Mutagenetix > Incidental Mutation

Incidental Mutation 'R7347:Amer3'

570241

Institutional Source

Beutler Lab

Gene Symbol

Amer3

Ensembl Gene

ENSMUSG00000045174

Gene Name

APC membrane recruitment 3

Synonyms

9430069J07Rik, Fam123c

MMRRC Submission

045374-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34618738-34630025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34626983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 407 (D407E)

Ref Sequence

ENSEMBL: ENSMUSP00000054748 (fasta)

Gene Model

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

AlphaFold

Q6NS69

Predicted Effect

probably damaging
Transcript: ENSMUST00000052670
AA Change: D407E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054748
Gene: ENSMUSG00000045174
AA Change: D407E

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930564D02Rik	G	T	3: 104,985,728 (GRCm39)	R47S	unknown	Het
Abtb2	T	G	2: 103,397,757 (GRCm39)	I229S	probably damaging	Het
Adgre1	T	C	17: 57,727,441 (GRCm39)	L457P	probably damaging	Het
Arhgap20	T	C	9: 51,760,335 (GRCm39)	S729P	probably benign	Het
Asap2	T	G	12: 21,279,458 (GRCm39)	I418S	probably benign	Het
Atp5mf	T	C	5: 145,125,295 (GRCm39)		probably null	Het
Brinp3	T	A	1: 146,777,824 (GRCm39)	V757E	probably benign	Het
Brip1	C	T	11: 86,029,929 (GRCm39)	G572R	probably benign	Het
C3	C	A	17: 57,530,215 (GRCm39)	R462L	probably benign	Het
Cat	T	A	2: 103,293,643 (GRCm39)	H395L	probably benign	Het
Ccdc168	G	T	1: 44,098,656 (GRCm39)	P814Q	probably damaging	Het
Cela3a	T	C	4: 137,129,917 (GRCm39)	N235D	possibly damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cntnap1	G	T	11: 101,076,094 (GRCm39)	G993W	probably damaging	Het
Col9a1	A	G	1: 24,218,484 (GRCm39)		probably null	Het
Coro2b	G	T	9: 62,396,654 (GRCm39)	H29N	probably benign	Het
Dll3	C	T	7: 27,998,536 (GRCm39)	R143H	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dync1i1	T	A	6: 5,784,530 (GRCm39)	*114R	probably null	Het
Ecm2	T	C	13: 49,668,554 (GRCm39)	S86P	probably damaging	Het
Eif5	T	C	12: 111,506,724 (GRCm39)		probably benign	Het
Ets1	T	A	9: 32,644,328 (GRCm39)		probably null	Het
Exph5	A	G	9: 53,287,196 (GRCm39)	N1426D	possibly damaging	Het
Eya2	T	C	2: 165,529,586 (GRCm39)	F110L	probably benign	Het
Flt1	T	A	5: 147,517,191 (GRCm39)	E1032V	probably damaging	Het
Galnt5	A	T	2: 57,907,205 (GRCm39)	H556L	probably benign	Het
Glb1l3	A	T	9: 26,740,299 (GRCm39)	Y344N	probably benign	Het
Glrx3	C	A	7: 137,061,015 (GRCm39)	D216E	possibly damaging	Het
Gm45871	T	A	18: 90,609,499 (GRCm39)	C246S	probably damaging	Het
Gstm4	A	G	3: 107,949,689 (GRCm39)	L137P	probably benign	Het
Hsd17b13	T	C	5: 104,116,616 (GRCm39)	T169A	probably damaging	Het
Hydin	A	C	8: 111,326,994 (GRCm39)	T4778P	probably benign	Het
Ifna15	A	G	4: 88,476,220 (GRCm39)	L88P	probably damaging	Het
Inhca	T	A	9: 103,159,845 (GRCm39)	E22V	possibly damaging	Het
Kcnab1	G	A	3: 65,283,952 (GRCm39)	R390H	probably benign	Het
