probably damaging	Het
Fam149a	C	A	8: 45,794,280 (GRCm39)	M708I	probably benign	Het
Fam89a	T	C	8: 125,467,895 (GRCm39)	E139G	probably damaging	Het
Gpr141	T	C	13: 19,936,729 (GRCm39)	I15M	probably benign	Het
Hcn4	G	A	9: 58,731,218 (GRCm39)	E142K	unknown	Het
Hivep3	T	A	4: 119,954,962 (GRCm39)	S1093T	possibly damaging	Het
Inpp5f	C	A	7: 128,269,433 (GRCm39)	T261K	probably benign	Het
Ints3	A	T	3: 90,340,132 (GRCm39)	D42E	probably benign	Het
Krt90	A	T	15: 101,466,838 (GRCm39)		probably null	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lrig1	C	A	6: 94,607,082 (GRCm39)		probably null	Het
Mapk14	A	G	17: 28,947,928 (GRCm39)	T221A	probably benign	Het
Megf10	A	T	18: 57,373,807 (GRCm39)	T202S	probably benign	Het
Neo1	A	T	9: 58,838,264 (GRCm39)	F507I	probably benign	Het
Or7a35	A	G	10: 78,853,264 (GRCm39)	Y36C	probably damaging	Het
Or8b48	A	T	9: 38,492,969 (GRCm39)	Y132F	probably damaging	Het
Or8k37	T	A	2: 86,469,110 (GRCm39)	*314L	probably null	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pkd1	T	A	17: 24,811,630 (GRCm39)	Y3724*	probably null	Het
Plxnd1	T	C	6: 115,943,879 (GRCm39)	D1140G	probably benign	Het
Pramel22	T	C	4: 143,382,315 (GRCm39)	K127R	possibly damaging	Het
Prex1	A	G	2: 166,463,112 (GRCm39)	S250P	probably damaging	Het
Prom1	A	T	5: 44,162,277 (GRCm39)	M777K	possibly damaging	Het
Prrc2c	A	C	1: 162,519,977 (GRCm39)	S2125A	probably benign	Het
Ptpn12	A	G	5: 21,214,449 (GRCm39)	I229T	probably damaging	Het
Ranbp6	A	G	19: 29,790,073 (GRCm39)	V93A	probably benign	Het
Rtn3	A	G	19: 7,434,865 (GRCm39)	C376R	probably benign	Het
Sis	A	C	3: 72,828,471 (GRCm39)	H1201Q	probably damaging	Het
Slc20a1	G	A	2: 129,049,757 (GRCm39)	D340N	probably benign	Het
Slc3a2	G	A	19: 8,685,182 (GRCm39)	R535W	probably damaging	Het
Slc5a2	T	A	7: 127,864,966 (GRCm39)	L33Q	probably damaging	Het
Sltm	G	T	9: 70,494,431 (GRCm39)	R927L	probably damaging	Het
Spaca7b	T	C	8: 11,728,645 (GRCm39)	T9A	possibly damaging	Het
Stat1	A	G	1: 52,190,440 (GRCm39)	D565G	probably benign	Het
Terb1	T	C	8: 105,173,848 (GRCm39)	K745R	possibly damaging	Het
Tescl	T	C	7: 24,033,113 (GRCm39)	I71V	probably damaging	Het
Tgm1	T	C	14: 55,937,883 (GRCm39)	D742G	probably damaging	Het
Tmem128	T	A	5: 38,423,875 (GRCm39)	W30R	probably benign	Het
Tox	T	A	4: 6,822,949 (GRCm39)	M123L	probably benign	Het
Tsnaxip1	A	G	8: 106,569,413 (GRCm39)	S547G	possibly damaging	Het
Ttn	T	A	2: 76,567,539 (GRCm39)	K27785*	probably null	Het
Tut7	T	C	13: 59,932,628 (GRCm39)	I1345V	probably benign	Het
Usp38	A	C	8: 81,727,712 (GRCm39)	S340R	probably damaging	Het
Utrn	A	T	10: 12,340,956 (GRCm39)	H2840Q	probably damaging	Het
Vars2	T	C	17: 35,975,731 (GRCm39)	I229V	probably damaging	Het
Vmn1r16	A	T	6: 57,300,380 (GRCm39)	Y81N	probably damaging	Het
Vmn2r98	A	T	17: 19,287,493 (GRCm39)	D442V	probably benign	Het
Vps13d	T	C	4: 144,813,389 (GRCm39)	I3296V		Het
Wwtr1	A	G	3: 57,483,020 (GRCm39)		probably null	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
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
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'- TACAAGAGACCGTGGCTGTC -3'
(R):5'- AGATGACTCCAGCCCATCTC -3'

Sequencing Primer
(F):5'- CTGTCCCCTGGGAGATTCATG -3'
(R):5'- CTCCTACCTATGGGCTGCAG -3'

Posted On

2020-09-15