Mutagenetix > Incidental Mutation

Incidental Mutation 'R9620:Amer3'

724688

Institutional Source

Beutler Lab

Gene Symbol

Amer3

Ensembl Gene

ENSMUSG00000045174

Gene Name

APC membrane recruitment 3

Synonyms

9430069J07Rik, Fam123c

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9620 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34618738-34630025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34628043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 761 (P761S)

Ref Sequence

ENSEMBL: ENSMUSP00000054748 (fasta)

Gene Model

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

AlphaFold

Q6NS69

Predicted Effect

probably benign
Transcript: ENSMUST00000052670
AA Change: P761S

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000054748
Gene: ENSMUSG00000045174
AA Change: P761S

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	G	T	18: 10,704,605 (GRCm39)	T151K	possibly damaging	Het
Acsf2	C	T	11: 94,463,412 (GRCm39)	W130*	probably null	Het
Aldh16a1	G	A	7: 44,797,413 (GRCm39)	R132*	probably null	Het
Amotl1	G	T	9: 14,459,969 (GRCm39)	D886E	probably damaging	Het
Cacna1s	T	C	1: 136,035,909 (GRCm39)	F1383S	probably damaging	Het
Col14a1	T	A	15: 55,225,781 (GRCm39)	V148E	unknown	Het
Col9a2	T	A	4: 120,910,403 (GRCm39)		probably null	Het
Cyp2a5	T	A	7: 26,536,636 (GRCm39)	M205K	possibly damaging	Het
Dcst2	A	T	3: 89,277,825 (GRCm39)	Q466L	possibly damaging	Het
Ecel1	T	C	1: 87,080,853 (GRCm39)	I350V	possibly damaging	Het
Enthd1	G	A	15: 80,336,901 (GRCm39)	T511I	probably benign	Het
Exoc6b	T	A	6: 84,988,302 (GRCm39)	K92*	probably null	Het
Fam181a	T	G	12: 103,282,591 (GRCm39)	Y165*	probably null	Het
Fbxo34	A	G	14: 47,768,725 (GRCm39)	Y746C	probably damaging	Het
Fgfr4	T	A	13: 55,308,994 (GRCm39)	S372T	possibly damaging	Het
Fmo1	A	G	1: 162,661,390 (GRCm39)	F298L	probably benign	Het
Gad1	A	C	2: 70,404,620 (GRCm39)	D170A	possibly damaging	Het
Garin2	A	C	12: 78,762,077 (GRCm39)	D247A	probably damaging	Het
Golgb1	T	C	16: 36,739,811 (GRCm39)	S2758P	probably benign	Het
Golm2	T	C	2: 121,737,242 (GRCm39)	V261A	probably benign	Het
H2az2	A	T	11: 6,379,094 (GRCm39)		probably null	Het
Ilkap	A	G	1: 91,303,973 (GRCm39)	C163R		Het
Krt9	A	T	11: 100,079,186 (GRCm39)	D735E	unknown	Het
Lipo3	A	T	19: 33,559,629 (GRCm39)	C80*	probably null	Het
Lpcat3	C	T	6: 124,680,543 (GRCm39)	P478L	probably damaging	Het
Luc7l3	G	A	11: 94,212,545 (GRCm39)	R24C	unknown	Het
Mafa	T	A	15: 75,619,161 (GRCm39)	H204L	probably benign	Het
Mapk10	A	C	5: 103,114,473 (GRCm39)	V305G	probably damaging	Het
Mgat1	T	C	11: 49,152,122 (GRCm39)	F202L	probably benign	Het
Mical2	A	T	7: 111,980,403 (GRCm39)	T126S	probably benign	Het
Mill1	G	A	7: 17,997,027 (GRCm39)	R206H	probably benign	Het
Nlrc5	A	T	8: 95,203,034 (GRCm39)	Y378F	probably benign	Het
Nlrp9a	G	T	7: 26,250,469 (GRCm39)	R78L	probably damaging	Het
Or10b1	G	T	10: 78,356,128 (GRCm39)	A229S	probably benign	Het
Or52i2	A	T	7: 102,320,011 (GRCm39)	I295F	possibly damaging	Het
Or8g50	A	T	9: 39,648,287 (GRCm39)	M59L		Het
Orc6	A	T	8: 86,026,430 (GRCm39)		probably benign	Het
Pate14	A	G	9: 36,548,498 (GRCm39)		probably null	Het
Pcdhgb5	C	T	18: 37,864,486 (GRCm39)	Q94*	probably null	Het
Pcnx1	A	G	12: 81,996,960 (GRCm39)	D952G	probably damaging	Het
Ppfia2	A	T	10: 106,749,519 (GRCm39)	H1135L		Het
Prmt2	A	T	10: 76,061,213 (GRCm39)	I91N	probably damaging	Het
Ptprm	A	G	17: 67,116,484 (GRCm39)	Y932H	probably damaging	Het
Qrich2	T	C	11: 116,337,946 (GRCm39)	K154R	probably damaging	Het
Rapgef4	A	G	2: 72,036,051 (GRCm39)	T515A	probably benign	Het
Rgmb	G	A	17: 16,041,279 (GRCm39)	R103*	probably null	Het
Ripk1	T	G	13: 34,210,806 (GRCm39)	S334A	possibly damaging	Het
Rnf5	C	T	17: 34,820,721 (GRCm39)	G147S	possibly damaging	Het
Ryr1	T	C	7: 28,715,138 (GRCm39)	Y4662C	unknown	Het
Secisbp2l	A	G	2: 125,589,394 (GRCm39)	M718T	probably damaging	Het
Slc16a6	T	C	11: 109,354,322 (GRCm39)	T100A	probably benign	Het
Slc27a6	T	A	18: 58,742,887 (GRCm39)	M525K	probably damaging	Het
Slco2a1	G	C	9: 102,962,065 (GRCm39)	C579S	probably damaging	Het
Snx14	A	G	9: 88,263,794 (GRCm39)	S864P	probably damaging	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Sptbn2	T	C	19: 4,800,535 (GRCm39)	L2250P	probably damaging	Het
Tlr6	A	T	5: 65,112,146 (GRCm39)	S254T	possibly damaging	Het
Trap1	A	T	16: 3,858,083 (GRCm39)	Y675*	probably null	Het
Ttc9b	C	A	7: 27,353,512 (GRCm39)	A54E	probably damaging	Het
Unc45a	A	C	7: 79,975,403 (GRCm39)	Y934D	probably damaging	Het
Usp17ld	A	G	7: 102,900,179 (GRCm39)	L251P	possibly damaging	Het
Usp42	A	G	5: 143,703,154 (GRCm39)	V489A	probably damaging	Het
Vars1	A	G	17: 35,235,001 (GRCm39)	T1277A	unknown	Het
Vmn2r117	A	G	17: 23,697,450 (GRCm39)	S81P	probably damaging	Het
Vmn2r69	T	A	7: 85,061,504 (GRCm39)	I157F	probably benign	Het
Zfp697	A	G	3: 98,335,182 (GRCm39)	S316G	probably damaging	Het
Zfp729b	T	A	13: 67,739,787 (GRCm39)	H826L	probably damaging	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
IGL01501:Amer3	APN	1	34,627,398 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCAATGGGCTCTTCTGGAAG -3'
(R):5'- GGCCATCGAAACATTTCATGG -3'

Sequencing Primer
(F):5'- GGGGTCCCAACATTCTGCAAAAG -3'
(R):5'- ACATTTCATGGCCCAAGGG -3'

Posted On

2022-09-12