Mutagenetix > Incidental Mutation

Incidental Mutation 'R5535:Amer2'

434793

Institutional Source

Beutler Lab

Gene Symbol

Amer2

Ensembl Gene

ENSMUSG00000021986

Gene Name

APC membrane recruitment 2

Synonyms

Fam123a, 2600011E07Rik, Amer2

MMRRC Submission

043093-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R5535 (G1)

Quality Score

103

Status

Not validated

Chromosome

Chromosomal Location

60373259-60388197 bp(+) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

AAGGAGGAGGAGGAG to AAGGAGGAGGAG at 60378853 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022561] [ENSMUST00000224957] [ENSMUST00000225247]

AlphaFold

Q8CCJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000022561

SMART Domains

Protein: ENSMUSP00000022561
Gene: ENSMUSG00000021986

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Pfam:WTX	57	554	5.2e-199	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224957

Predicted Effect

probably benign
Transcript: ENSMUST00000225247

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	C	T	9: 119,148,406	G403S	probably damaging	Het
Agbl2	G	A	2: 90,810,006	V699I	probably benign	Het
Bace2	A	T	16: 97,413,425	Q271L	probably damaging	Het
Btn2a2	T	C	13: 23,478,275	K493E	probably benign	Het
Ces3a	T	A	8: 105,051,564	D222E	probably benign	Het
Ckap2l	A	G	2: 129,285,842	C139R	probably benign	Het
Clip4	A	G	17: 71,831,262	H485R	probably benign	Het
Cntfr	T	A	4: 41,663,216	D197V	probably benign	Het
Efcab5	A	G	11: 77,151,921	L2P	probably damaging	Het
Elmo2	A	G	2: 165,310,212	V163A	possibly damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Flrt2	A	G	12: 95,780,426	T513A	probably benign	Het
Gm10801	GT	GTTTTT	2: 98,662,499		probably null	Het
Hectd1	A	T	12: 51,802,326	F332I	probably damaging	Het
Helz	A	G	11: 107,646,120	D947G	probably damaging	Het
Hivep2	T	A	10: 14,131,022	D1121E	probably benign	Het
Hoxa13	GG	GGCG	6: 52,260,540		probably null	Homo
Hoxd13	A	T	2: 74,668,797	Y163F	probably damaging	Het
Immt	C	A	6: 71,852,784	P158Q	probably null	Het
Kcnh5	A	G	12: 75,130,907	S142P	possibly damaging	Het
Lnpep	T	G	17: 17,538,694	H796P	probably benign	Het
Mfhas1	C	A	8: 35,590,269	R633S	possibly damaging	Het
Mmp25	A	G	17: 23,644,760	L32P	probably benign	Het
Myo15b	A	G	11: 115,881,301	D299G	probably damaging	Het
Myo18b	T	C	5: 112,790,042	E1739G	probably damaging	Het
Olfr907	T	A	9: 38,498,998	S110T	probably benign	Het
Parp9	A	G	16: 35,956,825	K147E	probably damaging	Het
Pcdha3	G	T	18: 36,947,936	R577L	probably benign	Het
Plod2	T	A	9: 92,606,569	I637N	probably damaging	Het
Polk	T	G	13: 96,495,497	S243R	probably damaging	Het
Prag1	T	C	8: 36,104,014	S584P	probably benign	Het
Prex1	A	T	2: 166,580,273	V43E	possibly damaging	Het
Rdh10	T	C	1: 16,131,184	Y294H	probably damaging	Het
Rnf126	T	A	10: 79,762,699	I28F	probably damaging	Het
Sdk2	T	A	11: 113,943,158	H66L	possibly damaging	Het
Tet1	G	T	10: 62,832,907	P1431Q	probably damaging	Het
Tmco2	T	A	4: 121,105,993	Q103L	possibly damaging	Het
Ucp3	A	T	7: 100,480,666	R172W	probably benign	Het
Unc79	A	T	12: 103,169,703	I2270F	possibly damaging	Het

Other mutations in Amer2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01844:Amer2	APN	14	60379907	missense	possibly damaging	0.82
IGL03306:Amer2	APN	14	60378552	missense	probably damaging	1.00
IGL03382:Amer2	APN	14	60379882	missense	possibly damaging	0.77
R0365:Amer2	UTSW	14	60379535	missense	probably damaging	0.99
R0433:Amer2	UTSW	14	60378583	missense	probably damaging	0.99
R1696:Amer2	UTSW	14	60379674	missense	possibly damaging	0.65
R1754:Amer2	UTSW	14	60379757	missense	probably damaging	1.00
R1991:Amer2	UTSW	14	60379820	missense	probably damaging	0.96
R2018:Amer2	UTSW	14	60378445	missense	probably damaging	1.00
R2423:Amer2	UTSW	14	60379207	missense	possibly damaging	0.81
R3160:Amer2	UTSW	14	60378551	missense	probably damaging	1.00
R3161:Amer2	UTSW	14	60378551	missense	probably damaging	1.00
R3162:Amer2	UTSW	14	60378551	missense	probably damaging	1.00
R4928:Amer2	UTSW	14	60379445	missense	possibly damaging	0.92
R4981:Amer2	UTSW	14	60379727	missense	probably damaging	1.00
R5212:Amer2	UTSW	14	60379820	missense	probably damaging	0.96
R5685:Amer2	UTSW	14	60379577	nonsense	probably null
R6002:Amer2	UTSW	14	60378782	missense	possibly damaging	0.93
R6247:Amer2	UTSW	14	60378872	missense	probably damaging	0.96
R6408:Amer2	UTSW	14	60380225	missense	probably damaging	0.96
R7271:Amer2	UTSW	14	60379674	missense	possibly damaging	0.65
R7407:Amer2	UTSW	14	60378842	missense	probably damaging	1.00
R8116:Amer2	UTSW	14	60379405	missense	probably damaging	1.00
R8122:Amer2	UTSW	14	60379342	missense	possibly damaging	0.94
R8758:Amer2	UTSW	14	60378877	missense	probably damaging	0.99
R9005:Amer2	UTSW	14	60379927	missense	probably damaging	1.00
R9006:Amer2	UTSW	14	60379927	missense	probably damaging	1.00
R9007:Amer2	UTSW	14	60379927	missense	probably damaging	1.00
R9016:Amer2	UTSW	14	60379927	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTGCGTTCAAGTTATTCAAG -3'
(R):5'- TCACCTGTCTTGGACGCATC -3'

Sequencing Primer
(F):5'- GCTGCGTTCAAGTTATTCAAGAAAAG -3'
(R):5'- GGAGCTTTGATCGCCAGAG -3'

Posted On

2016-10-24