Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01501:Amer3'

88928

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Amer3

Ensembl Gene

ENSMUSG00000045174

Gene Name

APC membrane recruitment 3

Synonyms

9430069J07Rik, Fam123c

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL01501

Quality Score

Status

Chromosome

Chromosomal Location

34618738-34630025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34627398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 546 (V546M)

Ref Sequence

ENSEMBL: ENSMUSP00000054748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052670]

AlphaFold

Q6NS69

Predicted Effect

probably benign
Transcript: ENSMUST00000052670
AA Change: V546M

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

SMART Domains

Protein: ENSMUSP00000054748
Gene: ENSMUSG00000045174
AA Change: V546M

Domain	Start	End	E-Value	Type
Pfam:WTX	138	444	1.6e-37	PFAM
low complexity region	506	523	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	A	8: 25,404,369 (GRCm39)	N212I	probably damaging	Het
Adgre4	T	G	17: 56,109,002 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,476,308 (GRCm39)	S1504P	possibly damaging	Het
D630003M21Rik	G	A	2: 158,042,987 (GRCm39)	A851V	probably benign	Het
Ddhd2	A	T	8: 26,225,857 (GRCm39)	M500K	probably damaging	Het
Fig4	A	G	10: 41,146,370 (GRCm39)	S191P	probably benign	Het
Gabrg3	T	C	7: 56,374,214 (GRCm39)	T451A	probably damaging	Het
Gzme	T	A	14: 56,356,858 (GRCm39)	M35L	probably damaging	Het
Il6st	A	G	13: 112,616,593 (GRCm39)	I47V	probably benign	Het
Klk1b11	A	T	7: 43,649,258 (GRCm39)		probably benign	Het
Lztr1	G	A	16: 17,340,255 (GRCm39)		probably null	Het
Or4f14b	A	G	2: 111,774,863 (GRCm39)	*313Q	probably null	Het
Or5i1	T	A	2: 87,613,480 (GRCm39)	W199R	possibly damaging	Het
Ptprz1	A	T	6: 22,973,081 (GRCm39)	N283I	probably damaging	Het
Slc25a33	T	C	4: 149,840,615 (GRCm39)		probably benign	Het
Snap91	T	C	9: 86,720,178 (GRCm39)	M120V	probably damaging	Het
Tbc1d8	G	A	1: 39,428,416 (GRCm39)	R510C	probably damaging	Het
Thoc1	T	C	18: 9,986,321 (GRCm39)	L351P	possibly damaging	Het
Tmco5b	A	G	2: 113,121,726 (GRCm39)	K180R	probably null	Het
Zfp553	G	T	7: 126,835,387 (GRCm39)	S314I	probably damaging	Het
Zgrf1	G	A	3: 127,396,211 (GRCm39)		probably null	Het

Other mutations in Amer3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Amer3	APN	1	34,627,608 (GRCm39)	missense	probably benign	0.26
IGL01062:Amer3	APN	1	34,625,820 (GRCm39)	missense	probably damaging	0.96
IGL02642:Amer3	APN	1	34,625,761 (GRCm39)	utr 5 prime	probably benign
IGL02861:Amer3	APN	1	34,627,206 (GRCm39)	missense	probably damaging	1.00
IGL02953:Amer3	APN	1	34,626,877 (GRCm39)	missense	probably damaging	0.98
R0183:Amer3	UTSW	1	34,626,838 (GRCm39)	missense	probably damaging	0.99
R0335:Amer3	UTSW	1	34,618,381 (GRCm39)	unclassified	probably benign
R0639:Amer3	UTSW	1	34,626,902 (GRCm39)	nonsense	probably null
R1391:Amer3	UTSW	1	34,627,470 (GRCm39)	missense	probably benign	0.09
R1514:Amer3	UTSW	1	34,618,408 (GRCm39)	unclassified	probably benign
R1615:Amer3	UTSW	1	34,627,252 (GRCm39)	missense	probably damaging	0.99
R2014:Amer3	UTSW	1	34,618,525 (GRCm39)	unclassified	probably benign
R2104:Amer3	UTSW	1	34,627,759 (GRCm39)	missense	probably benign	0.00
R3080:Amer3	UTSW	1	34,627,503 (GRCm39)	missense	probably benign	0.23
R4508:Amer3	UTSW	1	34,627,380 (GRCm39)	missense	probably benign	0.00
R4635:Amer3	UTSW	1	34,626,958 (GRCm39)	missense	probably damaging	1.00
R4978:Amer3	UTSW	1	34,618,381 (GRCm39)	unclassified	probably benign
R4990:Amer3	UTSW	1	34,627,822 (GRCm39)	missense	probably benign	0.17
R4991:Amer3	UTSW	1	34,627,822 (GRCm39)	missense	probably benign	0.17
R5112:Amer3	UTSW	1	34,626,157 (GRCm39)	missense	possibly damaging	0.94
R5645:Amer3	UTSW	1	34,627,462 (GRCm39)	missense	possibly damaging	0.76
R6483:Amer3	UTSW	1	34,626,771 (GRCm39)	missense	probably damaging	0.97
R6769:Amer3	UTSW	1	34,627,330 (GRCm39)	missense	possibly damaging	0.93
R7097:Amer3	UTSW	1	34,627,869 (GRCm39)	missense	probably benign
R7246:Amer3	UTSW	1	34,625,809 (GRCm39)	missense	possibly damaging	0.82
R7347:Amer3	UTSW	1	34,626,983 (GRCm39)	missense	probably damaging	1.00
R7466:Amer3	UTSW	1	34,627,074 (GRCm39)	missense	probably damaging	1.00
R7719:Amer3	UTSW	1	34,628,083 (GRCm39)	missense	possibly damaging	0.55
R8158:Amer3	UTSW	1	34,626,741 (GRCm39)	missense	possibly damaging	0.68
R8862:Amer3	UTSW	1	34,626,465 (GRCm39)	missense	probably damaging	1.00
R9028:Amer3	UTSW	1	34,627,758 (GRCm39)	missense	probably benign	0.28
R9287:Amer3	UTSW	1	34,627,900 (GRCm39)	missense	possibly damaging	0.69
R9567:Amer3	UTSW	1	34,627,836 (GRCm39)	missense	probably benign	0.09
R9620:Amer3	UTSW	1	34,628,043 (GRCm39)	missense	probably benign	0.09
RF016:Amer3	UTSW	1	34,626,201 (GRCm39)	missense	probably damaging	1.00
X0020:Amer3	UTSW	1	34,627,917 (GRCm39)	missense	probably benign	0.00
Z1176:Amer3	UTSW	1	34,628,094 (GRCm39)	missense	probably benign
Z1177:Amer3	UTSW	1	34,626,277 (GRCm39)	nonsense	probably null

Posted On

2013-12-03