Kng1	C	A	16: 22,886,537 (GRCm39)	H161N	possibly damaging	Het
Lamp5	T	C	2: 135,902,878 (GRCm39)	V199A	probably benign	Het
Lrig3	G	A	10: 125,845,835 (GRCm39)	V755M	probably damaging	Het
Mad1l1	C	T	5: 140,129,799 (GRCm39)	R412H	probably damaging	Het
Marchf6	C	A	15: 31,486,505 (GRCm39)	C350F	probably benign	Het
Mastl	A	G	2: 23,023,401 (GRCm39)	S441P	probably damaging	Het
Mfsd13b	A	T	7: 120,590,951 (GRCm39)	M231L	probably benign	Het
Mical2	T	C	7: 111,981,358 (GRCm39)	V444A	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo15a	A	G	11: 60,368,787 (GRCm39)	M516V	probably benign	Het
Myo1b	A	T	1: 51,790,413 (GRCm39)	F1110L	probably damaging	Het
Nbr1	T	A	11: 101,460,147 (GRCm39)	L381*	probably null	Het
Nln	T	C	13: 104,187,355 (GRCm39)	K325E	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Nrp2	C	T	1: 62,784,663 (GRCm39)	P271S	probably benign	Het
Obox6	A	C	7: 15,568,571 (GRCm39)	L102V	possibly damaging	Het
Or4a69	T	C	2: 89,312,799 (GRCm39)	S227G	probably benign	Het
Or4p8	T	C	2: 88,727,615 (GRCm39)	I109V	possibly damaging	Het
Or7g33	A	G	9: 19,448,395 (GRCm39)	M277T	probably damaging	Het
Or8k16	T	C	2: 85,520,181 (GRCm39)	M136T	probably damaging	Het
Pde10a	A	G	17: 9,186,294 (GRCm39)	H567R	probably damaging	Het
Pdgfra	C	T	5: 75,343,759 (GRCm39)	S760L	possibly damaging	Het
Pid1	T	A	1: 84,136,850 (GRCm39)	I94L	unknown	Het
Plekhn1	T	C	4: 156,307,128 (GRCm39)	H474R	probably benign	Het
Prcc	A	T	3: 87,776,988 (GRCm39)	S329T	possibly damaging	Het
Pros1	G	T	16: 62,739,886 (GRCm39)	R445L	probably damaging	Het
Pxdn	C	A	12: 30,062,260 (GRCm39)	H1370Q	probably benign	Het
Sgce	T	A	6: 4,694,106 (GRCm39)	R283S	probably damaging	Het
Slc25a20	T	G	9: 108,559,657 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,779 (GRCm39)	V446A	probably damaging	Het
Slc6a4	C	G	11: 76,907,911 (GRCm39)	Y358*	probably null	Het
Sned1	A	C	1: 93,209,458 (GRCm39)	E857A	probably damaging	Het
Spata31e2	A	T	1: 26,723,548 (GRCm39)	L544Q	probably benign	Het
Spata31e3	T	C	13: 50,399,780 (GRCm39)	I849V	probably benign	Het
Spdye4b	C	T	5: 143,188,145 (GRCm39)	R213C	possibly damaging	Het
Spry2	T	G	14: 106,130,946 (GRCm39)	E80A	probably damaging	Het
Stard9	G	A	2: 120,497,015 (GRCm39)	C142Y	probably benign	Het
Sync	A	T	4: 129,188,099 (GRCm39)	Q377L	probably benign	Het
Tdrd12	A	G	7: 35,185,117 (GRCm39)	C718R		Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmbim1	T	C	1: 74,330,438 (GRCm39)	E185G	probably benign	Het
Tyk2	T	C	9: 21,019,330 (GRCm39)	M1031V	probably damaging	Het
Vmn1r71	C	T	7: 10,482,428 (GRCm39)	V87I	not run	Het
Vmn2r49	A	G	7: 9,720,741 (GRCm39)	V250A	probably benign	Het
Yipf3	A	C	17: 46,561,753 (GRCm39)	T187P	probably damaging	Het
Zfp148	G	T	16: 33,255,160 (GRCm39)	R50L	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGAACTACCCCTGTTCC -3'
(R):5'- TCTGTAGGAAACCCTGGCTGAG -3'

Sequencing Primer
(F):5'- AACTACCCCTGTTCCCTTGCAG -3'
(R):5'- GAAACCCTGGCTGAGCAAGTC -3'

Posted On

2019-09-13